POPPY & FFION
“I’ve got two totally different girls. Poppy’s eight - she’s all girly, girly. Likes her clothes, likes make-up, like’s her iPod. Ffion is into Avengers and football. On the rare occasion she’ll wear a dress!”
Poppy and Ffion recently visited the studio so they could highlight Marfan Syndrome. The girls and their mum explained how the condition affects them.
“I’ve got two totally different girls - one’s eight and one’s five. Poppy - who’s 8 - is all girly, girly. Likes her clothes, likes make-up, like’s her iPod. And then we’ve got Ffion who is into Avengers and football - on the rare occasion she’ll wear a dress. As different as they are - they do love each other and they do get on to be fair. Sometimes Poppy will get a bit naggy, but older sisters do, don’t they?”
“They’ve got a condition called Marfan Syndrome and it affects the connective tissue, the heart, the eyes, the spine and skeletal features.”
“Their dad has the same syndrome and this was passed on from his mum. His brother has it as did his nana. Both girls have been tested for the condition now and it has been confirmed.”
“They both have a lot of check-ups. Poppy has heart check-ups every twelve months and Ffion every six. They have eyes appointments and Ffion goes to Alder Hey for her physio. They see a paediatrician every 6 months. They go to Gobowen to see about their bones and there are many others too.
In the long term they will get arthritis. They’ll probably need a heart operation because of the valve, probably chest reconstruction as well and due to the way it affects their joints - they may end up in a wheelchair. They do get frustrated sometimes, because they can’t do things the same as everybody else but they have not really known any different.
Despite all their health issues, they don’t give up on anything and I am so proud of them. You wouldn’t think there was anything wrong with them, to look at them, but it’s very difficult.”
“Poppy is affected in a number of ways. She has started getting dislocation of the lens and has to wear glasses. She also has a slight regurgitation in the heart area and she’s hypermobile (she’s very flexible), although not as flexible as Ffion. Poppy also suffers with a lot of pain in her legs and her arms - all her joints really - and she gets tired very easily.”
“Ffion’s very similar - although her lenses are ok - she does have a heart murmur and regurgitation as well. This is where the blood pumps into the heart but it can’t pump out properly. It means they can become breathless and so they have to be careful when they do sports and stuff. Ffion was playing football, but we had to stop her because she was getting too breathless.”
Poppy and Ffion took part in the Rare Project to highlight Marfan Syndrome. You can read about them on www.samebutdifferentcic.org.uk
FIND OUT MORE
Marfan Syndrome
Marfan Syndrome is a genetic disorder that affects the body’s connective tissues. Connective tissues hold all the body’s cells, organs and tissues together. They also play an important role in helping the body grow and develop properly.
Connective tissues are comprised of proteins. The protein that plays a role in Marfan Syndrome is called fibrillin-1. Marfan Syndrome is caused by a defect (or mutation) in the gene that regulates the production of fibrillin-1. This mutation results in increased levels of a protein called transforming growth factor beta - TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan Syndrome and some other related disorders.
Because connective tissues underpin all somatic systems - Marfan Syndrome can affect many different interconnected parts of the body. Attributes of the disorder are most often found in the heart, blood vessels, bones, joints and eyes. Some Marfan features such as aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin and nervous systems may also be affected. Marfan Syndrome has no impact on intelligence.
To find out more about Marfan syndrome, click here.
What are THE SIGNS OF Marfan syndrome?
Every person’s experience with Marfan Syndrome is slightly different. No one exhibits every attribute of the disorder and people are affected by a variety of them at once. Some features of Marfan Syndrome are easier to see than others. These include:
Long arms, legs and fingers
Tall and thin body type
Curved spine
Chest sinks in or sticks out
Flexible joints
Flat feet
Crowded teeth
Stretch marks on the skin that are not related to weight gain or loss
Other signs are harder to detect and may manifest as heart problems, especially those related to the aorta - the large blood vessel that carries blood away from the heart to the rest of the body. Some signs can include sudden lung collapse and eye problems - including severe near-sightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features.
To learn more about the signs of Marfan Syndrome, click here.
THE MARFAN FOUNDATION
If you or a member of your family is affected by Marfan Syndrome, the Marfan Foundation is available for support and help. Below is a short description of the foundation:
“Before our founding in 1981, Marfan Syndrome was largely unknown or misunderstood, but our tireless efforts have led to many life-changing advances in our fight for victory over Marfan Syndrome and related conditions. We tirelessly advance the research for treatments that save lives and dramatically enhance quality of life for affected people. We provide a supportive community for everyone affected by Marfan Syndrome and related conditions. We always have the latest and most accurate information and we educate everyone—from patients and families to medical professionals and the general public—about Marfan Syndrome and related conditions.”
source: https://www.marfan.org/about-us
To learn more about the Marfan Foundation, click here.
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