UNC Infant Study

So, the second part of our trip down south.  You can read about the beginning of our trip in USC Infant Study post.

After we finished in Columbia, we got in the car and headed north.  Our final destination was UNC, but we stopped in Charlotte to visit with some friends of mine. These ladies are part of a small group of women that met when we were all pregnant back in 2006/2007.  I'd never actually met them before, but it was just like catching up with old friends.  It was unfortunate that our little 5 year olds couldn't all be there as well, but so wonderful to finally meet both of them in person.  Even so, I had a wonderful time eating oreos, drinking margarita punch, and just talking. It's hard to think we can't just make plans and go out for a girls night sometime, not just with these two but all the women in our group!  Hopefully when we return next year for Emma's 24th month visit we'll be able to get together again but with the kids.

We left Charlotte and headed into Durham/Chapel Hill before dark on Sunday.  It was neat to be driving into Chapel Hill and start recognizing the area from when we were there in August.  East Lansing has a special place with me and is wonderful to live, but if we ever had to leave this would certainly be a city I wouldn't living in.  The atmosphere and people are much like home and part of why I fell in love with East Lansing --friendly, smiling, overall just happy, and comforting.  Plus the area is beautiful!

We settled into the hotel just fine, and just as in August had amazing service.  Emma didn't want to sleep with any light or noise so I spent the evening in the bathroom on my laptop.  She slept at least, but it wasn't very comfortable!  On Monday morning we headed to our first stop of the day.  I keep in touch with one of the people on the team on Facebook and she was the person doing the evaluations.  It was awesome to see her again!  The evaluations did not go as easily as they did in Columbia.  I think just all the travel was wearing on Emma finally and she was very ready to be done.  We headed out of the evaluations directly to the MRI.  Thankfully she was so sleepy she went right down and slept through most of the MRI. We ended up not finishing completely this time, but they got through enough for the study.

I've posted before about this study, but to read a little more on some of the results they are seeing, you can see the latest news on Delayed Gaze Shifting an Early Marker for Autism.

Our flight wasn't supposed to leave until 5:45pm the next day.  With the help of the group at UNC though we did end up changing to an earlier flight.  I was SO thankful we had too, because a nice storm of ice/snow was getting pretty bad as we came into town - 4 hours earlier than expected.  Our flight from Detroit wouldn't have made it until much after 11pm if we would have stayed with our original flight (which I know because that is where my luggage ended up)  so it definitely worked out.

Also..since I am such a procrastinator, I have the results back from her testing.  The behavioral assessment that was completed at UNC (Mullins) came back with all test scores in the normal range.  Even though her receptive language appears low with a monthly value, it is still in the normal range.

Fine Motor: 15 Months
Gross Motor: 13 Months
Visual Reception: 12 Months
Receptive Language: 11 Months
Expressive Language: 12 Months

The adaptive behavior assessment was done at USC (Vineland) and also came back with all scores in the normal range.  This refers to basically how she meets her daily needs.  Her standard scores were from 100-110 in all areas (communication, daily living, socialization, and motor skills).  "Normal" or "Adequate" score is between 85-115.

Overall, very good results.  She is continuing to develop normally and I continue to question each time she falls a little outside a "normal" developmental milestone.  It's a good combination!

And because I don't have a great picture from our time away...here's a nice video to show Emma's new favorite thing -- animal noises.

If you have an infant or know someone with an infant with a premutation or full mutation of Fragile X OR has an older sibling with Autism, please consider being part of this study.  It's very difficult to find children that young to participate and the amount that is gained for helping others is so vast.  Even if you just want more information, I can put you in contact with the study and/or give you more in-depth at what we did, arrangements etc.  

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The Moment

I have this moment that I remember very clearly from when Ayden was an infant...  We were helping my younger sister move from her apartment, and I had offered to take my niece (my older sister's daughter) overnight.  Her and Ayden are about five weeks apart.  So I'm sitting there in this apartment filled with boxes while the guys are packing up and playing with my niece and Ayden when I clapped and said "yay!" for something she did and she looked at me and clapped right back.  It wasn't something new for her, but it was the first time I had seen it.  It was in that moment that I remember clearly knowing that all those little things I had worried about the past few months with Ayden were a problem.  The moment I was sure something was wrong despite the fact I kept being told his development was normal by doctors, friends, and family.  I waited another year and a half from that point until Ayden clapped the first time.  So, I'm a little...sensitive....to the whole clapping issue.

