My four- year-old daughter, Millie, has a rare genetic disorder called tubulinopathy. This means she has delays in all areas of her development.
From when Millie was six weeks old it was suspected that she may have a condition. However, she was only diagnosed with Tubulinopathy in the last 18 months, so for more than three years Millie was classed as having an undiagnosed syndrome.
Those three years were incredibly difficult for us as a family. It would often feel like hospitals were our second home, with constant appointments with medical specialists. If we weren’t attending an appointment, we were more than likely spending hours on the phone chasing up appointments. And all through this period, we had very little in terms of answers as to what Millie had and what the future had in store for our little girl.
This is where SWAN UK (syndromes without a name) helped us immensely. SWAN UK is the only dedicated support network available for families of children and young adults with undiagnosed genetic conditions in the UK.
For us personally, their website provided us with information we couldn’t find anywhere else, and their Facebook group allowed us to make contact with other families and parents in similar positions. They even sent Millie a bundle of balloons as a surprise one day, with a note just to remind us they were there to support us.
Among other things, SWAN UK also organise free events to bring families together, as well as educating professionals about the issues faced by families affected by a syndrome without a name.
Fortunately, life is a little easier now. Millie has a diagnosis, though there is still so much we don’t know about the condition as it is so rare. However, she has made gradual steps in her development, and is excelling at her first year in a specialist school. Although Millie now has a diagnosis, we can still seek support from SWAN UK, if and when we need it.
This year I will be running the Hastings Half Marathon on 24 March 2019 whilst pushing Millie in her disability stroller. This is to raise as much money as possible for SWAN UK, so that they may help many other families of children with undiagnosed genetic conditions. Just like they did with our family.