The boys FINALLY had their orthopedic consult this afternoon. I have been anticipating this day for quite awhile since both of the boys have orthopedic special needs. While we have learned a lot from their x-rays, lab work and various other doctor's appointments and consults, we have always known that this appointment would be the most telling.
I actually found Joshua's portion of the appointment quite fascinating. His defect is very rare and we have all been waiting with bated breath (doctors, nurses and specialists included) to see what his treatment options might be. For those of you less familiar with Joshua's condition, he has been diagnosed with sacral dysgenesis, caudal regression and phocomelia. Both of his femur's are absent and he is missing the tibia of his left leg. His little feet (which are not so little) are perfect. Today we discussed several options for Joshua. The first is to do nothing at all. Now, by nothing at all, we simply mean that we would not pursue surgery or prosthetics. This may not seem like a great option, BUT, Joshua has already proven to us that he can and will do whatever he puts his mind to. He is already crawling (his own version of crawling of course) and can sit completely unsupported. . .when we brought him home almost 3 months ago, he was barely rolling over. While conventional thinking tends to suggest that all people should be up on two legs if at all possible, the truth is, there ARE other methods of mobility and those methods are often preferred over prosthetics for many individuals. The second option, which I don't think we would ever consider, is to amputate his feet and fit him for prosthetics. Before we met Joshua, we had considered this option, but now that we have him home, I simply could not imagine taking his feet. He uses his feet. He LOVES his feet. . . .some babies suck on pacifiers or carry blankies, Joshua plays with his feet (and who could blame him. . they are within arms reach!). The third option, which I found to be bizarre, yet fascinating, is to use his ankle joints as knee joints. This would be achieved by essentially turning the ankle joint around (basically, putting his feet on backwards), straightening the feet to act as his lower legs, and fit him with prosthetics. While we did find this option interesting to say the least, like amputating his feet, it would leave him without the use of his feet and I just don't think we could go that route. Finally, the last (and most probable) option is to fit him with "unconventional" prosthetics (fitted over his feet). There is also an option within this option of lengthening his left leg (which presently barely extends past his hip) to help even out his legs making the use of the prosthetic easier and also giving him the option of walking without prosthetics. At present, this is the option that we are most strongly considering.
Thankfully, our orthopedist feels strongly that, because Joshua is still young and still learning how to use his body, the best thing that we can do for him right now is to allow him more time to develop so that we can get a good picture of what his abilities will be. The entire orthopedic team will see Joshua again in 6 months and will reevaluate our options based on his development at that time. All-in-all, I was very pleased with his orthopedist and our visit.
Evan's appointment was very straightforward. While most of Evan's treatment will come in the form of physical and occupational therapies, there are several surgeries that he will need to undergo in order to achieve mobility. The first surgery will be for his feet which are clubbed. The doctor hopes to be able to straighten his feet by correcting only the soft tissues rather than the "bony structure." This surgery will be followed by several months of casting. Once his feet have healed, the doctor will then try to loosen the contractures in his knees. There is a high recurrence of knee contractures in arthrogryposis, so there is a chance that this surgery may have to be repeated later in life, but, these surgeries will hopefully allow Evan to get up on his feet! We will wait a few months before scheduling the surgery for his feet as we feel that Evan needs a little more time to acclimate to his new life before beginning the next whirlwind of events in his life, but we are glad to have a game plan.
Overall, I was very pleased with the visit and am happy to finally have a glimpse of what our options are!