These past few weeks have been filled with specialist appointments. We saw ortho a few times (seeing her again on the 15th, and who knows how often after that), Grace had her MRI under anesthesia, her annual ophthalmology appointment was last week, she sees GI again on Monday, and we saw a new doctor yesterday.

The new doctor works in the Inherited Metabolic Disorders clinic at Children’s Hospital. We used to see a different doc in the clinic. She was great. She had an MD and a Ph.D., so I affectionately thought of her as “Doctor Doctor.” Unfortunately, though, she moved out of state in 2014, and we haven’t been back to the clinic since, until yesterday. The last time we saw Doctor Doctor, we had exhausted her knowledge. She told us at that appointment that she had nothing more to offer us. It seemed pointless to make a new appointment with a new doctor and have to start all over again, if the extremely cerebral Doctor Doctor couldn’t think of anything.

Dr. McC, the ophthalmologist, had been urging us to return to metabolics for a while. She spoke to one of the docs and explained our situation and he agreed to provide continued care to Grace, should we ever want it. It seemed like a waste of time to me, though, to have to try again with an unknown doc at the hospital where we have had so many bad care experiences.

That all changed when we got Grace’s diagnosis earlier this summer. Suddenly, I needed the advice of a geneticist. I needed to know whether it truly was an autosomal recessive condition that would make every subsequent pregnancy risky, since we’ve been not trying not to get pregnant for several months. I called and took the metabolic doc’s first available appointment, which at the time was six weeks out.

Despite my trepidation, the appointment was not a total waste. We got there right on time and were quickly ushered into the little room where we would see the doctor. It did not take too long for the first doc to come in—or should I say, the first two docs. There was a geneticist and a psychiatrist. (Not sure why the latter was there, but he was very nice.) The geneticist had not realized that we had gotten a diagnosis. (There is poor communication at that hospital, which is one of the things we have had trouble with in the past. The intern doesn’t communicate with the resident, the resident doesn’t communicate with the attending, the attending doesn’t communicate with anyone, and it’s all a big mess.) We spent quite a while with the geneticist, going over all of the aspects of Gracie’s care. Grace was very good through it all, mostly just playing with the toys I brought for her and listening to our conversation.

One of the things I learned from the geneticist was that each pregnancy has a one-in-four chance of producing an affected child. I knew this already, but needed to have it confirmed by a doctor. We will not try for more kids—a child’s health is not something to gamble on. I also learned that Gracie’s particular mutations have never before been reported. That explains why she is so unique. She is unlike even the other people with the PCARP diagnosis, and perhaps it can all be explained by her specific mutations. I learned that they are unsure what metabolic process causes the genetic mutations to manifest the way they do, but perhaps it has to do with heme transport. Interesting. The geneticist eagerly agreed to contact the doctor at the University of Washington who is researching this condition. Finally, there is a doctor interested in contacting the research physician!

The last thing the geneticist discussed was gene therapy. He noted that if the researcher is studying a group of people affected with PCARP, perhaps they will discover the cellular mechanism that causes the phenotype (presentation of symptoms), and then they can work on treatment options. He agreed that if we can find a way to give Grace her sight back, it would really enhance her quality of life. He also agreed, thankfully, that it is not in her best interest to restore her ability to feel pain. She has done so much damage to her body that she would hurt all the time if she could feel it, which he understood. He was a good doctor and a nice person, too. When he left the room after over an hour, he remarked that the other doctor would be in shortly.

It was about an hour and a half later that the other doctor finally entered the room. By that time, Gracie was DONE. She was hungry and thirsty and had eaten all her snacks and drank her water, she had played enough with her toys, and even watching videos on my phone had gotten old. She was ready to go. I was feeling stressed, too. Even though I had my computer and had been working during the wait, I was feeling the pressure to get back to the office. We only spent a few minutes with the metabolic physician. He remarked that no one at Children’s Hospital has ever seen anything like this. He confirmed that there would be a 25% chance with each pregnancy of having another affected child, but urged us not to worry about getting pregnant because they could do pre-implantation genetic testing to discover whether the fetus was affected. I laughed and told him, “I’m 38, we already have two kids, and we wouldn’t terminate a pregnancy. We’ll just try not to get pregnant.” Gracie didn’t like to hear this—she started crying when I said we wouldn’t have any other kids. She so wants a baby to nurture; it stings that I cannot give that to her.

The metabolic physician had nothing else to say, so through Gracie’s cries I packed our things and loaded her into the stroller and hustled out of there. We did all the things I had bribed her with to ensure continued good behavior—we rode the glass elevator up and down, we saw the Lego hospital, we looked at the cool perpetual motion machine with the balls and toys, and we visited the cafeteria for popcorn. She earned her rewards; that was a very long appointment.

Although going in I did not have any hope for a good appointment, all in all it was not bad. The geneticist was very nice and very personable. We will learn more about the condition and what to expect for Gracie’s future after he contacts the researcher. We know that procreating is a bad idea at this point. And we know that Gracie is truly one of a kind—she is one of only a couple people in the entire world with that diagnosis, and the only one with her particular mutations. She’s amazingly unique.

And just plain amazing.

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