Kyle's Story - Rare Disease Day

Kyle’s Story

As told by Betsy, Kyles’s Mom:

“Our son has a rare condition (we don’t like to use the word “disease”) called Nablus Syndrome. It is a micro deletion of the chromosome at 8q22 and is characterized as a mask-like facial appearance along with other distinct malformations of the body. As of 2018, there were only 13 documented cases in the world. It wasn’t until our son was 12 years old, thanks to enhanced genetic testing techniques, that he was diagnosed with Nablus Syndrome. Although it was good to finally have a diagnosis, it did not change our course of treatment or our journey. What it did provide was an opportunity to connect with other families with this same condition. Unfortunately, with only 13 documented cases we were only able to connect with a limited number of families in the U.S. and internationally.”

“Rare is defined as coming or occurring far apart in time; unusual; uncommon. Rare is also defined by such words as extraordinary, unique, great, delicate and priceless and these are the words I would like to focus on. As occurring far apart in time or uncommon may be a good definition for a medical condition, words like extraordinary, unique, great, delicate, and priceless are more appropriate to define our son and the people and relationships that have helped us along our “rare” journey.”

“As a family with a child having a rare condition, we have watched our son overcome so many medical and emotional challenges and develop into this remarkable 21 year old. From the early years of being trach and vent dependent – living hour to hour, and day to day. Enduring countless surgeries, hours of visits with specialist and grueling therapy sessions. To the middle school and high school years enduring the emotional stress of life with a facial difference and having the strength to face each day bravely. To life after high school and answering the question – what’s next? In a world that doesn’t handle being different all that well. Along with all the highs and lows that come in between. Through it all, it has been the extraordinary qualities of my son that rubs off on family, friends and those he meets and puts him in the rare position of not only being the student, but at times the teacher.”

“Life as a parent of a child with a rare condition has been scary. There is limited information in the medical books or case studies to reference and many times we are the ones that are educating the doctors. There is no preparation in life for taking on such a role. Yet despite the 21 years of sleepless nights and constant exhaustion, the medical research done and discussions with families and support groups to learn all you can about your child’s condition – we’ve always realized we have been given the gift of a rare and remarkable child. We know the impact he has had on our own family and the positive impact he has had on our other children.”

“Life is put into perspective everyday we wake up and is filled with so many blessings, deep gratitude and the many incredible people we have met along the way. We embrace this journey as our calling and try to live each day giving him our all. So, as parents when we think of “rare” we do not think in medical terms, but think of how extraordinary, unique, great, delicate and priceless our son is and the “rare” opportunity we have to be part of his journey.”

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