Monday, November 5, 2012

Chromosome 3p Deletion Syndrome

3p deletion syndrome is a rare chromosome disorder characterized by the deletion of part of the short arm of chromosome 3 (3p).

  • 2vsd

  • asd

  • pda

  • enlarged left chamber

  • Hips

  • Feet turned in

  • Low muscle tone

  • hyper flexed toes

  • clenched fist

  • lacks muscle control

Developmental Delay
  • Sensory issue

  • Feeding issues

  • Non -Verbal

  • Ear infections

  • Hearing Loss

  • Visual Tracking issues

  • Far Sighted

De Novo Interstitial Deletion on the short arm of chromosome 3 ( 3p.25.3p25.2)

Rozy Kate is currently in therapy 6 sessions a week including pt/ot/and speech.

She also currently takes medication to control absent, partial, and cluster seizures.

She recently had tubes placed in her ears, and is scheduled to retake her hearing test next month.

Chromosome Disorder Outreach
Office of Rare Disease Reseach (ORDR)

After a very stressful , sickly pregnancy my husband Jason and I welcomed Rozlynn Kathleen into the world in June 2011, weighting 7lbs , 2 oz. Other than a light case of jaundice and a fluctuating blood sugar Rozy Kate was perfectly healthy for the first week of her life.

At our one week check up her pediatrician listened to her chest for almost 20 minutes, revealing nothing he sent us away and told us he wanted to see us back in a week. A week later we found out the the doctor believed she had a hole in her heart. We were immediately sent to the hospital for x -rays , and an echo cardiogram. We were sent 3 hours away to discuss the findings.

On July (1month old) our wonderful cardiologist confirmed our worst fears our perfect baby had three small holes in her heart. We were told surgery was not necessary at the time but could become necessary in the near future.

Upon returning to our regular pediatrician we were faced with the fact that her legs and hips were not developing properly. Once again we made a trip to Xray, and ultrasound to rule out hip dysplaysia. Following the same procedure as before the results were sent to St. Louis , and the reading were of concern. So at 5 months we made our 2nd trip to St. Louis.

In December,Rozy was placed in a hip abduction brace to try and fix the hips. She did not have dysplasia but the hips were out of sync causing the feet to turn in. In December (3rd trip) 2 of her holes had closed, but she had developed a pda and the left chamber was enlarged.

In April (trip 4) her hips have realigned to a more acceptable degree, however , they thought that she possibly had sustained a brachio plexus injury resulting in erbs palsy.

May(Trip 5) After noticing an increase in Rozy unresponsive states over a few weeks we rushed her to the ER for our first and scariest hospital stay. She was diagnosed with epilepsy; suffering from partial and cluster seizures. We were put on Trileptal.

During our 72 hour we were told that it was possible that she had suffered a stroke in utero, or during birth. When that was a negative, they told us that her brain was not constructed correctly, when that to proved to not be the case they told us that she possibly had a fatal mitochondrial disease and that this was the beginning of our down hill slide.Blood work was sent for mitochondrial test and chromosome testing.

Before we would get our results Rozy Kate was readmitted to the hospital for viral ataxia (she is very prone to viral infections.)

A month later we received the news that she appeared to have a Unipaternal disomy on chromosome 15 and had Angelman Syndrome or Prader Willi. On August 1 , 2012 we got the results.... Our daughter had neither syndrome (it was a misread on her test) and that our actual diagnosis was Chromosome 3p deletion syndrome. We were led to believe that she was 1 of 45 in the world. This month we found out that though she is one of 45 she is the only living child with her exact deletion and her future is unknown. She is the most delightful, stubborn, little princess we could ask for. Although, we do not know our long term prognosis, we do know that she is a warrior and so far is conquering everything that has been thrown at her.

So our Journey Begins....................

Contributed by MOM Krystal Dover - to follow Rozy's story check out her Facebook page

Monday, October 29, 2012

Congenital Hypomyelinating Syndrome

My son was born perfectly healthy, full term slightly small at 5lbs 11 ounces; we went home hours after
he was born with 9 apgar scores. The only thing slightly odd was his feet where hyperflexed against his
shins. At four months old he had a 'blue spell' and I performed CPR and he started to breathe again.
We went to the hospital where we again were told he was perfectly health and it was probably just
reflux. Within 24 hours he had another blue spell and I again performed CPR, at the hospital he again
stopped breathing and was resuscitated. After this he slowly declined, stopped breathing, would go
dusky with the lack of oxygen and finally was admitted to the PICU for the next 6 months where he was
extremely sick and on life support. All the testing he had done showed he was completely healthy and
the hospitals best guess was reflux but they couldn't understand why every time they extubated him he
would stop breathing again.

At birth the only oddity was his hyperflexed feet and at 4 weeks he started having blue spells. As an
infant his abilities, reflexes etc where all within normal range but as he grew we started to realize he
was not reaching physical milestones. The best I can describe is he had the same muscle ability as he did
at birth but as he got bigger he was less able to move. At the age of 5 he is only able to do some slight
shoulder shrugs and make facial expressions. He is still fully vented and is on life support all the time,
without it he cannot take a breath. He slowly became unable to urinate. He has excessive drooling. As
far as we can tell is cognitively aware and approximately at age appropriate, this is difficult however to
tell since his ability to communicate is significantly impaired. He is g-tube fed since he has little ability to swallow, he has also stopped peeing on his own and he had surgery so we can catheterize him easier through a hole in his belly (Mitrofinoff). We have no idea what his life expectancy is, but with his life being as fragile as it is we have learned to cherish the many joyful moments every day.

Calum has had MRI's, CT scans, multiple x-rays, ultrasounds all of which show a healthy baby, as he
grows his spine is bending and other skeletal deformities are slowly happening (dislocated knees, foot
drop etc). He was diagnosed with a nerve conductivity test at about three months old where they found
he was significantly impaired but at that time they had very little idea what that would translate to
physically for Calum. He has also had multiple genetic testing and everything has come back negative
(he was tested for things like cystic fibrosis, CMT and many peripheral nervous system disorders). At
three years old he has a nerve biopsy which confirmed the problem but did not help with a specific
diagnosis. What was determined is Calum has Cogenital Hypomyelinating Syndrome but no genetic
confirmation of a specific disorder has been determined. So we know what is causing his condition but
not the actual diagnosis as to why he has this condition. There is no family history or a neuromuscular
disorder. Calum's father and I have been asked if we have a possibility of being related, we are not. I
also have a 7 year old daughter who is perfectly healthy.

There are no treatments for my son to improve his condition but we treat the symptoms of his condition.

  • botox treatments in saliva glands to reduce drooling, eventually glands were surgically removed or tied off.

  • mitrofanoff surgery to allow for easy catheterizing through a hole in his belly

  • tonsils and adenoids removed

  • he wears KAFO's and AFO's to help with foot drop and dislocated knee caps

  • he has daily chest physio and range of motion at his joints to slow down/decrease contractures, Calum is mostly floppy at his joints but from lack of movement the range of motion is decreasing

  • he regularly sees, OT, PT, Speech Therapist and Respiratory therapists

  • homemade food instead of the canned formula has made a significant improvement in Calum's overall health, during the time he recieved all his nutrition from canned formula he would be on antibiotics at least a dozen times per year, since changing his food he has not needed antibiotics at all, I find the change in nutrition has been the single most significant change in his health

  • Calum also has a service dog

What we are working on mostly is his ability to communicate. Calum is a bright child, who has a great sense of humour. All indications show he is congnitively age appropriate, he is in a regular Senior Kindergarden class with a full time nurse and EA. We are working on accessing communication with a PCS using eye gaze, a chin switch, eye gaze computers and I follow closely new technologies in accessing the ability to communicate with only the ability to move your eyes.

Calum is fully vented, but on room air and very stable considering his precarious condition. He gets pneumonia often and can be on antibiotics upward of a dozen times a year; however this has significantly improved since we opted to make his food as opposed to feeding him canned formula.

We live in Ancaster, Ontario, and all of his treatments are through the McMaster Children's Hospital. I know if no other child with this specific condition and there are no specific website directly related to my sons condition. I follow research on ALS, MS, CMT, SMA since these conditions are similar.

