Today is Rare Disease Day. Chances are you didn’t even know this day existed. The main purpose of this day is to raise awareness in the general public and decision-makers about rare diseases and their impact on patient’s lives.
So today I’m writing to bring attention to the rare forms of Early Onset Scoliosis and Thoracic Insufficiency Syndrome (TIS). These complex forms can be hard to understand how difficult they can be and what kind of impact they can have on a child and a family, so imagine with me if you will…
– imagine your child having to wear a tight, hard plastic back brace covering his whole torso for 20 hours a day….every day…for eight to ten YEARS
– imagine your child living with real back pain every single day for what may be her entire life.
– imagine your child enduring years and years of painful spine surgeries aimed at just trying to keep a relentless spine from crushing her lungs and heart as she grows.
– imagine the large protruding and very visible rods and hardware in your child’s back actually breaking. Imagine a massive internal infection growing inside his body making him very sick. Imagine both of those issues requiring more surgeries, more scar tissue and making his skin worn so thin in areas he becomes even more susceptible to infections and skin problems.
– imagine your child having to wear a non-removable cast covering her torso. These casts are applied in the OR under anesthesia. They are changed out every 2-4 months. Imagine having to do this for years and years.
– imagine your child enduring these surgeries, aimed at protecting her lungs, but they don’t work enough at keeping her relentless spine at bay and it continues to bend and twist. And now your child has to be on oxygen for the rest of her life because her spine and chest wall has limited the development of her lungs.
– imagine your child’s spine continues to impact his lungs and nerves in his body and he ends up wheelchair bound, for the rest of his life.
– imagine your five year old not being able to get the life saving spine and chest wall surgery she needs in time and she dies because her spine ultimately crushed her lungs.
-Imagine your child’s scoliosis is a result of another complex and rare underlining condition that you don’t have a lot of treatment options or answers to because you have so many other medical issues to deal with
-imagine your child enduring spine surgeries, back braces, halo traction, living on oxygen, and being wheelchair bound for years but still dying an early age
-imagine the emotional and social toll all this can have on a child. Imagine how mean kids can be.
These are all things I see happen. All of them. I’ve seen numerous examples of all of these “imagine statements” in just the last few months. Last few months, not years. Many of these daily. Of course death is rare, thanks to modern medicine but it still happens. And despite the medical advancements early death still happens for some.
My life changed when I got my daughter’s diagnosis and the years since my need to learn and know more about a disease with many unknowns has lead me to so many families, new friends, and kids who are fighting battles significantly harder than what my own child has gone through. Their stories, their hardships, their successes, their happiness and their tears have changed my life just as Nora’s diagnosis has. In fact, their stories are what has probably driven me more. Because their stories could have been my daughter’s story too.
You see, before Nora’s diagnosis, I had no idea how scary and life changing something that sounded so simple could be.
Scoliosis.
I don’t like that word, at all, because too many people believe it to be a minor condition and are quick to dismiss it. What I’m talking about are these rare forms that are anything but minor.
You don’t see commercials with big stars raising awareness and money for this disease or the hospitals that specialize in treating it. There aren’t telethons or national 5k walks. Most people have no idea the green ribbon is for scoliosis awareness. But if you saw what I have seen, heard the stories I have heard, seen the tears stream down the faces of parents and kids, heard the cries of frustration, anger and the fear of the unknown you would be moved as much as I am.
Of course I would love to see anyone reading this or anyone who has followed my blog to donate to an organization dedicated to fighting this disease or helping families afflicted with it. I would be thrilled with that. But I know how and where people donate is very personal and let’s face it there are zillions of worthy causes.
So Here Is What My Ultimate Hope Is:
1. I hope on this year’s rare disease day you find a rare disease that speaks to you and make a donation to an organization dedicated to that disease. Visit the National Organization for Rare Disorders to learn more or make a donation here: http://bit.ly/2lQdQW4
Even though the U.S. spends $29 billion each year on medical research, thousands of diseases simply fall through the cracks. They don’t have celebrity endorsers, are burdened with tongue-twisting names or fall outside of popular research fads. As a result, far fewer federal dollars flow to researchers in these areas. BUT…
Rare disease affects between 25-30 million people in the United States.
One in 10 Americans is living with a rare disease.
Children represent the vast majority of those afflicted with rare disease
Only 5% of rare diseases have treatments
Research on rare diseases can often lead to advances in our understanding
of common diseases such as cancer, heart disease, diabetes,
stroke and other major health problems
As a whole, rare diseases represent a large medical challenge.
Combine this with the lack of financial incentives to treat or cure rare diseases,
and a serious public health issue is created
2. I hope my blog, my words, builds awareness and continues to help others out there all around the world. You can help not just financially. Help spread the word, share the posts, and build awareness about early onset scoliosis (a.k.a. infantile scoliosis) and congenital scoliosis.
If you’d like to make a donation to an organization aimed to helping children with complex spine issues here are a few wonderful organizations.
Children’s Spine Foundation http://childrensspinefoundation.org/help.htm
Shriners Hospitals http://www.shrinershospitalsforchildren.org/donate
ISOP (Infantile Scoliosis Outreach Program) http://www.abilityconnectioncolorado.org/infantilescoliosis/
You can make a difference. Be part of the change!
Nora's Journey with Early Onset Congenital Scoliosis 