Life has a way of being unpredictable. It would be wonderful if we could always choose the road we want to go down, but sometimes it is chosen for you. Thus was the case when my daughter was diagnosed with Hereditary Spastic Paraplegia, a rare disease that robs a person of their ability to walk. The direction our family was heading in was suddenly and irrevocably changed forever.
Brianna was born five years ago today and for the first year of her life, she was a “normal” baby –cute and happy, hitting all of her milestones on time. As I look back now, I am so grateful for that year. We had one precious year where we didn’t have to live in the land of doctors’ visits & medical tests, diagnoses & misdiagnoses, internet research, seeking answers to questions I never thought I would have to ask. Ignorance can be bliss, and we were blissfully ignorant that anything was wrong that first year. Yet it soon became obvious that ignorance would no longer work for us. We started to suspect something was wrong around her 1st birthday as she always stood on her toes and never was able to stand independently, cruising and walking were nowhere to be seen.
So at the age of 15 months we had our first visit with an orthopedic surgeon who told us just to wait it out and come back at 2 years of age. Yeah right! When you know there is something wrong with your child the last thing you want to do is wait around. While we did pass some time, we ended up seeking a second opinion before then. MRI’s of her brain and spine came back normal, yet 3 days after her 2nd birthday she was diagnosed with cerebral palsy and we were told that our daughter would never walk normally, if at all. When we questioned this doctor about the CP diagnosis, he said “If it walks like a duck and quacks like a duck, then it’s probably a duck.” and sent us on our way.
Cerebral Palsy. She will never walk normally, if at all. These words seared through my brain, my heart was simply in agony. For while I knew there was something wrong with Brianna, I had mommy blinders on and I hoped that there could be something done to fix it, to make it better. Yet this doctor told us there was nothing to be done – no cure, no medicine that she could take to alleviate her symptoms, no surgery to make it go away.
We found the cerebral palsy clinic at the Children’s Hospital in Columbus, Ohio and she was scheduled in for a battery of tests by an array of doctors and therapists. Except for the obvious gross motor issues, she passed everything with flying colors.
Cerebral palsy didn’t really make sense to me. I had a healthy pregnancy and other than a scheduled C-section due to breech presentation, the delivery was uneventful. In that first year there was no indication that anything was wrong. While I may be biased, Brianna really is a smart little kiddo. A brain injury just didn’t seem to fit the bill, especially since the MRI of her brain was clean. (Although the doctor that made the initial CP diagnosis explained that the injury could’ve occurred early in pregnancy, and that the brain would’ve developed around the injured area making it invisible to the MRI). Fortunately the lead doctor at the CP clinic was open to exploring other possibilities and ordered some more tests. Seven weeks later we received information that she had a mutation on a gene that is responsible for a disease called hereditary spastic paraplegia (HSP). Although we had the answer in our hands, it was still several more months before it became definitive.
HSP is an umbrella for almost 30 different genes, yet the hallmark of the condition is progressive weakness and spasticity in the lower extremities. The most common gene mutation is SPG4, which typically strikes people later in life. Brianna has a mutation on the SPG3A gene (also known as ATL1), which is the early onset version and it is also a dominantly inherited disorder. Yet neither my husband nor I showed any symptoms and there wasn’t any history in either family.
We visited Dr. Craig Blackstone at the National Institutes of Health, where our genes were tested. We found out that neither of us has the mutation, it turns out that it is simply a spontaneous mutation in Brianna (hey, they have to start somewhere). Also, he contacted a scientist at Harvard who had recently completely a 3-dimensional model of the protein Atlastin, the protein which SPG3A codes for, and the location of her mutation indicated that it would affect the function of the protein. So armed with this new data, we were able to confidently move forward with the HSP diagnosis.
In some small way, I am grateful for the misdiagnosis of cerebral palsy. It was truly a tramatic time for my husband and me. Every parent wants the best for their child. A vision of their life takes hold in your mind from the moment you find out you are going to have a child. Then to be told that your baby will be disabled for life, before she has been even given a chance at it, is devastating. It is said that there are 5 stages of grief (denial, anger, bargaining, depression, & acceptance), something that is typically experienced when you lose someone you love. When you have a child with special needs, parents often go through those same 5 stages as they mourn the loss of the life they had envisioned for their child. And right after she was diagnosed with CP, we were definitely in mourning. We were coming to terms with the idea of cerebral palsy and working through our grief, when 7 weeks later we learned that HSP was the cause of my daughters problem, not cerebral palsy.
Truth be told, I was relieved when I learned this for I was suddenly filled with hope. Hope that a cure could be found because now the exact location of the problem was known: the DNA variant, the nucleotide position, the codon. Fix this and you can fix the problem. While I understand splicing away at genes is not necessarily something we are close to doing, nor is this the likely solution to the problem, we at least know where the problem lies, and this is the first step to finding an answer. And this gives me hope, which is priceless. I was able to start moving forward. We had our new direction.
Currently there is some basic science research going on with regards to cell biology and proteins affected by HSP, but there is no cure and no real treatment available. Botox injections as well as some muscle relaxing drugs (baclofen), offer some relief. Physical therapy can help strengthen muscles and orthotics can offer some stability. But in reality there isn’t much out there to help Brianna and others affected by HSP.
It has been 3 years since her diagnosis and for the most part she is doing well. About a year and a half ago, she started to walk short distances independently (see video below). She falls constantly, but the wonderful thing about children is that they get back up and just keep trying. Yet it is heartbreaking when she says that she wishes she didn’t have this problem with her legs. Or when she has friends over to play and they are literally running circles around her, and she says to you in tears that she wishes she could run too. It is awful to feel helpless as a parent, I just want to fix it for her but it isn’t that simple. Yet I have hope that a cure can be found, or at least better treatments to lessen the severity of this condition.
And so this road I never thought I would be on has taken me to new worlds. I started taking classes at my local Jazzercise center the day after her HSP diagnosis, at the time I didn’t know if I had this disease as well and I wanted to move while I could. It gave me a deep appreciation for so many basic things we take for granted every day. Jazzercise became a lifesaver for me and last year I became certified as an instructor. Last June, my husband joined the board of directors for the Spastic Paraplegia Foundation. And now my brother Jack is running in the Boston Marathon with Brianna as his patient partner. This is his first marathon and needless to say, I am so proud of him! It warms my heart to feel his support in helping Brianna. And I am inspired by all those that are running in this marathon to support rare diseases. Together we are strong. Thank you for your commitment and dedication!