Contributed by MOM Leslie Sumner

Monday, October 22, 2012


EJ is 19 months old. He was born at 36 weeks because he wasn't growing and they didn't want to risk taking him to full term. He was 2 lbs 13 oz, 16 inches long, and stayed in the NICU for 6 months so he could grow. He was also born with end-stage kidney disease, ambiguous genitalia, high-ached palate, lung disease, and hypothyroidism. His kidney disease causes a lot of issues like bone disease (rickets), anemia (he requires blood transfusions often), and he's also at high risk for urinary tract infections quite often. His immune system is also weakened. He now has a trach/vent because his lung disease has finally been narrowed down to tracheabronchomalacia.

EJ is currently back in the hospital (since August) because he had a severe stomach ulcer. It took 2 months for it to finally stop bleeding. But during that time he developed a serious blood infection which turned into septic shock, and we almost lost him. Recently he developed another blood infection but it was caught early, so not as serious. He will be here for at least another 6 weeks.

EJ still has trouble growing (he's still small for his age). He has small hands/fingers, and feet/toes. Due to being in the hospital for so long (and so often) he also has developmental delays and requires PT/OT/Speech. He is g-tube fed as well. I am not sure if the delays are from his syndrome, or if they are just because he was born small and spent so much time in the hospital, or a combination of both.

The doctors believe all of his problems are tied together somehow and they insist the "syndrome" he has is genetic, though they've tested for everything it could possibly be. One of the reasons they believe it is genetic is because my mom had a baby born before me who only lived for 12 minutes. She had Myelomeningocele which EJ doesn't have, but she also had no kidneys which the doctors find very interesting since EJ had kidney disease.

The doctors are reviewing the slides of my sister's autopsy so they can compare what they know about EJ with her slides. I would love to know what his "official" diagnosis is. Maybe there is a treatment out there, and it would also be helping information to me in case I'd like to have more children one day. I don't know what diseases they have ruled out, but I know whatever he has is NOT common because otherwise I would assume they'd know what it is.

Contributed by MOM Katie Tran. To follow EJ's story, check out his Facebook page - "Be Positive" for EJ

Monday, October 15, 2012

Alstrom Syndrome

Alstrom Syndrome is a rare genetic disorder, affecting only around 800 medically diagnosed people in the WORLD! Alstrom Syndrome leads to blindness, deafness, heart, kidney, & liver failure, obesity, diabetes, & infertility. There are many other clinical features of Alstrom Syndrome that vary from individual to individual, but these are the main symptoms.


  • Dilated Cardiomyopathy

  • Blindness-Cone Rod Dystrophy, Photophobia, Nystagmus

  • Deafness-Sensorineural Loss

  • Short Stature

  • Type 2 Diabetes--develop in late childhood/early adolscence

  • Obesity

  • Hyperphagia

  • Abnormal blood lipid panels in childhood+

Lab work to diagnose, test on different organs as symptoms arise and prove the need for monitoring

Treat each disease/disorder as it arises and progresses

Alstrom Syndrome International

Personal Story:
When Brooklyn was only 7 weeks old, she quit breathing one Sunday in church. We rushed her to the hospital & was told she may have had an allergic reaction to perfume. Even though they couldn't get her blood pressure or oxygen stats, they sent us home to follow up with her Pediatrician the next day. When we arrived at her Pediatricians office, she was breathing so hard that when they put her on the scales to weigh her, the scales were hitting the wall. This alarmed our Pediatrician & he immediatly called for the ambulance to come transfer her to Huntsville Womans & Children Hospital . When we arrived at HW&CH, she went into shock & was put on life support & was not expected to make it through the next few hours. After extensive testing, it was concluded her heart was enlarged, & her kidneys & liver were both enlarged & dropped, which meant her body was shutting down. After a week at HW&CH with no improvements, she was then transfered to Vanderbilt Children's Hospital in Nashville to have a biopsy done on her heart muscle & MORE extensive testing. At Vanderbilt, we found out she had Dilated Cardiomyopathy secondary to Congestive Heart Failure, & also Nystagmus (shaky eyes). She was at Vanderbilt for a month & then sent home on 5 medicines two times a day, & was also placed on the heart transplant list because of it's damaged condition. At this point, it was just a miracle she was even alive! A year passed & despite what the doctors told us, she came off of the heart transplant list & off of all her medicines except for one. The doctors told us this was unexplainable & very unexpected...a true MIRACLE! I said with all of my might that it was GOD & He simply answered our prayers...HE HEALED HER!!!! We gave Him all of the praise & glory that He so richly deserved. By the age of 2, we noticed her sight was progressively getting alot worse and also that she was extremely light sensitive. We eventually found out she was very near and far sighted. She was diagnosed with Photodysphoria (extreme light sensitivity), Nystagmus, Cone Rod Dystrophy, hearing loss in both ears, a kidney reflux called Vesicoureteral Reflux, Gastro issues, & childhood Obesity. Being a very concerned & investigative Mother, I was concerned Brooklyn wasn't recieving the correct diagnosis. As Brooklyn started developing all of the above symptoms, I just had a 'gut' feeling that they all had to be related some way. So, I started researching online and found a rare genetic disorder called Alstrom Syndrome. I thought there was no way MY daughter could have this monster of a syndrome that held such a poor life expectancy. Alstrom Syndrome leads to blindness, deafness, heart, kidney, & liver failure, obesity, diabetes, & she would be unable to have children. And to top it all, there are only around 800 diagnosed cases of Alstrom Syndrome in the WORLD!!! At the age of 3, Brooklyn was, indeed, diagnosed with Alstrom Syndrome. Brooklyn is now 7 and sees about 20+ doctors. Without a doubt God put this precious little girl in our hands for a reason, and I vow to live every day He allows me to have doing all that I can for her!!!! Life IS good!!!

Contributed by MOM Cayla Atwell

Monday, October 8, 2012

Pitt Hopkins Syndrome (PTHS)

Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4.

PTHS is characterized by intellectual disability and developmental delay which range from moderate to severe, possible breathing problems and/or recurrent seizures (epilepsy), gastrointestinal issues, and distinctive facial features.

We had a microarray test done on our daughter and that is how we found out her diagnosis. She was found to have a mutation on her 18th chromosome on TCF4 gene.

No treatments, just therapies to help these children to be able to do every day activities.


  • Chromosome 18 Clinical Research Center - Dr. Janine Cody

  • Dr. David Sweatt, Department of Neurobiology, the University of Alabama at Birmingham


  • Google groups - Pitt Hopkins support group online.

Personal Story:
Our daughter Lilly was born November 2008. We thought she was perfect. She was very healthy and ate well. As she got older I noticed she wasn't reaching her milestones like she should be. At six months old she wasn't rolling over or even attempting to sit up on her own. I knew something wasn't right. My doctor agreed that something was wrong and got us an appointment at Riley Childrens Hospital in Indianapolis, IN. Lilly had several blood tests done for genetic testing. All kept coming back negative for anything. They decided to do a skin biopsy, which came back inconclusive. They decided to do a muscle biopsy as soon as she was 2 years old. In the meantime I was using a forum called babygaga and a woman on there saw my daughters photo on my profile and sent me a message asking if she had been tested for Pitt Hopkins Syndrome. I messaged her back and said that I wasn't sure but I would check it out. I looked online and saw all the kids on their webside and I was just blown away and how much my daughter resembled those other kids. I called up our Neurologist and asked if we could test for it when they did her muscle biopsy. He said we could and so when we went down for the muscle biopsy they took her blood to test for Pitt Hopkins Syndrome. Five weeks later they called us and said, "well done mom, you were right". She had tested positive for Pitt Hopkins Syndrome. Lilly got her positive diagnosis at 2 years old and is almost 4 now. She doesn't walk yet, but she has learned to scoot all over on her bottom. She is a happy, giggly girl. She rarely cries unless we have gas or constipation, or she's just plain tired. Never in a million years would I have thought I would have a special child and here I am. She is the joy in my life and I don't know what I would do without her in it. Its amazing what these special kids do to your heart and how they change you. Anyone that knows her, falls in love with her personality. She's special to everyone that is in her life.

Contributed by MOM Etta Sammartano

Monday, October 1, 2012


Leukodystrophy (unclassified type)

He began showing symptoms when he was almost 18 months old. First, it was thought that he was losing his balance and falling on his heinie, but even after ear-tube surgery, the falling increased. He started crawling (again) and even then his mobility became an issue. Stephen always loved to eat and yet he began to choke on the simpliest food. When sitting he began to slope to the side and his head would droop to his chest. By the time we received the diagnosis, his disease had progressed very quickly.

He underwent numerous blood test, a couple of MRIs and an EEG. The MRIs showed the abnormalities in his white matter in the brain. Blood tests have not been able to determine the type of Leukodystrophy.

