Musings of a Marfan Mom

Jennifer, Aaron, & Joshua’s Story

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I’ve known Jennifer for several years and had the pleasure of meeting her in person at the 2009 NMF Conference in Minnesota. Here is her story.

I was honored when Maya asked me to write about our Marfan story and what the National Marfan Foundation has done for us because of how important it is to bring awareness to Marfan syndrome and the need for early diagnosis and treatment. These reasons and more are the goals of the National Marfan Foundation.

I’m Jennifer and I’m a mom – plain and simple. I’m no different from any other mother – I would do anything for my babies, and I only want them to be happy and healthy in life. This brings on a whole new meaning when you are told your child has a life-threatening and sometimes debilitating disorder with no known cure. Here’s our story…

My husband and I are doubly blessed with twin boys, Aaron and Joshua, who are now 5-years-old. At 18-months of age, Aaron was diagnosed with scoliosis. We knew Infantile Scoliosis was rare, but after x-rays and an MRI, we were assured that most children that age “grow out of it” and his scoliosis was not caused by something else. However, about a year later, Aaron was falling behind on his gross motor milestones and started to really “thin out” and elongate. We made appointments for him to be evaluated by therapists from our state’s Early Intervention program. The Physical Therapist was concerned about Aaron’s very loose wrists and ankles, but constricted elbows and knees – two very opposite conditions. Coupled with Aaron’s scoliosis and weak muscles, she insisted we return to our Pediatric Orthopedist to discuss what medical problems could be the cause. Again, we were told by the doctor that there was no indication of a deeper medical issue, so we started regular physical and occupational therapies as if Aaron had a typical developmental delay. We were not as convinced.

After a couple months of therapies and internet searches by my husband and our Physical Therapist, we came across Marfan syndrome via the National Marfan Foundation’s very informative and understandable website (www.marfan.org) – Aaron seemed to fit the bill. We knew it was time to see a Geneticist. After a great Genetics team at Children’s Memorial Hospital evaluated Aaron, they felt there was enough suspicion to order an echocardiogram right away. A few, long days later, I called for the results. It was true – Aaron has a very typical and potentially deadly Marfan trait, aortic root dilation. That is when we knew Marfan syndrome is the path we are now on.

My boy had just turned 3-years-old. What is his life going to be like now? Will it be cut short? Will he be crippled, in pain, or endure countless surgeries? Will he be accepted by peers, get married, and have children of his own? As a mother, all of these questions and more running through your mind are enough to suffocate you.
I knew it was time for me to dive in and learn everything I could about Marfan syndrome – a disorder I had never heard of before. Thankfully, I learned so much from the NMF’s website alone. Then, I joined their free, on-line networking site, NMFconnect, which had just started and had only 30 members (there are now almost 2,000!). I was lucky to meet Maya, Debbie, and many others with Marfan on this site and knew instantly that I found a “home” with supportive, loving, and informed people that helped us as we started this path. I was thrilled to hear the NMF has a local chapter in our area (Northern Illinois) filled with supportive people, who know the best doctors in the area and are involved in education programs and fundraising.

Just a few months later, we had the incredible opportunity to attend the annual NMF conference at Mayo Clinic, where we met many amazing people in the Marfan community and listened to doctors discuss advances and research for Marfan and other connective tissue disorders. The NMF gave us a scholarship to help offset the cost of the conference and offered a free medical evaluation for Aaron by a pediatric cardiologist and orthopedist. They also offered a free echocardiogram for Joshua, Aaron’s fraternal twin brother with no outward signs of Marfan. We were shocked to find that Joshua has a defected aortic valve, called bicuspid, and has the same potentially deadly Marfan trait as Aaron, aortic root dilation. We would have never known this had the NMF not offered this test to him! We do not believe Joshua has Marfan syndrome, but his cardiovascular findings are consistent with connective tissue disorders, and he has the same medicine, testing/medical follow-up, and activity restrictions as Aaron.

Both of my twin boys have the same life-threatening enlargement of their aortas, but most likely from different causes. This news was such a blow – it felt as if lightening struck twice on our small family.

