When Jake was about 4 months old, his pediatrician noticed numerous café au lait spots and provided us with information about Neurofibromatosis (NF). We had never heard of NF, so we did some research and honestly didn’t think much about it; Jake seemed perfectly healthy.
At about 9 months, his diagnosis of NF was confirmed. In addition to the café au lait spots, his other symptoms included an oversized head and a bone deformity in his right leg (severely bowed fibula). No one else in our family had NF, so Jake’s case was a spontaneous gene mutation.
Right before Jake’s first birthday, he had his first MRI. We had barely made it home from the hospital that day when we got a call that we needed to schedule more tests because they thought he had an aneurysm. After many tests and scans, it was confirmed that he had a brain aneurysm. We met with a pediatric neurosurgeon and at that time it was decided that they would follow the growth of the aneurysm very closely. Over the next 10 months, Jake had two MRIs, a MRA, a CT scan, two angiograms and an EKG, all of which required him to be sedated. At 22 months old, Jake had brain surgery to have the aneurysm clipped to cut off blood flow. Since the surgery, all his MRIs and other scans have been clear!
From the point Jake began walking; he has worn a brace to protect his fibula bone due to the bowing of his leg. He has to get a new brace every 9 months. When he was 3, he had surgery to remove a piece of his fibula. That didn’t slow Jake down a bit; he was up running around as soon as his doctor gave him the okay.
Jake is currently in 5th Grade, and he still receives speech therapy for articulation problems. He also struggles with dyslexia, ADD, anxiety, and sleep issues.
Though Jake has been through a lot, you would never know. He is an extremely happy and active boy! He has a sweet, caring personality that is contagious. He has many friends, loves to be outside, enjoys playing with his brother, playing sports, playing drums, and cheering for Texas A & M!
We started attending the Texas NF support groups several years ago. It has been great to visit with others going through similar situations. Texas NF is doing a great job spreading awareness of NF and we are proud to support them in this and other efforts. For the past several years, Jake has raised money for the Texas NF Foundation and has helped spread awareness of the disorder by selling Cure NF/Team Jake bracelets.
We are truly blessed to have a wonderful, caring, and supportive family, plus incredible friends and a compassionate community who have been there with us every step of the way! We thank God for all of the amazing things he has planned for Jake.
Go TEAM JAKE!