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

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.

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

A week at the hospital

Posted on January 6, 2014 by mommabear0208

Happy new year. We’ve been busy girls. At the hospital since Monday. Don’t know what day today is. But I think we can leave on Saturday. I really hope so.

We are making the most of it. I keep telling L we are on vacation – at the hospital!

Started the steroids a few says ago (to treat the ESES – a rare form of epilepsy she got diagnosed with the last time we were here). Today was my first time giving her an injection. She didn’t cry. But I sure did. My sweetie.

I’m hanging in there. One of my best friends from grad school was here with us the first two days and then the nanny came for a visit yesterday. John’s been popping in and out. So I’ve been getting some breaks here and there. Today a friend is coming who I met at the ashram over New Years.

Exhausted. But L is doing great.

Please keep sending positive vibes this way.

C & L

ESES? Huh?

Posted on November 23, 2013 by mommabear0208

Many of you know that Lily was in the hospital last weekend for a scheduled 48 hour EEG (which turned into a 72 hour EEG). Her developmental pediatrician and her neurologist (yes, she has both) recommended it to rule out seizures. This is common practice for children who have a regressive form of autism (i.e., speaking and developing normally, then not – which is Lily). I thought we were going in to just check a box. My kid doesn’t have seizures!

Well, she’s not having seizures. BUT she does have a rare form of epilepsy (1% of the population), in the form of having frequent electrical discharges (as much as 80% in her sleep and also sometimes while awake). Which in medical terms is phrased ESES – electrical status epilepticus in sleep. And in non-medical terms is phrased ‘Penelope Syndrome’ for the tale of Penelope, who weaves all day long and then when she falls asleep, it all unravels and she has to start again.

This could help explain why, after over a year of 30+ hours a week of therapy, my baby still isn’t talking. She’s super smart (and the sweetest and bravest little thing ever) but yet her words come and go.

This also could mean that Lily doesn’t have autism. But this new diagnosis is also no walk in the park. The only known treatment for this is medication. I’m not excited about putting my two year old (almost 3) on meds but I’ve read that this could be life-changing (with a lot of therapy still) for her. Or not. But I’m going to stick to the former.

We have numerous appointments over the next few weeks (on top of her scheduled therapies) to find out more. I was able to find one of the only pediatric ESES specialists and make a relatively quick appointment with him (often-times, it takes about 6 months to get in with specialists. We only have to wait 2 weeks). Keep us both in your thoughts and prayers,

Lastly, I’m not a bible-reader but I came across this quote. For Lily:

“She is clothed with strength and dignity, and she laughs without fear of the future.” Proverbs 31:25

Love,

C and L