Archive | August 2012

Just be

This picture is my inspiration for today’s post.  It was posted by the National Marfan Foundation on their facebook page this morning.  Everyone starts out in life the same way and everyone ends up different.  Vivian is obviously unique, but so am I and so are you.

Yesterday we had an appointment at Hopkins.  This time we met with a Nurse Practitioner in the genetics department that specializes in Marfan syndrome and connective tissue disorders.  After introducing herself and a resident that was shadowing, she kneeled down beside Vivian in her stroller.  Vivian reached over, put her hand on her arm and turned her head sideways, giving the woman a smile.  I knew this was going to be a good visit!  We were basically there to see how frequently we needed to follow up with a cardiologst.  The greatest concern with Vivian, in terms of her connective tissue, is the possibility for an enlarged aortic root.  Since size can change with development, just because hers is normal now, does not mean it will still be as she ages.  We will be getting an echo cardiogram annally to check the growth.

I had previously been told that there was another patient at Hopkins that was similar to Vivian.  Naturally, I asked about said patient.  There is a six year old boy out there that is also missing the part of chromosome 15 that produces fibrillin!  We were informed that he is currently in school, he did have some developmental delays, and did have problems with his ankles/feet, as well (future post will explain).  When I heard this, I felt a strange sense of relief.  There was another little one (sort of) like baby girl out there!

Vivian is currently on this kick where she loves to look at our photo albums.  She will go into my office and flip back and forth, over and over, and be perfectly content.  Dave asked me the other day if this was “normal” for kids. I have no idea, but it doesn’t matter.  I’m not going to stop her from looking at photo albums, just because it’s not “typical” child behavior.  I’m going to embrace it.  I’m going to sit on the couch with her and look through them with her.  This holds true to anything in the future.  Whatever interests her, I will support her.  Even though it may not be “mainstream” or what all the cool kids do, every child deserves the right to be happy.  If doing something a little different makes them happy, then go for it.  As a parent, I feel I have no right to govern what activities or interests my child should or should not do.  Let them be who they are.

The Pediatric Neurologist

Dave and I were very excited for the appointment with the pediatric neurologist. OK, maybe not excited, but definitely anxious. We were hoping we would understand more about our daughter and get a better understanding of what progress had been made with the formation of myelin (after the MRI that we would schedule), and what her future would hold.

First we met with a resident, who asked many questions about Vivian and we answered them the best we could. Trying to think of what exactly was asked – I can’t recall. I’m willing to bet it had something to do with the fact that I had to wake up around 4:30 that morning.

The resident reviewed her notes with the doctor and then they both returned to the room. One of the first questions that the doctor asked us was what our science background was. Mine and my husband’s professions are on opposite sides of the spectrum from a doctor, even from each other. I made a joke about us not being into the whole college thing, but nonetheless we are pretty bright. Silence. Perhaps I should have taken her lack of sense of humor as a sign of things to come.

I had written down some questions that I thought might have to do with her brain and the neurologist would be able to help answer: “Why does she like to rub objects on her face?”, “What are the causes?”, “Delayed vs incomplete myelination?”, “Impacts on speech, physical and cognitive development?”, “Are there any cures?” Unfortunately I didn’t get many answers. She did explain that myelin is the fatty coating on conductors of electricity in the brain. That’s pretty much the only thing I wrote down from the appointment. She explained that because Vivian had not demonstrated a plateau or loss of skills, that a follow-up MRI would not be necessary. Naturally this concerned me. How will we be able to judge how the production is going and what her future holds? Dave was composed enough to be able to ask if she was going to be mentally retarded. Our answer: “We’ll know when she can take an IQ test.” That was it. All we got. At the point I basically started to sob. The doctor just looked at me, and then continued talking about something else. Strike one.

A good thing that this doctor did was tell us more about the genetics. She explained how there are certain things about Vivian that are affected by the segments of her chromosome that are missing. One of these being fibrillin, which is connected to marfan syndrome. I asked her if she could make me a copy of it, so that I can know what else is affected and more about my daughter. Nope. That’s why she’s there. We go to the doctors so they can tell us what’s on that paper. Strike two.

Strike three was the overall feeling my husband and I got from the doctor. We are not expecting a best friend, but at least some compassion and general humanness and maybe some answers thrown in. Perhaps there are no answers. “Only time will tell”. I despise that saying. Needless to say, we will not be returning to this neurologist. We don’t doubt she’s extremely intelligent, but we are not going to connect with every doctor and feel they are a good fit for our daughter. Numb, confused, lost and irritated are all feelings I had that day. I feel them every day.


