Day 4 / Undiagnosed Diseases Program

We are on Day 4 now. We started off with putting emla cream on Lorna’s arms at 8:00 am, so that we could to a blood draw, Emla cream by the way is a numbing cream. Lorna did well with the draw, of course she was scared but did well. They drew about 6 tubes for; regular labs, comprehensive, olga micro array (I think it is olga), gene marker for Townes Brock Syndrome, gene marker for CHARGE syndrome, and gene marker for Treacher Collins Syndrome. We will see what comes of those, she has similarities with CHARGE Syndrome and Townes Brock Syndrome but I don’t see much of Treacher Collins Syndrome. I have always liked to look at a particular article because it explores some of the syndromes with ear malformations; I’m going to ask tomorrow about some of the other ones. The articles title is Syndromic Ear Anomalies and Renal Ultrasounds, click on the words and you can see it.

We then went back to the orthotics guy to show him how Lorna’s shoes fit on her with the orthotics. We were also suppose to have an appointment with the occupational therapist at 10:00 am but the blood drawers were over an hour late, so we missed it.

At 12:00 we had a GI (gastroenterologist) come to our room. She went through the history of constipation and reflux with Lorna. She did a simple examination and then a rectal exam. She measured the rectum and the vagina and said that they were closer than they should be, suggesting that the rectum is misplaced. She thought that this would likely be the cause of her chronic constipation. It may be helpful for the doctors to know if she has hirschsprung’s disease, which affects bowels and can be a cause constipation. But that involves doing a biopsy of the tissue, not fun.

At 1:00 pm we went up to the ENT and did a smell test, didn’t hear yet what the results of that were. She also looked at Lorna’s resent CT scan to see if there was any major narrowing of the choanal area (back of the nose). This sometimes can be related to Charge syndrome. There were no signs of narrowing back there to consider possible choanal stenosis.

At 2:00 pm we had a neurologist visit us, she did an exam and didn’t have much to add about the situation. However it did take a long time going through the history, yet again.

At 3:00 pm we saw a nutritionist. We again went through the history, she thought Lorna was getting enough protein but maybe she should start taking some multi vitamins again, to help with not her not having a lot of vegetables.

We were done a 5:00 pm but would have been done at 4:00 pm if the nurse would have brought in the urine cup so that Lorna could give more urine to be tested.

We went back to the Children’s Inn and had some leftovers for supper. They then had a story art program for the kids and we then watched a movie with another family.