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Pelizaeus Merzbacher's Disease
Ryan suffers from a Leukodystrophy disease named Pelizaeus Merzbacher's Disease. It is a rare, progressive, degenerative central nervous system disorder in which coordination, motor abilities, and intellectual function deteriorate. The disease is one of a group of genetic disorders called the leukodystrophies that effect growth of the myelin sheath, the fatty covering-which acts as an insulator-on nerve fibres in the brain.
Onset of Pelizaeus-Merzbacher disese is usually in early infancy. Early systoms may include slow growth, nystagmus (rapid, involuntary, rhythmic jerking of the eyes)of which Ryan has, failure to develop normal control of head movement. Being non-verbal, experiencing spasms/tremors, various involuntary movements, grimacing, weakness, muscle contractures (shrinkage or shortening of a muscle) and over time legs, and arms become more spastic, and mental functions may deteriorate.
Ryan was diagnosed with this disease when he was 19 months old. Prior to this diagnose the doctors new something was going wrong but couldn't figure it out. Dr. Login-chief neurologist at Sick Kids Hospital in Toronto diagnosed Ryan. The diagnostic tool MRI showed there was severe symmetrical white matter-loss or lack of myelination. The opinion was that Ryan had a dysmyelinating disease, leukodystrophy, with servere cerebella atrophy. With the other symptoms of Ryan's it was concluded that Ryan's leukodystrophy disease was one of Pelizaeus-Merzbacher.
It's Effects
Pelizaeus Merzbacher's Disease has left Ryan totally dependent on others for all of his care.
Ryan is non-verbal and can no longer self propel his own wheelchair. He no longer can take anything by mouth; he now gets all his nutrition by a feeding tube - inserted December 2000(called a J tube).
In February of 2001 Ryan had an Interthgrel Baclofen Pump inserted. This pump has a catheter tube that goes directly up Ryan's spine and gives him a continuous drip of the drug called Baclofen. This drug helps manage Ryan's spastic tone and his spasms. Before this pump was inserted; Ryan would only sit for about 20 minutes at a time - he will now sit up to 3 hours at a time but must be repositioned onto the easy chair or bed to maintain his skin integrity.
Ryan has sleep apnea and was unable to use any of the apnea equipment on the market, so we just put up with the long sleepless nights!
Through all of this Ryan has always maintained a wonderful sense of humor and continues to try to live life to the fullest.
He is truly the greatest gift God has given us!
I hope this keeps you informed
To learn more click below to go to the Leukodystrophy site
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