Violet was born on 18th June 2019, 4 weeks early. She lives in Wallington, south London. Violet had a difficult start to life, staying in the NICU for 10 days and getting phototherapy intervention. As time went on, it was apparent that Violet was not reaching the main milestones such as rolling, holding her head up, and crawling. She had left side muscle weakness and we grew concerned and pushed for a paediatric referral.

After the initial MRI and Xrays, in late 2020 we were referred for full genome sequencing. We discovered that Violet has an X-linked rare genetic condition called HNRNPH2 mutation. There are only around 150 or so diagnosed cases globally. The major features of this condition present in Violet in the form of a global developmental delay and severe learning difficulties. The results states that Violet has the more severe form. Violet is non-verbal and non-ambulatory, relying on a wheelchair buggy. She also has some traits of ASD, whilst she has not been formally diagnosed this is also a key aspect of the genetic condition. Violet also had failure to thrive when she was younger, and has a mini-PEG which has been used for top-up pump feeds. She has sensory aversions to food which make mealtimes very challenging.

Whilst we have some support from the NHS, a lot of the consistent ongoing therapies have to be funded privately by us to ensure Violet has the best chance at developmental milestones. Whilst we get some Disability Living Allowance support for her, this is still a huge financial strain. We spent the last 3-4 years finding money for some intensive 3 week therapies with NAPA, during which we raised £4000, half of the required amount for one three-week intensive, and we had to fund the remainder ourselves and pay for accommodation.

Violet has recently completed this and found it extremely helpful in her progress. In just three short weeks she has come leaps and bounds. However, in order to keep that consistency and avoid regression, we need to continue these costly therapies.

Violet is an extremely brave and resilient individual, and we are hopeful that until a treatment for her genetic condition has been developed, these ongoing therapies will assist her (and us) in providing her with the best chance at developing more independence.

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