Author: Becky TilleyPatient or Advocate: Becky TilleyDisease Affiliation: Koolen-de vries syndrome

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 9 months. Myself and my two youngest share a rare chromosome disorder called Koolen-de Vries syndrome.

This was officially diagnosed 14 months after Josh was born with a rare condition called hypotonia (low muscle tone)  and severe jaundice, leading to a 34-day stay in the NICU ward (neo-natal intensive care unit). My son and I were both a match for KdVS following a tri-gnome sequencing test that we were the first in the South West to have done after a year of other various blood tests didn’t provide any answers. The test involved a blood sample from myself, my husband and Josh to see if any of us were a match for a rare genetic condition. At the time of diagnosis I was four months pregnant with Avary and told my daughter had a 50% chance of having the same disorder as my son and I. Our first born Bella is considered neurotypical and there was no signs throughout my pregnancy that Josh would be any different so it all came as a huge shock. Not only to discover he had a rare chromosome disorder but that it was inherited from me.

My daughter was also given the same diagnosis in April 2022 after I noticed at three months old she had similar symptoms of hypotonia that Josh had at that age, it just took longer to manifest as there was no signs of it at birth like her brother had. Not only that she also has long toes and fingers like myself and Josh and Avary is long sighted, requiring baby specs to help prevent her eyes from turning inward. All these signs led me to request a blood test for Koolen-de Vries and sure enough a diagnosis was confirmed. It made me realise that sharing the same syndrome doesn’t mean you will share the same expression of it.

Growing up as a child in the 1980’s there wasn’t the knowledge of rare disease there is now & support, glad my two are growing up with a growing awareness of it in the world compared to my childhood  experience. I remember in particular two extremely frustrated teachers in my first school who were angry at the time it took me to learn compared to my peers. This led to more patient teachers telling me not to panic when learning something new and to take my time, as once I got something I got it. The truth is that I wasn’t unable to learn, I just learned in a different way compared to my class mates.

I was in special needs classes for both maths & English throughout my school years, I still struggle with numbers to this day but since childhood have always thoroughly enjoyed reading and writing. I am a published writer in the rare disease community through sharing mine and my children’s journey and find a lot  of passion and purpose in using it to be an advocate. A number of people have been so amazed by how I articulate myself through writing and in person that they have questioned if my diagnosis is correct? What I have learned as a result of this is that there is a very broad spectrum of how people are affected by rare disease and it is important not to stereotype based on medical labels.

Every single one of us in the rare community have a unique appearance, personality and identity and whether symptoms of rare disease are mild, moderate or severe, we all deserve to be seen and heard for who we are as an individual. I was an early talker but didn’t walk until I was two years old  and my Son is having speech and language therapy, said his first word age 2 and wow did we celebrate that! He was walking before me though at age one and is a very happy, strong, energetic and active little boy. My baby girl is happily rolling every which way and bangs blocks together to make noise as she smiles to herself. Both their kool journeys are different to mine and each others and it helps to keep in mind what it is to celebrate and value what is to be unique, rather than compare. As they are growing & thriving both in their own wonderful ways and are smiley, happy and healthy children which I am truly thankful for.

Do I have concerns about their future? Of course. Having anxiety disorder also can feel extremely overwhelming at times but I take steps to manage it in the best way I can. As I want to be an example to all my children that they ultimately have the freedom to choose who they are and what defines them.

I always do my best to support my children in areas of weakness while also being a constant reminder of their strengths to help encourage them to grow in self confidence. I will always love and meet my children where they are at but will always believe for more of what they can achieve and who they can be.

What I would like other rare disease parents to take away is this, it is for us as their parents to love and support both them and ourselves with whatever the diagnosis brings to our lives. At the same time to be that daily reminder they are so much more than their diagnosis and have great worth, value and beauty in their unique identity to bring to the world, just as they are.

Helpful Links

Thank you to Becky for sharing your story and the courageous journey you and your family are undertaking. Becky has a Facebook support group for the rare disease community, Mama’s Heart 

For support or questions about Koolen-de Vries Syndrome, reach out to Koolen-de Vries Syndrome Foundation, a Global Genes Global Advocacy Alliance member. 

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