The story of Adrienne
Every Valentine’s Day I celebrate with my family. It’s also a very special day because we received Stella’s diagnosis on Valentine’s Day. It’s a day full of emotions but also so much to be grateful for. I’ve never shared this before but I wouldn’t be where I am without the support of so many super hero parents. So if this can help one other mom out there like me, it’s worth it. Here’s Stella’s story…
My daughter Stella was born in April 2014, a healthy happy 8 pound baby – She took a week longer than expected to make an appearance. Looking back now, I can see this was her first way of telling us that she would move at her own pace! We left the hospital two days later, a family of four now. Our son had a new little sister and we felt blessed to have a little baby girl with a clean bill of health. The first year was glorious. Stella was growing, smiling, eating well, babbling, crawling and hitting all of her milestones. We were a normal family dealing with everyday problems.
In April 2015, Stella turned 1 year old. The theme of her first birthday was sunshine. She was the sunshine of our family and we couldn’t be happier. At this time we were eager for Stella to start walking. We got her a push toy to practice, she couldn’t stop smiling. She took her first steps behind her toy and I saw it. The thing every mother fears. “I immediately thought, that doesn’t look right”. Her legs were hyper extending and she was hunched over. I felt nervous, scared and at the same time hoped I was over reacting. Like most moms, I talked to friends and everyone had a story about how their child had strange movements when they learned to walk. Then I took her to the pediatrician. Everything “looks and feels” fine, but as a precaution let’s do a blood test and a micro array. Those came back normal, he says “let’s keep an eye on it”. At the same time I keep talking to family and friends trying to understand, hoping to hear someone who says, “yes my child had that”. But, when people don’t have the answer, all they can say is “it’s probably nothing, she’ll grow out of it, every kid is different”. No one’s ever going to say, maybe something is really wrong, maybe she has a rare disease.
I was lucky to have a dear friend who had a lot of experience working with children. I described to her what I saw and she came to see Stella. She could tell I was really concerned and didn’t want to admit it. My friend said to me very matter of fact, “this is what you’re going to do. You’re going to get her evaluated by specialists.”
We go to a pediatric neurologist and Orthopedist. The neurologist recommends an MRI, this is when we start to get really nervous, what could it be, would we finally get an answer? What if that answer is more than we can bare. Suddenly you’re lying in bed at night too afraid to say what you’re thinking. You talk to your parents and you can hear the fear in their voices, afraid to say what they really fear because they’re also trying to stay strong for you.
The results are in, the MRI is normal, but relief quickly turns to frustration again. The orthopedist recommends physical therapy, all along we’re praying this is going to help her get better and that any day now she’s going to walk, she’s going to get through this. The neurologist has no answers and refers us to a genetic counselor. She looks at me and says without any further direction from the neurologist, she doesn’t know what to look for. I feel my throat getting choked up with anger. It’s been a year and no one can tell us anything. I can barely keep myself composed. My daughter is now 2 years old and can’t walk, her legs are so stiff and her trunk is so weak. She can’t crawl the way she used to, she is getting stronger, yet her legs are getting weaker..WHY? The nurse looks at me, mother to mother and says, you’re not going to get answers here, you need to go to New York City.
The months go on and day and night we are researching, investigating and looking for doctors who may be able to help us. In between working fulltime, traveling between 2 states to doctor appointments, I’m also fighting for services I know my daughter needs, but I still don’t know why. I remain hopeful though, any day now she’s going to walk. We get extra therapy, leg braces, and development toys. Our lives become centered on how we can help her.
During this time of uncertainty, frustration and fear, I’m learning to become an advocate, both for Stella’s physical needs and her educational rights. We just need to find that one thing, that one thing that will help her. Meanwhile my husband is learning how to navigate our health insurance. We want to do everything in our power to help her and are quickly learning that most specialists are out of network, medical equipment, braces, and therapy have significant out of pocket costs.
Stella is now 2 ½ years old, she can’t stand and her crawling has regressed. Then one day our PT says to us, I think we need to start teaching Stella how to use a walker. She says she has one in her car. It’s a walker, not the toy kind, the medical kind. I lose it. Suddenly I’m facing a reality that I was not prepared for. How did we get here??
Our journey to find answers takes us to New York City. It’s been almost 2 years with no answers and it takes another 4 months to get an appointment but finally we see a chief pediatric neurologist specializing in neuromuscular disorders. He does an exam and talks to us about Stella’s development. Something tells me this is different…he doesn’t say much but seems to know more. He immediately orders a genetic test, a whole exome sequencing. He tells us it will take a few months to get the results but he seems more optimistic it will give us some answers.
February 14, 2017, Valentine’s Day. It was the day we would get the results of the genetic test. People asked me, how do you feel? We have waited almost 2 years for this. I couldn’t feel anything. How do you explain wanting to know something you may not want to know or may wish you had never heard?
The neurologist sat across from us and said he had the results. Stella has a disease causing mutation on her ALS2 gene. Then he started to explain, both my husband and I passed on a mutation to her. He diagnosed Stella with Infantile –onset ascending hereditary spastic paraplegia. IAHSP. It sounded like another language.
Infantile-onset Ascending Hereditary Spastic Paralysis (IAHSP) is a rare genetic disorder characterized by progressive spasticity and weakness. Symptoms usually begin before age 2 years with spasticity of the lower limbs. The spasticity increases over time and is accompanied by weakness eventually affecting the upper limbs as well.
Individuals are usually wheelchair dependent after age 10 years. This disorder can also affect speech, swallowing, and eye movements. Cognitive functioning remains intact. Usually life span is not shortened unless there are other complications.
Currently, there are no targeted therapies or drugs to specifically treat IAHSP. Physical and occupational therapies and other medical management are most effective at maintaining functioning. There have been only about 30 cases of IAHSP reported in scientific literature.
The next few months were the most challenging of my life. This broke me. I was angry, sad, fearful, and anxious. Then I realized, I was mourning a future I had envisioned for my daughter, it was almost too much to bare.
Then some hope, we found a specialist in Maryland who was treating 2 other children with this disorder. Stella is now 3 years old and after waiting another 4 months for an appointment, we traveled there. I realized after, I was hoping maybe they had made a mistake or maybe he would have the answer for how to fix this, it was an unfair expectation to have. We remained hopeful that perhaps they would research, would there be studies to find a cure. Surely someone is looking at this. Sadly due to the slow progressive nature of this disorder, they shared it’s unlikely there would funding for research. It was like a dagger in my heart.
I felt powerless, hopeless. Didn’t anyone care, why is this any less important than other disease?
By the grace of God and the support of family and friends, I made it through the darkest time and started to see more of the light. I have found my voice to be an advocate for my daughter and my family and a champion for rare disease.
Medical research funding is essential for developing new diagnostic tests and treatments for rare diseases. It is unacceptable to me that my daughter and others like her are being let down because funds are often scarce for research on conditions with such a small market. How is this “doing no harm?”
My daughter Stella is going to turn 6 in April and she’s the bravest person I know. She is my hero and I will fight every day, until I take my last breath, to afford her every opportunity to live her best life and to never have her feel like she’s being left behind.
Thank you for reading Stella’s story. My husband and I learned a long time ago that we can’t do this alone, it’s ok to ask for help and that’s what I’m doing here today. I am asking you all to take action for Stella and the thousands of other children and families like ours. No child, parent or person should ever have to fear that their disease is not worth fighting for.