Leukodystrophy has taken away his milestones, his ability to eat by mouth and left pain, along with spasticity in their places.

The treatments for him have included the following, which add to the quality of his life: Feeding tube to restore ability to receive nourishment; botox injections to help with the spasticity in his legs; Physical therapy, occupational therapy and speech therapy to improve his quality of life.

We go to Texas Children's Hospital to the different clinics, which doesn't have a specialization for Leukodystrophy. His physical medicine doctor, gastro surgeon, dentist and others have been wonderful in treating him for the effects of Leukodystrophy. There is no cure, so we focus on whatever makes his life as pain-free as possible.

Personal Story:
My Grandson was born in May of 2009 after an unremarkable pregnancy and delivery. When he started exhibiting symptoms of something wrong, we didn't know what was wrong. After connecting with a couple of doctors who didn't feel there was anything wrong, we finally found doctors who were interested in our little guy. When we first heard the word, "Leukodystrophy" in March 2011, our hearts sunk, because we knew that there is no cure and very short life expectancy. Since that time, we have tried to stay focused on RIGHT NOW and make it as positive as possible for Stephen.

Along the way there have been moments of despair, but many more of laughter and hugs. Whatever time we have with our precious little guy, we do try to appreciate everything. Without our friends and family members, this journey would be impossible for us. They help us through the dark times and rejoice with us when we celebrate. No one who has ever met our little Stephen will ever be the same, because his purity of love works its way into everyone's hearts. We are blessed to have him in our lives.

Contributed by (Grand)MOM Bonnie Lovitt

Monday, September 24, 2012

Premature with Drug Addiction

29 wks premature, drug addicted

Born clinically dead in the toilet of her mother's county jail cell. She suffers from a nerve disorder that causes tremors, a seizure disorder, damaged vocal chords and trachea due to contracting undiagnosed chlamydia in the birth canal and an underdeveloped lung. She also suffers from significant asthma.

seizure disorder, nervous system disorders, vocal chord and trachea damage, athsma

Where do I begin. PT/OT for several years, several surgeries, continuing speech and neurological care. Takes meds to control seizures and help cut down on hand tremor and steroids for her lungs/asthma.

Hand to Hold serves all NICU families
Adoptive Parenting as well as other adoption support organizations have services to help when dealing with babies going through drug related or health issues

Personal Story:
When we met Anna Marie she had been laying in the hospital alone for almost three months with no mommy to love her. The nurses were doing all they could to care for her - and we credit her survival to their excellent care - when our foster care worker rec'd a call from her attending physician with the news that she was failing to improve and that they had "done all they could" Anna had "no one to live for" and was dying. Her lungs were so scarred from almost continual pneumonia and intubation with the complications of chlamydia that she would cry with no sound - just bubbles. Her O2 would drop so low at times they weren't sure she would recover. When we met her, we were told that she would likely not survive, but at least we could "love her until the end". Even our pediatrician warned us that we were very likely to get our hearts broken because she was so very ill and her prognosis was so grave. I met her on a Wednesday night in late April of 2007. She weighed just four pounds. I moved into the hospital where we bounced back and forth from the PICU to a room just across from the nurses station. We fought and fought and prayed and prayed until our knees were worn out -- she came home 8 months later, was in and out alot with pneumonia and we had O2 at home most of the time but she was improving every day. On New Years Day of 2012 she celebrated her 5th birthday and has amazed all the doctors who have ever cared for her! We still battle a "little" lung on her right side and the seizures, tremors and delays can be discouraging at times but she is a precious, precious gift that we are so incredibly grateful for. I am looking forward to being a part of this special group of mommies! - hope the photo comes through, she was a flower girl this spring and it looks like she is dancing with the tree in her hand!

Contributed by MOM Elizabeth Harkins

Monday, September 17, 2012

Congenital Birth Defects (Scoliosis & Atrial Septal)

Congenital Scoliosis caused by hemivertebrae( first child) and Atrial Septal Defect with first degree AV block, congenital heart defect ( second child).

My first child, Azlynn, was having stomach problems so a KUB was ordered. This was when she was 7. Upon examination of the KUB report, it was noted she had mild thoracolumbar scoliosis. Her ped said they would recheck it in a year. The next year at 8, it had gotten progressively worse. Otherwise she had no symptoms. For my second child her only symptom is a heart murmur.

Azlynn had an x-ray done. After that confirmed she got worse, she then had to see a orthopedic surgeon who did many more x-rays. He diagnosed her as having hemivertebrae, a birth defect ocurring in the womb which caused scoliosis. For the second child, she was sent to a cardiologist who had an EKG and an echo done. She was diagnosed with atrial septal defect with first degree av block. Her hole is 22 to 25 MM in size and is very large for her age.

First child had posterior spinal fusion on 6/08/11 and is doing well. She has to be checked every year to monitor growith with the rods and screws she has in her spine. The second child has to undergo open heart surgery within a few months to patch her hole closed.


Personal Story:
Hi, I have two girls and they were both born with congenital birth defects. My oldest daughter Azlynn has congenital scoliosis, caused by hemivertebrae. She had a posterior spinal fusion last year at Johns Hopkins. She is now doing great and has to be checked every year to see how her spine is growing with the rods and screws. My 19 month old, Aurora, was just diagnosed with two congenital heart defects, Atrial Septal Defect and AV block. The ASD is very large for her age, 22 to 25 MM in size. She has to have open heart surgery. We are being recommended to do it now or before the cold season kicks in. I am heartbroken and really scared.All prayers are appreciated. These girls are my warriors :)

Contributed by MOM Jess Moore

Monday, September 10, 2012

Oromandibular Limb Hypoplasia

Oromandibular Limb Hypoplasia

My son was born with no feet, and with missing/small fingers. He was also severely tongue-tied, as he was born without a frenulum.

Shriner's Children's Hospital of Philadelphia diagnosed him with Oromandibular Limb Hypoplasia when he was 3 months old. Prior to that, we had no real diagnosis, just guessing.

He had reconstructive surgery on his tongue at 11 months old. He currently receives Occupational Therapy once a week and Physical Therapy twice a week.

There are none.

Personal Story:
I found out that Kayden did not have any feet when I was 13 weeks pregnant. After that, the doctors accused me of being a drug addict and monitored my pregnancy as a high risk pregnancy. (I am not & have never been a drug addict, this is just how the doctors chose to treat me because they have never seen his condition before.) When Kayden was 3 months old and we finally learned of the name of his "disease", (it is classified as a rare disease) I immediately starting searching for anything else I could find on it. To date, the only information I can find is two people in Columbia, unrelated, with his disease and one little girl in Georgia who was adopted, whose story is online.

Contributed by MOM Alyssa Johnston

Monday, September 3, 2012

Congenital Anomaly/Mental Retardation Syndrome Characterized by Heart Defects

Congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are caused by mutations in two genes, PTPN11 and HRAS, respectively. Recently, we identified mutations in KRAS and BRAF in 19 of 43 individuals with CFC syndrome, suggesting that dysregulation of the RAS/RAF/MEK/ERK pathway is a molecular basis for CFC syndrome.

The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart, particularly in infancy. Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome.

Molecular genetic (DNA) TESTING

Currently, there is no cure to treat all of the symptoms of CFC syndrome. However, with proper management and early intervention, much can be done to improve the health of children with CFC syndrome. At present, treatment ultimately depends on the unique characteristics of each individual. These can include heart surgery to repair a structural defect, medications and lotions for the skin problems, or eye surgeries or corrective lenses to improve vision.


Personal Story:
I was 26 weeks pregnant was going for a routine check up..they noticed I had a very large build up of amniotic fluid. So over the course of the next few weeks I was monitored. They did amino reductions. At a routine appointment I was having lots of contractions. By this time I was 32 weeks. They hospitalized me for the remainder of my pregnancy but with a follow up ultrasound noticed the baby had fluid around heart and lungs. Our son Braxton was delivered that day at 33 week and 2 days. They told us when he was born he had a 5% chance of survival the first 72 hours. That was devastating. We spent 77 days in the NICU at Kentucky Children's Hospital before we came home in April of 2010. After that he was hospitalized many many times. He has a vp shunt, a feeding tube. Lots of heart problems and lung problems. But it wasn't until Aug of 2011 we found out our little guy was even more special. We had a very long stay in Cincinnati children's hospital where they did lots of genetic testing and we finally got our answer. We had never heard of this syndrome until then. We came home and he was fine for a couple of months and then one day I woke up and noticed something just wasn't right. So I called 911 and they airlifted him back to UK HOSPITAL where he coded 2 times. They told me his airway was closing up so they would have to do a tracheostomy. I was devastated once again. I thought how much more can my little fighter go through. We got to come home a couple weeks after the tracheostomy in May of this year. Since then my little man has progressed significantly. He is truely my miracle from god. He is 2 1/2 years old and smiles all day everyday.

