Spring Break!

Posted on April 22, 2015 by mommabear0208

Our tans are fading but our memories are still strong! Lily and I had the best time in Puerto Rico. She was the perfect resort mate – her goal for the week was to laugh and relax as much as possible. Going for long walks on the beach, lounging by the water, making friends and flirting with boys… This girl was in her element.

I’ve said this before and I’ll say it again – Lily is a social butterfly. I most definitely am not. But I’m so grateful for this sweet butterfly – we met some wonderful people on our vacation – because of Lily. We were treated like royalty – because of Lily. We even got offered a free dinner by a handsome guy – because of Lily!!!

I can’t wait to plan our next beach getaway!!!

A new year, a new start

Posted on January 3, 2015 by mommabear0208

Even though 2014 was the hardest, most challenging year of my life, it was also a beautiful year full of love and giggles. Life can be brutal. But also beautiful. Sometimes at the same time. I choose to focus on the beauty.

2015 will be a year of physical, spiritual, emotional, and financial recovery for me. And relentless research and fundraising for a cure for Rett Syndrome. And lots and lots of giggles.

And now… I want to share some articles I’ve been touched by (it seems that some fellow mommy bloggers have been reading my thoughts)… and some good news about a new legislation which will help me save for Lily’s future….

A Cliche

“It could be worse.” “Somebody else always has it worse than you.” I think it is so unfortunate that these two statements, essentially just different versions of the same sentiment, have become a cliche. Regardless of their cliche status, I say one or both of them to myself almost daily. Rett Syndrome is bad, I am not denying that, but it could be worse……

…I’ve heard people complain about how much their children talk. I have heard any number of similar gripes come out of other parents’ mouths, but I never say, “It could be worse.” That will invite a look of pity, shame, embarrassment, maybe annoyance. But what I wish is that more people in the world would just remember on their own how good they’ve got it. Read more here.

How I Navigate the Stormy Waters of My Daughter’s Diagnosis

I never really know the cause of the storms. Sometimes it’s just seeing the gap grow between her and her similarly aged friends. Sometimes it’s a phone call from a specialist, sometimes it’s making a phone call to a specialist. Sometimes it’s nothing. Read more here.

ABLE Act: For people with disabilities, a tax-free way to save

President Barack Obama on Friday signed into law a bill that will allow families with children with disabilities to save for college and other expenses in tax-deferred accounts. Read more here.

Thank you for supporting me and Lily in this beautiful life.

New Year’s brunch with my favorite person!

A better than normal life

Posted on July 15, 2014 by mommabear0208

In my world, life these days is far from normal.

Last week, Lily and I went on vacation. It was the first real vacation this sweetie pie has had in well over a year. It was such a treat, on so many levels. Spending an entire week straight with my daughter is a rare occurrence. Not having my daughter at home with me every day breaks my heart. But I can’t walk around heartbroken. It won’t do either of us good. So instead, I cherish every moment I have with her. Better than normal.

We started our vacation in New Jersey with our cousins and then drove up to the Cape to spend the week with friends. Perfect weather. Perfect company. Amazing hospitality. Getting handed a hot cup of coffee every morning, not having to think about what to eat for lunch or dinner (wow, did they feed me well) and hanging out with Lily so that I could swim a few laps – this is what I call luxury. And love. We were both so loved and cared for that week. Better than normal.

I told myself before we left for our holiday that I would NOT stress out about the upcoming apartment hunt, that I would not check my work email, that I would not worry about the future. And you know what? Looking back, I did a pretty fantastic job of not worrying about any of these things. But this is mainly because everything got trumped by one big, scary event that happened on the day we were driving up to the Cape. My mother fell gravely ill while on vacation in Italy and had almost died.

Even as I write now – a week later, my mother is still in Italy, in a hospital. Thankfully she is recovering and has finally been able to eat something today. My sister (who was in Italy with her) has been taking great care of her; my brother Matt is heading out tomorrow to take over. And me? Well, the guilt I feel of not being able to drop everything and go over there is palpable. But I am doing what I can from here. And once I find us a new home, I’m on the next plane to Italy. (I may dedicate my next post to the soul-sucking experience of apartment hunting in NYC.)

But this post is about a better than normal life… So actually, it’s amazing to me that my mother – the fighter that she is – survived. It’s amazing to me that she is getting better day by day. It’s amazing to me that she has so much love and support from her family and friends.

What else is better than normal? Watching my silly Lily run and giggle up and down the beach at the Cape while making friends with everyone she came across, and knowing that things could have been very different for her.

The ‘bruty’ of life

Posted on May 30, 2014 by mommabear0208

A few months ago when I was in London, I had a chance to catch up with a dear friend who has had her fair share of struggles. Over tapas and red wine, we talked about how life can be both beautiful and brutal at the same time. Hence, the word ‘brutiful’. I can’t take credit for this word. Another mommy blogger came up with it. But wow – so fitting. And so true.

The past few years, and especially months have been both of these things – beautiful and brutal. Every day I watch my sweet Lily and am amazed at how loving and kind and sweet and smart and resilient she is. And then I get bogged down with her diagnosis – the seizures (she had her very first seizure last week), the fears of when/if other Rett monster symptoms will poke its head out, the struggles she has to deal with on a daily basis. It is brutal. And it knocks the wind right out of me.

But then I look at my little girl and shake myself out of my gloom and remind myself that she has so much potential. And she is perfect. Just as she is.

I have been accused of being overly optimistic about my sweet angel. But this is not the case. I am well aware of the gravity of this diagnosis. But I refuse to live my life in a state of brutality. I choose to focus on the hope, the potential, the beauty.

Cousins – one of the greatest gifts from God.

Her second-most favorite place to be; the first being her mommy’s lap.

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