Help Tyler Fight Friedreich's Ataxia

***Currently Tyler’s insurance will not cover his visit to Children’s Hospital of Philadelphia. This hospital has the world’s largest FA clinic and top notch research. As of now the resources here are next to none other than keeping him comfortable until he potentially passes away. There is so much hope in giving him not only a life but a productive one if we’re able to get him to the right place. We haven’t stopped looking into grants and authorizations from his doctors here. Our first appointment is January 28 and I can’t tell you how hopeful and excited we are to visit Friedreich's Ataxia Center of Excellence***

Dave and I have a wonderful son Tyler who is 7 and the youngest of 6 and the only boy, so he’s pretty spoiled by his sister’s and he soaks it all up! As he’s gotten older we’ve noticed things just aren’t quite right, he’s always been extremely clumsy but it’s gotten worse. Not only has he been falling more just walking, the school reached out because they were worried about him potentially falling down the stairs. During the phone call with the teacher we were both putting pieces together and knew we needed to look into this. He has always had bad handwriting but it’s since gotten worse and he refused to do any school work that involved writing because it “hurts his hands” and his hands are “too tired”. We were sent to occupational therapy for his handwriting but his therapist noticed all kinds of things that we have always brought up to his PCP but it was always swept under the rug. His therapist was less concerned with his writing and more interested in loads of other issues she discovered. I believe we were so blessed with his occupational therapist because she put together so much for us to take to neurology.

We saw neurology on September 10 and while in the office we were told to go to the hospital immediately to rule out a brain tumor because of how fast his symptoms were progressing. It was truly fight or flight for the 4 days we were there. There was a team of 6 doctors, one who was the director of the neurology department. Tyler was so brave throughout the entire process and became the funniest kid on the floor, he would have new jokes for his nurse every time she came in. Since he is so fascinated by science he was actually excited for his MRI and how the whole process worked. Once we got the wonderful news the MRI showed no tumors he then had to have nerve conducting tests done. The motor nerves worked, but we knew something was wrong when they were searching for any kind of reading from his sensory nerves. They’re shocking my baby and he felt nothing.

To my surprise we were told Tyler can go home and return to normal activity…. I wasn’t happy with this what so ever! Looking back I’m so grateful that I stood up for Tyler and advocated for the doctors to do more. They agreed to do genetic testing. We got the phone call that rocked our entire world. His neurologist started it off with “I was was hoping I was wrong but I wasn’t” my heart sunk! Tyler has been diagnosed with a very rare disease called Friedreichs Ataxia. It’s a recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination (ataxia). Symptoms include:

Ataxia

Slurred speech

Heart conditions

Scoliosis

Lung problems

Fatigue

Diabetes

Vision loss

Hearing loss

Low body mass

Muscle pain and stiffness

Difficulty swallowing

Urinary/bowel issues

Osteoporosis

The entire conversation was terrible. She told us they tend to not live longer than their teen years and how she will provide hospice for him when that time comes. There are somewhere around 15,000 people in the world who have this disease, so basically they don’t really know how to handle it. That’s when mom mode kicked in and I wasn’t going to accept this. My friend found a hospital that has the BIGGEST FA clinic in the world. The hospital is in Pennsylvania. I sent them my info and surprisingly they called me the next day. It was the director of the FA clinic, and with one phone call I can honestly say it gave us so much hope that we may be able to give Tyler a fighting chance. He explained that yes this is progressive, but every patient is different and he actually has a 91 year old patient. I lost it, I was just so happy to hear this. He has patients that are doctors, lawyers and one who is a member of congress that writes the ADA rules for the House of Representatives. He told us that he would like for us to come to the hospital so he can take a look at Tyler, and we will be heading there January 28. His insurance will NOT cover his visit, as it is out of network. Regardless I will find a way somehow to get my baby there. There is one drug that was released last year for those over 16. It’s been shown to slow their progression down a lot. This new doctor is thinking by the summer it’ll be released to kids 2 and up.

We know things are going to get harder for Tyler, we have already had to order him a wheelchair. He is showing more symptoms, he’s lost his sense of smell, he tends to choke a lot more, he pushes himself very hard (their muscles work 5 times harder than ours) so he’s really tired. His tremors are more noticeable, eating is messier than usual, I’m wiping him once he uses the bathroom because he will fall. He’s out of breath a lot easier now. He also has started to get scoliosis. Tyler has become depressed and often states that he can not do what other kids are doing, I just put him in therapy because the last thing I want is for this happy boy to stop living his best life.

The future is extremely scary and we have no idea what we are stepping into and it’s only just begun. We were told to start family therapy to help us and his sisters deal with what is happening and what could potentially happen. I mean how do you explain to your children that one day your baby brother may not be here? So I’ve taken a different approach and we are not going to accept that this is going to define Tyler. We are going to FIGHT! We are going to advocate and seek every opportunity that we can for him. Cognitively people with FA will continue to learn and grow, he is super smart and even if physically he is different I know he is meant for something BIG! It’s seriously the sweetest thing to watch him with his sisters, he is the center of their group. Being the only boy and the youngest one they are all very protective of him. As his Mom I don’t have another option, I am going to do everything I can to network, advocate, research, you name it I won’t stop. I’m going to continue to push Tyler to be as independent as possible, encourage him to always be his true self and never give up.

As of now we don’t know if insurance will pay for his visit to the FA clinic. The trip alone is unexpected and we aren’t sure how long we will be there for the initial visit let alone how often he will need to go back and forth. I am not one to be this vulnerable and ask for help but I can’t think of anything in this world I wouldn’t do to give my baby the best shot at a long life. I hadn’t even planned on announcing what was going on with him because it is just so sad but I also believe in prayer, and Tyler is a true believer. He could tell you more than I could about the Bible. The other day I asked him if he believed in Jesus and he said “of course he’s my lord and savior!”

I will continue to update everyone on his journey, he is just an all around amazing kid and even if you could take a moment to pray for him that is more than enough.