Musings of a Marfan Mom

Today I’m pleased to share a story from my friend Nicole, about her daughter’s diagnostic process.

My husband and I are opposites in many ways. He represents all that is scientific and mathematical and I represent everything that is not. I am interested in stories and histories and everything the numbers don’t tell you. I am a teacher and he is a doctor. Sometimes, though, a mother’s intuition is able to see something that the scientific mind thinks is impossible.

Our 2 year old daughter was recently diagnosed, through a blood test, as having Marfan syndrome. Her story really dates back to my pregnancy. At the 20 week ultrasound she was diagnosed with a Congenital Cystic Malformation of the Lung; CCAM for short. There was a very tense period of two weeks before we were able to see the doctors at the high risk pregnancy clinic before we knew what exactly this was and how she was doing. Based on our Google research, it could have gone 2 ways: one with a good prognosis and another that was not so great. Luckily, her CCAM proved to be the better of the two. In the end, her CCAM did not pose problems throughout the rest of the pregnancy or at birth. It was still scary nonetheless as we had to report to the hospital downtown for her birth with a bed waiting for her at the Children’s Hospital if needed. After we got over the initial shock and worry, I just kept telling myself that she would be fine and we’d be bringing a healthy baby home. And we did exactly that. There was nothing immediately wrong with her at birth. We brought her home and things progressed as they did with our other two children. One thing that did stand out was her extremely long and skinny feet. They were so long that I proclaimed they looked like flippers when my husband brought her over to me after they examined her. We proceeded to show them to everyone who came to visit – many people audibly gasped. They were SO long! She also had very long fingers at birth; however, our other two children also seemed to have long fingers until they gained a bit of weight. I figured that she would do the same and thought she inherited my big feet. I should note that the genetic doctors do not think there is any relation between the CCAM and Marfan syndrome. Although, her pediatrician and I think it’s a very weird coincidence that she would end up with both of these rare issues.

She continued to do well and thrive. However, even though she was gaining weight and the pediatrician was never concerned with her weight gain, she was never a chubby baby. In fact, she was and still is very skinny. Whereas our other two children were proportional in height and weight, she was and remains very tall. I thought this was odd considering that we aren’t tall people – both of us are very similar in size. I had to continually deal with comments that she was skinny because she didn’t sleep or eat enough or obviously, my breast milk was just not good anymore. I knew she was healthy and happy, but couldn’t quite place what was going on. I began to resign myself to the fact that this was her body type and she would never look like our other two kids. No one in either of our families has this body type though. There were other signs that were concerning as well. She didn’t seem to be gaining any more weight once she started solid food. If the theory that my breast milk was inadequate was correct, I figured that she would start to get chubbier once she started food. She also did not want to put any weight on her legs. I knew this was concerning because she was around 8 months. She wasn’t crawling and didn’t want to put weight on her legs. Both of our other kids were definitely doing this by 8 months. Her fingers still remained very long and she was unable to use the pincer grasp to pick up anything. Instead she would use all her fingers to sweep things towards her until she finally could grasp whatever it was she wanted. Lastly, she was always holding books and toys very close to her face to examine them.

As I prepared for her 8 month appointment with our pediatrician, I started doing some research online to see what I could find. I started by searching long fingers and toes. I immediately found information on Marfan syndrome and other related syndromes. I read everything I could find – from medical journal articles, the Marfan Foundation website, and personal blogs. I presented my findings and thoughts to my husband. He thought I was crazy. He agreed that there were some issues and concerns, but he felt she did not have a genetic condition because we have no family history of any genetic issues. He asked me not to go to our pediatrician with my “research” because she was a colleague of his and I’d look crazy. I told him that I would tell her my concerns about her body type being so different from ours as well as not wanting to put weight on her legs, her vision and her pincer grasp. I figured that she might give her a referral for physical therapy and for an eye exam. I had no idea that our pediatrician and I would be on the same page.

At the appointment I refrained from bringing up my google research right away. Before I could go further, she validated my concerns and said that she, too, thought there were some issues for further consideration and that she was going to put in a referral to the genetics department at the Children’s Hospital. I was relieved and happy that she also noticed what I did and wanted to do something.

At our appointment in the genetics clinic they took a detailed family history from both of us and examined our daughter. They agreed that she had certain interesting features, but refused to say exactly what they thought the diagnosis could be other than a possible connective tissue disorder. They put in referrals for her to have an echocardiogram of her heart and for an appointment with an ophthalmologist. When I asked why they just couldn’t do a blood test to determine if she did have anything genetically wrong they told us that they would only order one if they were certain something was wrong. At this point, we left the appointment realizing that this was a puzzle that would take quite some time to reveal the whole picture.

It took a few months to get the eye and echo appointments. As she was only about 17 months old, she was quite uncooperative at the eye appointment. I hoped that since this was a hospital that only saw children, they would have some sort of tricks up their sleeve to be able to examine her eyes better. Instead, we were sent home and told that an OR room would be scheduled in a few months so they could do the exam under general anesthesia. However, the doctor did agree that she was very nearsighted.

After both appointments, we went back to the genetics clinic to get the results of the echo. This time they ordered the blood test and confirmed that they now felt she had a connective tissue disorder based on the results of the echo and eye exam in conjunction with the other signs. They requested the results of the blood test be expedited and about a month later we got the news that she did in fact have Marfan syndrome.

Since the official diagnosis I’ve been processing all of the information and taking it upon myself to find out more about Marfan syndrome. Initially I was relieved that we had an answer, but slowly I’ve come to realize just how much this can and will impact her life.

I am so glad that our pediatrician also picked up on some concerning signs and that my intuition was correct. I’m glad we know about this now rather than later. She is one tough little girl and never wants to be left out of anything. I feel as though her personality and strength have helped her overcome any obstacle. For a baby who didn’t put any weight on her legs for so long, she’s now a 2 year old that jumps and runs and climbs! I hope that I am able to support her and help her accomplish whatever she wants within the limits of what she can do.

Nicole is a stay at home mom with four kids under the age of 6 (5, 4, 2, and 8 months). Her third child, Hanna, is an incredible little girl that embodies the Shakespeare quote “and though she be but little, she is fierce.” She was recently diagnosed with Marfan Syndrome just before her 2nd birthday.