The importance of genetic testing and Rett Syndrome…

Posted on November 6, 2015 by mommabear0208

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

The many faces of Lily

Posted on November 4, 2015 by mommabear0208

What’s a girl to do when she wants to be two very different characters for Halloween?

Luckily we had two days of celebrating. So on Friday she was Elsa at the school Halloween parade. And then on Saturday she was Elmo while trick or treating with her cousins in New Jersey.

She was adamant that she wanted to be Elsa, and Elmo for Halloween!

She had so much fun walking up to the doors, showing off her costume and choosing the candy she wanted from the big bowls that were put on display for her.

Mommy is bringing the candy Lily collected from Halloween into the office to share with her colleagues. But fret not dear reader! Mommy isn’t heartless. Lily has plenty of Lily friendly candy (organic dark chocolate peanut butter cups) to keep her happy, courtesy of Grandma and Teetee Angela.

And oh did she love those peanut butter cups! At one point on Saturday, we took a break from trick or treating and helped our cousin Don hand out candy. Well Lily wanted some of her candy and she gobbled it up. About 20 minutes later she got a second wind and we went for a run around the block. She was on a pretty big and happy sugar high. I’ve never seen her run so fast, and for so long!

Halloween is Lily’s favorite holiday. It’s becoming mine too!

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.

Join me on November 2nd in NYC to celebrate our amazing Rett sweeties

Posted on October 8, 2015 by mommabear0208

In my spare time (!), I help raise awareness and funds for Rett Syndrome Research Trust (RSRT), an organization that is near and dear to my heart. Prior to last January, I had never heard of the organization, but since then, they’ve become a crucial part of my life, and my hope for my daughter’s future.

As you all know, Lily was diagnosed early last year with Rett Syndrome. It’s not a high-profile diagnosis, but it is a devastating one. Rett impacts 1 in 10,000 girls and women, and most are wheelchair-bound by the age of 2.

Lily is one of the lucky ones. This year alone, she has lost – and then regained – her ability to swallow and use her hands purposefully. She walks (or runs!), has some hand function, and doesn’t need a feeding tube. She’s also making HUGE progress in her communication skills, with the use of specialized eye gaze technology. I want to thank you for taking part in this journey with me. Your support through this blog – both near and far, is indescribable.

I also don’t know what I would do without her army of therapists and doctors (at last count there were over 25). They have become like family to me, as have my friends at RSRT.

Sleeping peacefully during an EEG yesterday at the hospital.

This organization has made remarkable progress in advancing research on Rett Syndrome. A few years ago, approaches attacking Rett at its genetic root were not possible. Today there is scientific evidence that gene therapy could offer an effective way to treat – or even reverse – the disorder. RSRT is spearheading an ambitious gene therapy project to make this possibility a reality.

But we need your help to continue this scientific momentum and to support more research projects. I hope you can join me this year at the RSRT’s 7^th annual Reverse Rett fundraiser to celebrate our girls and help work towards making their fugures even brighter.

Please click here for details. I hope to see you there! If you can’t make it, please consider making a donation – any amount, small or large, helps us get one step closer to a cure.

Thank you.

The Master

Posted on August 20, 2015 by mommabear0208

While at my yoga retreat this past weekend, I came across the above maxim. It immediately resonated with me. And it got me to thinking….

I recently read an article entitled ‘Pity the Parents of Special Needs Children.’ Almost EVERYTHING written in this article was spot on. But the title? The use of the word pity? Well, that most definitely did not resonate. Empathy, understanding and support – not pity – are what parents of special needs children want.

That article was part one of a series of articles on parenting a child with special needs. Supposedly the second article is to focus on the positive aspects of it. Well, that hasn’t been published yet. I’m impatient. So I’m going to write it. Right here. Right now. Here goes:

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Parenting a special needs child is both heartbreaking and magnificent. There is so much fear, so many doctors appointments, so much bureaucracy. But there is also so much beauty, joy and laughter. I try to focus on the magnificence of it.

This is not an exhaustive list of all of the magical things that come with this role, and I’m hopeful that my friends who are on a similar journey will help me add to the below:

You learn to focus on what’s REALLY important.
I’m completely out of the loop on the latest tv shows, music and fashion trends. I don’t really care. Things I once obsessed over (like Ferragamo shoes!) are secondary, or even tertiary in terms of what I think about on a daily basis. And it saves me money, and time.
You learn to be mindful, and fully present.
Well, most of the time. We’re all human after all. But when you have a child with disabilities, you are so very present – while you’re playing with them, when you’re advocating for them, when you’re at the hospital talking to the doctors, when you’re strapping them in to their equipment. I try to carry this over into my non-mommy time as well. When I’m at work, I focus on work. When I’m doing the dishes, I focus on doing the dishes. And if I start to worry, I bring myself back to the task at hand. I’ve not perfected mindfulness outside of my mommabear role, but I’m getting better at it every day. And I’m becoming a better person because of it.
You recognize that each and every day is full of miracles – small and large.
Or as Albert Einstein so eloquently stated, “There are only two ways to live your life. One is as though nothing is a miracle. The other is as though everything is a miracle.” Every day that my daughter wakes up and gets out of bed and runs to the kitchen patiently waiting for her breakfast – that is a miracle. When she communicates with me through her Tobii – that is a miracle. When she puts her hand out to caress my face and give me kisses – that is a miracle.
You pay attention to your child and help them foster their interests.
Here, in New York City, I often hear about parents putting their kids in a foreign language class or ballet – all at the ripe old age of 2 – to help them get a competitive edge for their future. They’re so busy trying to position their kids for their version of success, that they forget about enjoying their child and learning what their kid is actually interested in. I, and L’s army of therapists celebrate, and encourage, all of the things she shows interest in. Whether it’s planting and growing blue flowers, playing dress-up, or reading her favorite books.
You are much less judgmental.
When I see a kid having a meltdown in the grocery store, I don’t immediately go to ‘that parent is raising a spoiled brat’. I have compassion. Deep compassion. And if it seems appropriate, and I’m able, I offer a helping hand. Because I’ve been there before, and I know what that feels like. Practicing compassion, moving away from a ‘me vs. them’ mentality’ makes us feel better as human beings and makes us feel more connected to others around us. And I think that’s pretty cool.