Hi, my name is Becky. I’m from the UK. I am a proud wife to my husband Carl and mother to my three beautiful children, Isabella, age 3, Josh, nearly 2 years old who also has KDVS, and Avary who is 4 months old.
I received my Koolen-de Vries diagnosis at age 37, following the birth of my son Josh. He spent 34 days in the NICU ward before going home and was born with hypotonia. Thank God though, he is doing amazingly well and he is strong and energetic. He is a very happy, playful & affectionate boy. We also discovered during an MRI scan that he has an ectopic pituitary gland. We were the first family in the South West to be diagnosed with KDVS using a tri genome sequencing test. As Josh was diagnosed with KDVS, I was also tested and discovered I was also a Kool person.
After a year of various blood tests, scans and consults the diagnosis came as both a huge relief and a shock to the system. I expected a diagnosis for my son, however, was not prepared to hear I was the one that he inherited it from, especially whilst I was pregnant with my third child, Avary. Avary now also has a 50% chance of having KDVS. We are still awaiting a test to be done to know for sure if we have two precious kids with KDVS.
I went through a lot of intense feelings of guilt and anxiety, heavily blaming myself that Josh had a very difficult start to life because of what his Mama gave him. I researched KDVS to excess, even after being advised not to. I’ve learned now instead to just take it all one step at a time, reminding myself that KDVS is a spectrum and what effects one does not affect all. Self-blame was a major challenge for me to overcome and following a talk with a very supportive, understanding genetics counselor, and having support from those closest to me, I slowly but surely came to terms with our diagnosis.
Looking back the diagnosis made a lot of sense when I think about my own childhood, especially finding out that learning difficulties and having a friendly, cheerful disposition can be a part of the Syndrome. These both rang true for me, as much as I was always ready and willing to make friends. I learned differently than most others. This led to a lot of challenges both in the classroom and on the playground. I went to mainstream school and had additional support in both English and Maths. I still find numbers difficult even now but I’m glad to say my love for reading and writing has continued. In fact, writing has become a great passion of mine.
Now at the age of 38, I am still both very friendly and sociable, love creating and being part of a community as I’m very much a people person. I also love being a Mama of three and have made some wonderful Mama friends to share the journey with.
To any other KDVS parents, I would like to say this: Do not carry guilt and blame for having a Kool kid. Try to accept that going through these emotions is part of the process to accepting the diagnosis, to heal. Yes, your child may encounter challenges that given the choice, you would never want them to have to go through. You can’t control that; what you can control is how you choose to show up both for yourself and your child. Be their greatest support. Do and find whatever help is needed for them to thrive and flourish in their own uniquely wonderful way. Celebrate what makes them rare and see it as not what defines them but what adds something special to share with the world.
I feel the best part of being Kool is the opportunity to show the world differences are worth celebrating for the gift they are, that their uniqueness is a chance to change and challenge stereotypes of what it means to have a genetic syndrome. All people should be seen as valuable, helpful members of society, who have a right to opportunities and heard the same as everyone else, to challenge presumptions and judgments. Stand confident and strong as people with KDVS.
Becky Tilley, KDVS mom and Kool person