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The rare and wonderful opportunity of parenting a child with a RARE condition

Becky Tilley’s son Joshua was diagnosed at 14 months old with a rare genetic disorder, Koolen-de Vries syndrome. At the time Becky was four months pregnant with her daughter, Avary, which left her anxious for both children’s futures but also gave her a new understanding of the challenges she had faced in her own life. Becky’s painful path to diagnosis has led her to an appreciation of the opportunity she now has as a RARE parent to encourage her children to value their uniqueness and to love themselves

By Becky Tilley, KdVS person, mama and advocate

My name is Becky Tilley. I live in the UK and am a proud wife to my husband, Carl, and mother to my three beautiful children: my eldest daughter Isabella (age three), my son Joshua (age two) and my youngest daughter Avary, who is eight months old. On 10 March 2020 my beautiful boy Joshua was born. His due date was 2 April so his early arrival came as a surprise. He was severely jaundiced and hypotonic so he spent 34 days in NICU (newborn intensive care unit) before coming home.

I had never heard of hypotonia before, but it was clear during Joshua’s newborn check that he had what is called floppy baby syndrome—the name speaks for itself—and from that formal diagnosis followed a year of various blood tests, scans and consultations to find out why Joshua had this rare condition. This was an emotionally exhausting process as month after month he went to hospital for tests but still received no diagnosis. The medical professionals asked if we would like to be the first family in the South West to try a tri-genome sequencing test, which involved a blood sample from me, my husband and Joshua, to see if any rare genetic conditions were flagged up.

On 11 May 2021 the phone call telling me the results came. Fourteen months after Joshua’s birth, the cause of his condition had finally been found: Koolen-de Vries syndrome (KdVS). This was a huge shock.  I had expected a diagnosis for my son; however, I had not anticipated being told he inherited the condition from me. This felt like a lot to process, especially as I was four months pregnant at the time, meaning Avary had a 50% chance of having the syndrome too. 

Soon after receiving the news, I sought help through CBT (cognitive behavioural therapy) and counselling to help me manage my overwhelming anxiety through the rest of my pregnancy. After the diagnosis Avary needed to have monthly MRI scans of her brain to keep an eye on her enlarged ventricles, picked up on her first scan by the specialist. This was overwhelming and extremely distressing: the unknowns around the future for my daughter and the upset from my son’s difficult past felt all-consuming. I was terrified about my daughter starting her life with the same struggles my son had with hypotonia.

After two MRI scans the enlarged ventricles went back to a normal, healthy size; she was also a happy, active baby so it looked like, just maybe, all would be well. As happy and beautiful as Avary was after birth—thankfully, she wasn’t diagnosed as hypotonic—there were a few signs that said to me she could be another precious Kool kid. Avary is long-sighted and needs baby specs (that she looks adorable in!), has long fingers and toes like me and her big bro, and she has needed physio as she was developing very similarly to Joshua physically, and still is. She is making good progress though, which is fantastic. All three children are very happy and smiley, and simply a joy to be with.

Becky Tilley’s son Joshua was diagnosed at 14 months old with a rare genetic disorder, Koolen-de Vries syndrome.
Becky Tilley’s son Joshua was diagnosed at 14 months old with a rare genetic disorder, Koolen-de Vries syndrome.
Becky and Avary

After being diagnosed I looked up the symptoms for KdVS and instantly saw things that rang true for me. A friendly, sociable and cheerful disposition sounded much like me, as I am very much a people person. Developmental delay is also another sign, and I had learning difficulties all through school. This made life difficult for me, both in the playground and classroom, during all my school years. I had additional support for both English and maths—I still find numbers a challenge now, but I am a passionate writer and I love reading too.

I remember my head teacher at middle school pointed out that for someone with learning difficulties I wasn’t afraid to put myself out there to make friends, and I am still very much the same now. I love spending time with friends and making new ones, being in the community, and meeting and connecting with new people. These are all a joy for me. I am a born nurturer so I love to encourage people however and whenever possible, which is a great thing for my children. With this in mind it is important to me that I show all my children how to celebrate their uniqueness, discover where they are strong and to do what they enjoy. All three of these, I trust, build their confidence.

I know what it’s like to feel like you don’t belong in this world, and funnily enough, having the rare diagnosis has actually inspired me to embrace what makes me different. It has given me a lot of purpose and motivation to be an example to my children of standing out—in a way that makes a positive difference and encourages others to celebrate their uniqueness. I want to teach them to be proud of who they are and have faith in themselves, and I actively work on this myself, so I am an example to them. I want to show the world that being who you truly are is a beautiful and wonderful way to live. 

What I would like other rare chromosome families to take away from my story is this. What you believe about who you are and what is possible for you will be what your children witness. So, if you want your children to believe the best about themselves, we need to be the example. We can’t control the challenges and struggles our children go through as a result of being rare, but we can control how we show up and who we choose to be, to support them through it.

Yes, your children may learn, develop, think and act in a way that is not the same as the majority, but by us rooting for them and cheering them on, supporting them in every way they need to thrive, they can learn to love themselves as we love them. I believe we all have a rare and wonderful opportunity to help our children, by encouraging them to shine brightly as the rare and one-of-a-kind stars they are.

Becky Tilley’s son Joshua was diagnosed at 14 months old with a rare genetic disorder, Koolen-de Vries syndrome.
The Tilley Family, February 2022

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