It’s been awhile. Sorry for the gap between posts – I know many of you who read this blog are praying diligently for Wolf and the rest of our family, and we really want to keep you abreast of the situation as much as possible. Sometimes, though, life gets busy. And when you have three children younger than 5, “sometimes” = “almost all the time.” There’s my excuse, take it or leave it.
But since we’re here, let’s have some news on our young Master Wyatt, shall we? I am pleased to report that the news is good! We have visited with geneticists three times since the last post, and the meetings have gone well. I’ll break down each of the three meetings:
We visited the local Kaiser geneticist who we’ve been seeing and she went through Wyatt’s diagnosis with us. The reason he has OI is because one amino acid mutated from adenine to guanine sometime during development. That’s it. In the millions (billions?) of different building blocks of Wolf’s DNA, one thing went wrong and caused this whole chain of events. Pretty crazy to think about, isn’t it? On the one hand, it highlights just how fragile the balance can be when just one slight change can result in something like OI. On the other hand, it reinforces the notion that God’s design (and the execution of that design) is incredible.
The doctor told us something else that amazed me: of all the blood tested by this lab (and this isn’t strictly a Kaiser lab; I got the impression that this lab is where you send blood to be tested if there is any question about OI), they have only seen this particular mutation 11 times. I’m an accountant, so forgive me for doing a little math here, but according to most sources, about one in every 10,000 people is affected by OI. There are 300,000,000 people in the U.S., which leaves us with about 30,000 people in the country with OI. I have no idea how many of those were tested by this particular lab, but let’s say 11,000, just for round numbers’ sake. Assuming these numbers are representative, that leaves us with this: Wolf not only had a .01% chance to get OI, but had a .1% chance among all OI patients to get this specific mutation. Doing the multiplication leaves us with this: any baby being born has a .00001% chance to get the same thing Wyatt has.
I don’t say all that to garner sympathy or to complain about how unlucky we are. Really I’m just fascinated by it. That’s insane! Anyway, enough with the numbers. The nice thing about having only 11 documented cases of this mutation is that the doctor was able to go through a brief description of each case, as far as it was known (a lot of the time, the lab didn’t have detailed facts on the patient whose blood was sent for testing, so not all the cases had a lot of information available). The descriptions were promising. All the children and adults could walk. Some walked later than average (I remember one was at 18 months), but at least they could walk eventually. One of the adults who had the mutation lived a normal life and only found out he had it because he took his child in to be tested and they tested him as well. (Fun fact: This man swam the English Channel!) Common among this mutation were prenatally bowed femurs similar to Wolf’s. Other symptoms, such as dentiogenesis imperfecta (weak teeth), blue sclera, fracture frequency, etc. varied from case to case, but all in all, the symptoms never seemed to be worse than moderate. Based on this very small sample size of affected individuals, Wolf has a great chance at living like a regular boy who does regular boy stuff (but who might just have to skip out on bounce house wrestling). This is very encouraging.
The downside is that the mutation is on a dominant gene, which means that Wolf will have a 50% chance of passing this along to any of his children (you can break out your Punnett Squares if you want to see how that works). Julia and I are having our blood tested to see if there’s any chance we passed this along to Wyatt, but that’s a pretty remote possibility, given our above average height and neither of us having ever broken a bone. But that prospect is at least 20 years down the road, and who knows what medical advances will occur between now and then? Overall the meeting was positive. We got some questions answered, we learned some new things, and above all, we found out that our boy has a good outlook. We also planned to start treatment, but I’ll discuss that further in…
This time we got to meet with another geneticist, one who had a good amount of experience examining and treating OI patients. He was up from San Diego and took the time to speak to us about treatment options, which we appreciated. His take was a bit surprising.
As soon as we were sure that Wolf had OI, we assumed that we would start him on Pamidronate. We had heard so many positive things about its effects, and there weren’t any significant risks as far as we could tell. The doctor talked about the details of how Pam works, how treatment would be administered, etc., but he was of the opinion that we might not want to start it yet. The reason we should consider holding off is that Wolf is doing so well. He told us that the last x-rays showed less bowing than the x-rays he had taken at birth, which indicates his legs are straightening out on their own. He did have the one fracture, but he hasn’t had any more, which is a good sign. Moreover, the one fracture he had is suspected to have been caused by the angle of the bent femur; therefore, if the femur is straightening, we would expect to see less fractures there anyway.
Overall, he liked the way Wyatt’s skeleton was growing, and expressed some concern that Pam, while definitely strengthening the bones, may actually hinder the bones from growing straighter. He told us that there was evidence both ways – some children on Pam had bones that grew straighter while others didn’t show that same tendency. But seeing Wolf’s improvement thus far, and given his still young age (he only turned 2 months a week ago), he thought it might be prudent to wait and see what happens. While the treatment doesn’t pose any significant long-term risks, it would be given via IV over a three-day period, and that would not be a comfortable time for Wyatt, or the rest of us for that matter. If improvement stops or fractures increase sometime over the next few months (or years), we can start the treatment then. This meeting was encouraging to us, as the doctor praised us for the things we were doing to keep Wyatt healthy. It was good to hear that from a well-respected doctor.
This was a pretty informal meeting. Basically, the geneticist we saw in meeting number 1 has been the doctor we’ve been seeing regularly since before Wolf was even born. However, she has told us she’ll be retiring sometime in the next few years, and she wants us to have some continuity in the geneticist we’re seeing for Wyatt’s treatment. So we met with another geneticist who will, from this point forward, be the main doctor to manage Wyatt’s care.
We had actually met this doctor once before – in the hospital about a day after Wyatt was born. That first meeting did not go well. He came into the room, introduced himself, and asked if he could take pictures for a meeting. Then he started moving Wyatt around, and rolling him on his side, and asking us to stretch out his legs. We were horrified! At this point, we had no idea how fragile or sturdy our baby was, so we were nervous even holding him. And here comes this guy, tossing him around like a football, taking pictures at his leisure! We quickly shooed him off and told him that we would move Wyatt if he needed to be moved (although we made it very clear by our angry glares that we did not think Wyatt should be moved at all).
This meeting went much better. The man was very nice, and even apologized for his unexpected hospital visit. Julia and I are comfortable that he’ll take good care of Wolf in the years to come.
So the plan has changed a little bit. We were set on starting Pamidronate as soon as possible, but with the good news about Wolf’s improvement, we’re putting that on hold for the time being. We do have an appointment with Shriner’s Hospital on June 4th, and they are considered to be experts at these kinds of conditions. So we’ll see what they say and weigh our options after that visit. All in all though, things are going well. Wyatt is growing (his weight and length are tracking nicely on the growth curve), he seems to be developing his motor skills, and we’re starting to give him some tummy time to increase his muscles. Thank you again for all your prayer! And thanks for reading this novel of a post. This is what happens when you skip three weeks of posting. But as a reward, here are some cute pictures of Wolf and the family from the last month or so. Enjoy!