- 4H Syndrome Hypomyelination-hypogonadotropic hypogonadism-hypodontia
- Interviews
Rachel's interview
How did all start?
My son was normal and healthy at birth. He walked late at 14 months and was somewhat clumsy but we thought he would grow out of it. at age 3 we noticed he was having hand tremors and was really wobbly when walking. He was falling a lot and not keeping up with his peers. He would also have periodic fevers that would send him into uncontrollable tremors that left him unable to walk.
We saw his primary doctor who referred us to a neurologist. They drew blood samples first which were normal. Then he had an MRI done. This showed hypomyelination and they suspected Vanishing White Matter, another form of Leukodystrophy.
We had a genetic panel done to determine the exact type of leukodystrophy. It showed a POLR3B mutation, which correlates with 4H leukodystrophy.
Do you already have a diagnosis? How long did it take you to get it?
It took us about 2 months to get a leukodystrophy diagnosis and another month to find out the genetic testing results.
For what medical specialties have you been treated? What has been the most useful specialty for your?
We have mainly done physical and occupational therapy to keep him as strong as possible and safe.
What has been the most useful thing for you so far?
Online community support and the wonderful researchers working to find a cure.
What have been your biggest difficulties?
Accepting that this is our life now. Therapies, appointments, praying he doesn't get sick because he may lose more of his functions. Watching as he struggles to do what a 4 year old boy should be able to do but gets so frustrated. Realizing the dreams I had for my son won't be reality. We have a new reality and I have to fight for him in a different way now.
How has your social and family environment reacted? Have your social or family relationships changed?
They are more strained. Initially after diagnosis we were flooded with support. Now it has waned and back to normal. We are supposed to function as normal when it's anything but. We don't go out as much because we try to avoid illnesses and our son can't tolerate a lot of stimulation.
What things have you stopped doing?
We avoid extreme heat. We stay in a lot more during cold and flu season.
What do you think about the future?
Its more uncertain but it's still hopeful. We have a beautiful son who is teaching us that life is short. He is teaching us to fight in the midst of heartache.
