- Sanfilippo Syndrome
- Interviews
Cara's interview
How did all start?
When my. son was 4 1/2 years old he started forgetting body parts and colors. He started having dificult behaviors and out bursts.
Do you already have a diagnosis? How long did it take you to get it?
It took almost a year and many different Dr's. We were admited to Iowa city hospital and a visiting Dr specializing I genetics visited and diagnosed him by his facial features. She said "look at him, he has Sanfilippo syndrome!" It was confirmed after more testing.
For what medical specialties have you been treated? What has been the most useful specialty for your?
Neurology, physical therapy, occupational therapy, speech therapy, cardiology, respiratory therapy, nursing/ home health, and behavioral analysis. The most helpful was speach/swallowing as he did. It want a g-tube.
What has been the most useful thing for you so far?
Gel thickener.
What have been your biggest difficulties?
Healing wounds and behaviors.
How has your social and family environment reacted? Have your social or family relationships changed?
Every relationship changes. Strangers were supportive, and long time friends were stand oafish. They did not know how to handle what we were going through. School and hospital staff were very helpfull.
What things have you stopped doing?
We no longer attempt a schedule. We allow him to dictate how the day will progress depending o his ability for the day.
What do you think about the future?
As he has now passes our future is very different. We did not plan I to the future while he was here as his health dictated what we were able to do and where we could go.
So far, which years have been the best years in your life? What have you done during them?
We discovered as long as we had more adults to assist there was very little he could not do. Utalizi g as ma y staff as possible he was able to join in mNy school activities with his peers.
What would you like to do if you didn’t have your condition?
He was extremely active and it was disheartening as his body started to gove out and betray him.
If you had to describe your life in a sentence, what would it be?
He lived life to the fullest every day possible.
Finally, what advice would you give to a person in a similar situation?
Dont be afraid to accept help. Use what is available to make their life as full of experiences as possible.
