Sunday, January 29, 2012

RARE Disease Awareness

World Rare Disease Day is in exactly 30 days! Do you know why 30 is a significant number? Because 30% of children with rare diseases die before their first birthday. In honor of that, today the The Global Gene Project is having a "blog hop". After you read my post, please click on some of the links at the bottom and view the other blogs!

First, some facts on rare diseases:
It is estimated that 350 million people are affected by rare diseases. That includes over 30 million Americans (1 in 10 of the population). That is more people living with rare disease in the U.S. than people living with cancer worldwide! There are more than 7,000 rare diseases, with some affecting less than 100 people (75% affecting children). 80% of all rare diseases are genetic. ALL rare diseases are chronic, life threatening, and fatal (only 5% have any treatment). Over 50% of rare diseases have no foundations or advocacy groups

Epidermolysis Bullosa:
Raul is affected by Epidermolysis Bullosa, a rare genetic skin condition. In the U.S., 1 in 50,000 people are affected. While in the UK, it is 1 in 17,000. EB has been coined "the worst disease you've never heard of", and I agree wholeheartedly! EB does not discriminate regarding race or gender. People with EB live every day with pain from bodies covered in blisters and open wounds, both internally and externally.

Wound care takes hours daily, and most children need to be heavily medicated to endure the associated pain and anxiety. These non-healing wounds often leave to Squamous Cell Carcinoma, one of the leading causes of death among EB patients. Another major issue is with infections. Patients are always fighting infections, and many deal often with septicemia. Raul has had two episodes of septicemia, meaning his infections spread to his blood stream. This infections are VERY dangerous! There is no cure, we can only treat the wounds and other symptoms as they come.

Most people with severe EB, like Raul, need feeding tubes to keep them alive, as their bodies require so much more nutrients than that of a healthy person their age. Dental issues are a real problem for people with EB due to fused tongues, contraction at the sides of the mouth, and scarring within the mouth because of oral blisters. Many will have to have their teeth removed, as it is nearly impossible to keep the teeth clean and healthy. These issues also affect the person's ability to eat.

People also need surgeries to dilate their esophagus, which becomes narrow due to blisters and scarring, which affects their ability to eat and drink. Continuing down the GI tract, constipation is also an issue, as well as fecal hoarding due to the serious pain of having bowel movements. Both due to poor nutrients, and open wounds, most people with EB deal with anemia as well. People with severe forms of EB often need blood transfusions, as their levels get much too low. Most take iron supplements, and sometimes IV infusions.

There are many types of EB, including Simplex, Dystropic, and Junctional. Almost all babies with Junctional-Herlitz EB die before their first birthday. Raul has Recessive Dystrophic EB, which can be considered the worst "living" form of EB. These patients can live very short lives, but may live average lifespans. This type of EB is disfiguring, and the hands and feet usually fuse. Painful surgeries are available to separate fingers and toes, but they usually just fuse back together. Many patients with RDEB, and other types of EB, are in wheelchairs due to the pain and difficulty of walking. Mild alopecia can also be associated with severe RDEB.

As one adult with EB says, "It may sound like we have horrible lives but we do really well and find ways to be active and involved and pursue our dreams : )". I have seen this be true with ALL the EB patients I have met either in person or online (from babies up to adults). They are surprisingly happy, and live life to the fullest. It is part of who they are, and to them this is just life. Raul, and his other EB friends, know no different. They are more courageous in one day than many of us will have to be in our lifetimes! Please help us spread EB Awareness, and work towards one day having a CURE!

