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Carly's Story

Mother of Harper and Gaucher disease advocate

Carly was like any first-time mom, excited to celebrate birthdays, holidays and family milestone events with her new baby Harper. When Harper was diagnosed with type 2 Gaucher disease, a rapidly degenerating and universally fatal disease, just a few months after her birth many would have put those dreams aside – but not Carly.

Gaucher disease is a lysosomal storage disorder that can have a wide range of effects on organs throughout the body, with three subtypes that vary by the presence or absence of neurological symptoms, severity of symptoms, age of onset and age at death. Type 2 Gaucher disease, Harper’s diagnosis, is the most severe, and strikes infants and toddlers by causing rapid and irreversible brain damage beginning in the first six months of life. Patients typically die by age two.

Faced with a prognosis of 6 – 24 months to live, Carly was determined to give Harper as many of those childhood life experiences as possible even if it meant accelerating the timing. She created a ‘bucket list’ for Harper and set the plans in motion to give Harper a ‘first birthday’ at just 5 months old, followed by her parents wedding (originally planned for the following year) in which she played a starring role, and even an early Halloween and Christmas complete with a snow machine – all packed into a few short months.

It certainly wasn’t easy, Harper was very sick – especially towards the end of her too short life (Harper passed away at just 8 ½ months old) – and her illness took an emotional and physical toll on her family. Carly was so afraid to leave Harper’s side she’d stay up all night checking on her for fear she’d stop breathing or choke.

Carly is now an active Gaucher disease advocate raising funds and sharing her experiences in an effort to help other families. She hopes that by telling Harper’s story she can inspire them to make the most of every minute – giving their babies as much joy as possible and providing families with loving memories that will last a lifetime.

“From the moment she was born to the moment she passed away Harper had an amazing quality of life. This diagnosis doesn’t mean you have to stay in the hospital; equipment and support is available that can allow you to bring your baby home and give them the experiences they deserve.”

This condition doesn’t have to steal my baby’s entire life; we can give her happiness and childhood experiences - even if it’s all packed into just a few short months.”
Mother of Harper and Gaucher disease advocate

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