Helping others

When G was born, a mere 15 months ago, we were told there were only 26 kids with a similar deletion as him, and given a medical study describing those kids. We were told his deletion was the largest and we would never find anyone like him. Since then, thanks to the wonders of the internet, we know of 3 other children in the US, ranging from toddlers to teens, with almost the EXACT same deletion as G, give or take a gene. We are so very thankful to have these relationships and be able to learn from them.

In hopes to continue to share knowledge of what these kids experience, we participated in a study on 3q.13 which is a small portion of G’s deletion. It makes up .05 percent of the total DNA in each cell. This study focuses on a deletion of 3q.13.31, which is 5 genes (G is missing 126). The study focuses on 35 people in medical literature and 11 members of Unique, an organization out of the UK we are members of. Oh, and did I mention G is a cover model? Pretty cool!

If you are interested in learning more, you can read the report here:

3q13 deletions and microdeletions FTNW_Unique_12_2013

Because I had to ask the question, I will answer it for you too: G is in group 4 – on the diagram on page 4, his deletion starts at the top of the blue group 4 line and continues on right to the bottom of the dotted line, and beyond.

Anyway, we love reading this stuff and learning more, and hopefully preparing ourselves a little more for what we can expect. Enjoy!

Exciting changes ahead!

Little drummer boy!It’s been a bit stressful around the H house of late, and I am glad to say that after yesterday, Mama C is feeling much better!!

To begin with, G’s nannie has been an immense blessing to our family, and has done a tremendous job with his therapy and all of the improvements he has made! We are so immensely sad to see her go, but Daddy P keeps reminding me we aren’t made of money (what?!), and need to consider other options. We have been looking into daycares for G for a long time now, and found a great school, The Rise School, which has an inclusion model with a goal of half typical kids, and half special needs. They have therapists onsite and incorporated into the daily schedule, and I am most excited about the music therapy he will have every day – he LOVES music!

Without all the nitty gritty details and drama that have gone into setting this date, G will officially be starting January 7.  Yesterday I was able to take him to his new class for an hour, and the things he accomplished in a mere 60 minutes was amazing!! He sat through circle time, played games with both the OT and PT (and apparently he had a blast!), had a snack, and went to music therapy. When I arrived to pick him up, he was banging away on a drum, sitting with his new friends, and taking it all in. I really think he enjoyed the interaction and all of the activities, and even better, the teachers and therapists were thrilled with his level of activity and abilities.

His teacher is amazingly sweet and so excited to have him. She has his picture up in the room already, and has had his folder and cubby ready to go since August. I am glad to know they have been preparing for him and are doing everything they can to make it a good transition.

Part of the drama before now has been apparent hesitations from the Director to take G on as a student, which left Daddy P and I in quite the quandary since they specialize in special needs. Apparently, he is on the far end of the spectrum of needs they have accommodated, and she was concerned about the teachers ability to handle him without a one on one assistant. However, they worked with different seating options for him which worked out great, and following his visit, seem much less concerned and that it would all work out just fine. They even already gave us some ideas of things to work with him at home, including ideas for getting him to drink from a straw, and sensory play (he immediately retracts and gets mad if you touch his hands or try to put something in them).

Overall, it was a great visit and I think everyone is very excited for the transition. As school is over at 2:30, we are still on the search for a nanny to pick him up and bring him home, so prayers that all works out are appreciated. This Type A mama is about to have a panic attack!