My daughter Dottie has just turned nine years old and she has a brother, Henry, who she adores.
Dottie is a determined, affectionate and very funny little girl who enjoys going to school, playing with friends and doing lots of things. She loves to be outside walking, collecting nature items to bring home and to dig in the mud. So much so that we have built her a mud kitchen in our garden. She loves to swim and go on the swings at the park, activities we have really missed the last year or so. She also loves to play with trains, dolls and dance, sing and dance to music. There is always music playing at home at Dottie’s request and she particularly enjoys watching videos of singing with Makaton, which is Dottie’s preferred way to communicate.
Dottie has an undiagnosed genetic condition that presents itself as a long list of medical symptoms. She is undiagnosed because it is very likely she has a genetic condition that is very rare and possibly not discovered yet. We are members of SWAN UK (Syndromes Without A Name), an organisation that supports families like ours with children and young adults with undiagnosed genetic conditions.
AT THE BEGINNING
When Dottie was born, she was much smaller than everyone expected so we were under the care of the paediatric consultant at the local hospital. Everything seemed fine initially, then at one year old when Dottie wasn’t crawling, babbling or sitting up unsupported and started having seizures, we were very worried. For the next two years, Dottie had weekly appointments seeing multiple doctors, nurses and therapists for tests, procedures and therapy. We also had a few emergency hospital admissions and stays. Despite all of this, we were no closer to finding out the reason for what was now a long list of symptoms that Dottie had. Thankfully, Dottie’s seizures were largely under control with medication and growth hormone injections that helped Dottie to grow and build her muscle tone.
It was after these two years that we were told for the first time that it was very likely a rare genetic condition was causing Dottie’s list of symptoms. We then took part in the DDD (Deciphering Developmental Disorders) study and following this, the 100,000 Genomes Project. Unfortunately, after several years neither were able to provide a diagnosis. However, knowing that there are continued advancements in understanding the human genome, new rare diseases are being discovered. Children receiving a diagnosis after many years gives us hope. On the other hand, we also must have a degree of acceptance that this may not happen.
CHALLENGES OF BEING UNDIAGNOSED
During the first few years, not knowing what was causing Dottie’s symptoms was particularly hard for me. I couldn’t help thinking it must have been something I did or didn’t do during pregnancy and this used to dominate most of my thoughts both day and night. Although this isn’t something that dominates my thoughts as much now, it never goes away completely. Families who now have a diagnosis for their child after many years of waiting, talk about a huge feeling of relief and a big weight being lifted off their shoulders as the heavy feelings of guilt are taken away.
During this time, I also felt very alone, like no one understood, I didn’t know what the future held and I was scared. It would have been helpful to hear from other families going through the same thing, those who have walked the same path before us or who could walk with us now. It would have been helpful to hear that Dottie may have a genetic condition that could cause a disability a lot earlier so that we had got the help and support we needed earlier, We would have liked to hear that caring for a child with a disability can have its challenges but it can also be life changing in a positive way and that there are people and organisations to help us along the way. I would have liked to have listened to adults with disabilities, as a non-disabled parent, this is very important when raising a disabled child. Dottie herself has taught us so much more than I ever thought possible and as well as lots of music in our house there is a lot of laughter too.
It was when we were finally told that Dottie has an undiagnosed genetic condition that we found SWAN UK, we found our community of families going through similar experiences and it was such a huge relief to know we were not alone. SWAN UK has been such a huge source of support and reassurance, I just don’t know what we would do without them. I can’t wait until we can safely meet up with our SWAN UK family in person, that really is something to look forward to.