A childhood interrupted by a series of seemingly disconnected, disparate medical alarms led to a diagnosis that saved not only Josie’s but also her father’s life. Rare diseases are by nature difficult to diagnose, but through sharing stories such as Josie & Greg’s, Marfan should become better known. Read on:

Josie and Greg by Audrey

We knew from the age of about 1 week old that Josie was something out of the ordinary.

 She was very long and thin from birth and had terrible reflux. At two years old she had an abdominal hernia followed by another aged 3. Both needed surgery.

At aged 5 she began to have absence seizures. At 6 she was hospitalised with an infection, but no cause was found.

Then at about 7 she developed the most painful feet. Often, she was unable to walk at all. She had scans and physio and we were told she had plantar fasciitis and inflammation in both feet and would grow out of it. She has never grown out of it!

At aged 11 she got flu. We were told it was nothing, but it rapidly led to double pneumonia and she went into septic shock. Her heart became enlarged and was struggling to cope. We were asked to prepare ourselves for her to die.

The hospital was amazing and, with their expertise and Josie’s sheer grit, she began to get better. We suffered a few set-backs including additional infections and a collapsed lung but after six weeks she was finally allowed home.

Now, suddenly, multiple hospital teams were interested in her. In January 2020 she underwent an array of genetic testing.

In April 2021 she was diagnosed with Marfan syndrome.

The genetics team saw our family and the geneticist took our bloods for testing. She was concerned by several features in my husband and so sent him for an echo whilst we awaited the genetic results. Thank god she did.

He had an aneurysm in his ascending aorta which was nearly seven centimetres and his aortic valve was severely compromised. He underwent open-heart surgery in May 2021.

Josie’s diagnosis was not a shock and in many ways it was a relief to finally be heard and know that she will be listened to for the rest of her life, Greg’s diagnosis was a total shock. He has no symptoms of Marfan at all other than his height.

Josie’s diagnosis saved Greg’s life. As did our geneticists’ quick referral.

Our daughter has several ongoing issues most notably damage to her lungs, but she now has an amazing medical team around her.

Marfan Trust, a CIO registered as a charity in England in Wales with charity number 1198847 at: c/o 24 Oakfield Lane, Keston, Kent, BR2 6BY. Contact us at [email protected] or by phone on + 44 (0)333 011 5256
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