Progress

To say it’s been a while is an understatement – I’m not sure where to start!  The biggest thing that has happened was that Vivian started walking independently in January.  I don’t think she has stopped since!  It seemed to come out of the blue – her babysitter was playing with her, trying to get her to take a step to give her a hug.  Viv was having fun and didn’t realize that she was taking a step, then two, then three and so on to get to Becca.  Her motor planning came together and in typical “V T” (Vivian Time) she was walking on her own.  At just over 4 years old, the day so many of us have been waiting for happened.

I am a teleworker and happened to be on a conference call when she took her first steps.  When Becca came to my door and told me, I promptly excused myself from the call and proceeded to scream and cry and laugh and smile.  To this day I still tear up when I tell the story or even think about it.  I know I always will, as my daughter’s ability to walk is something I don’t and never will take for granted.

There is still much more work to do. She cannot walk up and down the steps independently, she has not yet mastered the art of standing (or sitting down) from the middle of a room.  Nonetheless, walking is her favorite thing to do, so she is getting lots of practice in!  Joy radiates as she walks, smiles and waves to everyone.  If you’re lucky, she may even blow you a kiss.

Independence Day

Vivian certainly lived up to this holiday’s name today!  I made sure today was a mother/daughter day.  We played outside, went for a walk, ate breakfast and lunch together.  When it was time for Dave to come home from work, I wanted to (hopefully) surprise him.

Vivian does everything on her own time. If we try and force her to do something, most times she ends up resisting for longer out of fear. We have had this walker at the house for a few months now. We have gotten her to use it for very short walks around the house. Never would she walk without our hands over hers – just as she won’t when walking without the walker. We knew not to push her too much, but she was enjoying taking walks up and down our court, that I decided to try using the walker outside.

Sure enough she started walking, while I slowly moved my hands up her arms, then down to support her trunk. Once she was comfortable with that input, I then went to simply holding the back of the walker. This is the closest Vivian has ever come to walking independently! Little Miss did not want to head towards home, she wanted to keep going. A temper tantrum in a neighbor’s yard ensued, but luckily her daddy had just gotten home and was able to coax her to turn around. We finished our walk and went inside to cool down. We ended up going out again this evening – here is a video of her walking all on her own!

All I can say is I am so incredibly proud of her! I have been struggling, wondering what the next step will be in terms of her physical development. Now I have my answer and feel she is one step closer to physical independence!

Happy 4th of July!

Feet

These are baby girl’s feet.  Her ankles look like this because of the missing fibrillin.  In August 2011 we got her SMO’s (Supra-Malleolar Orthosis).  The orthopedic’s office custom-made them for her.  At that time, she was still belly crawling, so they were sufficient (she did start hands-and-knees crawling in September 2011).  If she did do any standing, they helped to support her legs by keeping her ankles straight.  These orthotics were made with room to grow.  When they were nearing the end of their usable life, we met with the orthopedic doctor again.  I went to that appointment with much anticipation.  I had a feeling what the next step was.

Vivian had shown interest in standing and assisted walking.  As far as balance went, she pretty much had none.  When the doctor recommended we get AFO’s (Ankle-Foot Orthosis), my heart sunk a little.  OK, maybe a lot.  The SMO’s went just over her ankles and were pretty much unnoticeable.  AFO’s look like this:

The fact that something was wrong with my daughter would now be much more visible.

I knew I had to accept that these braces would help her, but nonetheless it was hard.  It still is.  Fortunately, she has made great improvements over the last few months.  Unfortunately, she is still not walking.  November 5 Vivian turns 3.

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.

MRI

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?