We have food on our faces!

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Hopefully this is the last of the spa treatments for the week, a supposedly nourishing mask of oats, yogurt and honey. You see Lily and I spent the past two days in the hospital as she was finishing up the clinical trial on statins for girls with Rett Syndrome. The results will be published in August and it looks promising for some girls.  Thankfully we didn’t have to do a sleepover for this wrap-up but regardless, driving to and from the Bronx on Thursday and Friday was exhausting enough.

On Thursday she only had one ‘spa treatment’ – the breathing study which consisted of attaching 20 leads to her head, three straps around her torso, and one lead on her piggy. The set up wasn’t too difficult and it went rather smoothly. But then we had to sit there for three hours. I had to make sure Lily didn’t move around too much, or fall asleep. It was physically demanding for us both. We made the most of it – watched a few movies, read a few stories, and I even managed to give her a real spa treatment – a pedicure!

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Afterwards I took her for a celebratory lunch and a stroll at the Bronx Botanical Gardens. Mommy had a glass of wine while Lily socialized with the other diners.

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Friday we were back at the hospital bright and early. Lots of ‘spa treatments’ this day.  She started out with a blood draw. Brave kid didn’t even flinch when the phlebotomist put the needle in. Then we had an hour-long session with Dr. Sasha to talk about Lily’s emerging anxiety, her increased clumsiness, and her ongoing sleep issues. What many people don’t know about Rett Syndrome is that it is continuous and relentless. And my poor sweetie is struggling a lot.

After talking to Dr. Sasha and having Lily do a cognitive test (which thankfully was not at all invasive), we made our way down to the dungeon for the EEG.

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The test itself was only 20 minutes long. But it took over an hour to get all 27 leads on her head. The technician was an amateur. However, Lily was a champ throughout. We were giggling and telling stories and listening to music. I told her I would take her to the zoo afterwards if she wanted. But she was so tired after the EEG that we just made our way home.

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Once we got home, she had a few therapy sessions (she needed help with movement after being sedentary for such long periods of time). We had pizza for dinner. It was pizza Friday after all! However her appetite just wasn’t there. She managed to eat a few bites. Then she took an hour long bath, soaking the hospital visit out of her pores while mommy cleaned –  yet again – the glue out of her hair.

We spent the rest of the evening cuddling in mommy’s bed watching Mary Poppins. It was a struggle to get her to fall asleep (which is unfortunately the norm), but eventually she did and she slept through the night!

When she woke this morning, she had an angry looking rash all over her sweet face. I’m sure it’s all the tape and glue and alcohol and leads that has aggravated her skin. I have to go to the pharmacy later to pick up some calamine lotion because my at-home spa treatment did nothing for her.

And there’s another reason to go to the pharmacy today – I’m picking up her latest sleep medication. Hopefully this one will work. Us girls need our beauty rest, especially after this past week.

A beautiful sight!

 

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It’s official.  Lily loves Christmas.  Well, at least she loves the tree and the decorations.  This is now her favorite spot in the house. It warms my heart to watch her enjoy those twinkly lights.

It’s been a rough few weeks for us over here.  My mom’s not been well (but thankfully she’s on the mend) and Lily had one hell of a stomach bug last week which threw off her sleep in a way that I wasn’t sure either of us would recover from.

We’re both still recovering from it actually.  But she’s back at school and I’m back at the office and we are doing our best to stay awake during the day and ride the sleepless wave at night. And we’re BOTH looking forward to seeing Grandma and the cousins in Florida soon!

Happy Holidays to all you wonderful people.

Love,

C and L

 

 

Understanding cognition in girls and women with Rett Syndrome

In my quest to find an answer for whether or not to do the neuropsych, I came across this recent article.  Here is a relevant excerpt:

It is extremely difficult to evaluate the cognitive abilities of individuals with RTT as these are masked by their motor, apractic and atactic difficulties, which limit normative evaluation. On the other hand, many research projects have suggested that individuals with RTT are able to learn [18-21], and that the learning skills can be enhanced with appropriate motivational factors [18] as well as that learning is sustained after a ‘washout’ period of the learning program has ended [18]. It is also clear today that individuals with RTT can learn new skills [22,23], including literacy [20,21,24], and that learning ability is sustained in individuals with RTT at all ages.
The article is insightful in many levels and the premise is basically that girls and women with Rett Syndrome need intensive and constant therapy/intervention throughout their lifetime to maximize their quality of life.
I’ve seen the positive effects of intensive intervention firsthand.  And there is now some data to demonstrate that Lily is progressing both motorically and cognitively.  For example, her first progress report for the year has come in and it is the FIRST TIME that the teacher at school has indicated that Lily has made significant progress in a few areas.  It is most definitely because she has a Tobii at school now, and that her teachers and therapists are committed to engaging with her through it.

The importance of genetic testing and Rett Syndrome…

I’ve recently been approached by two families who have concerns about their daughter’s development.  And both have asked me to share our journey to an accurate diagnosis.  If you remember, Lily was given two mis-diagnoses along this journey.  So I’ve decided to dedicate a post for families who are on a similar journey.  if you’re new to this site (you found me through middle of the night googling), please feel free to leave a message below and I’ll get back to you if you have any follow up questions.

Q: I am wondering if you could share with me a little more about your journey to an accurate diagnosis, as well as any providers or evaluations that you felt were significantly helpful?

To me, what was the MOST definite and defining moment for Lily was getting the genetic test results with the Rett diagnosis.  Here are the ‘steps’ it took to get there:

Autism diagnosis August 2012

Lily was talking and social and hitting all her milestones and then BAM.  At around 15-16 months, there was a major regression. The language went away, she became super aloof and disinterested and physically started demonstrating some delays as well.  She was initially diagnosed with autism at 18 months (both through Early Intervention and a private developmental pediatrician).

