Feeling grateful, and sad, but mostly grateful…

Hi family and friends,

Sorry for the long silence.  It’s been a very busy few weeks.  Doctors visits, preschool visits, a quick trip to London (just me, not L), and the general busyness of my job and life with Lily… time seems to slip away.

But at least it’s spring!  (I’m going to ignore that it’s supposed to snow on Tuesday).

Lily has been great.  She is going through a really strong phase where she’s not having any troubles holding her bottle, or pulling herself up to stand (which she did twice yesterday on my friend Stefanie’s cushy sofa – I was awestruck).  She’s trotting around (almost running) and going on long walks with her momma through the park.

To many of you this may sound like silly things to be proud of.  But for Lily, especially given her Rett diagnosis, these inchstones* are miracles.  Truly.

(*This is a commonly used special needs momma phrase.)

On March 7th, we met with Dr. Sasha Dujkic, a neurologist who has dedicated her life to Rett Syndrome research and advocacy.  Dr. D spent three hours with us that day.  Can you believe that?  A doctor who spends hours with you, talking to you, answering your questions, explaining to you this complex genetic disorder…. have you ever heard of such a thing?  (Other than my cousin Ann, of course!)

There was so much to take in that day…  I’m still wrapping my head around it.   Will try to share with you the highlights:

  1. An overwhelming majority of girls with Rett Syndrome can’t walk, talk or use their hands in a meaningful way.  Most need feeding tubes and many have respiratory issues.
  2. After Dr. D evaluated Lily, she said that Lily is likely done with the major regressive phase and that she will continue to walk (horrah!) and that her overall health looks great.  There is a list of about 10 specialists who work at the Rett Center (from orthopedic surgeons to cardiologists) and Dr. D said that Lily won’t need to see the majority of them.  HUGE sigh of relief.
  3. I asked about Lily’s specific mutation and if Dr. D could read anything into it (I had heard from other Rett mommas that you could get a better understanding the impact of the disorder on your girl from the actual genetic mutation) and Dr. D said that this is pretty inconclusive.  And then explained that Lily has the more severe form of the mutation which for all intents and purposes would mean that she would have the ‘classic Rett’ (no walking, talking, meaningful hand use) but it hasn’t presented that way with Lily.  Theory squashed.
  4. Dr. D said Lily will likely never talk or write.  This is where the doctor and I disagree.  This little girl is going to talk and she is going to write (you should see some of the art she’s been creating lately!).  Dr. D doesn’t know me…  Obviously.
  5. The big struggle with all girls with Rett, including Lily, is the issue of apraxia.  Whole body apraxia.  What is apraxia you ask?  A very good question, and here is the answer:
    Apraxia (from Greek praxis, an act, work, or deed) is the inability to execute learned purposeful movements, despite having the desire and the physical capacity to perform the movements. Apraxia is an acquired disorder of motor planning, but is not caused by incoordination, sensory loss, or failure to comprehend simple commands. It is caused by damage to specific areas of the cerebrum.
  6. Apraxia impacts everything from her ability to form words to her ability to poop, and everything in between. She has the desire to do it all and actually has all of the ‘hardware’ to do it, but her brain and body aren’t talking to each other effectively.  It’s more of a ‘software’ issue, to use computer terminology.
  7. Girls with Rett Syndrome are literally trapped in their own bodies.  They often have overly intelligent minds. And Lily is  just so smart.  I’m not just saying this because I’m her mom.  Therapists and doctors have said this from the very beginning about her.
    So how do we tap into this brilliant mind of hers?  Well, assistive eye gaze technology is something she was exposed to at the hospital visit, which she took to quite quickly.  My cousin Maria (who graciously came with us to the appointment) told me that within 5 minutes, Lily was asking for blueberries, using her eyes!  Pretty amazing.

Next steps with the Rett doctor – schedule a visit with the following specialists – GI doc (for Lily’s chronic constipation which is typical of Rett sweeties), dentist (she needs a cleaning and they have a dentist on staff there as dental issues can arise for these sweet girls), and speech therapist (to learn more about the eye gaze technology and other forms of communication).  Also Dr. D has offered to speak to the directors of the preschools Lily may attend.  It will be very important for Lily to be in a setting with verbal, social kids.  Lastly, we will have a follow-up appointment with her in 6 months.

In the meantime, Lily and I will continue to learn, giggle and eat lots of berries!


C and L

Springtime 2014


6 thoughts on “Feeling grateful, and sad, but mostly grateful…

  1. Love that girl! She’s a strong and beautiful firecracker like all the women in my life. Kisses to Lily-Bear, and her equally strong and beautiful momma. We look forward to the updates.

  2. She’s already defying the odds and will continue to do so! She’s tiny, but she’s a warrior – no doubt! Love that angel.

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