Lara Casciola is fundraising
Hope for Fil
In July of 2023, we welcomed little Filippa into our family. She is a sweet, quirky, determined little character, adored by her four loving aunts and wonderful uncles, cousins, grandparents, great aunts and great uncles, first-cousins- once-removed, and might-as-well-be aunts, uncles and cousins…
Filippa developed normally at first, but at around a year, we became aware that she was not progressing as expected with her milestones. In March 2025 when Filippa was 18 months old, she was given the diagnosis of Rett Syndrome.
This little-known disorder mainly affects girls and occurs once in every 10,000-15,000 female births. It is estimated that there are 350,000 people worldwide living with Rett syndrome (Rett Syndrome Research Trust) including 900 Canadians (ORSA Ontario Rett Association Canada) and 116 Danes (Landsforening Rett-Syndrom). It is caused by random mutations in a single gene named MECP2 on the X chromosome and is not inherited. There is a spectrum of symptoms which result from these mutations but in most cases this syndrome robs children of the ability to talk, to walk, and in an especially cruel assault, the use of their hands. Many children require feeding tubes and suffer from seizures. Lifetime 24 hour care is required.
The shock and sadness we felt on receiving this diagnosis were quickly tempered by our collective determination that Filippa live the very best life possible and that we enjoy our lives with her in the present moment.
Fortunately there is great hope in the Rett community that medications which strike at the root cause of Rett, the MECP2 gene, are on the horizon. In 2007, a landmark paper published by Dr Adrian Bird presented evidence that Rett symptoms were reversible in mouse models using genetic manipulation. This exciting finding has been validated by many other labs including Biopharma companies. Various methods to correct gene function are under intense study currently, and one method has already moved from the preclinical phase into clinical trials (trials in humans). These are being run and independently funded by two public companies, Taysha Gene Therapies and Neurogene Inc., and early results are positive.
While these trials hold enormous promise, much more scientific research is needed, both to improve upon the method currently in clinical trials and to develop other methods which have potential advantages. Funding for rare disease research is very scarce. It requires independent support stewarded by groups such as the Rett Syndrome Research Trust, which has played a pivotal role in the exciting progress made to date.
Today, despite her challenges, Filippa is thriving in her own way. She does not walk, but navigates spaces independently through rolling and army crawling. She does not speak with words but communicates volumes with her expressions and determination. For now, she can still use her hands to explore the world. Treatment for Fil in the next few years would have a profound impact on her quality of life: helping her avoid dire medical complications, unlocking skills previously unimaginable for folks with Rett syndrome, and giving her the chance of having a childhood full of play and imagination.
We are throwing ourselves into the quest to find the safest most effective treatment to cure Rett Syndrome, and change Filippa’s future. We invite you to be with us in helping to raise funds for the laboratories and scientists undertaking this vital work.
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