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