Start with the why…answers at last

There were a couple of months between our follow-up conversation with Mayo and our regularly scheduled Neurology and Genetic appointments at the University of Michigan.  We continued on with Camden’s twice a week Speech and Occupational Therapy, once a week Physical Therapy and ECCS Preschool (4 days a week).

In early January we were back up on floor 6, reception C waiting to see Dr. Neil in Neurology.  Craig was unable to make that appointment so I had my brother tag along with me.  We try to always have two people at the appointments just to make sure we hear and process the information fully.  Nothing much came of this appointment other than that Camden remains a mystery.  She did refer us back for a second round of autism testing, which we still have not completed.  I’ll get more into that on a later post.

Towards the end of January we again found ourselves on floor 6, reception C but this time it was to see Dr. Innis, Camden’s Geneticist.  The genetic counselor came in and reviewed Camden’s genetic test that we had completed a year and a half prior.  We had gone over the results on the phone back then but he went through it again, since this was the first time we had seen them in person since the results came in.  He left the room and after a lengthy wait Dr. Innis came in and asked how I felt about research.  On this day, I was the only one at the appointment with Camden.  I said that I felt great about research and that if we could help someone 5, 10, 50, 100 years from now it would be well worth it.  How great that we could be on the cutting edge of finding answers for people in the future.  They had me complete consents and explained that the HIST1H1E gene was of interest to them.  He wanted to reach out to find other people with this gene, find similar characteristics and publish a paper.  I asked him at this appointment if he thought genetics were what were causing Camden’s delays, he replied ‘100%”.  He took some pictures of Camden, with permission, to utilize in his paper and off we went, signed consent form in hand.

Fast forward to about a month ago…

I was on this very site, WordPress, discovering the functionality and I decided to search several different topics.  I got reading other blogs and publications that were a result of different searches I put in.  I decided to search the HIST1H1E gene and this is what appeared, one of my posts and one other:

I feverishly read through the article that was contained in the search results.  I couldn’t get through it fast enough.  Looking back on it, it was like something you see in a movie, with excitement building and my eyes moving a mile a minute.  I then went to google and typed in ‘HIST1H1E’ just like I had many times before, but the most recent time being last summer.  The search returned more options than I thought possible.  We were on to something.  I read through Dr. Tatton-Brown’s research publication and couldn’t believe my eyes when I was reading through the characteristics.  THIS WAS CAMDEN!  I stumbled upon a facebook group involving the HIST1H1E gene.  Facebook?  I couldn’t believe it, this was all just under my nose for how long?  Well it turns out it hadn’t been very long at all.  I read through the few stories on the facebook group and viewed their pictures.  I was certain that this is what Camden had.  I called my Mom, Craig and a couple of friends (none of which were available at the time), I just couldn’t believe it.

I hopped right on the U of M portal to email Dr. Innis to run it by him as well.

Dr. Innis replied back a few hours later and confirmed that he did in fact have this gene and that this was the cause of Camden’s delays.

So there we have it, after three and a half years and through a Mothers persistence, we have found the cause of Camden’s delays.  There currently is not a name for this genetic finding, as of today they are simply calling it HIST1H1E.  There is so much more to learn about this gene and the common characteristics of those that carry it (more on that in a future post).  They are categorizing it as an ‘overgrowth’ syndrome.  Some children have larger heads, are taller or larger than children their age; they have a higher hairline, prominent cheeks, and many other characteristics that make them perfect and unique.  There are fewer than 20 cases known; you think your child is one in a million….we’ve got you beat 😉  As you can imagine, Camden will not be limited by a diagnosis, this is just the beginning for us.  I have learned through my sales career to ‘start with the why’; well…we have our ‘why’, and this is one happy Mama.

Until Next Time,

3 C’s and a K