I started trying to get Issac to clap when he was just three months old.  He finally did it around six or seven months and I breathed a huge sigh of relief.   I still remember the exact moment he did it.  I started crying and he just looked at me, then he started to cry too - which of course made me laugh.  I'm sure he'll love this story when he's older.

Then there is Miss Emma... as with Issac, I started working on clapping with Emma very early knowing with Fragile X we were looking at the possibility of some large hurdles in the fine motor skills area.  When she was around six months old, I received a video of one of my good friend's daughter (who is just a week or so older than Emma) clapping away.  I think my heart broke into about a million pieces when I watched it.  It was that surreal feeling of being so incredibly happy for your friend and so devastated for yourself at the same time.  I just struggle with this diagnosis so much still, and the fact that Emma is developing normally thus far is amazing but I am still waiting for delays with each milestone.  I'm so afraid to be excited and enjoy this time because if we do start seeing delays it will be like she is being diagnosed all over again.  There are parts of this life with Fragile X that are not easy and can easily consume - and this is one of them for me.

But despite my ramblings of my crazy issues with clapping, this story is not one with a sad ending.  On Christmas Eve Emma decided that she would clap for us.  She was just sitting there and got excited and clapped like she had been doing it forever.  Two tiny hands, helping to heal a wound on my heart from long ago and one Christmas made just a little bit brighter.

Edited:  Added a short video, it's about all I can get her to do when I'm recording!

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Fragile X Infant Study / NC Trip

In late August, we packed up the family and headed down to North Carolina - UNC specifically - for Emma to participate in the first part of a longitudinal research study for infants with Fragile X. (More on the travelling in a bit!)   She will have visits at 6 months, 12 months, and 24 months where she will undergo an MRI and developmental assessment.  The MRI takes place while sleeping, and the developmental assessment is very straightforward - especially for those of us that have gone through them for older siblings before!  Emma did fantastic with the MRI which was the only portion I was worried about at all.  Those machines are loud, and sleeping through them seemed near impossible; however, she made it through the entire MRI only waking up one time and going back to sleep fairly quickly.

We haven't received all the information back from the developmental assessment, but the summary looks very good.  Emma is where she needs to be in all areas developmentally.  At 6 months old, this is a huge relief.  I don't remember seeing delays with Ayden until around 7-8 months, so hopefully the next few months will keep her on track as well.  I still have a couple areas that are a concern to me even with her testing coming out fine.  I am praying those areas continue to progress though and the difference I see are just due to different kids developing differently.

As for the study, you can learn more about it here if you are interested.  If you are a Fragile X carrier and either expecting or have an infant under 6 months with Fragile X you really should look into this study.

Now, back to the travelling.  When I say we packed up the family I mean we packed them up, drove to Detroit, and then flew to North Carolina.  On a plane.  To say we were a bit nervous about flying with a 5 year old, 3 year old, and 6 month old might be an understatement.  Especially with Ayden.  We did our best to explain what would happen, trying not to explain too far in advance, and then hoped for the best.  As usual, my children never cease to amaze me.  After getting up early, riding almost two hours to the airport, riding in a shuttle, fighting crowds, and going through security -- ALL of the kids were meltdown-free through the entire flight.  Ayden was most excited when we took off.   Both him and Issac were just staring out the window.  After that, it was just like a car ride to them.  We landed with just as much ease, hauled them through another airport and into the rental van then finally to the hotel.  By this time it was far past lunch time.  We grabbed a bite to eat and then took a nap before heading to dinner out and Emma's MRI.   Our first day of travel, which is exhausting to me again just typing it - had us returning to our hotel around 11pm where all of us crashed. But we were meltdown free the entire day!

The next two days were not nearly as good - but for as much as we pushed the kids I couldn't really ask for much more than they gave.  Ayden especially did such an amazing job trying to be good and not whine.  I watched him teeter on the edge of meltdown a few times and bring himself back.  We did have a fantastic time, but it was infinitely exhausting.

The highlights of the trip were definitely meeting the wonderful team at UNC working on the study (I won't name their names here...but there are only two of them!) and how amazing everyone was that we encountered while travelling.  I can't even count the number of times we were told how polite and well-behaved our kids were.  One couple even told us we made travelling with three kids look easy (HA!).  It wasn't just the positive comments either - friendly faces, smiling, being polite.  We honestly never had one person shoot us a dirty look or look at us like we were inconviencing them.

All in all, it was a very successful trip - for a very good cause.

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