DNA Results

While we were in Cincinnati we had all of our blood drawn for genetic testing. This is important for a couple of reasons. First, it would tell us exactly what type of EB Ella has and give us an idea of what her future may be. Second, it would tell us the likelihood of future children having EB.

There are only 3 ways a person can have EB. 1) They inherited it from one parent (dominant). Typically this form starts more severe and lessens as the child gets older. 2) Both parents carry the gene (recessive). The important thing to know about recessive EB is that in order for a child to have it, both parents must have the gene. If one parent has the recessive EB gene, but the other parent does not, then the kid will not have EB. Typically this form starts mild and gets worse as the kid grows up. 3) Spontaneous mutation. This only happens about 2% of the time.

So on Thursday we received a call that the results of Ella’s analysis were in. You may recall that when she was first born her skin biopsy was diagnosed as being an extremely rare form that she would likely grow out of. Unfortunately, her blood results have come back that the skin biopsy was wrong. Ella has been diagnosed as having Recessive Dystrophic EB (RDEB).

This news was a hard pill to swallow. It means that our precious little girl may only get more severe with time. Unfortunately many of the patients with RDEB don’t make it into their 30’s and usually develop an aggressive form of skin cancer along the way. There are also adults who have RDEB and lead wonderful and productive lives, are married and even have kids. There is no way to determine which Ella will be. Time will tell. The lab is still analyzing my blood and Joe’s blood to determine exactly who carries which mutation of EB (she has 2 mutations, one in each gene).

And to answer the question I know is going through your head, there is a 25% chance that future kids will have EB. Some may look at that and see hope that there is a 75% chance the kid won’t have it. But for Joe and me, taking that risk would be like playing roulette with a baby’s life. It’s not worth the gamble, and it’s not fair to the baby should he or she have to go through what Ella has gone through. There are a few options for us to expand our family including adoption and Preimplantation genetic diagnosis, but for now we are focusing on Ella and giving her the best care possible.

On a positive note, Ella is still the sweet baby we know and love. She is growing more and more, and has recently learned the word “WOAH!” It was pretty funny because until recently she would only eat adult food if we put it in her mouth. She didn’t quite grasp the concept of picking up something and putting it in her own mouth. We went to church today and in the nursery she saw all of these other kids picking up cheerios and eating them. Apparently something clicked in her head and she started picking up cheerios and eating them. She is also testing out standing on her own. She is cruising around the furniture like a pro, but is just starting to test the waters away from the couch. She laughs all the time and has the most wonderful personality. We love her so much!

For more positive news, there is a lot of research being done on RDEB. We are hopeful that as time progresses there will be more and more advances to help all people with EB. You can read about the research being done on www.ebkids.org.

Thanks for all of your prayers. While we are saddened by this diagnosis, we will continue to fight and live life one day at a time.