Every parent of a child with a rare disease has a unique story to tell. So few will ever have the opportunity to relay their stories in the New York Times, Wall Street Journal, or Vanity Fair, not because their stories are not worth telling, or because other parents would not like to read them, but simply because they are not famous. Yet, their stories are often stories of triumph in the face of unimaginable hurdles.
At Rare Diseases Patients First! we are hearing some of these stories, because we are making it a priority to connect directly with parents of children with rare diseases, and patients with rare diseases. Today, I am pleased to be able to bring one such story to your attention. I believe it will give you hope if your child has a rare disease. Hope is important because most rare diseases have no treatments. A parent of a child with a rare disease must watch that child suffer, and feel utterly inadequate because they can’t run down to the local CVS or Pharmacy and pick up a prescription and make it all better. Even with the numerous organizations that have been created to represent patients with the 7000 rare diseases that we know about, so many of these organizations are unavailable at 12 O’clock at night, when you need someone to share notes with. “Am I doing the right thing?” Sierra did something about the isolation that many parents of children with rare diseases feel. She started an army of similar parents, and took on Spinal Muscular Atrophy (SMA) head-on.
This is her story…..
Kalen Adam Kulas was diagnosed with Spinal Muscular Atrophy at 2 1/2 years old, after a long and exhausting year of testing. Just one month later his younger brother followed. He also tested positive for SMA, a Genetic, Progressive and Terminal Disorder.
I immediately hopped online. I thought I have to find another Mother in my Shoes… Someone else has to be feeling like I am tonight. I searched on Google and found a handful of “SMA Support Groups,” all assuring they would help me along my path, my “journey” with this incurable disease, but in fact they didn’t. I posted my first question, Really a welcome to myself and a cry for help to anyone and everyone who would listen. I checked back a few minutes later, a couple of hours later, and then the next day. I was baffled… is SMA really THAT Rare that NO ONE is talking about it?!
I thought “Am I the Only One Sitting Here at their Computer, Out-of-their-Mind Crazy, Obsessing over Today, Tomorrow and the Future of my Children with SMA?”
I knew that absolutely couldn’t be the truth.
……….. I started my Own Support Group. I was discouraged, unhappy and unsatisfied with the “Support” that existed online when I needed it the most… and I set out to change that.
I needed a Name. My husband and I went back and forth, and finally decided on the Simple but Easily Understood “SMA Support System,” and our “Journey” truly did begin.
I started taking Time, A Lot Of Time… to recruit members, spread the word, post and share in other smaller support sites and attempt to form a group where I could not only rely on them, but they could rely on each other. I wanted to focus on current research and positive support at the forefront of our priorities, and in doing so connect families from across the Globe to answer each other’s questions, share advice on care, educate themselves and others and learn more about SMA than they ever thought possible.
I immediately recognized that in order to Beat SMA, We were going to have to Put up One Hell of a Fight and I Needed an Army.
Two years later, SMA Support System is the most Active, Largest, International Support Group Online for SMA, Period. With over 3,500 members we have educated discussion all day, every day, about all topics involved in Living with SMA – In over a Dozen Countries and in more than 5 languages. We recruit up to 20 members per week, have done up to 50% of the recruitment in our clinical trials, offer webcasts and links to further education and resources, and have formed hundreds of essential connections between families worldwide.
Check Out SMA Support System!
Administrator of SMA Support System
Sierra took part in Webinar 003 which began to address patient engagement in the drug development and clinical trial process. She asked some very astute questions of Dr. Whyte (head of patient liaison and engagement at the FDA). The next Webinar 004 will continue addressing patient engagement in the clinical trial process. We hope you will register to take part. Send an email to me at firstname.lastname@example.org with RDPF! in the subject line. I will then send you details on how you can register.
Lorna Speid, Ph.D.
Founder and President
Rare Diseases Patients First!