During this trip we were able to kill two birds with one stone. We did have the regular clinic that we always take Ella to, but it was also the Debra Patient Care Conference, so we got to meet with other EB families and hear the latest on research and other EB issues. It was so great to reunite with EB families that we’ve met through the clinic in years past, as well as meet others who I’ve called and emailed with for the past 3 years but never had the chance to meet in person.
So first I’ll fill you in on the clinic. To say that this is a packed day would be an understatement. I have to be honest, I was so glad that Ella now has a local ophthalmologist because that meant we had one less doctor appointment and our first appointment was at 10 am instead of 8 am like it usually is. Her first appointment was the bone scan and I was scared! Ella had an x-ray one time and she flipped out completely, so I was expecting that to happen again. I was pleasantly surprised. Another EB mom with a 3 year old kept telling me not to worry and that it was a piece of cake…I was still skeptical. Well, the mom was right. We went into the room, Ella laid on a table and we kept telling her that it was a big camera that was going to take her picture. Luckily this is a children’s hospital, so there were all sorts of stickers on the underside of the camera, including several Sponge Bob stickers. Ella laid perfectly still, just like she needed to, and talked to “Funge Bob.” It took about 10 minutes from the moment we entered the room until we walked out the door and Ella was a champ the whole time. The actual picture only took about 10 seconds.
This was perfect timing because it gave us about a 45 minute break to go grab breakfast. We ran down to the cafeteria and Ella alternated between eating Coco Krispies and Froot Loops. The good news is that she ate a lot. The bad news is that her next appointment was with the dentist. This is the one appointment that actually goes BETTER when Ella cries. She didn’t really scream, she was just annoyed, so her cry was more of a whine. The dentist was able to get a good look at her teeth without causing any mouth damage in the process. The great news…NO CAVITIES!!! Woo Hoo! She does have significant oral scarring, which we already knew. This means that her mouth is smaller than the average mouth, so it’s harder for her to get all the food out when she eats, so we just have to be careful. Luckily, Ella doesn’t like having food stuck in her mouth and she usually tells us when something is stuck so that we can get it out.
Now it was time for lunch, so we ran back down to the cafeteria and shoved some food in our mouth. We were able to connect with 2 other EB families while we were down there and get some good conversation in before the clinic started. We had to be upstairs by 1:00 for the clinic. This is such a blessing and a curse. It’s great to just sit in one room and see all the doctors we need to see, but it makes for a long time (4 hours). And it happens right in the middle of nap time, which can be interesting. I won’t go into all the detail from all of the doctors, but I’ll just hit the highlights.
* They are very pleased with Ella’s eating and growth curve. She weighed in at 27 pounds and is exactly 3 feet tall. This puts her in about the 20th percentile for weight and about the 30th for height. Her BMI has gone down a little bit (BMI isn’t even calculated for the average kid, but for EB kids it’s very important), but not enough to warrant significant concern. All in all they are really pleased and are so glad that she eats so much meat (what can I say, her mom and dad are both meat eaters).
* At this point Ella doesn’t show any signs of internal involvement (PTL!!!). That could change in a second, but the GI doctor doesn’t think she has any strictures in her esophagus, especially since she’s eating meat (apparently that’s a big deal) and pretty much eats anything she wants to. He doesn’t feel that we need to have any testing done at this point. While at the conference I learned some valuable statistics. 30% of RDEB kids (Ella) need a g-tube. I thought it was much higher than this. I also assumed that most got g-tubes when they were small, but I’ve learned that some kids don’t get them until they’re teenagers, or even into adulthood. I also heard from a lot of parents who emphasized that the g-tube is not a punishment and in fact, their kid was able to be more “normal” than ever before because they weren’t so concerned with eating and were finally getting the calories their body needs. I also learned that 60% of RDEB kids need a dilatation (if there is closure in the throat this is a procedure where they go in and stretch it back out). I also thought that once you get a dilatation that you have to go back every 6 months to a year to get one. Apparently that’s not the case and some people will get one then don’t need another one for several years.
* We had a lengthy conversation with the hand doctor and basically, he gave us some suggestions on things to do, but at this point he’s not too concerned. Maybe I should take a picture of Ella’s hands to show you all what we’re dealing with. Basically, on her right hand her middle finger and ring finger have connected. He said that if you have to have 2 fingers joined together, these are the best ones to have connected. Rarely do you use those two fingers apart from each other. In fact, the only time it’s needed to have them separate are to wear a ring. Apparently it’s very common for babies (non-EB babies) to be born with those to fingers connected, and many go on to lead a completely normal life without ever having their fingers separated. He said that she will likely need hand surgery in the future, but he’s not going to do surgery just for those fingers and that we should just treat them as one finger and she’ll be fine. After talking to him I felt so much better and honestly, I wondered why I was so worried in the first place. We are going to start wrapping her hands and see if we can prevent further webbing and contractures, and hopefully reverse some of the contractures that are already forming, but all in all I feel much better about the state of her hands. He also emphasized how great it is that she has complete use of her thumbs. The thumb is the most important finger and he said that a lot of EB people won’t have any surgery at all until their thumb is completely fused.
As always, the doctors were incredible! We are fortunate to have a wonderful dermatologist, pediatrician and ophthalmologist locally, but it’s so comforting to have all of these EB specialists to evaluate Ella each year. They know exactly what to look for and I don’t have to worry about Ella getting more damage to her skin while we’re there because they’re all so gentle. And I know that they see several EB kids, so they know if what she’s experiencing is normal EB stuff or if we should be concerned. It is so comforting!
Ella was a champ! She let the doctors look at her hands, listen to her heart, and look at her boo boos without a problem. She was completely exhausted, so at one point during the day she just laid down on the table and fell asleep. She slept about an hour before waking up. Unfortunately she woke up right as our room was filled with new people, so she had a minor melt-down, but nothing that she didn’t get over quickly. At the end of the day we had to go get her blood taken and as we were leaving the clinic Ella said, “That was a lot of doctors!” Yes, it was about 13 medical professionals in all (although I can’t remember exactly how many it was).
After the clinic we headed to the Newport Aquarium to meet the EB families that were attending the Patient Care Conference. It was a fun night of checking out all the fish and just hanging out. Toward the end of the aquarium Ella leaned back in her stroller and said “Mommy, I’m ready to go.” She was exhausted. I looked at Metti and asked if she was ready to go and she yawned. Yep, it was time to go to bed. Of course as soon as we got to the hotel room Ella asked for a hamburger, but it was late so I just gave her a snack and we went to bed.
Everyone is really pleased with how Ella is doing. They don’t see any issues of concern right now, so we’ll continue to take her back once a year unless something major develops. It was a good visit.