Contributed by MOM Sherrie

Monday, August 27, 2012

Lymphatic Malformation

Lymphatic Malformation affects approximately 1 in 6,000 live births, but the severity can range greatly. LM is a disorder where the lymphatic system does not develop properly and causes cysts to form under the skin. The most common area is the head and neck, but it can occur in many different places.

Cystic swelling in the affected area. Often affects all tissues involved, making treatment difficult.

LM is often detected via ultrasound in utero in the middle stages of pregnancy. After birth MRI, CT and ultrasound can confirm a diagnosis. Sometimes non-visible LM's are found because other symptoms are present.

Treatment of complex LM is difficult, often involving many treatments. Surgical removal of LM tissue is common. Sclerotherapy (inecting the cysts with an agent that helps irritate ans shut down each individual cyst) can be successful. Lymphatic malformation in the airway can be treated by lasers and other forms of removal. Treatment by a team well experienced in LM is essential. Dormant LM tissue often causes recurrence, so more complex LM is typically managed, not "cured".

The National Organization of Vascular Anomalies (and on Facebook)
Cincinnati Children's Hospital Medical Center- Hemangioma and Vascular Malformation Center

Personal Story:
My son Micah was diagnosed with a large head and neck LM at 24 weeks gestation. He has been treated at Cincinnati Children's since birth. His LM affects his airway and he has a trach and feeding tube. He has had over a dozen surgeries and other treatments to manage his LM. Micah is an amazing little boy who proves to us every day that miracles do happen! He is otherwise healthy and happy and a joy to those around him.

Contributed by MOM Brittany Hartman- Read more about Micah

Monday, August 20, 2012

Group B Streptococcal Meningitis (GBS)

Despite the development of effective vaccines, useful tools for rapid identification of pathogens, and potent antimicrobial drugs, neonatal meningitis continues to contribute substantially to neurologic disability worldwide.

The persistence of neonatal meningitis results from increases in the numbers of infants surviving premature delivery and from limited access to medical resources in developing countries. In addition, the absence of specific clinical findings makes diagnosis of meningitis more difficult in neonates than in older children and adults. Moreover, a wide variety of pathogens are seen in infants as a consequence of the immaturity of their immune systems and intimate exposure to possible infection from their mothers.

This review focuses on common presentations of treatable bacterial and viral meningitis in the neonatal period, defined as the period from birth to 44 weeks after conception. Common central nervous system (CNS) infections caused by bacteria and viruses (eg, herpes simplex virus [HSV]) are emphasized. Meningitides caused by HIV and fungi are excluded, as are those caused by other organisms implicated in congenital CNS damage (eg, cytomegalovirus [CMV] and Toxoplasma).

Group B Streptococcal Meningitis (GBS) is a form of Meningitis caused by the bacteria Streptococcal. This bacteria is usually found in the vagina, bowels, and back of the nose and throat. The bacteria can spread to the baby before or during birth.

Commonly associated with neurologic symptoms. Most ofter stupor and irritability.
Between 25% and 50% of neonates will exhibit the following neurologic signs:
  • Seizures

  • Bulging anterior fontanel

  • Extensor posturing or opisthotonos

  • Focal cerebral signs including gaze deviation and hemiparesis

  • Cranial nerve palsies

Bacterial meningitis in neonates almost always occurs with sepsis but is difficult to distinguish clinically from sepsis alone; both present with a constellation of symptoms that indicate systemic illness. Therefore, treatment is started on the basis of presumed infection rather than proven infection.

Aggressive antimicrobial intervention is lifesaving in neonates with suspected meningitis. Because distinguishing viral from bacterial meningitis is difficult early in the clinical course, a combination of agents is often necessary, providing coverage for both types of infection. The duration of therapy for bacterial and herpes simplex virus (HSV) meningitis with an appropriate agent is typically 14-21 days.

Most of the above information was found on Medscape

MFA- Meningitis Foundation of America:

Our Story:
My name is Stephanie my husband is Fausto, we have two wonderful kids together. Nicolas is 29 months old, he a ray of sun shine and keep me holding on strong threw a lot! Alaina is 20 months old, she is our angel and miracle everyone calls her princess! Just in case your wondering no they are not twins, we get asked that one a lot.

Our story starts almost two years ago. Nicolas was three months old and I swore I thought I was pregnant again. I went to the doctor and was told I just had a bad kidney infection put on medicine and sent home. As time went on I was still getting positive pregnancy test and was told it was because of Nicolas and breast feeding. I was having all kinds of problems with bleeding and everything under the sun. But every time the doctor just put it back to my pregnancy with Nicolas. Between July and Augest I had been to the doctor's and emergency room at least 20 times. Then in the middle of September the doctor did and ultrasound to shut me up and sure enough I was right! She said I was about 25 weeks. Then I started asking why was I bleeding so much and she told me I had brused cervix, but the baby was fine. I didn't like that answer at all I had never heard of that before! Then she gave me medicine to stop contractions and told to make an appointment and told to just take the pills if I felt more contractions, not to worry about coming back in for them. I was not happy at all! I called that same day and found another doctor. I got in the next week to see the new doctor told him about everything he put me on bed rest until I saw him the next week for an ultrasound and lots of testing! If I started bleeding again or felt contractions go right to the emergency room. Sure enough on October 5, 2010 at around 8am I started going in to full blown labor not even a week after I saw the doctor. Fausto had left for work with the car already so I called him over and over for 45 minutes before he picked up. He picked his mom up on his way home to watch Nicolas and we headed to the hospital. (With his mom and Nicolas) I was rushed back in to a room and hooked up to monitors. I was in full blown labor at 27 weeks exactly. They started me and medicine to stop labor and did an ultrasound. By then my doctor was there and freaking out because he had not got to do any ultrasounds or test to see what was wrong. After one full round on the medicine to stop labor I was still in labor! Fausto left to take his mom and Nicolas to her house since they said I'd be there over night at least. About half an hour after he left my doctor came running in full speed telling the nurses to prep for surgery asap! I had no clue what was going on but I freaked! I called Fausto and told him to get back to the hospital and now. I was rushed to surgery 5 minutes before he got there. They did an emergency c-section. I don't remember much during the surgery other then people screaming and yelling and then I heard someone say 1 pound 12 ounces. I freaked out I didn't know if they were talking about the baby or something else!

I woke up in recovery with Fausto standing next to me with almost a blank look on his face. I asked what the baby was he grind and said its a girl, she is 1.12lbs and 14.5inc. I was excited we had a girl but freaking, babies are not supposed to be that small! I got moved to a private room where the doctor came in and told us what had gone wrong. My placenta had ruptured months ago and the baby was not getting much of anything and I was slowly bleeding to death. Alaina was worked on for hours before I ever got to see her I got 10 minutes to see her before she was rushed to the children's hospital over an hour away. Amazingly I got a call in my room from the children's hospital saying they were able to pull her breathing tube and she was doing great on cpap.

I was about to be sent home three days later when I started having chest pain. I was sent for a CT scan where they found I was suffering a pulmonary embolism. I was rushed to ICU and put on watch. With in hours I was put on heavy doses of blood thinners, pills and shots in my stomach twice a day. After a week and a half in ICU I was put back in a normal room but still my Med levels where not good enough to go home. Alaina had got sick with staph infection in her blood and had to be put back on a vent. I kept pushing to go home but between the three specialist only two were ok with me going the other kept me for another 3 days.

By the time I got out of the hospital Alaina was on the road of doing amazing! She was gaining weight and was sent back to where she was born to be closer to us. But after only a week back we got a call at 4 am the doctor called to say she was crashing and fast! At four and a half weeks old she rushed back to the children's hospital in critical condition. They refused to let us go see her because they had no clue what was wrong with her. All day long I called the doctors at the hospital and no one knew anything other then in was an infection. Around 6pm that night I got a call that crushed my world where I stood! She had late on set GBS meningitis and would not live more then 48 hours, but they didn't think she would even make 24 hours. We were told to come and say our goodbyes. The days went by and she was still kicking butt and taking names. After about two weeks she was back to not being swelled up. But that's when the damage started to show. She had a stroke on both sides of her brain, was having seizures, and so much more. But after five long months in the NICU and one brain surgery she was sent home.

