Advocate and mother

Posted on June 20, 2014 by mommabear0208

Tomorrow is a very big day.

It’s the day that we discuss the kinds of special services Lily is going to need in preschool. I’ve already presented the district administrator (decision-maker) with a letter from the Rett specialist emphasizing the need for certain services. Thankfully he complied with much of what was requested. And he agreed to the preschool location, and to the classroom size. BUT. But…

There are additional things that MUST be put into her IEP (individualized service plan for those of you not familiar with special needs lingo) which have not yet been granted.

It pains me as a mother to push for my child to have hour after hour of therapy. I want her to enjoy preschool and to learn to socialize. I am grateful for the NY Early Intervention program she’s participated in these past (almost) two years but it definitely lacks in the social skills enhancement category. It is all one-on-one instruction (and for Lily, that means 30 hours of one-on-one instruction). Preschool is going to be fantastic for her as she is such a curious and smart little person and is definitely interested in others. But she can only take it so far as she can’t speak (yet). And she doesn’t have great hand use. So – imagine trying to have a conversation or bond with someone when you can’t talk or use your hands. My sweetie.

I digress. Where was I? Oh yes. Basically tomorrow I need to advocate for Lily to get A LOT of services. A lot. Which means that she will be getting pulled out of the classroom many times, on a daily basis, missing so much of the socialization (and beauty) of preschool.

I want my sweetie to relax and enjoy and not have to work so hard all the time. But I know that if we don’t keep up with all of her therapies (and then some), she will regress. We see it every few weeks when the therapists try to pull away from a program which Lily has mastered to get her to learn something new. A few days, or weeks later when we go back to the old program, she can’t do it. She has to be retaught. These programs are things like shaking a maraca, brushing her hair, going up and down stairs.

It is heartbreaking. But Lily always relearns it. Relatively quickly.

Hence the need for intensive, constant services. I wonder when, if, it will ever end for her. We’ve been so lucky with her therapists that they are so loving and kind and make learning fun (most of the time). I pray that this will continue through her school years.

I pray that we find a cure soon so she won’t have to struggle so much.

And please say a prayer (or send a positive vibe – whichever you prefer) my way tomorrow as I’m feeling really sad that this meeting even needs to happen.

Love,

C and L

Preparing for preschool. Learning ‘quiet hands’ while watching Zac Effron (her favorite).

Me, tomorrow.

This past Monday – a rough day for the Rett Community

Posted on March 28, 2014 by mommabear0208

On Monday, three young girls (between the ages of 10 and 14) died from complications due to Rett Syndrome. I’ve been struggling with this all week. Mourning for these sweet girls. Mourning for their families. Mourning for everyone in the Rett Community.

I try so hard to stay positive about Lily and her diagnosis. But when you get hit (it felt like a punch in the face actually) with the news that 3 girls died in one day, it is not easy.

I bought three bouquets of daffodils for these three girls and have them prominently displayed in our kitchen/living room. To bring sunshine and happiness to me and Lily and to the memory of these girls.

It makes me feel selfish to take all of this so personally, but then I remember that this is part of the reality of my child’s diagnosis. And I also realize that Lily is different from each of these girls. I don’t know their stories, their struggles, their giggles. Maybe their Rett was on the more extreme end of the spectrum. I don’t know. And I didn’t want to look into it further as I pretty much put my head in the sand and walked away from FaceBook on Monday because of this news.

When I feel stronger, I’ll reach out to the Rett community to find out more. But for now, I’m just going to hold my baby extra tight and sing all the songs she wants so I can hear her beautiful giggles.

Below is a photo of Lily playing with her beloved Maureen, one of her many therapists who visit us each day.

Feeling grateful, and sad, but mostly grateful…

Posted on March 23, 2014 by mommabear0208

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 7^th, 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:

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.
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.
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.
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.
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.
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.
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!

Love,

C and L

Newest Diagnosis for Lily

Posted on January 25, 2014 by mommabear0208

And it’s the hardest one to digest yet. We were at the hospital today to check in with the neurologist on how the steroids are working (I’ve not seen a marked difference, except in the size of her cheeks and tantrums) and I pushed the doc to give me the results from the genetic testing, which we weren’t scheduled to get for another 5 weeks. Anyway, we got the results. And Lily has Rett Syndrome (which falls under the autism spectrum, but is so much more than just autism). Confirmed by the geneticist. This is likely the cause of her ESES (rare form of epilepsy) and the reason for her regressions. We will stick with the steroid treatment for the next few weeks but if we don’t see any major improvements, this medical avenue will end.

Please, please, please send us both strength and courage and virtual hugs as we both need them; me probably more than her!

Lily is still the sweetest, prettiest, kindest and bravest little almost 3 year old out there. And I’m still convinced that she’s going to live a kick-ass life.

To learn more about Rett Syndrome, here’s a relatively comprehensive, yet digestible, fact sheet on it:

http://www.ninds.nih.gov/disorders/rett/detail_rett.htm