Diagnosed at two, and discussing it at eight, Isabella is educating the world about Marfan syndrome. The only member of her family to be affected, she is walking the hills of Cornwall in preparation for her fundraising cycle ride and is practising her vocal projection in anticipation of her school assembly speech during which she will explain to fellow pupils her condition. Read Isabella’s fascinating story:
Firstly, a little bit about me…
Hello, my name is Isabella, I am 8 and I have Marfan Syndrome, which is why I am really tall. Marfan is where you have long legs, arms, and finger’s. I think every person that has it is doing very well, keep it up!👍🏿👍🏿👍🏿👍🏿👍🏿👍🏿👍🏿
I found out I had marfans at 2 years old when my parents reported my eyes to be tested as I couldn’t see my books or read them properly. They soon found out my lens was dislocated. After this the doctors then tested my family for the faulty gene and I was diagnosed with Marfan. Unfortunately, my heart and spine are affected but I have a great team of doctors looking after me.
What I am going to do to raise awareness and funds for Marfan research….
Did you know, £10 will provide the laboratory with chemicals to screen an entire family for Marfan syndrome?
[pictured - Dr Aragon-Martin in the lab]
What I am going to do…
I am going to ride 10 miles once I have my plaster cast removed at Christmas. I am going to ride with my brother Henry around the cycle paths in Stevenage. I am hoping to raise money for the Marfan charity and I hope to make a difference to lives affected by Marfan. Here's my JustGiving Page.
I am also speaking at my school assembly to help others understand my condition. My school has been incredibly generous and supportive, raising money over Christmas for the Marfan Trust. [The William Ransom School has donated over £700 to the Marfan Trust!)
More about Marfans…
Marfan syndrome is a disorder of the body’s connective tissue, a group of tissues that maintain the structure of the body and support internal organs and other tissues.
Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms.
Typical characteristics of Marfan syndrome include
· Being tall
· Abnormally long and slender limbs, fingers, and toes (arachnodactyly)
· heart defect
· Lens dislocation
The gene defect leads to abnormal production of a protein called fibrillin, resulting in parts of the body being able to stretch abnormally when placed under any kind of stress.
The defective fibrillin gene also causes some bones to grow longer than they should
This means a person with Marfan syndrome may be tall because their arms and legs grow longer than normal.
There's no cure for Marfan syndrome, so treatment focuses on managing the symptoms and reducing the risk of complications.