She has had so many hospitalization since she came home I can't even count! We have spent months at a time in the hospital. In November of 2011 she started to decline, always having seizures at least 15 a day, never woke up was up to 15 letters of O2 a minutes, and just not doing good at all! We kept taking her in and after a few days they would send her home with some random diagnosis. In January she was still bad if not worse! We took her in and after ICU for a week she was sent home on hospice. I could do nothing but cry! We denied hospice from getting her as a patient and started setting up appointments with a new hospital. I knew there had to be someone out there that would help. In February she started coughing up blood but had not got to see any of her new doctors yet. But I took her to the new hospital anyway. She was admitted right away and they started testing for everything!

After three days in the hospital the pulmonary team asked if they could do a surgery to look at her airway and lungs, and take some samples from her lungs. We let them do it hoping something would be found! Sure enough two days later they came back and said they found something! She had a very rare bacteria infection in her lungs and kidneys and urinary tract. She was in the hospital for two months well they worked on all of problems.

In April we brought home a brand new little girl! She has all the same health problems but they are now under control. She went from being mute to making as much noise has her big brother, she tries to sit up and stand up, she is off O2 most the time, has only had two seizures since February and all together is doing amazing. She is even starting to show off her sassyness!

In July she stopped breathing again and was life flighted to the children's hospital. Even after a few days on a vent she was having problems. She was given her first trach on July 20th. She is now off and O2 or other breathing type help. We are hopping to go home this week!

In total she has had two brain surgeries, two airway surgeries, tracheotomy placement, one stomach surgery, and an ear surgery. She has CP, hydrocephalus, feeding difficulties, hearing loss in both ears, vision loss in both eyes, mentally delayed, epilepsy, and much more I can't even think of right of hand!

Contributed by MOM Stephanie

Monday, August 13, 2012

Trisomy 14q 32.33

Both of our children have a rare genetic disease (we are told that we are the only known case) They have Duplication chromosme 14q32.33. It took us five years to get the diagnosis.

A chromosome 14 duplication is a rare condition caused by an extra segment of genetic materials from one of the body’s 46 chromosomes, resulting in extra copies of the genes present on that segment. The correct amount of genetic material is needed for normal growth and development.

widely spaced eyes, congenital heart defects, dental problems, mental retardation, growth problems, developmental delays, liver abnormalities, asthma, blocked nasal passages requiring corrective surgery (choanal atresia), an immune deficiency, a large VSD and genital anomalies In some cases, the hands had slightly unusual features, including a single palm crease, short or tapered fingers;Development was also affected, with moderate delays in mobility, low muscle tone (hypotonia) and walking achieved in the second or third years In babies with large 14q duplications, incurving of the fifth finger and overlapping fingers and toes have been seen and one baby had talipes calcaneovalgus (clubfeet), a positional deformity in which the feet point outwards and downwards. Among the unusual facial features observed were a prominent forehead, a prominent nose, a small chin and lower jaw, unusual ears, a protruding upper lip, a high forehead, fontanelles (soft spots on top of the head) that were slow to close, downslanting, widely spaced eyes and possibly sparse hair growth.

CGH ARRAY diagnosis trisomy chr 14q32.33

Treat each problem as it occurs.
No further information is available

Our Story:
Vanessa and Jacob Jennings are brother and sister that share more than blood, they both have Trisomy 14q 32.33, a very rare genetic disorder. So far they are the only known case of it.

Contributed by MOM Barbara- Read more about Vanessa and Jacob

Monday, August 6, 2012

Retinopathy of Prematurity (ROP)

Retinopathy of prematurity (ROP) is when blood vessels develop abnormally in the retina of premature infants. The blood vessels of the retina begin to develop 3 months after conception and complete their development at the time of normal birth. If an infant is born very prematurely, eye development can be disrupted. The vessels may stop growing or grow abnormally from the retina into the normally clear gel that fills the back of the eye. The vessels are fragile and can leak, causing bleeding in the eye. Scar tissue can develop and pull the retina away from the eye and cause blindness. High amount of oxygen can increase the abnormal growth of the blood vessels.

There are 5 stages of ROP.

  • Stage I: There is mildly abnormal blood vessel growth.
  • Stage II: Blood vessel growth is moderately abnormal.
  • Stage III: Blood vessel growth is severely abnormal.
  • Stage IV: Blood vessel growth is severely abnormal and there is a partially detached retina.
  • Stage V: There is a total retinal detachment.

ROP can not be seen by looking a a infants eye. It can only be diagnosed by a eye exam.

Treatment may include cryotherapy (freezing) to prevent the spread of abnormal blood vessels.

Laser therapy (photocoagulation) may be used to prevent complications of advanced ROP. The laser therapy stops the abnormal blood vessels from growing. It can be performed in the nursery using portable equipment. To be effective, it must be done before scarring and detachment occurs

Surgery is needed if the retina detaches.


Personal Story
Julia was born at 24 weeks and was the only surviving triplet. She spent 315 days in the NICU before she was strong enough to come home. During her time in the NICU she was on and off a ventilator and on high amount of oxygen for long periods of time. She had a trach put in at 6 months is hope of getting her off the vent and off high amounts of oxygen since her eyes were being affected by ROP. By the time she was 6 months old she had already had cryotherapy and many laser treatments on both eyes. She also had surgery on both eyes to try to reattach her retina's. Even though her ROP was caught early and treatment was started right away we were told our daughter was completely blind in both eyes. She is now 7 and doing great. She is blind but that does not stop her one bit from doing anything and everything a normal 7 year old would want to do.

Contributed by MOM Jodi

Monday, July 30, 2012


3-1/2 years ago Sydney started having seizures which turned into a constant twitch that started in her face and quickly spread over her entire body. After several hospital stays and trips to various institutions they have not been able to come up with a diagnosis or treatment. Sydney is 6-1/2 years old now.  We are not giving up hope.

Seizures, twitching in face, arms, hands, and feet, delayed development.

Every test under the sun!  Went to NIH Undiagnosed Diseases Program.  Numerous tests came back negative and only test left is a complete gene sequence, which we are still waiting on the results.

Ketogenic diet, several seizure medications, chiropractor, PT, OT, speech therapy, horse therapy

Recently, we found another little girl with the same symptoms through an article on CNN and the NYT. We are hoping that if we find enough children with the same symptoms it will point to a clue as to what is causing this and hopefully a successful treatment. We know there are others like her out there.

Contributed by MOM Carrie Marko to see more about Sydney here is a YouTube video her mom shared.

Monday, July 16, 2012

Trisomy 8 Mosaic Syndrome

Trisomy 8 Mosaic Syndrome - some of the cells in her body have 3 copies of the 8th chromosome.

Agenesis of the corpus callosum,dysmorphic facial features, low-set or abnormally shaped ears and a bulbous-tipped nose, eye abnormalities like strabismus and corneal clouding, bone and tissue abnormalities, various structural heart problems, palate abnormalities, hydronephrosis, cryptorchidism, mild to moderate mental delays, and deep hand and feet creases. These characteristics tend to vary widely from person to person.

Blood chromosome testing or skin chromosome testing.

No treatment for chromosome disorder.  Treatment is correction of medical conditions associated with the disorder.


Personal Story

Wow!  Where to begin!  I'm KiKi's grandma, and guardian.  My hubby and I have had KiKi since she was born except for about 6 months when here mom "took" her and her brother.

KiKi was born at 37 weeks and the first year of her life was spent keeping her alive.  Since then, she has done really well, except for her ears.  Because of the craniofacial deformities, she has constant ear infections with massive draining.  Surgery tomorrow (June 5) for I don't know, the 10th time maybe?

She just started walking over St. Patrick's day weekend. I don't think she has sat down since, she's making up for lost time.

She is functionally non-verbal. She has some sign language she uses and we are starting to use a picture board for her to communicate her needs/wants.

She is happy, loves everyone and in spite of all the hospitalizations and surgeries.  She is the love of my life (except for her brother!) and I cannot imagine life without her.

Here is the link to an interview I did last year for our local children's medical center radiothon.  The words and music are the interview, I added the pictures, hopefully this will give you an idea about how wonderfully perfect Kiki is!