But in the end, we are the lucky ones! We are lucky that the boys’ issues have been found early in their lives. We are lucky that they are closely monitored by a great team of doctors. We are lucky to be able to guide the boys to safe activities and teach them how to take care of themselves. And, we are lucky to find a community within the NMF for all types of support. Many others with Marfan are not this lucky and lose their lives when the disorder goes undiagnosed.

It is because of the grants the NMF supplies to doctors and scientists that research to improve the lives of those with Marfan have come such a long way in a relatively short period of time. It is because of the time and money spent by the NMF to educate doctors, nurses, EMT’s, schools, etc. that children like my boys can be diagnosed at an early age and have the best shot at a long and happy life. It is because of the support that the NMF provides through local chapters, the annual conference, and on-line that I feel confident as a parent in how to raise my boys in the safest and smartest way. And, it is because of the connections the NMF fosters between its members that my boys will feel like they “belong” as they get older.

The single best decision we have made for the health of our family was to join the National Marfan Foundation!

Please, support the NMF by casting a vote for them in the Chase Community Giving Campaign. Any money won will go to support programs that promote early diagnosis.

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8 Comments

  1. Jennifer, thank you for writing such a fine story and introducing us to your family. I’ve been a member of NMF since my diagnosis in 1985. With all of the medical advancements, and their early diagnosis, I believe your sons can look forward to long fulfilling lives. Thank you Maya for sharing this story.

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  2. Thank you for sharing the family’s story. I have had the pleasure of knowing Jen and Jason for over 5 years – having first met them while both Jen and I were pregnant with twins together. We have remained close friends ever since and our children have been the closest of friends since birth. I have seen the amazing impact NMF has had on this extraordinary family. Through Jen’s help and her advocacy of this group, I have learned so much more about this condition I had never even heard of before. Aaron and Joshua are phenomenal children and they can be very thankful they have been blessed with amazing parents, too.

    NMF’s contributions have made it possible for my very dear friends to do all they can to help their children live long, fullfilled lives. Thank you NMF!

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  3. Very nicely written, Jennifer. We had a similar experience in terms of being brushed off or reassured by doctors about our son’s symptoms, when we knew something wasn’t right. And as a mom, I have many of the same concerns for Josh as he grows.

    Our family cannot make the conference this year but we’re hoping to go next year if it’s in Chicago, as I read it’s planned to be. Hope to meet lots of new friends there.

    Shawn, Josh & family

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  4. Jennifer,

    I’m very proud of you as your Mom and as Grandma to the 2 most wonderful, happy little boys in the world! I know very well the journey you and Jason have been on, but I also know how you’ve been able to accomplish so much, all because of how much you all love one another. You have been their greatest advocate and will keep them happy and safe.

    You have been very fortunate to find so much support and much needed information from the NMF. I wish I could thank them all for helping you through this.

    I believe with all my heart that Aaron and Joshua will have a wonderful future and that you and Jason will be right there doing what you guys do best – having fun together and loving one another!

    God Bless!

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  5. Rita, thank you. I believe you are right! I hope for good health for you.
    Julie, thank you again — for everything. You are a wonderful friend and have been so supportive of us this whole time!
    Shawn, I hope to finally meet you, Josh, and the rest of your family in person in Chicago next year! It will be a great time.

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  6. jennifer thank you for your families story. I have been a member of the australian marfan association in melbourne victoria I joined this group back in 1998 they are of great support to my self and my family also.I am now vice president of our group. thank you for introducing us to your family. when my boys were born the were both born by c section. my boys are 12 and 13 now my 12 year old has autism also. very well written and I wish you and your family all the best for your future journey together.

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  7. Jennifer – Thanks so much for sharing your story. It brought back so many emotions to the early years when Haley was first diagnosed with Marfan syndrome. Your boys are so lucky to have you for their mom and we are lucky to have you in our extended Marf family!!!

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  8. Thank you so much, Mom, Michael, and Kari for your comments! I so appreciate it!

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