As I’ve mentioned before, I was born with Holt-Oram Syndrome. Holt-Oram is a genetic condition although I’m the first in my family to have it. It’s quite a rare condition affecting 1 in 100,000 people. It is caused by a mutation in the TBX5 gene which affects the way that the arms and heart form before birth. There is a 50% chance that I will pass the condition on to any children I have. If I pass HOS on it doesn’t just mean that I’ll have a child with the same condition as me, I have a very short left arm and slightly short right arm. I don’t have thumbs, I have a club hand, my shoulders are permanently dislocated. I don’t have biceps or triceps. I have pulmonary stenosis and a cardiac conduction disorder. I quite like having HOS, it makes me different, sometimes it makes things tricky but mainly it makes me determined, it contributes to my sense of humour and ability to see the funny side.
When I discovered at 21 that I had HOS and there was a 50% chance of passing it on I was devastated. I wasn’t as self-assured at that point in my life, I was more worried about my heart condition, I was struggling to accept that I had HOS and the thought of passing it on was all a bit much. If I had known that HOS would manifest itself in my child in the same way as it did in me I would have been less worried but the effects of HOS vary massively. Some people have barely any sign of the condition, they may have slightly longer than average thumbs or a slight heart murmur. Others are born with major upper limb differences, fingers and thumbs missing, incredibly short arms, serious heart conditions etc. The thought of having a child with a more severe version of HOS than I had terrified me and for a long time I thought that I would probably adopt.
My husband and I considered adoption very seriously, it’s something that we may still do in the future. There are many children out there who need loving homes and we have a lot of love to give. We had genetic counselling, we wanted to be aware of all of the options. We were told that we could have IVF with PGD, they look for healthy eggs without any signs of TBX5 mutation to implant. We were also offered the option of very close monitoring through pregnancy with the choice of termination should signs of HOS develop. We felt very strongly that we wouldn’t be happy with the monitoring and termination route. We knew that if we discovered that I was pregnant we would want to keep the baby regardless of any disability. I also felt uncomfortable with the PGD route. Fertilised eggs would have been destroyed because they had the same condition as me. I couldn’t help thinking that if my mum had had this I never would have been born because of my ‘imperfection’.
The turning point for us was seeing friends who had children with disabilities and medical conditions. Friends who had nothing wrong with them, no extra risk factors. Seeing their children having complications at birth and having cerebral palsy, discovering they had a form of cancer just a few months after they were born, serious allergies, loss of hearing. It made us realise that there are no guarantees when you have a baby and we always knew that whatever happened we would adore our child or children and we would do our best for them.
Despite having accepted that our child was at a fairly high risk of developing HOS we hoped that Lentil wouldn’t. I frequently found myself reminding him to grow strong arms and a healthy heart. I told him that thumbs weren’t as important as people make out but that daddy would appreciate another pair of thumbs in the house if he fancied growing some. At the 12 week scan Lentil made sure that he showed us both hands, we saw thumbs and fingers and a little beating heart and we were reassured that everything would be OK. Sometimes with HOS limbs stop growing later in the pregnancy so we knew he could still have HOS but we were reassured to see that he would have some kind of arms and hands. At each scan we saw normal growth and we were relieved that Lentil wouldn’t have to struggle, that he’d have strong arms, he’d have thumbs and he’d have no problems with his heart.
When Lentil’s heart stopped during the delivery I was terrified that it was because he had HOS. Terrified that he had a serious heart condition that hadn’t been picked up on the scans. Terrified that my genes had caused his death. Thankfully the post-mortem showed that this wasn’t the case, Lentil didn’t have HOS, he was perfect, his death was just one of those awful things, an umbilical cord accident. It showed me that HOS wouldn’t be the worst thing to happen to any child of ours. Lentil put HOS into perspective for me.
Yes, at times, things are a struggle. As a child I struggled with looking different, I wanted a false arm that I could wear when I first met people so that they wouldn’t know, especially as I got older, being an awkward teenager, I thought boys would never be interested. I was scared of my heart condition. I have back and hip pain most of the time because of the way that I have to bend to reach things. It can be hard for me to manage every day tasks. But would I ‘be cured’ if it was an option? Absolutely not. My arms are a big part of who I am. If we have children who have HOS or any other disability I hope that they feel as positive about their condition as I now do about mine. I wouldn’t wish HOS on my children but I wouldn’t be devastated if they had it either. We just want a baby who we can take home from the hospital, who we will love no matter what.