Musings of a Marfan Mom

June 28, 2013
by marfmom
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Friday Favorites

It’s Friday, which means it’s Friday Favorites time! Come on over and link up a favorite post that you wrote this week! Amy and/or I will come over and comment on each of your posts. I hope that you’ll spread the love and visit the blog or two above yours too.


Friday Favorites with Musings of a Marfan Mom & Anktangle

June 27, 2013
by marfmom
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Mary & Charlie’s Adoption Story, Part 1

I’m on vacation at the beach(!), so while I’m lazing about my days getting a tan, a couple of readers have submitted guest posts. Today’s is written by a friend of mine, Mary. Mary is the CEO of a small company in New England. Her children are now 11 and 16.

More Love

I learned a tremendous amount through my adoption journey. I learned some things about myself I wasn’t too thrilled with, I learned the heart’s capacity for love, and I learned about Marfan syndrome.

When my then husband and I were married, we both agreed that if we had a choice, we’d like to have a birth child and an adopted child. I became pregnant with my daughter so quickly, that we put adoption on the back burner, and a few years later tried for number two. When that wasn’t working, and I learned firsthand how stressful it was to begin the fertility process, we turned to adoption.

While we were looking around at adoption agencies and the different paths to adoption, we took a hard look at ourselves and what we would need to successfully expand our family. Deciding to adopt and how to go about adopting was the most personal decision of my life. I promised myself that no matter what, I would be honest about what would best for our newly expanded family. I had to dig deep and face the fact that I was not secure enough for an open adoption. As much as I felt that it ultimately was the psychologically healthiest for the child (after all the child would know that his birth mother cared enough to screen us and keep a relationship with him), I knew I couldn’t do it. I was worried about there being “another mother”. Would I feel competition? Would my child love his birth mother more? How could I integrate her into our lives? If I had enough money to adopt her child, should I rather use it to help her keep her child? I wasn’t worried about the work involved. I was worried about my questions and insecurities affecting my child. This was not an easy thing to recognize in myself and was not something I was proud of. But, I was true to my promise, and we turned to Guatemala.

Guatemala worked for us because 1) we didn’t want our child to feel different from the rest of us and my husband had darker skin and straight dark hair, our work schedules weren’t very flexible and traveling to Guatemala wasn’t a requirement, we knew we could get a baby six months or younger, and we were told that Guatemala took good care of children put forth for adoption so attachment and health issues would be at a minimum. Everyone is different, but these are the things that we recognized we needed.

As I traversed my way through the adoption process, I was amazed at how parallel it was to having a birth child. To me the home study process was akin to the initial months of trying to conceive. The process of waiting for a child to be identified for us and the endless paperwork was gestation. And getting the call was labor.

Luckily, the three of us were able to fly to Guatemala and our daughter was the first to hold our son, Charlie. Six months old, happy, well adjusted and healthy, we bade good bye to his foster mother and headed to the airport. Along with the overwhelming joy I felt, I was also very surprised to feel incomplete.

What was missing? I realized I desperately wanted to meet his birth mother, to look straight into her eyes so she knew I was real and that I was going to do everything in my power for her son. That he would know of her as a hero who did what no mother ever wants to consider – that her child would have a better life being raised by someone else thousands of miles away, and she would never see him again. I felt a kinship with her; like we were sisters. The biggest thing I wanted to avoid had become the thing I wanted most.

Now, his dad and I are divorced, and he has a step mother who adores him. Those old fears arise now and then, but more as a way to understand his step mother’s insecurities and her desire to prove herself as his mother. He is my son and we have a bond that can never be broken. If he can find additional women in his life to love him – birth mother, step mother, girl friends and then life partner – then he is a lucky person, and I can rest easy.

June 25, 2013
by marfmom
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Life as an EDS Warrior/Possible Marf

I’m on vacation at the beach(!), so while I’m lazing about my days getting a tan, a couple of readers have submitted guest posts. Today’s is written by Rhiannen, about her journey to find an accurate diagnosis. She blogs at Rhiannen’s Rainbow. Thanks, Rhiannen!

Hi There!

My name is Rhiannen and I am 25 years old from Australia.

I was diagnosed with Ehlers-Danlos syndrome (Hypermobile/formerly Type 3) in 2011 at 23 years old, after a life time of mysterious illness, dislocations, peculiar body shape and an apparent immunity to local anaesthetics.

The EDS diagnosis answered a lot of questions but left some unanswered. I have a very unique stature that results in frequently being asked if I have Marfan syndrome.

I’m not, but I come very close. I have the long fingers and wide arm span but not quite enough to meet the strict Marfan diagnostic criteria. I’m almost an Aussie Marf?

Along with those with Marfan characteristics I also have very small hands and feet (think kids shoes and mittens) as well as tiny ears. I am underweight regardless of how much I eat and I am hearing impaired.

The biggest surprise came at the Cardiologist office when a routine scan to monitor my heart revealed an aortic aneurism or as my cardiologist put it – “How interesting, you have a Marfan heart!”.

It became clear that I don’t just have EDS and that I have a cross over with another connective tissue disorder of some description. Genetic testing for Loeys-Dietz syndrome came back negative so that was ruled out.

At the moment, attention has been turned to stabilising my fragile body. Going 23 years without a diagnosis resulted in a lot of damage being done.

I have arthritis in almost every joint and my long skinny legs are severely bowed at the knees that has in turn damaged my hips and ankles. I can dislocate a joint at the simpliest incorrect movement. I start each morning by checking that all my joints are back in place before getting out of bed.

Every body system and function is under the close monitoring of an “ologist”. My lungs are particularly weak and prone to infection. My blood pressure can drop without warning. I bruise easily and my skin is so very fragile.

My life revolves around medical appointments.

Living in Australia with such a rare condition is hard because there few doctors who are familiar with connective tissue disorders in general, let alone with someone as complex as myself.

I have just had the MRI for chiari malformation but will need to travel to Sydney to see the neurosurgeon. Next week I am flying to Melbourne for the day, just to see an orthopeadic surgeon to seek advice on what to do with my deteriorating knees. On Friday I meet with the oral surgeon to discuss an infected tooth.

I am at uni/college studying towards being a special education teacher and I am also the state director of an Australian academic problem solving competition. This year I also began with a new organisation “Rare Voices Australia” and act as a patient advocate as we fight for a better future for all Australians with rare diseases and disorders.

Did you know that Australia does not of a Rare Disease Policy like the US and Europe? It is appalling! Several times a year, I speak at universities to educate lecturers on how to teach and work with students with complex medical issues like those I face.

Later this year I will undergo the genetic testing for Marfan syndrome as well as vascular EDS to determine once and for all whether I am part Marfan or if I have invented a new connective tissue disorder of my own.

I’m not going to lie. Life with a connective tissue disorder is hard. It has taken away dreams and regularly ruins plans. Having said that, it has also taught me about the important things in life as well as teaching me just how tough I am. I love sharing my story, inspiring and educating others.

My blog slogan is “Living a beautiful life in a broken body” – it has since become my life slogan, one I live by everyday.

Ehlers-Danlos syndrome