Rylan is 5 years old and lives in Denver, Colorado. His mom says “He loves and is loved fiercely. It is critical to find treatment to continue Rylan’s growth. He has already taught us more about life than I could have imagined and he has a lot more teaching to do in his lifetime.”

A Message from Rylan’s Family:

When Rylan enters a room it is instantly filled with joy. He has a spirit of adventure and nothing stands in his way. If he wants to do something he will find a way. Every morning when he wakes up he asks “what we gonna do today?” Some of his favorite things are camping, biking, and dancing.

Rylan is our youngest son with an older brother and sister. We were thrilled when he was born and he appeared to be a perfectly healthy little boy. It wasn’t until a few months later that we started to notice that he couldn’t see us when we were talking to him in the same room and slowly we started to notice other things that just weren’t quite the same as our older kids. That was the beginning of a long road to find Rylan’s then mystery diagnosis.

At first we were told not to worry–he would grow out of it and catch up. He just needed more time. As we insisted more and more we began seeing every specialist and chase every lead to find some answers. Why did he fall so much, why could he not walk or talk or see like other kids his age? Why did he turn purple when he eats and drinks? For years we just chased leads with no answers. We eventually exhausted the series of specialists and testing options. We were told there was one more test–whole exome sequencing–that could give us an answer but that was pretty much the end of the line and the testing was very expensive and not covered by insurance. After multiple denials from insurance we were finally approved for the testing through our hospital’s board or directors. We then had another 4-6 month wait for results. At that point we just wanted an answer. Good or bad we needed to know.

It was December 27th 2018. I’ll never forget that day. Just after Christmas and Rylan had been battling a respiratory infection for a few weeks that he just couldn’t get over so I decided to take him in just to make sure we were doing everything we could. We weren’t expecting our results for another month or so. We were supposed to see a different Dr. since our’s was already booked but when our Dr. walked in the room I knew she had the results but my husband wasn’t with us. The results had just come in that morning and when she went to look at when we would be in next she saw we were coming in that same day so she made some changes to take our appointment.

I called my husband on speaker phone and the Dr. basically read the report to me because she had never heard of KIF1A and according to the genetics reports there were less than 12 people in the world with his condition and he was the only one with is exact mutation. I heard everything in a blur and I know she told me that KIF1A was degenerative, but I really didn’t hear it or understand what that meant until later. Having a diagnosis and an answer was everything we had been searching for. I went home and found KIF1A.ORG, and we quickly learned we were not one of less than 12 but one of about 80 at the time, and still to this day the only one with his exact mutation. KIF1A.ORG has given us a community after years of being alone.

Since then Rylan continues to bring us smiles every single day. He continues to learn new things and meet milestones we never thought he would (like jumping!!!). He loves and is loved fiercely. It is critical to find treatment to continue Rylan’s growth. He has already taught us more about life than I could have imagined and he has a lot more teaching to do in his lifetime.

Comments

  1. 1
    Trish on April 29, 2020

    Hello
    I’m not able to contribute but I’ll sure be praying for precious Rylan. As a parent, I can just imagine how difficult this is. May God bless y’all.
    Trish

Leave a Reply

Your email address will not be published. Required fields are marked *