Participating

Posted on November 9, 2015 by mommabear0208

Lily has had a fantastic few weeks at school. She’s been independently using the Tobii at circle time to interact with the teachers and students. She’s been identifying letters and numbers (through the Tobii). She’s also been speaking independently… saying things like ‘hurry up!’ and ‘hi!’ and ‘Woo back!’. The last phrase is a horseback-riding term her hippotherapists try to get her to say when she is asked to stop the horse. Oh, and Lily has been doing great with using a utencil too to self-feed. Woot-woot!

Keep it up kid!

Using the Tobii to participate during circle time!

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

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.

Yes/No

Posted on May 15, 2015 by mommabear0208

This kid keeps blowing me away!

Last week, I asked L if she wanted to come to the office with mommy and she moved her head up and down. I’d never seen her do that before so I asked her again as I was confused. Again, she moved her head up and down. It eventually set in that she was saying ‘yes!’! Holy cow.

And yesterday I was on the phone with one of L’s therapists at school and she told me that Lily not only loves numbers (which I already knew) but that she can identify them and put them in order. How did they figure this out? In her therapy sessions she has a numbers puzzle and Lily would get really upset any time the therapist would recommend starting with a number that wasn’t zero or one. Talk about another holy cow!

I am so very proud of this sweet, amazing, hard-working, beautiful, determined little girl. So very proud.

Visiting mommy at work

A different kind of report card

Posted on March 31, 2015 by mommabear0208

I just received Lily’s progress report from her amazing after-school therapist Elaine, who is a speech language pathologist and Tobii/PODD expert. Here are a few exerpts from the report:

Lily is a very sweet four-year-old girl who is learning to use an alternative means of communication due to her severe motor planning challenges.
Lily is not able to use speech or her hands as a functional means of communication.
Lily is using a high tech communication device (Tobii I-12 series device + eye gaze access) and a low tech communication book with partner assisted access (PODD communication books).
Lily is starting to develop her underlying communication skills (i.e. joint attention skills, alternating attention skills, eye contact, imitation skills both verbal and physical).
Lily continues to rely primarily on her caregivers anticipation of what she needs but she has been starting to imitate models of how she can request needs independently on her SGD.
Lily’s behaviors have significantly improved. She is much more regulated throughout sessions and does not rely on music as a form of comfort to soothe her when she is upset.
Lily is starting to participate more consistently during session activities and she can sit and attend for longer periods of time, 10-15 minutes without a break.
Through direct observation throughout our sessions Lily has demonstrated the ability to identify objects, discriminate objects from a field of up to 12 symbols per page, identify caregivers, greet “hi”, reject activities “no” , “finish”, request more of an activity, identify animals.
Lily has been able to initiate and carry out her responses to verbal directions much more consistently.
Lily has been able to follow the directions: “Stand”, “Sit”, “Open”, “look at me”, “let’s go to the kitchen”, “take the spoon” and “wave goodbye”.
Lily is currently able to follow verbal directions 3/10 times on average each session.
It is important to note that Lily’s difficulties with carrying out directions are due to motor planning difficulties not because she cannot understand what is being asked of her.