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Teen's Rare Disease Ignored as 'Growing Pains'
30 Jan
Summary
- A rare incurable neurological disorder was misdiagnosed as growing pains.
- The condition, CMT4J, causes muscle weakness and chronic pain.
- Family seeks US gene therapy trial to slow disease progression.
For months, a mother's concerns about her daughter Daisy Fisher's deteriorating health were repeatedly dismissed as 'growing pains'. The 14-year-old's symptoms, including fainting and extreme exhaustion, were not taken seriously until a devastating diagnosis revealed an aggressive neurological disorder.
Daisy was diagnosed with Charcot-Marie-Tooth Type 4J (CMT4J), a rare and incurable condition that attacks the nerves, leading to muscle weakness, chronic pain, and reduced mobility. Doctors anticipate she will eventually lose the ability to walk and require full-time assistance.
Currently, no treatment exists in the UK for CMT4J. Daisy's mother, Adele Fisher, is now fundraising for her daughter to participate in a promising gene therapy trial in the US, which experts believe could halt or slow the disease's advancement.
Adele expressed her deep frustration, recounting how every attempt to seek medical help for Daisy was met with assurances that her symptoms were age-related. The prolonged period of uncertainty and relentless pursuit of answers led Adele to leave her career to become a full-time carer for Daisy.
Daisy has been enrolled in a research program in Iowa, preparing for a clinical trial. While cautiously optimistic, Adele acknowledges the ongoing daily struggle Daisy faces with relentless fatigue and discomfort. The family is also seeking donations to cover essential expenses like specialist travel insurance.
