Mosaic Triploidy

Overview:
Mosaic Triploidy is a chromosome disorder where the person has an extra of every chromosome on some of their cells. There have only been 50-60 cases ever recorded worldwide.

Symptoms:
Syndactyly between 2 toes on each foot Small jaw Large head Low muscle tone Slow weight gain/failure to thrive Curved wrists and feet 2 types of scoliosis Low set ears Constipation

Testing/Diagnosis:
Amniocentisis at 19 weeks.

Treatment:
There are no treatments for the disorder itself. We treat the symptoms he has and will have. He sees physical occupational and speech therapy as well as a nutrionist. He goes to his pediatrician every other week for weight checks and goes to special care clinic once a month. In March he will have an MRI and body cast for the scoliosis.

Resources:
There is not much information. The most support I have had is from a group on Facebook.

Personal Story:
My son has Mosaic Triploidy. There are only around 50 recorded cases ever in the world. On November 1 2011 I took a pregnancy test because I had been having symptoms for a few weeks. My husband was adament that I was not pregnant because I had the Mirena IUD placed in 2009 and it is supposed to last for 5 years. The first as well as second test showed positive immediately. I cried all that day because I knew we just could not afford another child. Josh said not to believe it until we had an ultrasound showing the baby. We went to the doctor 4 times before we could see Castan. Everything went well other than he always hid from the heart doppler. AT 15 weeks I could not wait any longer to find out what we were having so we went to get a 3D/4D ultrasound done. We were ecstatic to be having a boy having 3 girls already and losing a son. At 19 weeks we went to my midwife for an anatomy scan. There we discovered that Castan was not growing correctly. His head was only 2 weeks behind but his chest and abdomen were about 6 weeks behind. I immediately started crying because I knew something was wrong. Josh tried to stay positive and told me I was just paranoid. Sue my midwife ordered that we go see the perinatologist. We went there that Friday. He insisted on an amniocentisis. He was pretty sure our baby had Down Syndrome. I was not sure if I wanted an amnio because I was scared of the results. He pressured us so we decided to get it done. 2 weeks later (at 21 weeks) he called us to his office. He told us that Castan had full blown Triploidy and would not live. He said I was too far along to "terminate the pregnancy" even if I wanted to. We were devestated. I did not like how he delivered the news so I got a second opinion where the doctor informed us he actually has the mosaic form of Triploidy and had a chance to live but would most likely be still born. This was was still not the news I wanted. I started researching everything I could get my hands on. I wanted to know everything about DTM. It is such a rare disorder that there is very little information out there. I joined a group of family members of babies with DTM. I started a fb page to show that we were not going to give up on him. My water broke at 29 weeks where we were told that Cas only had a 10% chance to live bc his lungs were not going to be developed due to my water breaking and him being so extremely tiny. On April 27 Castan was born weighing 1 lb 12 oz and was 14 inches long. From day one he has been a fighter. A few days after he was born his doctor told me he did not expect him to live. I did not understand because all of his tests had shown he was doing amazingly. The doctor said he would not live because he was "so small." I told him I chose to believe differently. The doctor tried to quote the statistics of full blown Triploidy to me. Full blown is incompatible with life and has the longest recorded case living to 10.5 months. Every statistic he quoted me I corrected. I did not want this doctor giving up on my son just because he did not understand his disorder. Today Castan is a little over 7 months old. He is 5 lbs 8 oz 19.5 inches long. Every day he amazes me. The doctors told me he would have extremely low muscle tone and would develop way slower than "normal" babies. He started rolling over about a week or so after we got home which they said he would not do until 7 or 8 months. He smiles. He coos. He does everything a normal baby can except hold his head up and sit up. He also grows very slowly. In 5 months he has not even gained 5lbs

Contributed by MOM Christine Brown. For more information click HERE.

Chromosome 3p Deletion Syndrome

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

Symptoms:
Heart

• 2vsd


• asd


• pda


• enlarged left chamber

Orthopedics

• 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

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

Treatment:
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.

Resources:
Chromosome Disorder Outreach
Unique
Office of Rare Disease Reseach (ORDR)

Story:
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

Congenital Hypomyelinating Syndrome

Overview:
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.

Symptoms:
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.

Testing/Diagnosis:
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.

Treatments:
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.

Story:
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

Undiagnosed

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

Alstrom Syndrome

Overview:
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.

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+

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

Treatments:
Treat each disease/disorder as it arises and progresses

Resources:
www.alstrom.org
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

Pitt Hopkins Syndrome (PTHS)

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

Symptoms:
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.

Tests/Diagnosis:
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.

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

Resources:

• Chromosome 18 Clinical Research Center - Dr. Janine Cody


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


• www.pitthopkins.org


• 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

Leukodystrophy

Overview:
Leukodystrophy (unclassified type)

Symptoms:
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.

Tests/Diagnosis:
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.

Treatments:
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.

Resources:
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