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Family seeks help for son diagnosed with muscular dystrophy

Evan, a seven-year-old, is raising funds after being diagnosed with Duchenne Muscular Dystrophy.

July 23, 2025 at 07:17 PM
blur My son got a cramp in his leg while playing laser tag at a birthday party... the cause has broken our hearts

A family's struggle unfolds after misdiagnosing their seven-year-old with autism instead of MD.

Family faces heartbreak after misdiagnosis of son's rare disease

Evan, a seven-year-old from Maidstone, faced a life-altering diagnosis after years of misdiagnoses. During a laser tag birthday party, he experienced severe leg cramps, prompting a visit to the hospital. Tests revealed he has Duchenne Muscular Dystrophy, a rare and severe genetic disorder. His mother Laura Winter explained that symptoms were mistakenly attributed to autism for three and a half years. The family is now raising funds through GoFundMe to ensure Evan lives as comfortably as possible despite the challenges of the disease and the limitations of their current living situation.

Key Takeaways

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Evan's severe leg cramps revealed a misdiagnosed rare disease.
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The family faced a three-and-a-half-year wait for a correct diagnosis.
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Duchenne Muscular Dystrophy leads to significant muscle loss and difficulty standing.
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A GoFundMe campaign highlights financial struggles for families dealing with rare conditions.
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Misdiagnosis caused emotional distress for the family and immense uncertainty.
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The mother stresses the need for increased awareness of DMD among parents.

"Evan would sometimes say he hated walking and it was thought to be a result of his autism."

Ms Winter reflects on how earlier symptoms were misinterpreted due to autism diagnosis.

"We can't save our beautiful little boy from this awful, horrendous disease but we will try with everything we have."

Ms Winter describes the family's resolve to care for Evan despite his diagnosis.

"Sometimes it feels like we're just living in a parallel universe and it will all just end soon."

Laura Winter expresses the emotional toll of the diagnosis on the family.

"If parents feel like there's something not quite right - trust your gut, push harder."

Ms Winter emphasizes the importance of advocating for children's health.

This family's experience highlights critical issues in healthcare, especially the importance of accurate diagnosis. They had trusted medical professionals but were left feeling misled and uncertain. Evan's story is not just about the challenges posed by DMD; it speaks to a concerning systemic failure where conditions like this go unrecognized. As families like Evan's fight for resources and awareness, it raises questions about how effective our current healthcare systems truly are in identifying and addressing rare diseases.

Highlights

  • A misdiagnosis can change a family's life forever.
  • Trust your instincts when it comes to your child's health.
  • We are living in a broken system with no assistance.
  • Evan deserves a comfortable home to grow up in.

Sensitive health issue raises concerns

The family's struggle highlights the risks associated with misdiagnosis and the financial burden of managing a rare disease. There is a strong need for better awareness and support systems for families facing similar challenges.

Evan's journey serves as a call for greater understanding of rare diseases and their impact on families.

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