The answers we were searching for came a few months later. The insurance company generously provided complimentary testing for my husband and I to check for the same abnormality. While Dave got tested right away, I procrastinated. I made up excuses for not getting my blood drawn – I didn’t want it to be my fault. Turns out it was neither of ours fault – Vivian’s partial chromosome deletion was new. The chances of this are .0001%, we were told.

Although Vivian had not, and has not, been officially diagnosed with Marfan syndrome, her doctors were taking precautions. She had an echocardiogram to check for an enlarged aortic root. Hers was on the high side of normal and she had a slight mitral valve prolapse. She also had an eye exam to check for any defects with her lenses or signs of retinal detachment, which returned negative.

Another thing the doctors at Hopkins wanted to find out was why she was globally developmentally delayed. This called for an MRI. We got her cleared for anesthesia and had the appointment scheduled. I myself have never been put under, so I wasn’t sure what to expect. We were able to go back with her at first. The anesthesiologist stated that her eyes would probably roll back in her head and this was normal. Normal? Not when it’s your little baby on a big table, wired up to machines with a mask full of gas about to go over her face. When her eyes rolled back as she drifted off to sleep, I lost it. I had no control and felt completely helpless. At least I knew she was in good hands.

Dave and I stayed in the waiting room for about an hour, while the MRI was performed. We played on our phones, got a snack and tried not to think about what was happening to Vivian. We were then called back to recovery, which took a while – she didn’t want to drink or eat anything, but that wasn’t much out of the norm. Sleepily, our little family then headed home and resumed life as normal, waiting on the results.

A few weeks later I got the phone call. I happened to be in the middle of a workshop, hours away from home. I wrote down the main points on hotel stationery and tried to absorb and understand what the genetics counselor was telling me. Vivian had incomplete myelination. Myelin is a sheet of fat, with very high cholesterol content. On an MRI it shows up as white matter. Myelin wraps tightly around axons, speeding messages through the brain by insulating these neural “wire” connections. There are gaps in the path that her cells fire on. She explained that this was in line with her developmental delays and it was not significant enough to follow up with a neurologist. A follow up MRI would be performed in a year to determine the progress.

This didn’t particularly clear things up for me. Naturally, I turned to google. Still fuzzy. My husband googled the wrong kind of myelination and was concerned with mental retardation. No, no, it is incomplete, not delayed. “Don’t worry about that” I told him. We took the counselor’s word and didn’t schedule a follow up, as none was recommended. This was in July 2011. May 2012 I talked to our original genetics counselor, who had been on maternity leave for a while (and when we got the results). I explained that we still didn’t completely understand and that it was a huge concern for us, as she was a year or more behind her cognitive development goals for her age. An appointment was scheduled for July 17 with a Pediatric Neurologist.

Marfan Syndrome

In my previous post I said I was amazed at the doctor. With a detailed physical exam, he pointed out some of Vivian’s unique characteristics. To Dave and I, they were just what made her Vivian. To the doctor, they held the answer to what may be wrong.

She had long, tapered fingers. OK – we had joked she was going to be a piano player when she grew up, but we never noticed that they were “tapered”. She had a mouth full of teeth at 16 months and there were signs of crowding. Her chest was slightly sunken – isn’t that a skinny person thing? In addition, she had flat feet, was very flexible, had a high palate, and the doctor noticed a slight curve in her spine. Preliminary diagnosis: Marfan syndrome.

I’m trying to think of what to write next, but just as I felt after that appointment, I don’t know what to do (or type). The doctor said nothing was for sure yet and we left with orders for the following: bloodwork for a SNP array – a genetic screening test that looks for missing or extra genetic information, a plasma amino acids test – to check for an underlying metabolic condition, a visit with a pediatric ophthalmologist and a brain MRI with sedation. The doc also told us not to look up the syndrome, until we knew for sure. We were googling it on our way home. What’s the harm in wanting to know what we may be in store for? Honestly, it wasn’t too bad. At least that’s how I felt. Dave read that she would have a shortened life span and would probably not be able to play sports (I obviously didn’t get that page in my results). We decided to take the doctor’s advice and stop. There’s no point in getting worked up over something that may end up being nothing.

The results came back rather quickly and they confirmed the doctor’s suspicion. Without getting too technical, here were the results: part of her chromosome 15 is deleted, specifically segment 15q21.1-15q21.3. Marfan syndrome is associated with mutations in the FBN1 gene, mapped to chromosome 15q21.1. It is a connective tissue disorder that affects the structure of fibrillin, which is an important part of collagen, the main component of connective tissue. That’s about as sciency as I get!

We now knew part of what was wrong with Vivian, but we were curious as to where she got it from? My husband and I were both looking at our fingers, legs, backs, whatever, just trying to figure out which one of us was the carrier of this disease. Neither us nor any of our biological relatives exhibited signs of this syndrome, so where did it come from?