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