Musings of a Marfan Mom

Today’s guest post comes from Kathy, mother to a teen with Marfan.

Our son Nik was Diagnosed with Marfan syndrome last February 11, 2013, but it wasn’t our first time hearing the word Marfan.

Nik was born with very crooked fingers and was the talk of the nursery: he was 7lbs. 15 oz., 21 inches long (not a very big baby). The fingers were the only thing that we noticed right away as far as being a little abnormal when he was born. I figured it was just “double jointed” fingers as my dad had. Nik had severe asthma from the age of 1 and we were forever going back and forth to the Dr. He also had pneumonia several times and was in the hospital several times throughout his young life. At the age of two Nik had an x-ray done and it showed what they thought was an enlarged heart. We were rushed to Los Angeles (2 hours away from where we live) to go and see a pediatric cardiologist. They ran an echocardiogram and discovered that it wasn’t his heart, it was the pectus excavatum (sunken chest) that caused his heart to look enlarged, and we were sent home and told to enjoy our son.

At the age of 3 they tested Nik for cystic fibrosis, not once but twice. Nik had very weak lungs and they could not understand why he was getting sick so often. His pediatrician finally sent us to Los Angeles to see a lung specialist. They couldn’t really tell us anything other than they thought that we needed to go in a see a genetic doctor as they thought that he may have a genetic disorder. I was getting so frustrated at this point, no one could tell me what was wrong with our son or why he was sick all the time with asthma and pneumonia. The genetic doctor asked my husband and I several questions, all to which they came back and said that Nik “could possibly” have Marfan syndrome but that he didn’t have enough of the characteristics of the syndrome and since Jeff and I didn’t have any of the characteristics they didn’t think this was his problem. They also told us that running blood tests wouldn’t give us any answers either.

14 years go by, Nik has struggled with asthma, developmental delays, and ADHD his whole life. At the age of 16 we thought that his ADHD meds weren’t working very well anymore, he had been on the same dosage for many years and he was starting to have some issues at school and I thought that maybe he needed an adjustment with his medication. Little did I know that our whole world was about to change.

Nik’s pediatrician sent us to a counselor that prescribed ADHD medications and he thought maybe they could help with figuring out the right medication and correct dosage. She was a new doctor to us. On the morning of Nik’s appointment the doctor asked me if Nik had ever had an EKG. I told her no. She said that Nik should have had one with being on this medication, so she said “while you are here why don’t we just run one.” I said ok, not knowing what I was about to be faced with. The assistant that was running Nik’s EKG, ran it once, ran it twice, walked out of the room, brought back another assistant. I asked if there was a problem, they both assured me everything was fine, that this was just an old machine and they needed to make adjustments and rerun it again. She ran the EKG again, at this time I was starting to freak out a little bit. The assistant ran it a 4th time and told me that Nik’s EKG was abnormal and they needed to get the doctor. The doctor told me that it wasn’t anything to worry about and to just make an appointment with our regular pediatrician and she immediately took Nik off of all ADDD medication. I immediately called Nik’s pediatrician and explained what had just happened. They rushed us in for an echocardiogram. That was showing that Nik had an enlarged heart, then they rushed us in for a CT scan, the CT scan was showing that his heart was not enlarged but there was still something wrong. They then sent us to see a cardiologist.

The cardiologist told us that Nik has a leaky mitral valve and an enlarged aorta but at this time it’s a very minimal enlargement but something we have to watch very closely and he would need to be put on medication. The cardiologist also mentioned an x-ray that Nik had back in November of 2012 and asked if we knew that Nik had scoliosis. We said yes but we were told it was mild and the pediatrician was just going to keep an eye on it. The cardiologist was not very happy and said that he was going to refer us to an orthopedic surgeon and a genetic doctor. He explained to us that he was pretty sure that Nik had Marfan syndrome and asked us if we had ever heard of it before. My heart sank and I explained that we were told that Nik might have it at the age of 3 but he didn’t have all of the signs at that time. Well now at the age of 16 Nik had scoliosis, a leaky mitral valve, an enlarged aorta, crooked fingers, a high arch in his mouth, very crooked teeth and was in need of braces, stretch marks, and is tall and very thin.

We had our appointment with the genetic doctor, where he confirmed that Nik did in fact have Marfan syndrome. As far as we know Nik is the first to have Marfan in our family.

We had our appointment with the orthopedic surgeon where he advised that Nik had a 43 degree curve in his spine and that Nik’s curve was putting pressure on his heart and lungs and that it was very important that we get this surgery done soon, within the next 6-8 weeks. We didn’t have time to wait for school to get out, we needed to schedule his surgery and get this done now. (This was February, we scheduled his surgery for April 22, 2013). Nik had his surgery and it was a complete success, his spine is now almost 100% straight.

Nik still has back pain occasionally and he doesn’t have the energy he used to have since his spinal surgery, but overall he’s doing very well. We see his cardiologist every 6 months, and we are still seeing his orthopedic surgeon about every 6 months now. Nik is one tough kid and always has a smile on his face. Our goal as a family is to educate others about Marfan and to hopefully help others that are going through the same thing as we are.

Kathy is married with three children. Nik is her first, and the only one diagnosed with Marfan. She also works and goes to school full time. She’s looking forward to learning more about Marfan and spreading the word to doctors and schools in her area.