By: Amy Studer, Mom of Reagan

Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families.

Like all great stories, ours began Once Upon a Time… My husband and I were so excited to finally get to meet our Rainbow baby in 2016. Reagan made her grand arrival in January and was a perfect tiny peanut. The nickname has stuck even now when we talk to anyone about her and they comment on her size compared to her peers. Yes, she is a peanut, but she is Mighty! 

Our rare disease journey began when every time we went to a well-baby check the doctors would show us the growth chart and Reagan was never on it. She had her own plan and was happy and healthy, but still, a peanut decided to create her own growth curve. We tried everything we could to help her grow but by her 2 year check up she still was off the chart. We were sent to an Endocrinologist to look deeper into what may be causing the growth delays. After lots of tests, we got her bloodwork which showed a possible deletion on her 17th chromosome. From there our list of doctors grew and the appointments piled up. In September of 2018, we got that call from genetics that confirmed she did have the deletion called Smith-Magenis Syndrome.  

There were so many questions we had. What will her future look like? How will she succeed in school? Will she be able to live on her own one day? Of course, we Googled, because everyone Googles! Not the best thing to do, but when your mind is racing and you need answers you want them fast. After speaking with genetics no one could tell us what to expect. Each case is unique and while they all have similarities nothing for sure could be told until she got older. So we went on to challenge her and treat her like any other “typical” kid her age. 

So where are we now… Reagan is a happy, healthy, kind, caring, sweet, and sassy 8-year-old. Our first big milestones since diagnosis were speech therapy and potty training (Boy was that hard, but we did it!) She went on to start preschool and is now in 2nd grade. She is thriving and reaching new milestones with abounding joy and excitement! We pushed for the IEP process to begin when she was 4 and had everything in place before she transitioned to Kindergarten. She receives intervention services in class along with OT and PT, but is doing wonderful in a gen ed classroom with her same-age peers. She is very active and participates in tap, jazz, gymnastics, and cheer along with loving to be out and about playing at the park or going to concerts. 

Reagan knows no boundaries as we challenge her to reach every goal she sets. She loves to try new things and wants to be in everything or she feels like she is missing out. Not every moment is sunshine and roses. We have had more than our fair share of challenging days, nights, moments, and outings, but it doesn’t change us giving her the best experiences we can. There have been so many tears, frustrations, sleepless nights, and thankfully we have a great support system that is willing to help out and check on us. Everyone that meets her can’t help but love her and if they don’t, Reagan makes sure they come around with her caring personality and endless questions. 

As far as the future, we take each day as it comes. We celebrate the big wins and little moments. We challenge and push her to reach her goals. We try and give her experiences to make her life full and happy. Nobody can tell us what the next years hold, but we will face them and conquer with a smile on our faces and hugs for days! 

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