A few weeks after Nicholas was born we took him to see an orthopedic specialist at NYU and the x-rays began. Nicholas hated them when he was a baby because he hated being held down (not an uncommon feeling among babies I am sure). Currently he chats it up with the techs and wants to know how everything works. Nicholas always smiles when they say “ready” as if they were saying “cheese” . He knows it is only going to be his leg in the x-ray. He just cant help but smile. Now as a baby it was the WORST part of any appointment and it felt like they took forever. I could not go into the room with my boy because I was nursing so I cried listening to him cry. I tried not to and tried to hide it but anyone who knows me knows I really can’t hide my feelings. I cried at a lot of appointments.
After the films were ready and we were back in the exam room we waited for the NYU, all our hopes are hanging on you doctor, to say something. Instead he took out his prescription pad and wrote very slowly (I suppose that is why it was legible) FIBULA HEMIMELIA. This meant nothing to us at the time because neither my husband nor I had heard of it. Of course now I could write a book on fh… or maybe a blog. And now I realize that he spelled it wrong (also not uncommon). I think he spelled it the way he said it, with his classic New York accent he dropped the “R”.
In the next few minutes he explained that Nicholas had no fibula, the smaller of the two bones in the lower portion of his leg and that his tibia was bowed and shortened. Of course his ankle was not formed correctly because the deformity effects the entire limb. Much of this was self evident. Next ,NYU our hopes are now fading doc, told us amputation was the standard treatment and that nine out of ten doctors would suggest this for Nicholas. With amputation he could run track and be an athlete (as if I cared about him running track in this moment. I just wanted my boy to be able to walk). There was another option, limb lengthening and reconstruction which would be at least three long and pain full surgeries and three external fixators. Looking at his foot he explained that what looked like two toes was actually three. Two were syndactaly. Normally he said, with only two toes amputation would be the clear choice but with Nicholas it was hard to say since two were together. This baffled me. Deciding the fate of his whole leg based solely on his number of toes. According to him the big toe and two together equaled 2.5 toes. He told us there was no wrong or right choice. We could take some time to decide what was best for our son and our family. But if we were to choose amputation it would need to be done before Nicholas was eighteen months old to avoid psychological complications and phantom limb pain. We were nearing information overload.
Hearing this diagnosis was one of the hardest moments of my life and I am sure my husband would say the same. Hearing about the options and the choice we would have to make left us shell shocked. I knew from the start that Nicholas would need some kind of surgery. I didn’t think it would be multiple surgeries throughout his childhood or one surgery to remove his leg. NYU doc was confident that everyone else he could refer us to would say amputate. There was however, one doctor in Baltimore, he was well known for limb lengthening advancements and for being “a bit of a cowboy”. But he would be worth seeing. So with Nicholas’ prescription pad diagnosis we went home, made an appointment with the cowboy and then I got to googling.