Day 2 / Undiagnosed Diseases Program

Our second day started at 8:00 am after we grab a quick muffin, milk and coffee. Our first stop was with speech pathology. The speech therapist asked some questions and talked with Lorna a bit, she had already looked through the files that we had sent. I didn’t send any of her IEP’s or her recent evaluation, I didn’t realize that we would be seeing therapists. I did however bring those things with us so they can view them. She expressed a need to have a behavioral plan of action for her to use more words for sentences even if they aren’t understandable. Currently Lorna mostly expresses with 2 to 3 words, she doesn’t use I, we, me and the other common words used in conversation. If she does it takes her a long time to get it out and needs some prompting.

At 9:00 am we visited with the ophthalmologist, we were there until 2:00 pm. We did the regular eye exams and they used some other equipment to test the eyes in a different way. She had photos of her eyes both inside and outside. In the end the doctor stated that he found the same things that were reported by her current ophthalmologist. He was wondering about the optic nerve, whether it was smaller than it should be. So they will be measuring it by way of photos to determine for sure. He also ask if she has a sense of smell and mentioned CHARGE syndrome, he said that he wasn’t suggesting that’s what she has but just something to look at with the similarities. He will bring that up at with the team. Some of you may remember that CHARGE Syndrome was suggested early in her life. They now have a gene test however it doesn’t show up in all the cases of CHARGE Syndrome, but has been found in many cases.

So at 2:00 pm we were finally able to go have some lunch quickly before our 2:30 pm appointment with Dermatology. The Dermatologist was interested her finger nails again, he was going to do some research on that to see what he can come up with. He mentioned that he usually has seen that type of finger nails in cases where there is some organ failure, I don’t know what that means but we will see.

We headed down to x-ray at about 3:00 pm. Lorna had to have a skeletal survey, this means she needed to have x-rays of all her bones. This of course took a while to do but wasn’t too bad. Lorna was such a trooper through all of this. She didn’t complain too much and was very cooperative through the eye drops, pictures and x-rays. I sure felt drained along with her by the end of all this.

4:00 pm we headed back to our room and was able to meet Dr. Gahl, who is in charge of the program. We didn’t spend too much time talking with him; we were ready to go back to the Children’s Inn. Which we ended up doing at 5:00 pm. We decided to take a grocery trip, which is something they offer several times a week. Again these are all volunteer people who pick us up and take us to the grocery store so that we can purchase items to keep in our cupboard or refrigerator. We picked up some of Lorna’s favorites; strawberries, cucumbers, ham and cheese sandwich and life cereal. I’m still very amazed by the Children’s Inn.