Alex Hoodikoff: Diagnosis came as a shock (part two in a series)

This is the second in a five part series that tells the story of Alex Hoodikoff after she was diagnosed with a serious illness.

The news of Alexandra Hoodikoff’s diagnosis came as a shock to her and her family.

“It was surreal to be honest. I kind of went into a fog,” said Stephenie Hoodikoff, Alex’s mom.

Fibrodysplasia Ossificans Progressiva, or FOP, is an extremely rare genetic disorder that causes bone to grow in muscles, tendons and other connective tissues. A second skeleton eventually forms and restricts a person’s movement. There is no other known condition that causes one body structure to turn into another.

FOP is one of the rarest genetic disorders in the world. Alex is only one of the 800 known cases.

Dr. Frederick S. Kaplan is the Isaac and Rose Nassau Professor of Orthopaedic Molecular Medicine and the Director of the Centre for Research in FOP & Related Disorders in the University of Pennsylvania School of Medicine. This is the only centre that is dedicated solely on FOP research.

“FOP affects one in two million individuals worldwide. There is no racial, ethnic, gender or geographic predilection,” Kaplan wrote in an email.

Patients experience painful flare-ups of FOP where their body starts to form new bones. These flare-ups are different for each person when it comes to length of time, area of the body and causation. One of the common symptoms for FOP patients is a crooked big toe at birth. It’s one of the main features that can identify a person with FOP symptoms and was the feature that lead to Alex’s FOP diagnosis.

Generally, diagnosis of FOP happens when a person is between two to five years of age. Alex was not diagnosed until she was 12. However, it’s hard to diagnose the disorder due to its rarity. FOP is often mistaken for other diseases such as cancer.

In 2006, the University of Pennsylvania School of Medicine announced the discovery of a FOP gene. This breakthrough allowed scientists to finally be able to identify a person with FOP through their genetic make-up. Unfortunately, Alex had been also misdiagnosed, despite having crooked toes and seeing a geneticist in 2006 at the time the scientific breakthrough.

“It frustrates me that there was all this excitement going on about FOP but the geneticist at the time didn’t even think of it.” Hoodikoff said.

FOP gets worse as the disorder progressives over time. Any type of surgery on a person with FOP will worsen the situation as it will cause flare-ups. Currently, there is no cure for FOP. There is medicine to help manage the symptoms such as pain and swelling. Research on FOP is continuing in hopes that there may be a cure or treatment found.

Despite Hoodikoff’s frustration with Alex’s misdiagnosis by the geneticist back in 2006, she is thankful that it wasn’t until 2014 that Alex’s FOP was discovered.

He should have known but I’m grateful he didn’t, since we got eight more non-diagnosis years. Alex did whatever she wanted and she was treated like any other kid.” Hoodikoff said.

Coming in part two: Alex and her changes to every day life.

Check out for more details on FOP.

Part one of this series: Alex Hoodikoff: A young girl’s battle

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