Join me on November 2nd in NYC to celebrate our amazing Rett sweeties

Posted on October 8, 2015 by mommabear0208

In my spare time (!), I help raise awareness and funds for Rett Syndrome Research Trust (RSRT), an organization that is near and dear to my heart. Prior to last January, I had never heard of the organization, but since then, they’ve become a crucial part of my life, and my hope for my daughter’s future.

As you all know, Lily was diagnosed early last year with Rett Syndrome. It’s not a high-profile diagnosis, but it is a devastating one. Rett impacts 1 in 10,000 girls and women, and most are wheelchair-bound by the age of 2.

Lily is one of the lucky ones. This year alone, she has lost – and then regained – her ability to swallow and use her hands purposefully. She walks (or runs!), has some hand function, and doesn’t need a feeding tube. She’s also making HUGE progress in her communication skills, with the use of specialized eye gaze technology. I want to thank you for taking part in this journey with me. Your support through this blog – both near and far, is indescribable.

I also don’t know what I would do without her army of therapists and doctors (at last count there were over 25). They have become like family to me, as have my friends at RSRT.

Sleeping peacefully during an EEG yesterday at the hospital.

This organization has made remarkable progress in advancing research on Rett Syndrome. A few years ago, approaches attacking Rett at its genetic root were not possible. Today there is scientific evidence that gene therapy could offer an effective way to treat – or even reverse – the disorder. RSRT is spearheading an ambitious gene therapy project to make this possibility a reality.

But we need your help to continue this scientific momentum and to support more research projects. I hope you can join me this year at the RSRT’s 7^th annual Reverse Rett fundraiser to celebrate our girls and help work towards making their fugures even brighter.

Please click here for details. I hope to see you there! If you can’t make it, please consider making a donation – any amount, small or large, helps us get one step closer to a cure.

Thank you.

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