Some good news

The week started out tough.  Lily got a ‘failure to thrive’ diagnosis on Monday from the nephrologist.  This is like getting (as one wise Rett momma so eloquently put it) a punch in the gut.  Hearing those words, especially as a mom, well… the guilt and disappointment and anger is indescribable.  I walked away from that appointment trying to not feel like a total failure as a mother. Thankfully my kid was being extra sweet and silly which helped shake me out of my funk.

The next day I got a video from school showing Lily holding onto the handlebars for close to 40 seconds while riding a bike.  This is HUGE.  Her hand function has slowly been improving over the past few weeks.  I can’t post videos to this site so you’ll have to settle for a screenshot instead.  If you’re on Facebook, I’ll be posting the full video shortly.

And then this morning, we had to see her pediatrician to get his signature for a Medicaid form.  They do not make it easy to get, nor maintain Medicaid but holy cow am I glad that Trumpcare failed because I’m not sure what we’d do without it.  But I digress….  We did a weigh-in at the same scale we used 5 weeks ago and according to the scale, she gained 2 pounds.  It’s taken a lot of effort – and patience – for both Lily and her nannies, therapists, teachers, parents, etc. to get here.   And we’re not done yet.  She’s still 3 pounds away from where she was 6 months ago but she’s starting to gain it back.

How did she gain 2 pounds in 5 weeks?  Well, Lily’s been on a steady diet of home-made mac-n-cheese, duck, tater tots, cupcakes, avocados, yogurt, pudding and pizza.  I’m still slipping in super healthy stuff for her morning smoothies to ensure she’s getting the vitamins and minerals her body needs.  But she’s basically eating anything and everything she wants.

In two weeks we are seeing the GI doctor to discuss further this ‘failure to thrive’ issue but I’m hopeful that the conversation will be a mostly positive one.

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Holding on to the handlebars like a pro!

A hell of a disorder

What a difference a day makes. Yesterday she could barely stand. Today she walked to school all smiles.

She was super wobbly when she woke (unfortunately this is quite common most days) and she only had a few tiny sips of smoothie this morning. But once I started talking to her about her day (school with friends, and then summer camp), she perked up.

I’m grateful for these mornings when she can walk to school. And it’s in these moments that I remind myself how lucky we are.

We have a few big doctors appointments coming up. Next week we are checking in with the nephrologist about the pee situation (which is still a pretty big issue). And then in August we are seeing the GI doctor. This appointment is the one I’m dreading the most. You see, Lily has lost 3.5 pounds since February. This is a lot of weight loss for her tiny frame. We will be discussing whether she needs a feeding tube. Her eating has not returned to the levels needed and it is concerning (to say the least).

I will keep you posted.  In the meantime, we will continue to make the most out of this summer.  This may just be my kids favorite season. And damned if we’re going to let Rett Syndrome get in the way of our fun.

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Anxiety

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Adventures with mommy! Pete the cat book launch followed by lunch at 5 Napkins and a stroll in the park (mom had to do minimal carrying of child)

I know these photos don’t depict a child struggling with severe anxiety but she is.

Screaming and crying for hours at night, unable to be consoled in any way, it’s been heartbreaking. And exhausting.

I’ve been in touch with her specialist. We are considering changing her sleep medication. She’s only on one medication for sleep. Clonidine. And am so grateful that we’ve been able to keep the drugs to a minimum so far. Most girls with Rett syndrome are on upwards of half a dozen medications.

Clonidine obviously hasn’t been working so great lately. But I may have found something that has – continuos release melatonin. It never worked for her in the past, but the past two nights she’s been sleeping. Is it luck? Is it melatonin? I don’t know. But I hope we continue with this streak.

Stronger

The past few months have been extremely stressful so writing posts has not been a top priority.  However, I didn’t want to leave you hanging for too long.  I’m proud to say that Lily has been showing improvement in many areas.  Her appetite has come back (for the most part), her peeing has normalized (for the most part) and her gross motor function/walking has also returned (for the most part).  Her breathing is still an issue though that too seems to have gotten better.

I have been obsessed – OBSESSED – with her caloric intake.  And I’m pleased to say that a steady diet of pizza, cheeseburgers, hot dogs, rice pudding and vanilla yogurt coupled with her morning smoothies (which has a pediasure base and some raw veggies that I slip in) has helped her fill out and get stronger.  She still has more weight to gain but many days I’m finding myself not completely stressed and uptight about her eating.  It’s helped that most days she’s opening her mouth for food and is genuinely interested in eating again, though her former diet of uber-healthy food has screeched to a halt.  Whatever.  The kid is eating.

But I can’t completely relax.  We still have days that are difficult for her.  Really difficult.  Heart-breakingly difficult.  And I’m trying to shake the hangover of what she went through these past few months but I can’t completely.  Rett Sydrome is always lurking around and we just never know when it will pounce.  I can’t make this the focus of my attention as it will destroy me.

