First Appointment

On Friday January 27th 2012 we had our first Doctors appointment at Upstate Medical University Hospital with Dr. Joann Pellegrino. She sat down with us and had a very thorough 3 hour conversation and informed us on just about everything we could take in. We learned that the boys treatments would take place every week and would be at least 4 hour treatments each, but they would be able to walk around and play in a big room with lots of other children and adults that would be receiving the infusions as well. They will not be able to receive the enzyme infusion ELAPRASE until they undergo quite a few testing first including, MRI's, ECHO's of their hearts, ultrasounds, hearing and eye tests. The boys won't start to get better until they start on this treatment so we are anxious to get all of these appointments behind us.
Dr. Pellegrino was very impressed with their soft healthy looking skin, especially since Hunters Syndrome patients usually have dry skin with white patches. She also was impressed with their soft hair and straight teeth. The only concern she had disclosed with us was the limited joint flexibility in their elbows and knees. She said since this is such a rare disease and different with every patient that she can't say how severe it is based on their test results but by the way they are progressing individually. She also told us that the drug ELAPRASE will help with the function of their joints and help to reduce the size of their liver and spleen but may never be normal size. They should grow to a average height with this drug, but is unknown right now since the drug is fairly new with only being on the market for 6 years. The one thing it does not help with is their mental function. Our brains have a barrier to foreign objects and will not allow the drug to enter the brain. There are test studies being done in North Carolina and Europe where they are injecting it right into the spinal cord and they are having good results so far for it helping the brains function. Too bad they have special requirements of the patient being 3 years old and to already have a mental problem, otherwise we would be in one of those places. I'm praying that this method works out or even better a CURE!!!