POPPY & FFION
“I’ve got two totally different girls. Poppy’s eight - she’s all girly, girly. Likes here 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 8 and one’s 5. Poppy - who’s 8 - is all girly, girly. Likes here 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, the 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, probably need a heart operation because of the valve, probably chest reconstruction and because of the way it affects their joints they may end up in a wheelchair. They do get frustrated sometimes because they can’t do 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, but 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 doing football but we had to stop her because she was getting too breathless.”
FIND OUT MORE
Marfan Syndrome
Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.
Connective tissue is made up 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 tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or 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 related disorders.
Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, 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 system may also be affected. Marfan syndrome does not affect 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 has every feature and people have different combinations of features. 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. Harder-to-detect signs of Marfan syndrome include 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. Other signs can include sudden lung collapse and eye problems, including severe nearsightedness, 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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