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Patient voice

Passing on a rare disease: a RARE mother’s journey from ‘blameless guilt’ to joy

Becky is a rare mama whose two youngest children share her rare chromosome disorder, Koolen–de Vries syndrome (KdVS). When the diagnosis came, Becky had to battle hard to overcome her enormous sense of guilt at having passed the condition on. Knowing many other rare parents may face similar emotional battles, Becky is sharing her long journey from guilt towards acceptance and joy

By Becky Tilley

Becky is a rare mama whose two youngest children share her rare chromosome disorder, Koolen–de Vries syndrome (KdVS).

From “blameless guilt”…

I listened intently as my son’s geneticist told me and my husband over a telephone call that our boy had a confirmed diagnosis for Koolen–de Vries syndrome. Before we had a minute to let that sink in, we were informed “he inherited it from you Becky”. As I tried to digest the unexpected news, I could feel the guilt and self-blame beginning to rise within me. This only intensified as I was told my unborn daughter had a 50% chance of inheriting KdVS from me too and would need additional scans to keep a close eye on her.

I thought back to my son’s long stay in the NICU (neo-natal intensive care unit) and believed his start in life wouldn’t have been so difficult if not for me. For weeks he had to take feeds through a nasogastric (NG) tube inserted up his nose because of his severe jaundice and what they identified as hypotonia (low muscle tone). There are many genetic causes associated with hypotonia and blood tests were taken for the whole first year of his life. This happened most frequently during his stay in hospital as a newborn, which was extremely distressing.

Becky is a rare mama whose two youngest children share her rare chromosome disorder, Koolen–de Vries syndrome (KdVS).

After my daughter’s healthy start to life back in July 2018, it had shocked me to see my son have such a tough start in life. What did I do? How did this happen? After his diagnosis, these questions constantly ate away at me. I think it is human nature to look for something or someone to blame when the unthinkable happens and I was first in line.

I had so many emotions to process both during the time Josh had as a newborn in the NICU and following his diagnosis at 14 months. He had been doing so fantastically well with the help of his physio that prior to our phone call from the geneticist my husband and I thought maybe everything was fine after all. We had received many letters following Josh’s various tests saying that nothing had been found as a cause for his symptoms, and all the medical professionals agreed he was happy, healthy and progressing well.

Becky is a rare mama whose two youngest children share her rare chromosome disorder, Koolen–de Vries syndrome (KdVS).

We could never have imagined getting an official diagnosis for Josh during my third pregnancy, and I felt a lot of additional guilt and anxiety as a result. Not only was I trying to process all the re-surfacing trauma from his birth, but I was also trying to manage the fear that history would repeat itself. I imagined having another one of my precious babies in the NICU because they had inherited my rare syndrome. The emotions felt too intense to bear alone, so I shared them with my husband, family and friends. This was met with “this isn’t your fault, so don’t feel bad” and “it is only a 50% chance, so you could be worrying over nothing”. They were well meaning in what they said, but I ended up feeling increasingly hurt and upset. I needed to get professional help to off-load and process everything I was going through.

This came in the form of CBT (cognitive behavioural therapy) and having the wonderful support of a genetics counsellor. I felt that she was the only one out of anyone I spoke to that knew what I needed to hear. My feelings of guilt were finally understood. She gave me permission to feel it without judgement, and that is just what I needed.

She described what I was feeling as “blameless guilt”: you are not to blame but you feel strongly that you are. The truth is I didn’t choose to give my children Koolen–de Vries. How I am made up genetically is not something within my control and it’s the same for my beautifully unique children. I also appreciated hearing the reminder that our diagnosis doesn’t define us. We are still our own people with a life to live and relationships to enjoy, the same as everyone else.

Towards acceptance and joy…

I now see our diagnosis in a positive light as it doesn’t determine our identity. What it allows, especially for my two children, is for them to get all the medical and developmental support they need to thrive in life, such as the speech and language therapist and physio who have joined them on their journey, following referrals for KdVS and hypotonia.

Who they are is wonderful, healthy, joyful and super-smiley children who enjoy life and are a delight to call my own. Being rare brings something special to who they are, how they learn, and how they interact with the world and others. As they grow, I love exploring with them along their journey.

Josh is extremely active, energetic and strong, which is incredible to see, given that when leaving hospital we were told his hypotonia could get better, worse or stay the same. I count it an enormous blessing he continues to go from strength to strength. No first words yet, but he babbles away happily and has excellent understanding of speech; he is also doing very well with his sign language and will smile as he signs to say “eat more”.

I could allow myself to feel guilty because Josh is not saying words like his big sister at age two, but instead I choose to celebrate his progress along the path he is travelling. He learns and develops in his own way and time, and it’s my job as his mother to be there to love and accept him as he is while also encouraging him to keep growing into all he can uniquely be. It is the same with my baby girl as I support her progress with physio to grow strong. I don’t leave any step unnoticed, however small, and celebrate and enjoy my children just as they deserve.

Becky is a rare mama whose two youngest children share her rare chromosome disorder, Koolen–de Vries syndrome (KdVS).

I would like other unique parents to know that love and acceptance makes a world of difference. Experiencing feelings of guilt is a valid and acceptable part of your journey, so with the support that is needed to balance you, give yourself permission to go there. It is not a place I think any parent wants to visit, but doing so allows yourself to grieve for how you hoped things would be. It allows you in to come to terms with the way things really are, and as best as possible, make peace with it.

Look at your precious rare gems, beyond their diagnosis, to the amazing children they are. Who shine a light in this world nobody else can bring but them. Then let your own heart soften too, to what makes you rare, different, one of a kind and unique, as you are the example your children will look to for what it is to love, accept and celebrate themselves—just as they were born to be.

Links

Becky’s Koolen Mama Facebook page: facebook.com/profile.php?id=100084534964276

Mama’s Heart Support Group on facebook.com/groups/752446806195416/?ref=share


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