September 17, 2024

By Charles

Caitlyn is my 20-year-old daughter that’s now a junior in college at VCU, studying graphic design. She is one of the sweetest, gentlest people you’ll ever meet. Not once in her entire life have I even seen her yell at anyone. Caitlyn is also extremely smart and creative, and has a wonderful sense of humor. She was a gifted child. By the age of 2, she could read books and hold captivating conversations with adults. She also loves art and has spent her life studying and practicing it.

About two and half years ago (May 2022), she was diagnosed with having a leukoencephalopathy referred to as BANDDOS, which is an extremely rare genetic disease that causes brain abnormalities, neurologic deterioration, and a fragile bone structure. There is no current treatments or cure for this.

About 9 months before the diagnosis, nearly a month after Caitlyn turned 17, she developed a gate in her walk. After physical therapy didn’t seem to help, the therapist suggested seeing a neurologist. The neurologist couldn’t understand what was causing the issue either and ordered an MRI. The results came back showing damage to the white matter in her brain. Immediately after getting the results, the doctor had us take Caitlyn to the emergency room to check for stroke. After many tests, the doctors ruled out a stroke and told us to do genetic testing. About six weeks later, we received the devastating news.

After learning more about BANDDOS, we realized that it was the root of so many health issues that Caitlyn had throughout her life, both physical and psychological.

At the age of 4, for a period of 2-3 months she developed a limp and complained of joint pains. We ended up taking her to various specialists and that’s when we discovered her bone abnormality. Her bones are flask shaped (big on the ends and narrow in the middle). They classified it as Pyle’s disease. Her limping went away and we thought the only issue we had to worry was her breaking her bones, which she had a several times from relatively minor incidents.

At the age of 7, she was diagnosed with a lazy right eye and we weren’t able to correct it. Somehow, she was still able to create amazing works of art her whole life.

When Caitlyn turned 12, she started having dramatic mood swings, developed anxiety, and would harm herself (scratching and picking). We took her to counseling for about a year and she was able to get better.

Then around the time she turned 16, the mood swings, anxiety, and self-harm came back. This time there was also depression, sensitivity to motion (she got car sick all the time), extreme sensitivity to sound, and her voice had gotten quiet. So, we started counseling again. After about a year and half, the counselor ran out of techniques to help her and suggested seeing a psychologist. The psychologist diagnosed her with being on the autism spectrum. And that explained a lot of her mental health issues. This happened right in the middle of the time she was being treated for her walking difficulty, and we had no idea it would all be connected.

This is now about 5 months before the BANDDOS diagnosis, and Caitlyn started seeing a psychiatrist who prescribed medication to regulate her mood, anxiety, depression, and self-harm. We tried a number of different prescriptions and combinations. Some caused extreme tiredness, wider mood swings, acid reflux, or nausea. She was able to finally find a good combination after seeing a psychiatrist a VCU (after 10 months of trial and error from when she started with the first psychiatrist). Her mood is now very even, her anxiety, depression, and self-harm are in check, and her sensitivity to motion and noise are also nearly gone.

Since the BANDDOS diagnosis, Caitlyn’s condition has gotten progressively worse. She has been losing motor function in her right leg and arm, experiencing muscle spasticity (which can be painful) and is having more difficulty speaking.

Caitlyn can’t to walk more than 50 ft without fatigue or pain, even with the leg brace the doctors gave her. The condition causes her toes to be permanently curled (spasticity), so walking bare foot on a hard floor hurts and her toe nails can cut into other toes and cause bleeding, so she has to wear slides when she’s at home. To get to her classes, she has to use a mobility scooter. During her first year at VCU, she had a 2-wheel scooter and managed okay, despite a few falls. In her second year, her muscle control degraded, so she started falling more and we switched to a 3-wheel scooter. Even with the 3-wheels, she has toppled over several times because some of the sidewalks in Richmond (where VCU is located) can be in poor shape or severely sloped.

She has limited use of her right hand now, so she has to do everything with just her left hand. She’s normally right-handed so that adds to the difficulty. Putting on her shoes can take up to 10 minutes. Completing class assignments takes a lot longer for her versus other students because she can only type with one hand. It’s also frustrating for her to have to repeat herself many times because people have difficulty understanding what she’s saying because of her slurred and quiet speech. It’s no wonder she’s often tired and needs a lot of sleep.

Despite all of this, Caitlyn has maintained an amazingly positive attitude and a jovial sense of humor, and continues to push herself to do everything an abled-bodied person can do. She not only participates in several clubs, she’s also an officer in them. In her spare time, she like to design bags, buttons, and stickers which she sells on her own at local craft markets (bringing a small table on her scooter). She is also doing powerlifting, even competing in it. Even though she’s tiny – only 4ft 8in (which we believe is result of her condition), she is surprising strong. She requires adaptive devices to enable her to do the different lifts, but she can still do more weight than most others her size or even bigger. Last year (2023), she competed for the first time and was the first female adaptive powerlifter in the state of Virginia. And she’s doing incredibly well in school, maintaining a ‘A’ average every semester.

What Caitlyn asks for from people is empathy and a willingness to give those with disabilities the opportunity to participate in things like sports, clubs, travel and jobs, that able-bodied people take for granted. Allow more people to get around by making places more accessible by

fixing sidewalks, adding ramps and installing automated doors on buildings. Sometimes accommodations are needed, but to give those with disabilities a chance to enjoy more things and have a meaningful life is well worth it. We commend and are so thankful to VCU and USA Powerlifting Virginia for giving Caitlyn the chance and support to learn and do the things she loves.

What our family asks is for everyone, especially leaders in healthcare and government, to have greater awareness and attention to this and similar diseases in the leukoencephalopathy and leukodystrophy family so that more funding is put in for research that can find ways to stop the progression and possibly even cure these shattering diseases.