Day 3 / Undiagnosed Diseases Program

We are now on day 3 of our NIH visit with the undiagnosed diseases program. The morning started a little later with our first appointment at 10:00 am, so Lorna and I were able to enjoy breakfast at the Children’s Inn. We went to the Clinical Center early, which by the way is across the street, so that I could get food vouchers. It was a rather large amount of money that was given to me, which was great for the end of the day, I will get to that.

So our first appointment was with the physiatrist, he examined Lorna and said that she is doing physically well other than tight hamstrings and one side of her pelvis is higher than the other. So he brought in another person to get her fitted for some orthotics, I think it ended up being ¾ of and insert. The orthotics will also help with her over pronation in her ankles. It was suggested that we take the metro to the shoe store to get some new shoes for the orthotics. We then had a consult with a physical therapist who also said the same things; she gave us some different exercises that Lorna can do herself to help with those tight hamstrings. They said that if we don’t get those looser she will likely get back pain in the near future. We were done with this at about 11:30 am but needed to be back at 1:00 pm to get the orthotics.

In between that time we were able to order lunch at our room, we were also met there by the nurse practitioner and the neonatologist. They wanted to discuss more about Lorna’s constipation to see if we needed to add a GI consult. We did end up deciding to do get one.

At 2:00 pm we headed to radiology to have ultrasounds done. They did and ultrasound of many things inside her such as; kidneys, liver, and spleen. I didn’t hear what they found or how things look so I’m sure that will come up soon. We then went back to the room.

Just before 3:30 pm the genetic counselor brought in a geneticist from the local Children’s Hospital, just to get a few more eyes to look at Lorna. We had some great discussions. We were then to have a different genetic counselor come in and do the family history part; we spent an hour going through the health of our extended family. Our day at the Clinical Center ended at 5:00 pm.

We then rushed off to go to the shoe store to get Lorna a new pair of shoes for the orthotics. It isn’t an easy task to go off to the store when you’re in a city. We had to take a shuttle to the metro, go down what appeared to be a five story escalator, buy some tickets for the metro, go down more escalators and finally get on the metro. It was raining to so we had to take umbrellas. We stopped for diner after we went to the shoe store. Coming back we had to go through the same things and go through security to get back into the NIH campus. Lorna didn’t like those escalators nor did I. We got back in time for Lorna to sit at the book area for a little while before we called home to talk Cloey, Jadon and John, we miss them so much. It’s hard to explain but my emotions are right on the end of my sleeves, meaning I get teary eyed very easily. This isn’t typical for me. I think because it is hard to continue to have Lorna looked at over and over she gets very fearful that something bad is going to happen. She has said many times this week “hold me mom” when she is going through all the probing and prodding.