Tag Archive | connective tissue disorder

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!
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Happy 4th of July!

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Feet

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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:

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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.