EB Clinic

Yesterday was a whirldwind of appointments for Raul at CO Children's Hospital. We started off with a 10 AM appointment at dermatology with one of the dermatologists, a genetecist, a PT, and some residents. At this appointment they looked at one of his legs, talked about wound care, talked about some of the testing, and talked about what benefits physical therapy would have for him. The geneticist talked about some of the possible genetic tests, and it was decided that they would NOT do the skin biopsy to test for his subtype of EB, as all the doctors at this appointment and the others agreed that he has RDEB. The biopsy or other genetic tests could show gene mutation, but it would not change his treatment in any way, so it was decided that it was not needed.

After that appointment we went over to the Dental Clinic to have Raul's mouth looked at. Raul FREAKED out, and they couldn't even look in his mouth at first. The resident got the attending, and she was able to get a long enough look to note that there was not any infection or decay. He has one spot where he used to have a tooth, and now does not, which they will x-ray at the same time as one of the other procedures since he needs to be asleep. They think the tooth broke out, as there is still some tooth in the gum, but it is at least not infected!

Next we went to lunch, where we ate with an 8 year old EB patient and his mom and grandma. They were all very nice, and were able to give us some advice and information about care for RDEB children. They also generously gave us wound care and nutrition supplies! It was great to meet another EB family!

Then it was back up to dermatology for the clinic. We first met with a nutritionist, who gave us some helpful suggestions to add calories and nutrients to what Raul eats. Some of it will be hard, as he is very particular about what he will eat, but we'll try! She also discussed using a G-tube to get him adequate nutrition. Pretty much everyone we talked to seemed to think this was a good idea, including the EB families, but then one doctor brought up that he did not think they were used in Europe, so he could not go back with it. That was a little disheartening, because it seemed like he might really need it, but today I talked with his doctor in Romania, who then talked to a surgeon in Iasi who said that while they do not have the supplies, if we sent extra tubes for when he grows, or whatever was needed, that they could do it. They also said that they do esophogeal dilations there, which was another question we had.

Next we talked to a wonderful anesthesiologist who has been working with EB patients since the 70's. He has very friendly, and playful with Raul. He explained to us the ways that they do the anesthesia and monitoring that are best for EB patients, and which procedures/tests could be done together under anesthesia. After him we saw an occupational therapist who will hlp us get some services for Raul. I think she was his favorite, as he gave her a two footed kick (one of his signs of affection haha). We also saw a second dermatologist who apparently had worked with Dr. Enns to get Raul approval to come to the hospital. It was great to meet someone that had worked to get Raul here, and he was very nice.

We also saw a pediatrician and his resident. They will handle all his general care, and we will have a follow-up appointment with them next week. He orded some vitamin supplements for Raul, along with an antibiotic drop for his eyes in case he has problems. He also ordered a TON of blood tests to be done. At the end the dermatologists and wound care nurses came in again to look at a spot on his abdomen that has been open since I've known Raul. It has actually healed a bit now, so they do not think he will need an grafting there. They showed me some tricks for bandaging that area, and then we were sent off to the lab for bloodwork!

The lab techs knew some tricks for dealing with EB patients, but Raul was a very hard stick. He has a lot of scar tissue in the areas where blood is normally drawn from, and was a bit dehydrated making his veins harder to find. They tried three times, with digging at all the spots, and only got enough blood for about half the tests (though it looked like a lot of blood to me!). It took four adults to hold him/take his blood, as he was freaking out. He hadn't gotten to nap all day, and he had just fallen asleep when we got to the lab, so was frustrated to be woken up too. The poor guy cried and screamed the whole time, but he was a brave boy! They are only allowed three sticks per day though, so we are going to have to bring him in and torture him again later today. Sadly, they blew his one good vein, so I am not sure where else they will try.

They should be contacting us soon too to schedule his esophogram. With that they will look for esophogeal strictures which could be causing him to have trouble swallowing. If they find strictures, they can do a dilation to help him, but if that is the case, he will likely need more dilations in the future due to his type of EB. Luckily I have found out that they CAN be done in Iasi if he needs them when back in Romania.

When we go back to the hospital for the bloodwork, we will also be filling his prescriptions. They were very generous, and gave us a card to use for his prescriptions that will take the money needed out of en EB patient fund, so we will not have to pay out of pocket. The wound nurse was also able to get in touch with an EB organization, DEBRA, which will help provide the supplies Raul needs while he is here. She put in an order for what we will need per week, and they will send out the supplies to us! All the doctors and nurses we met were very nice, and they all seemed to be charmed by Raul!