Day 1 / Undiagnosed Diseases Program

The morning came real fast since we went to bed near 2:00 am. We reached the admissions office about 8:30 am and without eating breakfast. They have it set up interesting where we are admitted as inpatient so we have a hospital room at the Clinical Center but are allowed out on pass to the Children’s Inn when we are done for the day. This allows us to order meals and have a place for the doctors to talk with us. We are sharing a room with another child who is also attending the Undiagnosed Diseases Program.

We started the day off pretty quickly. As soon as we got into the room a genetic counselor, a neonatologist and a physcian's assistant followed. They were all so wonderful and ran through some details about the process. The genetic counselor commented on how well put together Lorna’s records were. I did it chronologically in access and had links to pdf files of the reports if I had them. Then it was on to prenatal history, the history of Lorna’s birth and early infancy. That was from about 9:30 am and 12:00. At 12:00 Lorna saw an audiologist and did an audiogram and hearing test. They said she has some hearing loss in the high frequency sound; this is new since she had the test done 3 years ago. It has been something that we have checked because of her ear shape doctor immediately think of potential hearing issues. This will be something that we will have to keep an eye on. They suggested that we may look into doing an ABR, which has never been done before. At 1:00 pm she saw a dentist he didn’t see anything indicative that would help with diagnosis, but we were able to do a panorama x-ray of her teeth which show a lot of delays and some impacted teeth. She was so great with this process of examining her teeth; they also had to stretch her lips out for several photos. By the end of this it was 2:00 pm, so we took a well needed break. Lorna and I went to the cafeteria and had a bit to eat since we didn’t have a Lunch. We went back to the room and we were able to put in a movie for her and I got to relax. The 3 of them came back and did a head to toe exam of Lorna, they are very intrigued by her finger nails they are half white and half red. If I wouldn’t have forgotten my camera I would have been able to add a photo. I will add one at the end when I get all the reports and summaries of our time here.

The day was done at 4:00 and we were able to come back to the Inn and do some playing in the play area and reading books and of course eat supper. The Children’s Inn is amazing; Lorna and I haven’t had to endure staying in this type of place. It has been a wonderful experience so far. They have volunteers here helping at the desk and managers staying the whole night. They help everyone in so many ways and some families have to stay here for a very long time. It is nice to know that there are so many caring people.