Gabriel was born just shy of 34 weeks gestation, he was born a fighter. Gabe spent 2 weeks in the NICU and 3 days in a step down unit. All of his life he battled developmental delays. For the longest time we thought it was all part of him being premature.
Around the age of 3 Gabe was diagnosed with autism spectrum disorder. We began attending therapies and wrap around services. He has been in autism services now for 5 years.
Gabriel was diagnosed with Neurofibromatosis(NF), August 2013. We all knew that the possibility was there but wow I did not expect it to be this early. I guess it is normal to find it earlier, but with formal testing just now becoming part of the disease I was a bit shocked. We went to our local Children's hospital for what we thought were silent seziures. We are still trying to figure out what the abnormal discharges are. The neurologist decided to have an MRI of his brain done to reduce the exposure to radiation from a CT scan. The MRI results showed bright spots on his brain. With that the doctors began to look a wee bit farther into things coming up with the not quite yet formal diagnosis of NF 1. He had to undergo a second MRI the following day of his spine, optical nerves and brain stem simply because of the complications that can arise from NF. The second MRI revealed no spine fibromas. YAY! He had to continue the EEG for a while longer. After three long days of not being allowed to eat after midnight' then waiting to see when we could be squeezed in for the testing we were released to go home with NF clinic follow ups.
So what is the NF that I am talking about? It is an autosomal genetic disorder. English please? Basically that means that 50% of all cases are inherited.Around 1 in every 3,000 live births are effected by NF. NF comes with a whole new realm of things. Since NF effects nerve ending, mental delays, rapid grown of benign tumors he is carefully followed by a neurologist. Gabe currently receives occupational therapy in hopes that he will be able to write legibly some day soon. His psychologist suggested to find an electronic device for note taking at school, writing assignments etc. Gabe is also in physical therapy due to a bone cyst that was removed from his femur. He had to have rods, screws, and a allograph done. Currently he is equivalent to a 4 year old as far as gross and fine motor skills. Some of this if from the NF and some from his autism.
We are currently trying to get Gabe private speech therapy since he is only 1% away from qualifying to receive it through the hospital. He is also having some other tests done to rule out seizures, eosinophilic esophagitis , and some other learning issues.
- What Makes Me Unique:
- Neurofibromatosis Type 1
- 11 years old
- Armstrong Pennsylvania
- Contact Information: