Local Breaks 210 Bones in 29yrs Needs Power Chair

Hello,

My name is Kat and I have a rare genetic mutation called Osteogenesis Imperfecta Type 1

Osteogenesis Imperfecta happens because of a mutation in the gene that makes the protein collagen. Collagen is an important building block of bones.

Children may inherit the mutation from a parent. Sometimes, though, it is not inherited and neither parent has osteogenesis imperfecta. Instead, the change happens early in pregnancy when the baby is first forming.

People who have brittle bone disease are born with it. They either don't have enough collagen in their bones or the collagen doesn't work as it should. This makes their bones weaker and more brittle than normal bones. It also can lead to abnormally shaped bones.

The hallmark feature of OI is bone fragility, with a tendency to fracture from minimal trauma or from the work of bearing weight against gravity. In the more severe forms of the disorder, the bones are deformed as well as fragile. Most individuals with OI have significant physical disabilities. OI is a lifelong condition that varies greatly in severity, affecting bone quality and bone mass. The condition can also affect stature, hearing, skin, blood vessels, muscle mass and teeth.

OI Type 1 is the mildest and most common type of brittle bone disease. The collagen is normal, but there isn’t enough of it. People with type I have bones that break more easily, but their bones are usually shaped normally. The first bone break usually happens when the child starts walking. Fractures usually happen less often after puberty. The whites of the eyes (sclera) can have a blueish tint. They may also have hearing loss as adults.

I was diagnosed when I was 18 months old after countless trips to the local ER, one of the doctors referred me to Akron Children's Hospital. Within minutes ACH looked at the whites of my eyes and noticed that they have a blueish tint. From there on anytime I got hurt we made the trip to Akron. ACH set me up with Shriners Hospitals for Children to help the most with my conditions understanding and medical advice. SHC ran many cat scans, MRI , X-ray's trying to put my body together like a giant puzzle. That's exactly what my bones look like where I have broken.When I was around 4 yrs old I had a MRI done that showed 36 unaccounted breaks in my body. SHC wanted to break my legs and rod them because I was showing signs of bowing legs. Discussions were also made about the severity of deformities I have in my feet. They saw no future of me walking and expressed that they were believing I had type 2 and wouldn't live to see my tenth birthda

I eventually ended up at Columbus Children's Hospital under the care of a nephrologist studying a medication he was giving his patients that he noticed was also building bone density. He was running a trial and asked to test on me. Undergoing more tests we discovered I didn't have type 2 but I had type 1 instead. The most mild form of OI. I spent 13 years in and out of the hospital with switching the experimental medicine over the years. Hospitalizations stays anywhere from 3 days or more to maybe a full day and go home if I'm lucky. I never wanted to do the tests or experimental medications.. but being a child your choices are none.

Unfortunately my primary guardians did not have custody of me and therefore couldn't make those decisions for me. For doing the experiments there was a contract of payment. Those payments were never mine or given to my guardians. They were signed over to a absent parent who's only role had been exploiting me for money to fulfill her time putting up with my burdens. I had social security and more benefits as a child but again things couldn't be used as intended. The actions from the absentee parent financial gain has caused legal issues in pertaining my benefits as a disabled adult .

The experiment contracts included side effects that could reduce my well being and counteract my body's progression. Things like reversing my density into nothing and I'd pretty much be a bag of organs with no bone mass.

My breaks have always been something so simple as walking. Once I walked across the trampoline to get off the other side and split my shin vertically when I was around 3. In elementary school p.e I was hit with a basketball ball and broke my arm. In middle school I lost my footing fell to the ground trying to stop myself and broke my hand off my wrist. I had to have surgery to repair it, the surgeon didn't understand exactly how soft my bones were and broke my hand further trying to repair it. I ended up having a metal plate put in the palm of my hand. I couldn't return to school until after Christmas break.. I broke my wrist the first week of October. Over the winter I broke my foot and had a walking boot on. I was heading to my next class and fell to the floor breaking my hip. A month later I finally got to sit outside all healed up in my yard. I was walking back to house when I was knocked over by a dog. I broke my knee and leg. Was in a non weight bearing cast and wheelchair bound for eight months straight.

15 years later I'm still using the same chair, I'm 210 breaks in total, 5 surgeries so far..and no spinal / neck injuries..just 6 broken ribs.

I've always had a clear understanding that I'm different. I have to live my life the way it fits me. Once I was bound I had a new perspective on exactly how unaccessible the world really is. I've had been in walkers, crutches, and wheelchairs before but not for this extended period of time. My grandparents and immediate family came up with routines and tricks to make life accessible for me even if we didn't have the equipment we needed. We'd use a wooden wagon lined with pillows and blankets for transporting me when we couldn't get a script or coverage for what I needed. Now I'm to a point in my life those things can't work anymore.

We've always been aware there would be a day in my life where mobility would become harder. We've had the same manual wheelchair since I was first bound. It's getting harder for those around me to maneuver heavier equipment. As I age I've come to terms with the fact I'll need more assistance with everyday life. Custom chairs and equipment are expensive and often times not covered by insurance or government assistance.

Within the last year I've had to have two separate operations on the same ankle. With my past injuries affecting my limbs I'm only allowed to lift 10lbs since those surgeries. Wheeling myself manually oftentimes leads to small hand fractures or various stress fractures in my arms. With the most recent break 7/20/24 , I was prescribed to get a new chair. I asked if I could get an electric chair of some sort. That's when I was told it wouldn't be covered by anything. Often times you have to get a van or trailer hitch to haul equipment. That alone can cost anywhere from $5-35k.. not including the chair .

While at the medical equipment store I wanted to look for myself on pricing and go from there. My husband noticed a small compact electric chair that fits in a standard car trunk. We thought to ourselves how that would be so convenient in all aspects of what we were looking for. We wouldn't need modifications or a specialized van. It would also give us the chance to have more independence in everyday life. I wouldn't have to rely on someone always pushing me. Accessibility more places would be easier like simply going outside to the yard, to and from the car, the store, appointments and more .

We left the store and not even 20 minutes later they call and say I've been denied a manual chair. While still on the phone with the medical store OSU calls me asking me to come in the next morning to have surgery. I scheduled everything needed for OSU then had to sit with the fact that yet again I've been denied accessibility. My manual chair is falling apart after nearly 20 years serving as my primary source of accessibility when I am unable to walk. My baseline is walking but often times my body hurts or shows physical signs I'm unable to be that mobile. Now I'm non weight bearing again for 10 weeks and counting. That doesn't even include the time to learn how to walk again. By then it's snowing and a manual chair becomes dangerous for everyone. With the chair we looked at no one would have to worry about transferring me to the car or a chair. The arms lift up, I could pull up beside the chair and slide over manually or with a transfer board. Maneuvering over the rough terrain on our property and elsewhere, snow, ice,mud or shine would be easier.. Especially with the specialized tires and heights. Life could just be a bit easier overall. You don't realize how much you miss out on till you're not able to be physically present in moments anymore.

I'm reaching out to ask for donations of any kind to help purchase the compact chair. This chair would be used for when I can not be baseline. I primarily walk but in the event that I am unable to walk this chair would become my primary source of accessibility.

The chair we looked at at the medical store is a Jazzy Carbon Power Chair. The chair itself weighs less than 50lbs including the battery. Compact Power Chair

Thank you for taking the time to read this, I appreciate your time and efforts to be there for me. Anything and everything is appreciated, even if it's just good vibes <3

- Kat