Rare disorder causes development difficulties
- Credit: THE DE BOHUN FAMILY
A Suffolk mother is hoping to bring attention to her daughter’s rare neurological disorder ahead of a forthcoming awareness event.
Bury St Edmunds mum Emese De Bohun’s seven-year-old daughter Rosamund has the condition, known as SYNGAP1, which can impair learning and muscle development and cause behavioural difficulties.
An international awareness day will be held on June 21 for SYNGAP1, which is caused by a genetic defect.
She said Rosamund, known as ‘Mundi,’ seemed perfectly healthy at birth at West Suffolk Hospital, but did have problems with feeding and severe reflux.
The first sign of the condition was when her mother took her to a baby group aged four months and found that she was unable to roll or push herself up like the other children.
However, healthcare professionals in the UK could not determine what was causing Mundi’s developmental difficulties, believing that her problems were "mild" and that she would catch up.
Tests were also carried out for Angelman syndrome, which came back negative, but her symptoms continued, prompting Mrs De Bohun to move to her native Hungary to see if the medical community there could provide her with an answer.
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Mundi was eventually diagnosed with SYNGAP1 after a Hungarian hospital conducted an epilepsy panel test against 300 diseases and she is now living an otherwise healthy and happy life, although she needs round-the-clock care.
Mrs De Bohun said her daughter needs help with "most things". including dressing up, eating, going up and down stairs and self-care, such as washing.
SYNGAP1 also means that Mundi is non-verbal and doesn’t recognise danger, while she has difficulty sleeping and has an aversion to loud noises, including mobile phone ring tones and the sound of music in restaurants.
Although the disorder is relatively rare, an estimated one to four in every 10,000 people are believed to have SYNGAP1, which is considered to be underdiagnosed.
Mrs De Bohun said she had received support from relatives and the families of others with SYNGAP1.
She added: “We are desperate to find other patients all over the world and also more in Suffolk. It is to get more medical attention for finding a cure and also be able to help those who are still looking for answers.
“It is the families’ job too to raise as much funds as possible to achieve these goals. I couldn't wish for a better community. I feel very lucky to have these fellow families in my life. They are the only people who can really understand what we are going through every single day.”
To find out more about SYNGAP1, visit https://www.syngapresearchfund.org/home/what-is-syngap1