So I remain in hope.  And there’s good reason.  Last month two significant announcements were made about Rett research.  One was regarding a research trial on a drug that ameliorates a handful of painful symptoms in our girls.  And the other was regarding the path toward a cure using gene therapy.  Awareness-raising and fundraising are now more important than ever.

Until the cure comes, us warriors will continue to battle against the day to day struggles of Rett Syndrome, and we’re going to do our best to have as much fun along the way.

Love,

C and L

 

Spring Break 2017

Spring Break 2017 in South Florida with Grandma and her cousins!

Throwing (almost) all the rules out the window

For at least two years, Lily was on a strict GAPS diet (basically grain free, dairy free, sugar free). When she started preschool, I started letting her have pizza (pizza Fridays!) and a nibble or two of a cupcake if there was a party at school. Safe to say, 90% of the time she was eating clean and healthy food. And she loved it

But then about 3 months ago, when things started heading south for her, one of the things that was impacted was her voracious appetite. She no longer harasses me in the morning to get her smoothie. Now she won’t even open her mouth to drink it. Lunch and dinner are pretty much the same. Mouth shut, not interested in eating.

Lily was a slight kid to begin with (even when she was eating voraciously) but now that she’s lost interest in food (for the most part), she’s gotten dangerously skinny. At this point I’m feeding her anything that will get her to open her mouth. She’s had pizza for lunch, and dinner at least 4 times this week. Tonight we ordered a bacon cheeseburger with fries and a vanilla milk shake for dinner. Anything that will get this kid interested in food again. She needs to gain weight. Urgently. And she will.

A visit to the ER

Rett Syndrome has robbed so much from my child already – her voice, her ability to use her hands purposefully, her ability to breathe normally, her independence. The latest: it’s been robbing her of her ability to pee.

With Rett Syndrome – everything, and I mean every function that the human body needs to thrive – has the capacity to fail.

Lily was feeling absolutely miserable last Sunday. She hadn’t peed in over 24 hours though her liquid intake was normal over this time period.  And I was hopeful that she had a UTI, as this could explain the urine retention, but alas the results came back negative.  So I guess we got one answer – it wasn’t a UTI.

So I turned to the Rett Syndrome family support group to see if they had any suggestions and one mom sent me to this article.  I remember hearing that some girls with Rett have trouble peeing from time to time, but I never knew the extent of how dangerous it could be.

Next step? Adding another specialist to the list – a pediatric urologist. And likely I will need to learn how to catheterize my sweetie. We can’t go to the ER every time she needs to pee.

D-Day

Tomorrow it will be three years since we got the Rett Syndrome diagnosis.  Sometimes it feels like time has stood still since that moment.  Sometimes it feels like time is racing by.  Sometimes I feel like I’m on top of it.  Sometimes I feel completely defeated.

These past two months have really put us to the test.  And I’ve been more afraid now than I was when I first heard the words ‘your daughter has Rett syndrome.’  I don’t think it’s because I was naive to what the future could hold. I’ve been cautiously optimistic that my kid would beat the odds and be healthy.  And we’ve taken every measure to try and make this a reality.

However, her health has taken a nose-dive as of late, as many of you know.  And I’m still looking for answers to what’s been going on.  But have come up with nothing new.

Physically I’ve noticed that she has been getting stronger.  Afternoons and evenings are better for her.  She can walk around most evenings completely independently and somewhat safely.  But mornings… they take my breath away.  And not in a good way.  Most mornings she is struggling to stand.  Some mornings, she can’t even get herself up to sit.  But when she is struggling, she has a smile, and a determined look on her face.  It’s almost like she’s saying ‘I’m going to have fun while fighting this.’  I try to take her lead on these things.  I really do.  But it’s fucking heartbreaking.

Just as she’s been seemingly getting physically stronger, a new symptom has reared its ugly head out which is putting a wrench on her recovery.  Breathing.  Or lack thereof.  The past two nights in a row, it’s taken her 5 hours to fall asleep.  Breath holding and hyperventilating for hours at a time.  She’ll fall asleep, but forget to breathe while doing so.  Which means that a few moments later she wakes up gasping for air.  It’s been this terrifying cycle to watch.  And there is nothing I can do but hold her hand and tell her I love her and that I’m proud of her and that we will figure this out.

In a few weeks she is going to have a birthday.  Six years old.  In many ways she is a typical 6 year old – she loves to play dress up and read stories and giggle.  But in so many ways she is not.  There are way too many hospital visits.  Way too many health issues.

The scientific community is inching closer and closer to a cure.  Some say it is a matter of 3-5 years.  This is not soon enough.  But one day, Lily will be rid of this Rett monster.  This is a fact.

For those who were considering sending her a birthday gift, the greatest gift you could give would be making a donation to the Rett Syndrome Research Trust.  In honor of Lily’s birthday and diagnosis day, I’ve created a fundraising page specifically for her.  I have an audacious goal of raising $100,000 by year end.  Help me get there.  Help me spread the word.

A cure is in sight.  And it can’t come soon enough.

Here is the direct link: https://rettgive.org/projects/a-cure-for-lily/