By Zoe, Smith-kingsmore syndrome, United Kingdom, February 1, 2020
Bella-rose story started at 1 week old when the health visitor came to visit, bella-rose head size already grew a few cm we were referred to the pediatrician at Queen Alexander hospital we then got referred to Southampton hospital and Bella was diagnosed with hydrocephalus at around 6-8 months they told us she had very enlarged ventricles and a Web like blocker in her third ventricle, bella-rose was referred to ot, physiotherapy, speech and language, portage and a community pediatrician as Bella was not meeting any of her targets. At age 2.5 years after 4-5 MRI Bella-rose fluid on the brain went below the maximum which ruled out hydrocephalus so we was referred to take part in the 100,000 gene test, with no answers we carried on living our lives doing our best to understand bella-rose needs and wants, 1 year 6 months later we had a letter inviting us back into the hospital for our result on what they found, On 18th April 2019 was giving the diagnosis of smith Kingsmore syndrome but our pediatrician couldn't tell us alot about it, we know had a name but no answers we was told to look at the website which led us to the Facebook group were we met 5-6 other familys
We communicated with some fmaily off the page and noticed alot of our children have the same things in common, in October 2019 we attended the 1st ever conference for sks in cincinnati we came from the United Kingdom and meet 16 other families.
We learnt alot from this and we so lucky to travel there and meet all the doctors and the other familys going through the same thing, we are still learning everyday about sks
Bella-rose is doing really well in school and working close with ot and physio to try and get bella-rose on her feet,
We will always do our best to get Bella-rose the help she needs