Sienna’s journey to a Champ1 diagnosis began at my 12 week scan. I knew there was something wrong when they measured the fluid on the back of her neck. We were taken into a room and told that they suspected that our baby had a genetic condition. They suspected it to be one of three conditions, two of which were life limiting. As I’m sure you can imagine our world fell apart. We chose to have non-invasive tests, which ruled all three genetic conditions out. We were so relieved but the fluid measurement remained high throughout the pregnancy so we suspected that something wasn’t quite right.
Sienna’s birth was fast! She was born at 38 weeks on Tuesday 9th April 2019. Other than a slightly small head, all other checks were completely normal. The doctors were never really concerned.
We began to suspect things weren’t right at about 2 months old when Sienna struggled to turn her head in both directions. We were referred to physiotherapy and she made huge progress under her physiotherapist. However, she had begun missing milestones. I have to admit that I hugely struggled emotionally in the first year of her life. I was continually told that she was missing milestones but never told how to help her. Going to baby groups was heartbreaking; why were all the other children learning to roll, sit and crawl and my baby wasn’t?
Everything changed when we got referred to a paediatrician. Sienna was nearly a year old when we first met the paediatrician, and at that point she could sit unsupported but couldn’t crawl. She certainly wasn’t showing any signs of walking. Our paediatrician was incredible! She diagnosed Sienna with ‘Global Developmental Delay’ but still suspected that there was an underlying genetic cause. Sienna was referred to occupational therapy (OT), speech and language therapy (SALT) and Portage (play skills support service) to treat the symptoms and to a geneticist to find the cause. I owe so much to these professionals; they listened to my concerns and gave me loads of ways to help Sienna, something I had been desperately craving.
After meeting the geneticist it was decided that genetic testing was required. The first set of genetic testing that was done came back negative. By this point Sienna was making huge progress in all areas but was still behind in her milestones. We were then offered further testing through whole genome sequencing. We agreed to this testing but had decided that if it didn’t come back with a positive result, we would leave the testing alone. Much to our surprise a diagnosis of Champ1 was found. After just over 3 years of worry and stress, we finally had an answer. I’m not ashamed to admit that I struggled with the diagnosis, I didn’t want it for my daughter, and I didn’t like that it was so rare. I wanted something that was widely understood so we had answers, yet a diagnosis of Champ1 gave more questions than answers. The Facebook group was an incredible find and provided so much support, advice and reassurance. I suddenly realised that even though it was rare, there were some amazing families willing to help and support us. I will forever be grateful for the other Champ families for their support and care.
Sienna is now 3 and a half and is thriving! She is running around and is learning new words every day. She can sign key phrases and is like a sponge with her learning! She adores music and dancing and her laugh is infectious. She is adored by family and friends but also her incredible staff at nursery, staff who I owe so much to!
Sienna proves us wrong every day! I always underestimate her and by now I should know not to! In relation to her delayed milestones her paediatrician summed it up perfectly when she said ‘she does everything in the right order, just in the wrong time.’ It may take her longer to learn things but she is a determined little girl and doesn’t let anything hold her back.
I am so proud of the little girl she is growing up to be. Despite her diagnosis she is learning incredible things every day and continually surprises us. She comes out with words/phrases that I had no idea she knew, she takes so much in. There is so much going on in her little brain just desperate to come out! She is determined, stubborn, funny, loving and caring. I have now come to terms with her diagnosis and now spend my time raising awareness for Champ1 and showing the world how incredible our Champ1on is.
If you are reading this and have a child/young person who is newly diagnosed please reach out to us, we always want to help support you and your family. It can feel like you are on your own but please believe me when I say you are not!
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