How do people respond to Jackson when you take him out in public?
We get a lot of stares but we do not mind. We think Jackson is perfect in everyway. We want people to see his awesomeness!
Do they comment or ask you questions about his blisters?
A lot of people will ask how he got a boo boo on him, or something similar to that. I would rather them ask then give dirty looks so it gives me a chance to educate someone about EB.
How do you respond?
We tell them that Jackson has a genetic skin disprder called Epidermolysis Bullosa, but we call it EB. Someone once told me that you should always give it a name and then you should tell the nickname. It makes it sound like a real thing and not something you made up. We try to explain as much as we can in the short passing we have with them. We want every one to know about EB and just telling every one we see is a good start, we think anyway.
Thanks for posting this. Is this a recessive gene, that brings it out. Like I know with CF its recessive and both parents have to carry the gene. Can your other kids get tested for the gene?
There is actually a reccecive type and a dominat type. I am not really good at this medical crap but I am going to try as hard as I can to explain this correctly.
There do not have to be 2 mutated genes in order for a baby to be born with EB. Just mom or just dad can carry the mutated gene and pass it to the baby. If both mom and dad had the mutated gene then the baby can have the recessive type of EB which is usually more devastating.
In dominantly inherited EB, the mutated gene is from only one parent who has the disease. When a disorder is dominantly inherited, only one faulty gene is required for the disorder to occur. A parent with a dominant form of EB has a 50-50 chance with each pregnancy that the baby will have EB. Birth order and sex of the child do not affect inheritance. If the abnormal gene is not passed to the child, the child will not have EB and cannot pass on the disorder.
In recessively inherited EB, both parents carry an abnormality or mutation in the same gene. But because recessive traits and disorders require two copies of the gene for the trait or disorder to be present, neither of the parents has EB. Instead, the parents are carriers of this abnormal gene. In these parents, the second copy of the gene is normal. In order for EB to occur in their children, both parents must pass the mutated copy of the gene to the child. When two copies of the abnormal gene are paired, recessively inherited EB occurs. If only one parent passes the abnormal gene to the child, then the child will be a carrier but will not have EB. With recessive inheritance, there is a 25 percent chance with each pregnancy that the child will have the disorder. An individual with a recessive form of EB will be at risk of having an affected child only if he or she has a child with a carrier or another person with recessive EB.
and if that is not confusing enough-
EB also can be acquired through a new or spontaneous mutation. That is, a child is born with a dominant genetic mutation that causes EB, despite neither parent having EB. When this occurs, it is because the gene spontaneously mutated in either the sperm or the egg before conception. Once the child has a dominant gene for EB, he or she has a 50 percent chance of passing the disorder to his or her children, as explained above. There is no scientific evidence that the parents could have prevented such spontaneous mutation, and there are no known environmental, dietary or behavioral triggers for this type of mutation.
yes all the kids can be tested to find out if they are carriers. When they decide to have babies in the future I am sure they will all be tested. There are also medical tests that can be done during pregnancy to determine whether the baby will have EB or not.
If the kids are carriers and want to be sure NOT to have a baby with EB then they can do insemination. I know one of the girls with an EB baby now is already talking about doing this for her next child. Using her egg and her husbands sperm they will "get pregnant" in a dish and then do the testing to make sure the "fetus" does not have EB. This is something I NEVER supported before coming in contact with this nasty disorder but I would NEVER wish EB on any innocent baby and think this is a good option for people to be sure they do not have to go through this.
It did not come out wrong at all. There is no wrong in my eyes when it comes to EB questions. I am glad you asked!
You are VERY correct in saying that Bella's was more severe than Jackson's. Jackson has EB Simplex- meaning that the "glue" from the TOP layer of his skin is missing. In Bella's case her "glue" was missing all the way down to the basement layer of her skin. Her type is called Recessive Dystrophic, or RDEB for short. This is generally the most severe type. The glue that I am referring to is the collagen genes that are mutated or missing.
check out this chart to kind of see where each type affects the skin-
Inbetween the 2 levels I already mentioned there is a form called junctional- depending on the actual type of junctional- it can be deadly as well.
So there are 3 main types of EB, Simplex, Junctional and Dystrophic. Inside each of those types there are further subtypes.
Jackson has been diagnosed with Simplex but without further testing we are unsure of the exact subtype of that. We guess sometimes but the type we guess varies daily, lol.
We will not need to know that further subtype unless there is ever a cure. In order to know what gene to replace we would need to know what gene is missing or mutated.
Is EB something that ever goes away or gets better over time?
There is a very very rare form of EB called Transient Newborn EB.
Sometimes the affected gene is just slow to form and it goes away around the onje year mark. Getting this type is even more rare than getting EB itself.
As far as getting better or worse over time- Every EB patient is different. From what people have told me it is worse as they are babies and as they get older the blsiters kind of change locations. Like when he starts crawling he will have more blsiters on his knees, when he walks he will have more on his feet, etc.
How does this affect him as he gets older?
Every EB patient is different. It could get better, it could get worse. I am sure there will be things he will have to avoid, like contact sports, running long distances, or maybe even walking. A lot of people with Jackson's type usually end up in a wheel chair for outtings because walking long distances can really affect the feet.
Will he have to wear protective items to make sure he doesn't get hurt?
It will be up to him how much or how little he wants to wear. I am not going to make him be in a "bubble" his entire life. I will let him decide what he wants to do. When he crawls I will make sure we put some sort of non-adhearent (regular adheasives tear his skin right off) bandage on him so he does not cause friection on his knees. If he has a very open area then I will make him cover it up in order to avoid infection.