Contributed by MOM Bea Hall to see more about KiKi, here is a YouTube video her mom shared.

Monday, July 9, 2012


Encephalocele - rare neural tube defects characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. The result is a groove down the midline of the upper part of the skull, or the area between the forehead and nose, or the back of the skull.

Symptoms include: hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain), spastic quadriplegia (paralysis of the arms and legs), microcephaly (abnormally small head), ataxia (uncoordinated movement of the voluntary muscles, such as those involved in walking and reaching), developmental delay, vision problems, mental and growth retardation, and seizures. Some affected children may have normal intelligence.

Usually encephaloceles are dramatic deformities diagnosed immediately after birth, but occasionally a small encephalocele in the nasal and forehead region can go undetected. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations.

Some encephaloceles are diagnosed in utero with ultrasound.  Usually an amniocentesis is also offered to detect genetic involvement.  A fetal MRI is the best test to understand brain involvement in the encephalocele.

Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Even large protrusions can often be removed without causing major functional disability (if the encephalocele contains mostly CSF). Hydrocephalus associated with encephaloceles may require surgical treatment with a shunt. Other treatment is symptomatic and supportive (palliative).

Facebook - Encephalocele mommies and daddies and Encephalocele Support

Personal Story

Our little girl, Grace, was diagnosed at 20 weeks gestation with an occipital encephalocele (the back of her skull).  It contained mostly CSF and approximately 10% of her cerebellum.  She was born at 39 weeks, weighing 7 lb, 1 oz and was otherwise healthy.  She had surgery to remove the (large) encephalocele when she was 5 days old.  She also had a VP shunt placed after she developed hydrocephalus when she was 2.5 months old.  She started physical, occupational, and speech therapies after her shunt surgery.  She is now 15 months old, and is developmentally delayed, but is meeting milestones at her own pace.  Other diagnoses she has are microcephaly and agenesis of the corpus callosum.

Contributed by MOM Karen - To read more about Grace check out her BLOG

Monday, July 2, 2012

Neonatal Alloimmune Thrombocytopenia (NAIT)

Strokes in utero from Neonatal Alloimmune Thrombocytopenia resulting in massive brain damage.

Cognitive delay, speech delays and epilepsy.

Blood test and CT and MRI scans of the brain and therapeutic evaluations

Speech therapy, OT PT special education since 4 weeks of age. Also horseback riding, social classes, behavior modification and medication for the seizures

Early Intervention, NYU Comprehensive Epilepsy Clinic and school district resources.

Personal Story

Chris was born term after 2 days of labor and 3 hours of pushing he had to have an emergency csection. Immediately after birth they knew something was wrong. Chris had a swollen head and petechial hemorrhages all over his body. He also had bruising from the birth.

They tested his blood and found that he had low platelets. They found that we had a condition that was called NAIT neonatal alloimmune thrombocytopenia. Basically it is a condition that is not screened for anywhere in the world except for Norway. It is where the mothers and fathers platelet "type" do not match and mom makes antibodies against the baby's platelets.  Her body sees the platelets as an invader.
Chris was not expected to live much past birth because of his brain damage. We were given a week, then when he lived past that, a month and then a year. They expected him not to walk or talk or even recognize us as his parents.

Ironically (through massive therapy) Chris hit all his milestones for his first year ON TIME!!!!  It wasn't until he was 2 years old that we realized that even though he could speak he had major trouble retrieving words. To this day he is very quiet and has to be coaxed to speak. He does however walk, talk, run, jump, swim, hike and rock climb, yes rock climb. He will never be in a typical school although he loves school and has made friends on his own. He will always be in a special education classroom but it is fine with us. Chris is a happy adorable 11 year old. He is a true miracle and overcame so much and blew his prognosis out of the water! We love him so much.

His brother was treated while I was pregnant and fortunately was born okay. Unfortunately this did not have to happen to Chris. Blood testing of mom and dad BEFORE getting pregnant would determine those at risk for a NAIT pregnancy. It has become a goal of mine to provide support for other families and push for screening and make it part of prenatal testing. NAIT can be treated and children do not have to be born with brain damage. I started the yahoo support group in 2002 and it has taken off!!! NAIT is now in one in every 500 Caucasian births and statistics say it is about 1-600 world wide in every population. We feel it is grossly under diagnosed since not all cases are severe and not all are with the first child. Some people have a 50% chance of NAIT while others have 100% due to genetics.

Contributed by MOM Stephanie Volpe

Monday, June 25, 2012

Aperts Syndrome

Aperts Syndrome is a multi-faceting condition caused by a mutation of a chromosome. Most mutations occur randomly, but then it becomes a dominant trait. So then the person affected has a 50/50 chance of passing it on to their child.  Aperts Syndrome occurs in 1 out of approximately 160,000 live births.

Aperts Syndrome is pretty obvious at birth as the child is born with webbed fingers and toes as well as a retruded midface. The plates of the skull tend to fuse together prematurely, putting pressure on the brain. Joints can be stiff or fused. Typically the middle knuckle is missing in all of their fingers. There can also be heart and kidney problems. Often there are vision and hearing problems as well. Many suffer from sleep apnea due to the abnormal craniofacial features and smaller airways. A high arched or cleft palate and overcrowded teeth are very common. Intellectual abilities vary.

Aperts is pretty apparent at birth, however, since it is a pretty rare condition not all pediatricians are able to diagnose it immediately.

Treatment for the various facets of Aperts Syndrome includes typically over 20 surgeries by the age of 18. Speech, occupational, and physical therapy also significantly help the child to function.

Craniofacial surgeries are done to separate the plates of the skull which fuse together prematurely (Craniosynostosis), draw the bones of the midface forward and reshape the skull. Oftentimes the child will wear a helmet to keep the top of the head from growing abnormally wide. Several surgeries are done to separate the webbed fingers as well as straighten out thumbs and big toes. Often a child will also undergo surgery to realign the eye muscles. Orthodontic work is also necessary. Many children also get a trach due to breathing issues.


Several groups on Facebook:!/groups/apertsyndromeawareness/!/groups/apertusa/

Personal Story

My son Matthew is a trooper! He is 6 years old and about to undergo his 7th surgery. This year alone he will have three surgeries! And yet the child keeps on smiling and laughing. He has an insane amount of curiosity and energy as well as mad problem solving skilz!

Matthew has had surgeries to correct his craniofacial issues, webbed fingers, bent big toes, and eye muscles. He also has progressive hearing loss due to the bones in his ears which are calcifying. Matthew's shoulders are out of socket, which decreases his range of motion. Sleep apnea has also been an issue for him, as well as a contributor to his ADHD.

Matthew's most recent surgery was in January of 2012 where metal distractors were placed in his head (and turned every day for 30 days or so) to push the bones in his midface forward. He had a trach while he was in the hospital, but was able to get it removed before being discharged. As you can probably imagine, the craniofacial surgeries carry the most risks.  This time around we experiences some of those... Matthew sat up the day after surgery and his trach slipped out and his airway started to close up. He also contracted meningitis while in the hospital.  Then a couple weeks ago he had to be rushed to the ER via ambulance because of airway problems.

It has been a scary road at times, but overall I am grateful for the blessing of raising my little miracle boy. He reminds me what is most important in life (the people!) and not to sweat the small stuff. Despite all the trials, we are so blessed!

If you want to read more of our story, check out my blog about my journey as a single mom of a special needs child:

Contributed by MOM Selena LaBerge- to read more about Mathew check out his BLOG

Monday, June 18, 2012

Chronic Mucocutaneous Candidiasis (CMC)

CMC is a less common PID (primary immunodeficiency) CMC is associated with a selective T-cell deficiency to Candida and a few related fungi, but otherwise their immune system is fine.

persistent Candida (fungus), infections of the mucous membranes, scalp, skin and nails, but not of the blood stream or internal organs.

The most common abnormal lab test is a negative delayed hypersensitivity skin test to Candida antigen, despite widespread Candida infection.

These infections respond to anti-Candida treatment but recur when the treatment stops.  A few CMC patients develop severe hepatitis or bronchiectasis. Treatment requires life-long antifungal medicines.

Canadian Immunodeficiencies Patient Organization-CIPO

Personal Story
Our two boys were just diagnosed with CMC, after years of unexplained illness.  Both have candida in their esophagus, our youngest is responding to treatment, our older son is not.

