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.

Thank you!

The other week I launched a matching campaign to celebrate Lily’s birthday.  I was overwhelmed by the donations that came pouring in.  Within 24 hours, we had raised well over the $1500 target.  The campaign is now at 12% of my fundraising goal for the year.  Obviously we still have a ways to go but please continue to share this link with family and friends near and far.  We are getting so close to a cure and holy cow do we need this now more than ever.

img_5529

Scenes from a Lily Poppins Birthday Party!

Celebrating Lily’s birthday

On February 8th, Lily is going to be six years old.  In honor of her upcoming birthday and my unwavering desire to obliterate Rett Syndrome, I will match up to a total of $1500 donated to her RettGive.org page between today and the 8th.

I’m so proud of this kid – she literally smiles in the face of adversity. I see it every day when she’s struggling to stand, walk or breathe.  I see how hard she works to do – well – almost anything right now.  I pray for the day when Rett Syndrome will be just a painful memory.

For those who have already generously donated… from the bottom of my heart, thank you! Your support and love is palpable.  For those who’ve not gotten around to it yet, or don’t feel that giving $10 or $20 will make a difference, believe me when I say that every dollar counts.

Lily is the bravest, sweetest, smartest, hardest working almost 6 year old that I know. And I know that one day in the near future she, and her Rett sisters, will be cured.  But without funding, it will remain a pipedream.

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/

 

 

Struggling

I am not going to sugarcoat what’s been going on. Lily is having an extremely difficult time doing things she used to do effortlessly like sitting up on her elbows, standing, walking, breathing.

I’ve been busy trying to procure additional help at home – whether it’s friends or family stopping by in the evenings or hiring a morning aide to come and help us get out the door. We just got approved through Medicaid for a home health aid to be with us 24/7 but there are still numerous steps to actually get that support into place. It still may be a matter of months until this service kicks in.

We are navigating through a new, terrifying TEMPORARY time. Through it all, this kid amazes me with her determination, grace and beauty. She is my hero.

img_0234

Home

We are so relieved to be home. And so grateful for the help we’ve gotten to get back here and get settled back in.

Yesterday Lily’s dad met us at the hospital and sherpa-ed us through the snow storm to our apartment.  I do not travel lightly with these hospital visits. Pillows, blankets, blenders, food – you name it, I bring it. We had a lot of luggage.

Once home, John started working on Lily’s hair while I started unpacking/doing laundry. He left shortly thereafter. I put Lily in the bath. Washed her hair three times, scrubbed her down, got her all clean.

Then I jumped on a conference call with other Rett mommas to talk about fundraising strategies.  It was a great way to wile away an hour of combing out Lily’s knots. But alas, her hair defeated me. EEGs and long hair do not go well together. I got through about half of the tangled mess.

At 5:30pm the doorbell rang with hot food from a wonderful Italian restaurant, courtesy of Beverly Salerno.  She just did it. Food just showed up.  Like magic. It was an amazing gift.

Stephen (my wonderful boyfriend of many months) came over a little later with wine and groceries. He set up our dinner while I fed Lily.  Then he watched her so I could finally shower off the hospital germs.  I’m quite the germaphobe for those unaware.

After I put Lily to sleep, we ate. It was delicious. I fell asleep on the sofa afterwards and when I woke an hour later, Stephen had done my dishes and finished the laundry. It was like waking from a dream!!

Today Lily and I are recuperating. Lily continues to have her ups and downs. Sometimes she walks well.  Other times she can barely stand. We have quite the road ahead of us. But soon enough we will be climbing those hills again.

img_5212

Playing dress-up yestersay while waiting to get discharged

img_5234

Visiting with Urzsula and Shamekia earlier today

 

 

Searching for answers

It started with her having 2 bad Rett episodes (shaking and freezing and groaning) back to back and then getting strep in late November. It was while we were in Florida for thanksgiving that I started to notice her left arm freezing. And then a few days later her left shoulder looking like it was getting pulled back and then a few days after that watching her entire body writhing (not convulsing) and knocking her to the ground.

So we did the home EEG. During a 24 hour period we saw two dozen of these writhing events. It turns out they weren’t seizures. However, she did have one seizure in her sleep the night of the home EEG that I didn’t even notice (she slept with me that night).

Before we got the results back from that EEG, I made the decision to put her on anti-seizure medicine. The meds initially worked. And then they stopped. And then she got even worse. Lips turning blue, breathing labored, mobility worsening. Zero energy. Little appetite.

So we went to the hospital. We were admitted yesterday and will be leaving tomorrow.

What did we learn at the hospital? Well these episodes we are seeing are definitely not seizures. This is a good thing. However what is going on isn’t entirely clear. The doctor says Lily had a growth spurt and it’s been exacerbating her apraxia. Basically what it means is that she’s having dizzy spells and her body has changed so much so quickly that she needs to relearn how to do all the things she was, up until recently, able to do. I know my kid well and I haven’t noticed any major growth spurt. But this is all we’ve got.

The Rett specialist says that this is just a bump in the road. It’s going to take months, and lots of physical therapy, to get her back to where she was 4 short weeks ago.

Right now Lily can’t walk without assistance and when she does walk, she now walks backwards mostly. She’s lost almost 2 pounds.

She has managed a few times in the past few days to emerge from the fog and be her silly Lily self. These moments don’t last nearly long enough. But when they do, my heart soars.

I’m trying to wrap my head around this new TEMPORARY chapter. Lily cannot be left alone for a moment. How do you cook? How do you get ready for work in the morning? I don’t know the answer right now but I’m going to have to figure it out fast. And I will. And this kid is going to get better.