Meet Bella-Rose! Bella-Rose’s story started at just one week old when the health visitor came to visit.
Bella’s head circumference had already grown a few centimeters and we were referred to the pediatrician at Queen Alexander Hospital, UK. When Bella was 6 months old, she was diagnosed with hydrocephalus and were referred to Southampton Hospital, UK. We were told she had very enlarged ventricles and a web like blockage in her third ventricle. Bella was not meeting any of her targets, and she was referred to occupational therapy, physiotherapy, speech and language therapy, portage (early intervention) along with a new community pediatrician. At two and half years old, after multiple MRIs Bella’s fluid on her brain decreased and hydrocephalus was ruled out.
Finally, we were referred to take part in the 100,000 Genome Project. At this point, we were given no answers, so we carried on living our lives doing our best to understand Bella’s needs and wants. One year and six months later, we received a letter inviting us back to review our results. On 18th April 2019, Bella-Rose was given the diagnosis of Smith-Kingsmore Syndrome, but our pediatrician could not tell us much about it since this is such a rare diagnosis. We finally had a name but no answers. We were told to look at the website, Smithkingsmore.org which led us to the Facebook group were we finally met 6 other families.
We communicated with the families in the Facebook group and noticed our children have a lot of the same things in common. In October 2019, we attended the 1st ever conference for Smith-Kingsmore Syndrome in Cincinnati, OH at the Cincinnati Children’s Hospital. We travelled from the United Kingdom and met 16 other families. We learned so much and were so lucky to have traveled there to meet all the doctors and the other families going through the same thing. We are all still learning every day about SKS.
Bella-Rose is doing really well in school and working closely with OT and physio to try and get her up on her feet and eventually walking.
In October 2020 Bella-Rose had her first seizure, and she needed oxygen as her stats dropped. She then went on to have more seizures in February 2021. Bella-Rose is now on medication to control her seizure activities.
In August 2021 we had a foot appointment and had Bella-Rose put under anesthetic so the doctor could have a better look at Bella-Rose’s feet/ankles. Bella-Rose, Mum and Dad made a big decision and went ahead with surgery to have my Achilles tendons lengthened. Bella-Rose was in cast for 6 weeks and had a good recovery.
Bella-Rose now is working hard at school at learning to stand and walk with 2 teachers either side and also loves to wizz around in her walking frame.
We will always do our best to get Bella-Rose the help she needs!
Written by Zoe, Bella-Rose’s mother
