Our Journey With a Rare Disease

What would you do if you were told your child had a rare disease? That this disease has no cure and will likely take your child’s life in three to five years? This is precisely what happened to my husband and I a little over two years ago.

Our daughter, Jordyn, was born healthy. She always met milestones within normal range. It wasn’t until her first birthday that we thought something might be wrong. She developed tremors and was still primarily crawling as her mode of transportation. The tremors became so bad that even crawling became difficult. She began losing skills she once had.

She was tested through our state’s early intervention program and had many delays in gross motor development and speech. We had an EEG done that came back normal and an MRI shortly after. The MRI showed abnormalities of the white brain matter.

I still remember the day. We were sitting in a small room with Dr. Smyser as he was showing us the MRI results. He was going over what the pictures meant and the only thing I can remember is her white matter was too bright at the top and too dark at the bottom (or something like that). He said it was most likely Leukodystrophy. I was in shock, too stunned to cry. I just felt numb. The white matter specialist was grim. She told us we should hope for the best, but prepare for the worst. She said based on her previous experience, we had approximately three to five years left with our baby girl.

Genetic testing came next. They tested for Alexander disease because they were certain that’s what it was. I can still remember the moment I received the call. Jordyn and I were arriving at my cousin’s wedding around 6:45 pm on a Friday night. Her neurologist called and confirmed the positive results. All she could offer was an “I’m sorry.” I had little time to process it before I had to pick myself up and act happy for the new bride and groom. I parked the car and proceeded to bawl. Thankfully, Jordyn was too young to understand. I cried the hardest I’ve ever cried in my life. My mom came out and we just embraced each other. It was the first moment in this process I felt there were answers: the truth was out and there was no turning back.

Now what to do from here? Her local neurologists offered little in way of a plan. They said “wait and see” if she deteriorates. “You can do therapy” they said, so therapy we did. We got Jordyn into as much therapy as she could handle and we could afford. I searched all over the internet to learn more and find some support groups. I came across a Leukodystrophy page and Alexander disease page where I met a woman named Jenny who was the co-founder of an organization called “Elise’s Corner.” We became close friends and she told me about a research study that had just begun in Philadelphia. She said, “You have to go.”  We had an appointment two months later. Jordyn was (I believe) the second or third person seen in the study.

Dr. Waldman and the Leukodystrophy team at CHOP gave us the hope no one else had. They gave us a long term plan to treat and try to save our baby girl. They assured us they are working tirelessly to find a cure and won’t stop until they have done so.

Meeting Jenny and Dr. Waldman changed our lives. They gave me the push I need to continue fighting for not only Jordyn, but all the other children with Leukodystrophies. Currently, Jordyn hasn’t yet begun to show signs of regression. I know not every child is as fortunate, but we are all a family in this journey. I may not be able to save every child, but I’m going to do all I can to make a difference. I owe it to these children who have so much life yet to live and who continue to fight big and little battles every day.

Follow this journey at The Best Is Yet to Come.

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Getty image by Pimonova