Caring for my family and my mental health: Rare Chromosome Disorder Awareness Day

by | Jun 16, 2022 | Blog, Patient stories|Rare disease world

In honour of Rare Chromosome Disorder Awareness Day, Becky Tilley has kindly returned to our blog to share how her and her family’s rare chromosome condition, Koolen-de vries syndrome, has impacted her mental health.

If you are still yet to meet Becky, read her prior blog entitled “My Koolen-de Vries Syndrome diagnosis: Differences are Worth Celebrating”

As a refresher, 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 rare journey on our blog, email our Marketing & Engagement Manager, Blayne at

If you’d like additional support or guidance on living with a rare chromosome or genetic disorder, visit our friends at Unique!

My name is Becky Tilley. I live in the UK and am a proud wife to my husband Carl and mother to my three children: Isabella aged 3, Joshua aged 2 and Avary aged 10 months. Myself and my two youngest share a rare chromosome disorder called Koolen-de vries syndrome. Having this rare diagnosis both as a woman and a mother has taught me a great deal about the importance of taking care of my mental health. Both for myself and my beautiful family.

My pregnancy with Bella was a happy and healthy one. She was welcomed into the world with no issues or concerns just one day before her due date. Josh, however, arrived early on 10th March instead of his due date on 2nd April 2020. As far as I knew, this had again been a normal healthy pregnancy, but during those last pushes of labour his heart rate dropped and was struggling to breathe after being born.

The staff rushed him down to the NICU ward and his breathing soon stabilised with support. He was a tiny 5 pounds and 13 ounces, and what I hoped would be a short stay in hospital for him, turned out to be a long one of 34 days. He was severely jaundice and had great difficulty feeding, so he had to have an ng tube inserted up his nose. Following this, they also discovered during a newborn check that he had a low muscle tone condition called hypotonia. The condition is linked to a large number of rare genetic diseases, so the blood tests soon began and carried on for the whole first year of his life.

It was an extremely stressful and distressing time, and the anxiety issues I’d had since childhood I found had utterly sky rocketed. There was blood test after blood test, and when no results were found, I knew I’d be getting a letter to arrange more of them. We were offered a whole genome sequencing test by a geneticist in Exeter, which covers all the known rare and genetic disorders that could be causing Josh’s issue. Not surprisingly, we decided to go ahead and still to our amazement nothing was found. All the medical professionals agreed that Josh was doing extremely well with the help of physiotherapy and was a happy and healthy baby boy. My husband and I actually started thinking maybe there would not be a known cause after all, but we had one last option left.

We were offered a tri-genome sequencing test, which involves a blood sample from myself, my husband and Joshua to see if anything comes back as a genetic cause. This would test for not only the more commonly known rare diseases, but also all the in-between ones. We would be the first family in the South West to have it done.

We agreed to go for it, and after months of no news, we thought we wouldn’t get a diagnosis at all. Then the following year in January 2021, we were in for another big surprise; this time in the form of a positive pregnancy test. We were expecting our precious baby number three. Bella and Josh were both doing so well that a diagnosis for Josh couldn’t have been further from our minds. Then one morning that May we received an email from the geneticist saying that a diagnosis for Joshua had been found.

She explained over the phone that my son and I both came back as a match for Koolen-de vries syndrome. Not only that, but my unborn child also had a 50% chance of having the syndrome, too.

The whole process of taking it in and managing the heavy guilt I felt was emotionally exhausting. My family and friends did their best to be of support, but it was impossible for them to understand the depth of stress and upset I was going through. I took whatever help the GP had to offer who told me that I was dealing with chronic stress/anxiety. I then moved on to talk therapy with a counsellor, which I found extremely helpful and comforting as I could out all my pain without fear of being judged or hurt by those close to me.

I tried Cognitive behavioral therapy (CBT) and talking a counsellor I’d previously had but found the most helpful support of all was my genetics counsellor. It wasn’t actually in her job description to be a listening ear for my emotions, but it is exactly what she very kindly provided. I could feel guilty, frustrated, hurt, sad and she would let me express it all. An assurance from her that all my feelings were completely normal and valid.

I wasn’t told not to feel guilty, instead she allowed it to be heard and understood. That is exactly what I needed to reach a place of acceptance both for myself and the diagnosis. I would never have chosen to give my son a rare chromosome disorder or my daughter, yet in the same breath, I wouldn’t change who they are for the world. They are beautifully unique and shine in my eyes just as they were made to. Same as the syndrome doesn’t define me, it also doesn’t define them. Instead, I believe that it adds an extra something rare and wonderful for us to express.

Something I would like other rare parents to remember is that it is okay to let yourself feel what comes up for you with acceptance and forgiveness. You never need to feel wrong for the guilt that you carry, as I have found it was only by allowing myself to feel and go fully into it without shame and judgment that I could move through it.

Do I still wrestle with feelings of guilt at times? Absolutely, but nothing like as intensely as I once did. It no longer consumes me, as I accept both myself and my dear children with love, respect and appreciation for who we all uniquely are.

Be proud of the family you are today and use your unique challenges to strengthen your bond and bring you closer together. There is no other family in the world like yours and that is a rare and wonderful thing.