Finding Purpose on an Unexpected Journey


Hi, my name is Becky. I am age 38 from the UK and am a proud wife to my wonderful husband Carl and mother to my three beautiful children: Isabella, age three; Joshua, age two; and Avary, age one. Myself and my two youngest share a rare chromosome disorder called Koolen-de Vries syndrome (KDVS).

I was age 37 and my son was just 14 months old when we received a joint diagnosis for KDVS. I expected my son to be diagnosed as he was hypotonic and had a 34-day stay in the NICU as a newborn with severe jaundice and feeding issues. To hear that I too came back as a match for the rare chromosome disorder, and that he inherited it from me, was an enormous shock.

Becky Tilley writes about her and her children's KDVS diagnosis.
Photo courtesy of Becky Tilley

My daughter Avary I was four months pregnant with at the time also had a 50% chance of inheriting the syndrome. Guilt and self blame, I believe, is a natural response to such news and embracing it is as part of the journey to acceptance is very important. I encountered a lot of painful, guilty, and fearful emotions before I came to terms with the diagnosis both for myself and my son. Thankfully, by the time Avary received her KDVS diagnosis in 2022, I had come a long way in adopting a hopeful and optimistic attitude regarding what Koolen-de Vries means for me, my children, and all five of us as a family.

I choose to look beyond the diagnosis to the wonderfully unique individuals we all are that having KDVS only adds to, rather than takes away. I always had a sense prior to being diagnosed that there was something different about me compared to most. I just always seemed to learn, live, think and talk in ways that aren’t like everybody else. After receiving and taking time to digest the news that genetically I am in fact rare compared to many others, I saw it as an amazing opportunity to view myself and what I have to give to this world purposefully and positively. The one thing in life I love to do the most is encourage others and help build them up. Especially when life, others, and even themselves tear them down. My passion for this comes from knowing what it is to be rejected, unwanted and unpopular. I encountered all of this during my school years as a kid with learning difficulties and later in a few work places too. It made me want to help others so they didn’t have to go through the same feelings I did.

This has only grew after finding an international support group for KDVS on Facebook soon after being diagnosed. I shared my story about my marriage, my children, and a few things I have achieved in life, such as a college diploma, as well as my son’s amazing progress. I found that combining my love to write and encourage allowed me to be a hope to a global community of rare families. I know this because it is what many have told me and I will be forever thankful they did. It showed me that having a syndrome doesn’t mean you can’t make an impact in this world for the better. As a child, I shied away from what made me different instead of finding confidence within it and this made me an easy target for bullies.

Becky and Avary, who both have KDVS
Photo courtesy of Becky Tilley

So now I put my everything in to showing my children the beauty, the strength, and the courage in expressing your uniqueness in the way that is true to you. I know that if I ever want my kids to celebrate what makes them who they are and to own it (even including my child that doesn’t have KDVS), I need to be their example and role model to show them how. I no longer hold back from being myself and living and loving in the way that is true to me, and the best part is that I have even learned to enjoy it. As a result, I continue making a meaningful and powerful impact in the rare disease community as an individual, mother, writer, and advocate. As well as writing blogs and articles and being a guest on rare disease podcasts, I have set up my own international support group for rare disease families called Mamas Heart. This is all part of celebrating and encouraging my own children so they can see their mama as a role model by being myself and most of all loving myself for who I am, which is something I deeply desire for my kids to learn.

What I want every rare parent out there to remember is that you have an extremely big role in your children’s lives, and in how they see and treat themselves as the uniquely rare and wonderful kids they are. You can teach them to celebrate what makes them different to many by giving that gift to yourself. Empower them by empowering yourself to see the beauty and greatness in your own uniqueness and expressing it to the fullest.

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