Giving back to GOSH – Mia's story

29 Nov 2016, 4:24 p.m.

Five-year-old Mia, who is deafblind and has difficulty with balance, will be walking the 5K Santa Dash with her family. Her mother, Claire, tells us how her determined daughter continues to exceed expectations.

Heart surgery at four days' old

“Our daughter Mia is a bright, social and determined little girl who has defied all the odds,” explains Claire. “Mia was born with CHARGE syndrome, a rare genetic condition that can affect different parts of the body. The most common problems are with hearing, vision, the heart, airways and growth.

“At only a few hours old, Mia was struggling with her breathing and was rushed to GOSH for further investigation. The Cardiac Intensive Care Unit doctors discovered she had a life threating heart defect called Transposition of the Great Arteries, and told us she needed major open-heart surgery to fix it.

“At only four days old, Mia underwent open-heart surgery to correct her heart defect. Her recovery was textbook and after 11 days she was discharged. The staff at GOSH were wonderful. We were so grateful to have such an amazing, hardworking, dedicated and skilled team who saved our daughter’s life.”

Mia and a doll

Diagnosed with CHARGE syndrome 

“During Mia's stay at GOSH, we met with a lovely geneticist by her bedside who explained to us she had many clinical features of CHARGE syndrome. More investigation was needed, but it became clear that Mia would have many challenges ahead of her. Overjoyed and traumatised all at the same time we took our beautiful daughter home, knowing this was just the start of our journey.

“In the coming weeks and after many tests, we learned that Mia is severely visually impaired, severe to profoundly deaf, is missing the balance organs in her inner ear (meaning she would struggle to learn to walk) and has problems with her swallowing and breathing. Our whole family was in shock - we began to think about what the future held for Mia.”

Looking forward

“Mia has had a lot of ups and downs. We have spent countless times at hospital with multiple admissions, procedures, screening, scans and therapies. Mia is under the care of many health professionals at GOSH. We are so lucky to have a strong team supporting us - with lots of hard work and determination, Mia has slowly started to learn to live with and overcome many of her health problems.

“We have very high expectation of Mia and have never underestimated her abilities. She has made amazing progress. Her speech and language is almost age appropriate and she is very happy, social and confident. Despite having to work four times harder to walk, talk, listen and learn, Mia is keeping up with her peers and growing from strength to strength.”

Mia with her brothers

Taking part in Santa Dash

“We signed up to Santa Dash because GOSH have done so much for Mia. We also stayed in parent accommodation, which I know the charity funds, so I know how important that is to families. Mia will be walking the 5K with me, her dad, Rob, her uncle, Michael, and her two brothers, 10-year-old Oscar and eight-year-old Oliver. Because of Mia’s balance, just walking across the room is a challenge, so the Santa Dash will be a big adventure for her. She is such a determined little girl that she has overcome her difficulties to learn to walk, run and climb, and she will love being part of this event.

“We cannot thank enough our wonderful team of doctors and health professional at GOSH for the amazing support they give us. We still have a long road ahead as CHARGE syndrome is such a complex medical condition but we feel confident that our GOSH team will be supporting us all the way.”

Sign up to London Santa Dash to help raise money for patients like Mia and their families.

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