Tag Archive | Partial chromosome 15 deletion

Preschool Orientation

I realize I’m long overdue to give an update on Vivian’s preschool experience.  Mine, as well.

Orientation.  Gratefully, my husband came with me.  I walked in and couldn’t help but look around.  I tried to see all the other children’s disabilities.  I don’t want to sound selfish, I did this to look for someone similar to Vivian.

I was desperate to find a parent who feels the way I do.   Who’s going through what I am.  I’ve basically given up.  I take each day as it comes – doing my best to keep trudging forward.  Doing my best for my daughter and family.  This is all I can do.

At orientation I find myself thankfully completing paperwork.  I notice Viv head towards a boy with cerebral palsy, who wears a helmet.  As she looks at him with her head cocked sideways and reaches to find out what’s under there – I’m filled with pride.  I hope his parents are happy someone is being so gentle with and paying attention to him that they are proud, too.  We of course stop her from taking off his helmet, but I think it’s a good first step.

There’s a big smart board in the room.  It’s the first I’ve ever seen, but it’s a huge touchscreen for kids.  We were waiting for our little miss technology guru to figure this out, but she had to be shown it much later.  We also learned she would tolerate cube chairs for circle time.  Good luck getting her to stay still was all I could think!  Dave and I observed her for a while.  We watched as she took to a brunette girl in her 20’s – much like her regular babysitter, Becca.  It was great to see her making a connection – although we’re not sure the girl knew what to think of Vivian taking to her so well!

A week or so later, I sent her to school with a little list:

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I don’t think this was bad!  She had a few days of summer school and then it was ready for the school year to begin on August 26.

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!

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.

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.