Thursday, January 26, 2012

Medical/Developmental Update

For those reading this blog for the first time who have come over from the story on, welcome! Please read back through the posts to learn more about Raul! And for my regular blog readers who haven't read the other story, here is the link:

Medical/Developmental Updates:
Raul had a short inpatient stay about two weeks ago. We were admitted directly by his pediatrician for IV antibiotics for skin infections, but once we got there they decided to just continue his oral antibiotics. It was a very frustrating experience for multiple reasons, mainly that they did not do what we were admitted for, and their bandaging suggestions. They bandaged him in a way that stuck HORRIBLY, and then said we were to continue their method at home. Sorry, not going to happen. What we were going was working just fine, and not hurting him by sticking and pulling off his skin! They were suggesting products that most EB patients don't do well with over open wounds, so we plan to stick with the better bandages. Especially since that is what was suggested to us out in CO by the EB specialists!

We had a much more positive experience outpatient at Shriner's Hospital. The hospital is amazing, and everyone was so kind. Raul loved the waiting room full of other kids and nice volunteers (and he wasn't nervous as usual, because it doesn't look like a doctor's office waiting room). The bandage change went well, and the doctor said he thinks Raul's wounds are looking better than when he saw him a couple weeks ago. They took pictures of his skin, and measured the areas that are granulated tissue (not actual epithelium left). We may try grafting the areas in the future, but his wounds have too much bacteria in them at this point. We will continue to go every three weeks so they can monitor the wounds, and make suggestions accordingly. Next time, the dermatologist from MGH will go over for his appointment so she can see him without having to take off bandages at a separate appointment. That plan was arranged today at our visit to the pediatric Coordinated Care Clinic.

Overall Raul is doing really well medically. Not many fevers lately, and his skin is looking pretty good (his right leg is the worst right now). We have been using silvadene on the worst areas, and it seems to help. He has gained weight again, and is now just under 24 pounds! The inpatient nutritionist told me that he is at about what would be her target for him at this time! Developmentally he is making progress as well! He now waves for "bye" and "hi", claps, signs more, shakes his head no, is happy to practice going from sitting to standing, and loves sitting up. He can almost sit up on his own now, but still just falls backward to lie back down, so we have to put pillows behind him. Instead of turning to the side to sit up like PT wanted him to do in CO, he has decided that it is easier to just do a sit up. He definitely has strong stomach muscles, and only needs a little help at this point to do it! We also have him sit on our laps with his feet flat on the floor, then he uses our arms to help push himself to standing! His legs are strong, but he has very little balance, so he needs a good amount of help with that. Overall, he is just super playful and funny, and he keeps us laughing every day!

Saturday, January 21, 2012


You might think from the look on his face that he didn't like being out in the snow, but actually, he LOVED it! My mom ended up taking him out again for a walk as he was just so upset when he came in the first time!

Thursday, January 12, 2012

Recent Photos

Raul being checking his stocks on the iPhone (seriously!). He knows how to swipe the screen with his thumb, but the stocks are his favorite! We are hoping to get him an iPad in the future to help with communication!

Raul and his baby doll. He loves when it makes its baby noises.

Kristen and her parents came to visit Raul
Raul likes to lounge, no matter where he is!
Smiling during dinner
With a toy from our friend Kristen who I volunteered in Romania with

Rolling around/under the table in our family room

He has decided that he likes bottles again, but only for juice or water

We spent a couple nights at a hotel in Boston, and Raul loved going out on walks in the city

Raul has been playing a lot on his belly recently

Not sure about Christmas church

Another update about Raul's recent quick hospital stay will be coming soon!

Friday, January 6, 2012

Raul's Hands

Hands are often an issue for people with EB (especially recessive dyastrophic like Raul). We had not been wrapping his hands before, and they weren't wrapped in Romania, so the fingers have started to web and the fingers have started to curl down. About a month ago I decided to try doing the hand wrapping. There are certain methods used to keep the fingers from webbing/fusing. At first Raul would just rip them off as soon as I finished putting them, but finally I have found a method that works for him! And with this way his palms and fingers are unbandaged, so he is not losing any function. I think they are starting to look better! The skin is also improving because I wrap them with a bunch of aquaphor rubbed on his hands underneath. Hopefully this will keep us from needing hand surgery for a long time!

About two months ago in CO

His bandaged hand today

Hand today looking good!