When you or a loved one receives a diagnosis of Marfan syndrome or a related disorder, you enter a whole new world. Everyone deals with the diagnosis differently.
We asked our Facebook followers what they wish they had known when they or their family member were diagnosed and received an overwhelming response. We are sharing this information on The Marfan Blog to help people who are coming to The Marfan Foundation for the first time; perhaps you have a new diagnosis and don’t know what to think, don’t know what to ask, and don’t know where to start. Our warm and welcoming community has information to help you as you embark on this unexpected journey.
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We had an excellent genetic counselor who walked us through most everything. I wish I had known that there are still so many unknowns and that it isn’t always easy to get family members tested and to have it covered under insurance. – Jen Gillard
I wish I knew what Marfan was. My daughter just got diagnosed almost a year ago and she just had scoliosis surgery; it all hit us at once. – Paul PT Thomas
It’s going to be hard, but is going to be okay. You don’t have to know everything right now. You can learn as you go. Insist that doctors explain treatment until you understand it. If they are not willing to do that, find another doctor. – Vanita Tripp
It is normal to be scared and to grieve some of your expectations and dreams of family life. The Marfan Foundation and its Facebook group are an invaluable resource. Create a support system you can depend on. Get life insurance before the official diagnosis! Marfan syndrome is part of you, but it is not your identity. – Stacie Crouch Hildebrand
I wish I knew what [my son] would be faced with as he ages so I can better prepare not only him, but myself too. – Crystal Caines Williams
That a person who has Marfan syndrome can have a normal life, with an average life span. Marfan syndrome doesn’t mean not being able to live a full meaningful life. – Melissa-Willie Edwards
I wish I had known all the incredible support I was going to receive and all the wonderful people I would meet. I felt so alone and scared when I found out my son had Marfan. The best call I made was to the The Marfan Foundation. – Inez Steele
Average life expectancy is the same as someone without Marfan. It will be challenging, but it will open up a whole new network of support for you and your family. – Brandi Renee Smith
That I was not a freak. – Geneva Malone
That physical therapy at a young age is helpful in creating conscious posture. If we had started earlier, our 13 year old might not have so much joint pain due to hypermobility. Physical therapy is helping him. – Heather Johnson .
That this disease was hereditary. I lost my mother in law to an aortic dissection with no explanation. My wife had a pace maker and other heart problems, but was never diagnosed and passed away at 38 years old from an aortic dissection and was never diagnosed. I had my daughter checked after we lost mom. The cardiologist did genetic testing and my daughter was diagnosed with Marfan syndrome. She has some really great doctors that monitor her condition. She has suffered a pneumothorax and is doing fine. I’m just thankful that after losing two very close people it caused me to not accept that she is just tall and thin from her former pediatrician. I pursued other options and finally found the medical team that cares for her. Her angels above sent us in the proper direction. – Derek Pollary
That it takes full management, tracking of everything, a lot of research/outreach, and advocating for the child to get the best care. – Anat Leviel Russell
I wish I had more confidence back then in my abilities to advocate for my son. I did a great job, but I constantly worried and second guessed myself. – Tasha Smith
That I’m the same person after diagnosis as I was before. Now I just know more about myself and can explore ways to live life, better. – Rachel Olsen
I wish I had known that the stretch marks weren’t really that ugly. Or maybe I am just used to them now, but they really affected my confidence and how I thought I looked, so to be told they aren’t that bad by somebody who I know would tell me the truth would have made a huge difference to my personality. In giving advice to somebody else, I would say accept what you can’t change and embrace what you can still do. Listen to your specialists – and to your body. Life can still be good. Just different. Worrying about it is not going to change the outcome. I’ve had two lots of eye surgery (booked a third today) and my aortic root replaced and the valve repaired. I’m proud of the scar on my chest because without it, I wouldn’t be here. – Gale Hopper
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If you or a family member has recently been diagnosed with Marfan syndrome or a related disorder, our website offers a wealth of information. We encourage you to start by downloading this overview. For specific questions, please contact our Help & Resource Center, firstname.lastname@example.org or 516-883-8712.
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes. Our vision is a world in which everyone with genetic aortic and vascular conditions can live their best life.