ESES Diagnosis November 2013

Once we started EI services (she was getting 20 hours of ABA, plus Speech, OT and PT), it became apparent that the autism label didn’t fit.  The words started to come back (and then go away – which is still happening).   She came out of her shell and was social and interested in the world around her again.  We then had a bunch of EEG’s done to try and figure out the underlying cause of her regressions and found out she had a rare form of epilepsy called ESES.  And we thought ‘aha! this is what is causing her regressions’.

Rett Syndrome Diagnosis January 2014

But while she was being treated for the ESES (using high doses of steroids that I had to inject into her leg every day which totally sucked for us both), we got the genetic results back (which we did to see if there was an underlying reason for the ESES).  Rett Syndrome was confirmed.  All her doctors (and she has many) were surprised with the results as she didn’t fit the ‘Rett girl’ profile.  She walked, she had some hand function and she wasn’t having seizures (though she does technically have epilepsy and has epileptic episodes which I’ve been told are NOT seizures).

Q: Who did you work with to get the Rett diagnosis?

The geneticist we worked with was Dr. Marion at Montefiore in the Bronx.  And what was especially great about being at Montefiore was that there is a Rett Clinic there (the only one in the tri-state area, led by Dr. Sasha Djukic) so we were already in the Montefiore system.  It also helped in terms of scheduling doctors appointments as the Rett clinic is open on Fridays and we now just go there once a year and see anywhere from 2 to 5 specialists in a day instead of going back and forth to the hospital to see all the different doctors.
Q: Where are you today?
A Rett diagnosis sucks.  But you learn to live with it.  And knowledge is most definitely power.  I know what I’m dealing with and I can better prepare myself and my child for the road ahead.  And by the way, it’s mostly a happy road we walk.
Q: Is she on a special diet?
Lily has been following the GAPS diet for the past two+ years (though she has pizza on Fridays at school) and is on the growth charts which I believe is because of the healthy foods and supplements she takes (many girls with Rett start to fall off the growth charts by the age of two).  She sees a nutritionist regularly.
Q: What types of therapies does she receive?
She goes to a private special needs preschool where she receives numerous therapies, and has an augmentive communication/speech generating device that she navigates with her eyes (think Stephen Hawkins).  It is called a Tobii.  Actually she has two Tobii’s – one at home (which we own and were able to procure through the EI program) and one at school (which took a year of advocating through the DOE CPSE program).
Here are the services she receives through the DOE, on a weekly basis:
At school:
  • 1:1 para professional for health and safety reasons (this is imperative: our girls cannot self defend)
  • 5×30 Speech Therapy
  • 4×30 Occupational Therapy
  • 4×30 Physical Therapy
At home (she has a ‘dual recommendation’, sometimes called an RSA, and is supposedly impossible to get through the DOE):
  • 6×60 SEIT (Special Education Itinerant Teacher)
  • 3×45 Speech
  • 3×45 OT
  • 1×45 PT
  • 4×60 Assistive technology services (so that the home speech therapist can program both Tobii’s and upload course curriculum to them so Lily can follow along in class and participate).
On the weekends she goes horseback riding through the GallopNYC program and is loving it.
Yes.  It is a lot of therapies.  And yes.  It was not an easy decision to put her in to all of these therapies.  But the proof is in the pudding:  My kid is thriving.
We live a mostly happy, and always busy life.  Yes.  It is possible.
Happy Girls, Halloween 2015

Happy Girls, Halloween 2015

Our Favorite Season

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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

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'

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

Brave

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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

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

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

 

Rett Syndrome: One year in…

I wasn’t sure what I was going to write today.  Maybe about what I’ve learned in this past year, how I’ve grown, how Lily’s grown.  I didn’t know.  But thankfully, this morning I received a beautiful email from my cousin (who also happens to be the first person I shared Lily’s Rett diagnosis with, which was exactly one year ago today) so I will share what she wrote:

I think and pray for you and Lily just about every day and am thankful for your insightful and honest blog entries. I have been thinking of you this morning as I know it is the anniversary of Lily’s diagnosis and the day your life was turned upside down. Congratulations on making it through this insanely difficult year!! I can’t even believe what you have accomplished in just 12 months since that day…becoming an expert on this very complicated disease, mobilizing outstanding resources for Lily, moving in NYC, searching and enrolling in a new amazing preschool, custody battle victories, fundraising, advocacy for Rett and even a battle against rude and obnoxious honkers.. and the list goes on… Remember how stressed you were a year ago about all these things.. hallelulia! they are behind you.
When I received this email last week from Rettsyndrome.org, it gave me much hope and excitement that a cure is possible and close! I had heard about these results but for some reason it really hit me when I read this and heard about the energy and money going into further research on this drug.
I made a donation today to this research fund to honor Lily and her mother 🙂 and recognize the anniversary of her diagnosis as well as her 4th birthday! I donated $123.14 – a dollar amount that reflects the date of her diagnosis.
Although I am sure in many ways, this is a difficult day for you, I am writing to remind you to pause today and recognize your amazing accomplishments this year!! And thank the good Lord that this year is OVER!! Onto year 2… good things are to come!
My cousin is a private person so I won’t call her out publicly here.  But wow, thank you beautiful cousin of mine – for being a source of inspiration, knowledge, unwavering support, and  for writing the words I needed to hear today.  I hope you don’t mind me sharing this…
Love,
C and L