Contributed by MOM Erin H

Monday, June 11, 2012


Keean has struggled with absorbing nutrients, has damaged villi, doesn't respond to immunizations and can't tolerate more than 38ml's and hour or he throws up.  He does not act hungry and could go without eating for an entire day.  He also has chronic diarrhea. Keean would not eat enough to gain weight on his own and associates food with pain so he had a feeding tube placed in September.  At first he just had formula pumped into his J tube, but eventually was able to tolerate all his feeds through his G tube.

-Chronic diarrhea
-Lack of response to immunizations
-Damaged Villi
-lower muscle tone (can sit up and bare weight on his legs but will not pull himself up or sit in a crawling position for long).  Less strength in his arms than legs.

Keean has been tested for numerous diagnosis.  Some include:  Cystic Fibrosis, Microvillus INclusion, Auto Immune Enteropathy, Maple Syrup Urine disease, kidney disease, thyroid disease, immune deficienccies and has had an MRI to see if there was any visible cause of low muscle tone.  He has had numerous endoscopies where biopsy of his small intestine have been taken, but NOTHING has shown any sign of ANyTHING.  We have been to a geneticist and have had genetic testing and have donated many ounces of his blood looking for answers.

Keean has a feeding tube so he intakes enough calories to gain weight and is on previcid for reflux.  Because there is not yet a diagnoses, he is not being treated for any other symptoms.

Midwest Immunology Clinic, Children's Hospital and Clinics --Minneapolis and St. Paul, Neurology clinic, St. Paul Gastroenterology, Genetic clinic of St.Paul.  I have also found different online support groups through facebook.

Keean's Story
Keean was born full term weighing 6lbs 12oz and was 20 inches long.  When still at the hospital after birth he threw up, but that was considered "normal" and we were sent home after 2 days.  Keean lost 2 ounces before we were discharged (again considered normal).BUT when we went to our first check up he had lost another 2 ounces.  That started our journey of weekly weight checks.  He slowly became more irritable and was switched to nutramigen because they diagnosed him with a protein allergy.  He was tested for pyloric stensosis, had an xray and ultra sound of his stomach and of his heart and an upper GI.  The only thing that came of those tests was they noted his stomach was "slow to empty" and he had severe reflux.  Keean continued to struggle gaining weight and was puking numerous times daily.  He wouldn't eat enough to gain weight and if he ate 2 ounces he'd throw up 3.  At 2 months old we were admitted to Children's Hospital where they ran several tests (all of which came back negative). We had to force him to eat every 4 hours and pray he would keep it down.  While at the hospital he came down with the enterovirus and started malabsorbing sugar.  He was placed on a carb free formula and put on TPN because he was losing weight quickly  At 3.5 months Keean only weighed in at 9lbs. 8oz. which is less than 3lbs since his birth.  While at children's he had an NJ tube placed to help him get enough nutrients and   because it was down his throat made him gag and puke constantly so I insisted on a permanent feeding tube (GJ).  This was placed in September and when he was able to gain weight off a very high amount of calories of just formula and no TPN we were able to take out his TPN line and go home.  Keean continues to doctor because he has chronic diarrhea, damaged villi, a weak immune system and low muscle tone.  He has not been responding to his immunizations and will bare weigh on his legs, but won't put weight on his arms or pull himself into a standing or crawling position. He will be 10 months old on April 2 and weighs 17lbs 5oz and has not gained weight in over a month.  He has been puking more again and last week was malabsorbing sugar again. We are patiently waiting for answers or looking for some direction due to all sorts of negative tests.

Contributed by MOM Ashley Hanson

Monday, June 4, 2012

ESES - Electrical Status Epilepticus of Sleep

ESES - Electrical Status Epilepticus of Sleep is a rare form of epilepsy that produces subclinical (unseen) seizures during sleep. This type of epilepsy is characterized by the presence of generalized 1-3 Hz spike-wave discharges occupying 85% or more of the EEG of non-REM sleep.  Visible, clinical seizures may also occur, but not necessarily.

The epilepsy: The age at which the first seizure occurs ranges between 2 months (Dalla Bernardina et al 1989) and 12 years (Bureau 1995), with a peak around 4 and 5 years (Tassinari et al 1985). This event can be preceded by either normal psychomotor development or abnormal signs indicating pre-existing encephalopathy, such as hemiparesis, hemiplegia, spastic quadriplegia, diffuse hypotonia, and ataxia.

The seizure types occurring in the disorder can be both partial and generalized. They include unilateral or bilateral clonic seizures, generalized tonic-clonic seizures, absences, partial motor seizures, complex partial seizures or epileptic falls. They may occur during wakefulness or sleep. Tonic seizures, however, never occur.

The first seizure is reported to be nocturnal and of unilateral type in almost one half of the cases reported. At onset, the frequency of seizure attacks is low. At the time of discovery of the typical nocturnal EEG pattern, however, the epileptic seizures frequently change in severity and frequency. Absences and epileptic falls herald the appearance of continuous spikes and waves during slow sleep and seizure frequency increases, both during wakefulness and sleep. About 60% of patients also exhibit several types of seizures (Tassinari et al 1985; 1992).

Neuropsychological deterioration:  There is a constant and severe deterioration in neuropsychological functions associated with the disorder, and language capacity can be particularly affected. Patients also may show a profound decrease in intellectual level, poor memory, impaired temporospatial orientation, reduced attention span, hyperkinesis, aggressive behavior, and even psychosis (Jayakar and Seshia 1991; Tassinari et al 1992).

Motor impairment: Motor impairment, in the form of dyspraxia, dystonia, ataxia, or unilateral deficit, has been emphasized as one of the outstanding disturbances occurring in this syndrome (Dalla Bernardina et al 1989; Neville et al 1998).

The best form of diagnosis is an all night sleep study EEG.  A diagnosis may be given through a shorter sleep deprived EEG, but and all night study is best.

At this point in time there is no one drug in particular that works in every child.  Many times it is very difficult to find a medication that works at all.  In our specific case our daughter is responding remarkably well to Kepra.  Kepra is generally NOT one of the recommended medications for this type of seizure, but in her case it is working wonderfully.

Because this is a very, very rare form of epilepsy there is very little information out there.  Even many neurologists are unfamiliar with the disorder.  We were very fortunate to find a doctor who was familiar with and recognized ESES when he saw it.
There is very little information available on the internet that is not highly technical.  Here are a few of the most helpful web sites I have found:

Lily's Story
All I can say is that God was watching out for our little girl.  It is my very strong belief that this condition would have gone undiagnosed, possibly her entire life, if she had not had two actual clinical seizures this past summer.

We adopted our daughter at 16 months of age from China, aware that she had some fairly significant developmental delays.  She was at about a 3 month level developmentally when we got her and could barely hold her own head up.  She weighed 15 lbs.  She had the blessing of excellent care which made her condition that much more concerning.

We went through the standard battery of tests when we came home and the only things that showed up were obvious problems that we were aware of, 80% blocked ear tubes and bilateral club feet.  She didn't even register on the growth chart for weight or height.

A year went by and we made very slow but very steady progress.  A three steps forward two steps back kind of pattern, but she would always forage ahead.  We sought out a new pediatrician at that time because of our daughter's lack of weight gain.  She ate, and ate, and ate but gained hardly anything.  She went through several crazy growth spurts where she grew inches in height, but again, gained no weight.  Her muscle tone was very low to nonexistent adding to her struggles to move ahead.

The new pediatrician immediately diagnosed her as PDD-NOS (pervasive developmental delay - not otherwise specified) and Failure to Thrive and sent us for new, more in depth testing including a brian MRI and a complete genetic work up.  Because we have no family history he felt it was very important to do the genetic testing.

While we were waiting for those tests to come back Lily had her first febrile seizure.  My husband and I are both EMT's.  We see febrile seizures all the time, and while we were very concerned since it was happening to us, we knew that febrile seizures are very common and not really anything to get worked up about.  She went to the hospital and everything checked out fine.  She ran a fever for a couple of days and everything went back to normal.  Two weeks later another identical seizure, but no fever.  Luckily it happened in a hospital (I was in having surgery, go figure?!?!) so my husband immediately rushed her to the ER where they ran a CAT scan and did a full blood work up.  Everything was clear, they sent her home on anti-seizure medication.

At this point, however, her pediatrician immediately requested a consult with the Children's Hospital in Milwaukee Neurology Dept. to set up an EEG.  Once a child has a seizure that is non-febrile, or a second febrile seizure and EEG is standard protocol.
To make a long story short, they did the EEG and found "abnormal brain activity" while she was sleeping, handed us a prescription and said see you in 9 months.  Not pleased is a very mild description of my reaction to their concern for my child.

