Our Favorite Season

Posted on October 24, 2015 by mommabear0208

It is without question that autumn is our favorite season of the year. The weather is mild, the leaves are turning all sorts of crazy beautiful colors and we don’t have to pile on the layers of clothes.

Lily has been doing some amazing things lately, which may or may not be linked to the statins trial she is taking part in. Yesterday when she got off the school bus, we went for a stroll in our neighborhood to look at all the leaves. She walked a straight line for practically the entirety of our time out. Also, the nanny and some therapists have been telling me that Lily has been much quicker to pull herself up from when she falls. She still needs to pull her way up, whether holding onto a sofa or a table, but the way in which she is doing it looks almost ‘effortless’, at least according to the nanny.

I’ve not been able to witness her effortless transitions to stand yet but I know I will. I had one of those weeks where I didn’t make it home in time to put her to bed – not once. Every night was an event about the kindergarten process (except for the one evening when I went to a fundraiser for a nonprofit which was super fun). I have learned so much this week (including that nuns can be amazing auctioneers). And I’m feeling more hopeful that I’m going to find the perfect school for Lily next year.

In the meantime, she and I are going to enjoy the weather, prepare for Halloween, and go for long strolls through this beautiful neighborhood that we love so much.

Sleep no more

Posted on September 19, 2015 by mommabear0208

As many of you know, this is the title of a popular, yet confusing and somewhat annoying show here in New York City. It’s also the title for my life right now, which is somewhat confusing and annoying.

I know this sleeplessness is just a phase. But it’s going on way too long. And it’s different from her previous episodes. Lily’s inability to fall asleep lately is tinged heavily with bouts of hysterical laughter. Yes, it’s cute. And a lot of the time I do laugh alongside her because her giggles are infectious. For those of you who are fortunate enough to have heard her belly laugh, you know what I’m taking about. But at midnight? When it’s been going on (and off) for a few hours? It’s not so funny. It’s downright alarming. And annoying. There, I said it.

So I’ve been researching the laughter. And it turns out, it’s one of the many facets of Rett syndrome. Something neurological is going on in this kid’s mind. And it is likely linked to the increased ‘Rett episodes’ she’s been having. Yup. In August, and into September there have been more than a few times that she’s woken up, shortly after falling asleep, with scary shaking and convulsing spells: she’s fully aware of what’s going on and is looking at me with terror in her eyes begging me to make it stop. That, my friends, is Lily’s version of a Rett episode. It’s not a full on seizure as she’s present during the convulsing. But something terrifying is going on in her brain. And it’s terrifying the both of us.

These episodes have also impacted her physical function. She’s become much more clumsy these past few weeks.

We are going back to the hospital in early October to see the Rett specialist. Likely the doctor’s recommendation will be to give Lily the trazadone she prescribed last year when her last awful sleepless period happened.

For now, I’m keeping an epileptic activity journal, noting all the times Lily has these ‘Rett episodes’. And, in the meantime, I will do my best to keep laughing alongside my sweetie.

Lily’s favorite sleeping position, ‘the starfish’.

Brave

Posted on July 31, 2015 by mommabear0208

So here we are. Back at the hospital.

Lily is participating in a research study over the next 40 weeks on the impact of cholesterol on girls with Rett syndrome. The premise: lowering cholesterol levels in the brain (which are unusually high for girls with Rett) will improve gross motor function. Preliminary research is promising. (And if interested, I will email you the research paper).

I’m filled with tempered hope that all these tests my sweetie is, and will be, undertaking (along with 19 other Rett sweeties) will be worth the effort.

She is so brave. She is so strong. And I’m in awe at how she is taking all of these wires and pricks and prods in stride.

Our follow up appointments – thankfully – will be much less intrusive than this first visit.

I will be sure to keep you all updated on the progress.

C & L

My daughter has Rett Syndrome

Posted on May 18, 2015 by mommabear0208

Up until today, there were only three people – in the past 16 months – who understood the gravity of these words when I spoke them: ‘my daughter has Rett Syndrome’. Two were dear friends who happen to be doctors (though don’t assume that all doctors know what Rett is) and another had a close friend whose daughter has it.

Otherwise, I got a ‘um, wow. that sucks.’ or a ‘I don’t know what that is’ or – for the most part – I didn’t even get a response to an email when I was reaching out to someone to tell them.

I’m not upset at anyone about their lack of response. Rett Syndrome? Huh? What is that?

But today these words ‘my daughter has Rett Syndrome’ brought a stranger to tears.

I was sitting there watching Lily at her Sunday morning horseback-riding class in Prospect Park, proud that she wasn’t having a complete meltdown on the horse (she’s been known to totally lose it on Cinnamon, the sweetest, oldest horse I have ever seen) when a woman sitting next to me asked if the stables were close to Prospect Park. I told her that these stables are in Prospect Park!

I then asked her where she was from, as it was pretty obvious she wasn’t from Brooklyn. She’s from Long Island and came down to Brooklyn with her son to volunteer at GallopNYC through a program with JPMorgan, where she works.

We got to talking about corporate volunteer programs (which is something I know a lot about) and how grateful I was that she, and her teenage son, were here to volunteer to help kids and adults with disabilities ride horses.

Her son was one of the 5 people who were supporting Lily on Cinnamon that day.

So I began to tell her about Lily and I mentioned her Rett diagnosis. She grabbed my knee, started crying and said, ‘I had no idea.’

She was shocked – she couldn’t believe how well Lily was doing. This lovely woman then went on to tell me that she had a niece with Rett Syndrome. Eventually, she told me that she signed up to volunteer at GallopNYC to honor the memory of her sweet niece who recently passed away at 5 years old due to complications from Rett Syndrome (it sounds like it this sweetie had a very severe case).

I think this woman walked away from our conversation with hope – that Rett Syndrome isn’t always the prison sentence it’s made out to be. I walked away humbled, as always, by how well my kid is doing.

And it brought me to tears.

A correspondence I never wanted to write

Posted on March 10, 2015 by mommabear0208

Hi Dr. Djukic,

I hope you’re well.

I wanted to check in with you because a few things have been going on with Lily lately. And I think we may need to schedule an EEG to have her monitored.

Two weeks ago she had what I would describe as three Rett episodes in a row. She was present but shaking and frozen uncontrollably, at the same time. If that makes sense.

Last week I believe she had two seizures and they were very close to each other in timing. These look different from the Rett episodes in that Lily wasn’t as present and she was foaming and spitting at the mouth a bit.

Please let me know how you would like to proceed.

Thank you.

Christine Salerno