The princess of the epilepsy unit

Posted on April 9, 2014 by mommabear0208

As usual, Lily was a superstar in the hospital. Almost literally. She’s got a big fan base on the epilepsy floor and her smile helped us get a private room for our 48 hour vacation (hospital visit) which included lots of spa treatments (i.e., pee-pee bags, blood draws, and blood pressure checks, oh my!). The longest of the spa treatments, which takes over an hour to complete, is the scalp massage (i.e., application of the 24 leads on her pretty little head).

This girl, yet again, taught me a lesson in bravery and strength over the weekend. No tears (for her) during the blood draws; no complaints when the pee-pee bag went on (though I think she may have tried a bit of rebellion as she pooped when the bag was on, rendering the urine specimen useless); and she slept well through the night (even though she preferred sleeping on me to the hospital crib). She also surprised me by independently standing up on the chair and then trying to climb up the arm of the chair. I had a bit of a heart attack; she had a cheeky, proud grin on her face.

And really, the fact that this kid can climb up, and stand up on padded furniture – independently – is a miracle. It hit home on Sunday, when I went to my first Rett parents meet-up. The amazing Dr. Djukic presented on clinical trials for alleviation of symptoms, the executive director of the Rett Syndrome Research Trust (who is also a Rett momma and now a friend) discussed the research behind getting to a cure, and a PhD from Cambridge University spoke about eye gaze technology.

The conference room was bursting at the seams – people flew in from all over the country for this day. The family sitting next to me was from West Palm Beach (we have a playdate when we head down to visit our family!). Their daughter is 4 and is in a wheelchair. Another mom I met from Orange County, NY told me about how her daughter developed normally until age 2 and then regressed to a state of immobility (also in a wheelchair, age 5). She, and many of these other sweet girls, can’t even swallow anymore. My heart breaks for these families.

I feel somewhat out of place at these gatherings and on online forums. The Rett community is amazing. But I don’t really feel like I fit in.

Anyhoo… we were back at the hospital on Monday to see the neuro to discuss next steps for Lily’s treatment. She was on 10mg of prednisone (a steroid) for a month and now we are taking it down to 7.5mg a day. In a month, we have to go back to the hospital (only for a visit, not for another EEG – praise the Lord!) to check in and discuss if the change from 10 to 7.5 made a difference with her abilities (she is much stronger and more vocal since being on the oral steroids – BUT this may also just be a good period for Lily – she has her ups and downs and is this an up period which coincides with the steroid treatment? We do not know.)

In the meantime, we will continue to be visiting preschools, keeping up with her 30 hours a week of therapy and getting her evaluated for assistive eye gaze technology.

And of course, I will be working (I’m getting a new employee reporting to me from Mexico City!) and trying to sleep when I can so I can have all the energy needed for this amazing, sweet angel face.

Thank you ALL for all your love and support. Always.

Love,

C and L

Busy girls

Posted on April 3, 2014 by mommabear0208

For the momma, the week started out at a conference in Chicago. Twenty-four hour business trips have become the norm for me (at least when traveling within the US; when abroad it becomes a 48 hour trip). I presented a case study on how the Company I work for responded to Superstorm Sandy from a humanitarian perspective (if you ever wondered what I do for a living, click here for our report: http://www.mmc.com/citizenship-report/). I was back in Brooklyn by Tuesday evening.

For Lily, she started out with her usual schedule of therapies and naps and more therapies. She has been having a great week of word approximations and physical strength. BUT – the dreaded raspberry blowing has returned. O la la. Not fun. We are working to curtail this.

Yesterday morning we visited another preschool; Lily walked around like she owned the place. She was walking up to kids and adults, giving ‘Lily pats’ and even some kisses to a few lucky souls. All the teachers fell in love with her. How could they not?!

Today (Thursday) has been a ‘normal’ day for us (back-to-back meetings/calls for the momma and back-to-back therapies for the L-bug). Tonight we will rest up for an extra busy weekend. Tomorrow morning we go to the hospital (Montefiore in the Bronx) for an appointment with the GI doctor at the Rett Center and then we get admitted for yet another 48 hour EEG. So if anyone’s in or near the Bronx this weekend, stop by!

Wish us luck for this weekend.

Xo,

C and L

Resting up for our weekend vacation at the hospital

Retts and pets? Not in this household.

Posted on March 31, 2014 by mommabear0208

Holy shit. And I mean shit. (Sorry for those of you who are faint of heart.)

I thought getting a cat (not a kitten, but a full grown cat who is friendly and warm) would be a great companion for me and for Lily. So we tried it out.

Kitty lasted two weeks.

No, no! He didn’t die. I just returned him. You see, I had agreed with the woman who gave/lent him to me that I would foster him for a while to see if it would work.

It most definitely did not.

Why is this cat sounding more like an article of clothing rather than an animal? I’m really not that heartless. Believe me. It wasn’t an easy decision to make, at first.

It clawed around in my head the first few nights (as he clawed my sofa and rugs)… maybe I wasn’t up for this? Maybe a cat isn’t as low maintenance as I thought?

But then I’d think… he’s so SWEET. Look at him, licking my face (ick) and rubbing up against my legs (as I’d trip over him walking down the hall to make my morning coffee). The woman who gave him to me was right; he does act more like a dog than a cat.

And then I’d come home from a long day at the office to find kitty litter all over the apartment. I’d be down on my hands and knees cleaning up after him, muttering that this is not how I want to be spending my free time (like I have any free time!).

But then I’d look at him and say… he’s so SOFT! And it’s so nice to have a soft, sweet little guy around to keep me company when Lily’s not home with me.

What finally made my decision an easy one was this: Kitty has IBS. Like major diarrhea ALL THE TIME. And it just so happened that a few times, L and Kitty decided to poop within a few minutes of each other. I’d be finishing up cleaning one mess just to have another await me. (At least L wears a diaper so it is somewhat contained.)

The first time the 1-2 poop punch happened, I tried (TRIED) to laugh it off. But it happened one time too many (once is one time too many I think). That was quite enough for me.

So bye-bye Mr. Kitty. I won’t miss you licking my face in the middle of the night. And Lily probably won’t even notice you’re gone.

This was about as close to Kitty that Lily wanted to get.

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