We immediately requested a 2nd opinion and were referred to the University of Wisconsin Madison.
While we were waiting to get in for the 2nd opinion we did continue to give the anti-seizure medication that was prescribed by the original ER doctor and neurologist.

We immediately, upon starting the medication (Kepra), began to see global improvements in our daughter.  Every single aspect of her being started to come alive, that is the only way I can describe it.  Cognitive, emotional, developmental, you name it, it improved.  Her strength and her weight both started to increase.
We met with the new neurologist last October for the first time.  After a 2nd EEG he diagnosed her with ESES.  Basically ESES causes conditions in the brain that make it as if the brain never gets to sleep.  The body may be sleeping like normal on the outside, but inside, the brain is having an electrical storm of massive proportions.   We all know what happens to us as adults if we don't get enough sleep.  Try that every night for your whole, short, little life when you are trying to learn and grow and it is a very, very bad outcome.

Thankfully we found this early.  Lily is thriving right now and has every chance at a full recovery.  She still has a lot of catching up to do, but God gave her a spirit of strength and determination that is unmatched by anyone I have ever met.  I just pray He gives me the strength to keep up with her!

Don't ever give up home on finding answers for your child.  God loves you and he loves your child.

Contributed by MOM Jennifer Thoreson

Monday, May 28, 2012

Ataxia Telangiectasia (A-T)

Ataxia Telangiectasia (A-T)  A-T is a progressive, degenerative disease that is rare, (approximately 500 children in the US).  It is a recessive genetic disease that combines the very worst symptoms of Muscular Dystrophy, Cerebral Palsy, Cystic Fibrosis, an Immune System Disorder and a 1,000% greater chance of getting cancer than the "average" child.  Children with A-T are usually wheelchair dependent by the age of 10 and rarely survive their teens.

Ataxia (wobbly, lack of balance), choreoathetosis, tremors, jerks, slurred speech, swallowing impairments, and apraxia, just to name a few.

Examination of the chromosomes.  DNA

There are currently no treatments or therapies for A-T.  It is fatal.


Lana's Story
Our Lana is a fighter...she's had to be.  She was born into a world of domestic violence, mental illness and drug and alcohol abuse.  When Lana was 15 months old, we were successful in getting custody of her, and her little brother, Alexander.   (We are her maternal grandparents.)

We knew something was wrong due to the way she walked.  At first, the doctors thought she had Cerebral Palsy...until her symptoms worsened.  It was then thought she had Tuberous Sclerosis.  When testing ruled that out, she was tested for Ataxia Telangiectasia.  Testing proved she had this devastating disease.

She began using a wheelchair and a Dynavox communication device at the age of two.  As time goes on, Lana's symptoms progress.

An MRI of her brain last April showed that the A-T has destroyed her cerebellum...the brain matter has been replaced by spinal fluid.  Lana's immune system failed in November of last year, and now, each week we give her subcutaneous immunoglobin infusions at home.

At age 8, Lana's A-T is progressing much quicker than most, as the drug and alcohol she was subjected to in utero have exacerbated the disease.  Lana's mother, our daughter passed away of a drug overdose on June 27, 2009 at the age of 27.

Despite everything, Lana is a beautiful, happy little girl who is in the 2nd grade.  She loves school and Brownie Girl Scouts and will soon begin cheerleading with a special needs squad.

Lana has been recognized by the Texas Legislature for her role in representing the disabled children of Texas in the fight to preserve Medicaid.

This past Saturday night, Lana was crowned Little Miss Wheelchair Texas 2012 and it is our hope that  she can continue to be an advocate for disabled children.  We are so very proud of our girl!

Contributed by MOM Teri Little - to read more about Lana check out her FB Page

Monday, May 21, 2012


Holoprosencephaly (HPE) is a congenital anomaly in which there is incomplete development of the brain. In utero, the developing forebrain (prosencephalon) fails to divide into two separate hemispheres and ventricles. Specifically, there is incomplete cleavage into right and left hemispheres; into the telencephalon and diencephalons; and into the olfactory and optic bulbs and tracts. Based on the level of cleavage, Holoprosencephaly is classified into 4 subtypes: Alobar, Semilobar, Lobar and MIHV.


Holoprosencephaly can range from mild to severe and is classified into four types:

Alobar Holoprosencephaly (severe)--where the brain is not divided and there are severe abnormalities (there is an absence of the interhemispheric fissure, a single primitive ventricle, fused thalami, and absent third ventricle, olfactory bulbs and tracts and optic tracts).

Semi-Lobar Holoprosencephaly (moderate)--where the brain is partially divided and there are some moderate abnormalities; where there are two hemispheres in the rear but not the front of the brain (there are partially separated cerebral hemispheres and a single ventricular cavity).

Lobar Holoprosencephaly (mild)--where the brain is divided and there are some mild abnormalities (there is a well developed interhemispheric fissure however there is some fusion of structures).

Middle Interhemispheric Variant of Holoprosencephaly (MIHV) -- where the middle of the brain (posterior frontal and parietal lobes) are not well separated.



Contributed by MOM Maria Valencia - to read more, please check out Maria's FB Page

Monday, May 14, 2012

CHARGE Syndrome

CHARGE syndrome is a recognizable (genetic) pattern of birth defects which occurs in about one in every 9-10,000 births worldwide. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. The vast majority of the time, there is no history of CHARGE syndrome or any other similar conditions in the family.

Babies with CHARGE syndrome are often born with life-threatening birth defects, including complex heart defects and breathing problems. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing loss, vision loss, and balance problems which delay their development and communication.
Major Features of CHARGE Syndrome (very common in CHARGE and relatively rare in other conditions)
Coloboma of the eye: Coloboma (sort of like a cleft) of the iris, retina, choroid, macula or disc (not the eyelid); microphthalmos (small eye) or anophthalmos (missing eye): CAUSES VISION LOSS

Choanal atresia or stenosis The choanae are the passages that go from the back of the nose to the throat. They can be narrow (stenosis) or blocked (atresia). It can be unilateral (one-sided) or bilateral (both sides), bony or membranous.Unilateral atresia or stenosis can be difficult to diagnose 50%-60%

Cranial nerve abnormality      
I - Missing or decreased sense of smell 90-100%
IX/X - Swallowing difficulties, aspiration  70%-90%
VII - Facial palsy (one side or both)  40%

CHARGE outer ear-  Short, wide ear with little or no lobe, "snipped off" helix (outer fold), prominent antihelix (inner fold) which is discontinuous with tragus, triangular concha, decreased cartilage (floppy), often stick out, usually asymmetric - >50%

CHARGE middle ear- Malformed bones of the middle ear (ossicles): CAUSES CONDUCTIVE HEARING LOSS Common

CHARGE inner ear- Malformed cochlea (Mondini defect); small or absent semicircular canals: CAUSE HEARING LOSS AND BALANCE PROBLEMS

Even though a gene for CHARGE syndrome has been discovered, the gene test is very expensive and isn't perfect -only about 2/3 of people with CHARGE have a positive gene test. Therefore, the diagnosis of CHARGE syndrome is still clinical - based on the medical features seen in the child. An evaluation for possible CHARGE syndrome should be made by a medical geneticist who is familiar with CHARGE. The clinical diagnosis is made using a combination of Major and Minor features. Major features are characteristics that are quite common in CHARGE syndrome but relatively rare in other conditions, and are, for the most part, diagnosable in the newborn period. Minor features are characteristics which are also common in CHARGE, but not quite as helpful in distinguishing CHARGE from other syndromes. They either are common in other conditions (e.g. heart defects), harder to diagnose consistently (e.g. typical CHARGE face), or may not be diagnosed until later (e.g. growth deficiency). Finally, there are "Other" features - these may be very important in terms of health and management, but are not very helpful in determining if a child has CHARGE syndrome or something else.

All are likely to require medical and educational intervention for many years. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations.


Burke's Story
Our son Burke was born with CHARGE syndrome. In the past 6 years of his life, he's undergone 8 surgeries and had multiple long term hospitalizations. Burke is a courageous, tenacious and loving little boy who has undeniably surpassed all expected "outcomes" that he was given along with his diagnosis of CHARGE syndrome. When Burke was 3 yrs old, we welcomed identical twin boys, Levi and Judah into our family. We are a bit crazy but have lots of support cause we need it!

Contributed by MOM Christina Nelsa