My Koolen-de Vries Syndrome diagnosis: Differences are Worth Celebrating

by | Apr 1, 2022 | Blog, Patient stories|Rare disease world

This week’s blog is written by Becky Tilley, a KDVS mom and Kool person. Becky shares her experience of being diagnosed with the rare condition, Koolen-de Vries Syndrome, after her oldest son and now youngest daughter were diagnosed with the same condition. Becky’s story first appeared on the KdVS Foundation’s website. The KdVS Foundation educates, raises awareness and promotes research for the support and enrichment of individuals living with Koolen-de Vries Syndrome and their families.

Becky has set up a UK KdVS support group on Facebook and published a personal blog, which you can view and join today!

If you’d like to share your diagnosis story on our blog, email our Marketing & Engagement Manager, Blayne at

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 and was recently diagnosed with KDVS herself.

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 and 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 had a 50% chance of having KDVS and was recently diagnosed with the rare condition herself. We now 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 affects 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.

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.

Regarding our youngest daughter, Avary’s diagnosis, which we received in March 2022

I’m seeking out the blessings in having two Kool kids. Yes, it will involve double the challenges and heartache for their struggles, but it will also involve double the joy, pride and celebration at their progress and special daily moments that every child has when you see their uniqueness and personality shine through. Josh and Avary will have each other to understand their difficulties, and be a friend for the journey. Not only that, they have an amazing and wonderful big sister, Isabella, who joins Mummy and Daddy in rooting for them every step of the way.

I truly believe that good can be found in every situation if we make the choice to seek it out and have gratitude for what we find. I have no doubt that there will be extremely trying times ahead, but I’m taking the time to build my faith and attitude of gratitude to face it.