It Was What It Was

It is good to know that despite the twisting in our stomachs, the feeling of preparing medical history for an evidential hearing, and the home cleaning spree “just in case” we don’t get to come home… despite all that every time we take Connor to another doctor appointment, it appears we have finally moved past the crooked glances and into the realm of medical attention. Or at least medical “consideration.” Of course, it still isn’t everything we wish it was, but it is what it is and that’s better than what it was.

The problem with having a little understood “main” condition, such as CIP, is that the inexperienced are quick to explain everything else as being a direct result. That may be the case. But unless they are specialists in said disorder, our concerns are not something we are quick to dismiss without being sure every possible avenue has been explored. It was our concerns that we had to fight to get recognized and diagnosed in the first place, and we would be doing him a disservice if we didn’t do the same for every other concern that arises.

Today was a “big one” for us. We have been waiting to meet with a relatively renowned metabolic specialist and his team (included Genetics and Orthopedics) for several months now, to see if we could identify any reason Connor has these ongoing vitamin deficiencies and anemia, not to mention a relatively high rate of fracture. Even though most of the recent ones are small, because of the way his body heals even the most micro fracture will cause a large growth of bone. And since most are in his feet and ankles, it is getting darn difficult to find shoes that fit because his feet/heels/ankles are getting so big and lumpy. We had some blood drawn recently that indicated he is still anemic/iron deficient (despite months and months of supplementation), and his Vitamin D dropped a HUGE amount. No matter how much we give him, he can’t seem to hang onto it. Seems worth looking into to me…

After much discussion, the specialist was happy to send us on our way and said that everything was probably just because of the CIP. Over the past several months, we have heard (more times than I can count) that “children that don’t feel pain do not have any more fractures than people that can.” I am not sure where they get that information (or whether or not is correct) but when faced with Connor’s case, they still immediately point to CIP as the culprit without question. OH! He also suggested maybe the other families weren’t catching the injuries as often as we do. Yeah… try telling that to a room full of parents to children like Connor and see what happens! We check our kids head to toe a bazillion times a day.

Well, nice try, but that’s not going to fly. Appointments can take up to a year to get and they had not even reviewed the last 7 months worth of Connor’s blood tests and xrays so no way were we going to walk out of that office without any forward motion. I requested they at least do a panel of blood tests designed to look at overall bone health, and he agreed. If it is normal, well, okay then! Thank you… that is fantastic news, and we know for sure. But how can you know if you don’t look!? And how can you decide it’s not worth looking into when you haven’t reviewed a stitch of medical history since 7 months ago!

The results may take up to two weeks,  but I am happy to take a deep breath and patiently wait. I feel like something was accomplished and I am reasonably satisfied that we may have a better picture as to what is (or isn’t) going on when it is said and done, even if it just was what it was.

On a lighter note, I received some GREAT news today that may make a giant leap in our journey to identifying the specific gene responsible for Connor’s insensitivity to pain. That Florida research group I mentioned in my last post? My mother offered to send us there!!! So if they are still interested in adding him to their study, we will be on the plane! Woo hoo! I know it may seem like such a little thing, knowing which gene is the culprit, but having the “why” behind the “now” and being a part of something bigger that can aide in research and maybe even treatment down the road would be just awesome.  Here is a link to a press article recently published about their work.

Other than all that, Connor continues to be doing well! He has been on the gluten-free diet for almost a week and so far, so good. No biting for a month (aside from his hand a couple times, but NO BLOOD!)… We can hardly believe it! Sleep has been on the upswing this last week (fingers crossed). These days it seems we are just doing the typical, “I have a very active boy” damage control.  I still haven’t taken the 18 month pics, but I hope to do it soon. When I do, I’ll do a post JUST about his cuteness. 🙂