Family that lost child to rare disease speaks out on day of recognition

Published: Feb. 28, 2022 at 11:52 PM EST
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(WNDU) - The last day of February is Rare Disease Day, a day aimed to raise awareness about rare diseases.

“There are many millions of Americans that are currently living with a rare disease, and many of them just may not know it,” says Magdalena Lewandowska, a Hematologist at Indiana Hemophilia & Thrombosis Center in Indianapolis.

Rare disease day is a global movement that works towards equity in social opportunity, healthcare, and access to diagnosis.

Specialists say that the awareness the day creates is crucial.

“It truly is a very important day,” says Lewandowska.

By raising awareness - and thus funds - more people are able to receive the proper care they need.

Lewandowska says the problem is under diagnosis of rare diseases, “Patients don’t end up seeking medical attention until way later in life and sometimes there could be really dire consequences from not getting the appropriate screening, care, and interventions.”

The Stancombe family understands the reality of under diagnosis.

“Gwendolyn was our first daughter, She lived to be about one year and almost one month,” says Stephanie Stancombe, “and then at around six months we started to see certain signs from her where she wasn’t meeting those milestones that you see all the other kids doing.”

At nine months Gwen started having breathing problems, and it was only two weeks before her passing away, that they found out her diagnosis.

“It’s called Cytochrome c oxidation deficiency,” said Nicholas Stancombe, “they told us she was operating on like two to three percent of the energy that you or I use every single day.”

A testament to Gwen’s strength.

Nicholas Stancombe tells us that only a few case studies have been done in the United States on Gwen’s diagnosis, and that the advocacy of Rare Disease Day holds a special place in their heart.

“The only way we’re gonna make progress on this disease or any rare disease for that matter is to raise awareness,” said Nicholas Stancombe.

Stephanie Stancombe says that there is an Energy For Life Walk in Indianapolis this year, raising funds for mitochondrial diseases like Gwen’s that falls exactly on her birthday of September 10th.

If you’d like more information on rare disease day, click here.

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