My Patient Story
State: New York
Congressional District: NY22
Neurological Disease, Rare Disease
Issues and Challenges
Sierra has encountered: Rare / Underserved Disease, Transportation, Disability, Medical Devices, Transparency in Health Care
My LIFE WITH SMA...
I have three children, Two boys- Kalen, 6, Kyan, 4, and a 2 year old daughter, Evalee. Kalen and Kyan are both affected with Spinal Muscular Atrophy, Type 2 and Evalee is unaffected. The boys both crawled but never walked, showing significant symptoms and regressing each between 12- 16 months old. We live in upstate NY, together with my husband Jared, on farmland complete with chickens, goats and horses. We live each and everyday to its fullest, as a family, and we laugh and smile as much as we can, appreciating every single moment that we have, and every memory that we create together.
Our first son Kalen was born 5 weeks early, on June 29, 2010 and spent a week in the NICU. He was already starting out his little life struggling. On July 4th, He was discharged a happy, healthy baby and we could not have been more elated to take him home and begin our life together now as a small family of three.
Kalen spent the first year of his life normally hitting his milestones and developing as he should. At Kalen’s first birthday party we explained to family and friends why our little Kalen, unlike the rest of the kids, was still not walking. "He just isn’t ready! He’s taking his time! He’s scared to fall!" By that time we had heard it... and said it all. But when he was just past 12 months old, instead of taking off, walking and running like his peers, he stopped being able to bear any weight on his legs whatsoever.
Along with that, he lost the ability to cruise around the couch, climb, stand against furniture and pull up on his legs at all. By 16 months of age we knew something was not right. Instead of "taking off," he was actually getting worse. We saw dozens of doctors for an entire year while we tested him for everything you can imagine. We were baffled, and so were the Doctors.
Then all of a sudden, just after Kalen's second birthday, when things hadn't physically improved, we had our answer. Our life changing answer, a Diagnosis.
Spinal. Muscular. Atrophy. In the blink of an eye, our family finally had a name for what we were up against.
Kalen was just 26 months when we received this news... Our horrifying, devastating, life stopping answer, that our sweet little Kalen had SMA, my innocent, beautiful little son was diagnosed with The Number One Genetic Killer of Children Under Two. My mind swirled with a million thoughts but one thing stood out,
The Doctor's words, "There is No Cure or Treatment, Nothing you Can Do. Make Him as Comfortable as you Can, for as Long as You Can. It will not only affect his legs, but will move on to weakening his arms, and ultimately the ability to swallow food or even breathe independently." We were numb and Life Stood Still.
There was no SMA specific information offered, no mention of types by the Doctor, no referral to a specialist, and no hope given for any kind of future. I didn't know how I would wake up the next day, much less live through the next minute.
When Kalen was just over 6 months old we found out that we were expecting our second baby, and at the time, couldn't be more excited to grow our small family, and give Kalen a little brother or sister to grow with. We were in bliss, unaware at what both of our children would soon be facing.
Our younger son, Kyan, was born in October of 2011, when Kalen was 15 months old and amidst his year of testing. It was still unknown to us what could possibly be happening to Kale, and we had no idea the gravity that would soon become our situation. Kalen continued to crawl, but did not have any use of his legs for close to the entire year that we tested- while Kyan seemed to develop normally behind him, hitting all of the typical physical milestones that he should have and we never considered that he too could end up showing the same mysterious symptoms.
When Kalen was 26 months, Kyan was 11 months old and as of yet, not showing any concerning symptoms. Although once we received Kalen's heartbreaking diagnosis and were told that it was genetic, we knew immediately that we had to test Kyan. We found out just one short month later, one day before his first birthday, that Kyan too had inherited the progressive, so far untreatable, terminal genetic disorder.
Jared and I as Parents, as a Married Couple, as Friends and Simply as Human Beings were beyond despair. We felt sadness, confusion, anger... and we could not even begin to understand or accept the diagnosis or prognosis of not just one of our children, but now both. As a mother, I felt absolutely numb, Out of control and as if my Life as I knew it was Over. And in a way, the lives that we knew before SMA were over, and would never, ever be the same.
