Summer Sweedie Dreams

Meet Holly, this quarter’s inspiration for Sweedie Dreams. Holly is a very happy 3-year old with an extremely rare gene mutation (STXBP1). She recently started pre-school and absolutely loves it! The teachers are wonderful, the therapists are awesome and she’s made so many new friends! At home, her best friend is still the family cat Alex, who is never far from her, even at bath time. While cats used to be her favorite animal, they are now a tie with horses. About a year ago, Holly started equine therapy and instantly fell in love with horses. She recently started riding a horse named Snickers, so it’s probably just a matter of time before they are best friends.

Holly’s artistic talents is something worth bragging about. She is a card-maker extraordinaire, and can do wonders with some glue, paper and paint. At 3 years old, she is actually able to write her name!!! This is an amazing feat for any 3 year old, let alone a 3 year old with severe motor challenges.

Holly has a mutation in her STXBP1 gene. This is the gene that codes for the syntax binding protein, which is primarily responsible for firing off neurons. It is an extremely rare gene mutation with less than 200 cases known worldwide. The gene itself was not discovered until about 10 years ago, and testing for a mutation of the gene was made available in 2011. As this is such a recent discovery, it’s very likely that many children and adults who have this condition have been misdiagnosed. Holly was initially diagnosed with Cerebral Palsy, until genetic testing revealed the true cause of her symptoms. This mutation causes a neuro-muscular disorder, with the most common symptom being intractable, catastrophic epilepsy. Holly's first seizure was at 1.5 days old, but her mom recalls Holly having crazy hiccups in utero, which she now knows were probably seizures. Most children have severe motor planning issues as well as other symptoms such as ataxia, muscle tone issues (hypertonia, hypotonia), feeding disturbances (many have a g-tube to feed), dysphasia, and communication difficulties/ non-verbal. The disorder seems to display a wide spectrum of abilities among the known children. Some walk and talk while some communicate with a computer.

Due to the efforts of a very hard-working mom in Houston, Texas, a researcher is working on studying this rare disease. One day there will hopefully be a cure. Sadly, one sweet boy, Rafi, from Staten Island, NY passed away earlier this year before his 4th birthday. A research fund has been established in his honor, and this is the cause Holly and her family have chosen for Sweedie Dreams. For the months of July, August and September, for every Sweedie Kids Big Kid Bandana Bib purchased, we will donate $1 towards Rafi’s Research Fund.

If you have an organization or cause you want us to consider for Sweedie Dreams, please send us an email at bigkid@sweediekids.com