In what seemed like no time our lives revolved around SMA. We became experts with the cough assist, turning the kids at night, researching at all hours, diet planning and supplement management. During sickness and at his worst, Kyan was requiring respiratory treatments every 4 hours- chest pt, cough assist, suction, inhaler, 02 monitor check and repeat. The kiddos schedule started to overtake ours with 5 PT sessions per child per week in addition to 3 OT sessions, Aqua Therapy and Hippotherapy. Our family has had more appointments at Doctors and stays at the Hospital than I ever thought possible in such a short frame of time. It was overwhelming how our lives had changed in the blink of an eye, our former life almost unrecognizable. I was horrified and I prayed for a miracle, in fact two.
Just 3 short months after the devastating diagnosis, Kalen became eligible for a clinical trial opportunity. Kyan was too young at the time to enroll so he wasn't able to. I didn't know what to expect, but I knew we had to go for it. The word terminal was all we had to hear to know that this opportunity was going to be our new path, and we were going to walk it together, united as a family.
We could hardly believe it, but Kalen was responding to the treatment. His legs started to gain strength, his arms weren't fatiguing as fast, and his neck more stable. Within weeks I noticed that instead of the slow decline that he was experiencing previously, that he was maintaining strength and even improving abilities in certain areas. I questioned more often times than I can remember, if what I was seeing was really happening to Kalen right before my eyes. It didn't take me long to trust myself, and most importantly him as he continued to progress.
We painstakingly waited over a year to be able to enroll our younger son Kyan into any clinical trial that he was eligible for. Everyday we watched him get worse, lose abilities and ache to be able to do the things his older brother was able to. Kyan could not longer crawl, stand up or bear any weight, had trouble sitting up at times and holding his head up for long periods, as well as a host of digestive and respiratory complications... his disease pathway traveled much faster than what we had seen with Kalen.
Finally our patience paid off and Kyan qualified to enter the study and again, our lives were blessed with an incredible miracle. Kyan began immediately making minimal improvements and it seemed that the disease had been stopped in its tracks from making him any worse. We observed Kyan "scooch" across the floor just a few days into the trial, which was the first time he had moved within space since his initial regression almost 2 years earlier! You can imagine our thrill and his too as his face lit up with his new found skill. Our favorite moments so far are him gaining the ability to reach the bottom of a yogurt cup with a spoon, pulling his own socks off, sneezing productively and drawing using enough pressure with crayons. The direct benefit my family has seen personally by being able to participate in a clinical trial, is nothing short of
At such a young age, the boys are absolutely the bravest little hero's we've ever encountered and we are overwhelmingly blessed, and proud to be given the gift of being their parents. The boys both attend school 8 hours per day, Kyan will be in Kindergarten and Kalen in First grade this fall! They ride the bus along with their friends and are pretty much the same as most kids... are happy go lucky, interested and curious, love to play games and go out for ice cream and pizza. They attend school full time, in their Power, or "Hero" Chairs as we call them. In addition to school, they both have 4 PT sessions per week each, 3 OT sessions, therapeutic horseback riding and water therapy. We also spend a lot of time in NYC as both the boys are in different phases of a clinical trial that takes place 4 hours away from our upstate NY home at Columbia Presbyterian Hospital. The fact that they are in different phases of the experimental drug trial means appointments on different days for each child, which often leads to multiple appointments and overnights in the city. Through all of these experiences, Kalen and Kyan have learned to be confident in themselves and their abilities, are outgoing and seem to make friends easily. They aren't afraid to ask for what they need and are both incredibly loving and caring towards others.
Kalen's favorite color is Blue, he loves Spiderman, hates vegetables and is the most kind and gentle big brother. Kyan can most often be found surrounded by all of his favorite stuffed animals, playing animal games on his iPad while hanging out in his Car bed. They are truly paving the way, and we just follow their lead. Having endured more than anyone should in a lifetime, they have embraced each other when need be and rely on each other. They are not only brothers but best friends. There for each other when no one else could or will understand. My husband, Jared and I feel overwhelmingly blessed to have been given the gift of being their parents, to have been sent down this path, to live Our Life, A Life Living with SMA.
My Motivation and Inspiration
So no other parents walks in my shoes!