Junctional epidermolysis bullosa (JEB) are a group of disorders that cause problems with important proteins in the body, such as laminin and collagen. JEB mainly affect the skin and connective tissue in the body.
People with JEB usually have very fragile skin that blisters easily. There are two forms of the condition, which vary in how serious they are: Herlitz and non-Herlitz.
Herlitz is a serious form of JEB that can be fatal in the first year of life, due to widespread blistering that affects the entire body. Unfortunately, this can lead to difficulty eating and breathing and a increase the risk of infections. People with non-Herlitz JEB have a milder form of the condition, which can cause blistering of the hands, feet, knees, and elbows. This form of the condition is manageable and not life threatening.
As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.
Junctional epidermolysis bullosa (LAMC2-related) is known as an autosomal recessive condition. For autosomal recessive conditions, if a person has a variation in one copy of their gene, they are a carrier. This means that they are healthy because they also have a working copy of the gene. But, they can still pass their non-working copy to their child.
If the other parent also happens to be a carrier of the same gene, there is a 25% (1 in 4) chance that they both pass this gene variation on to their child — and as such, have a child affected by the disease.
If both parents are carriers of Junctional epidermolysis bullosa (LAMC2-related), there's a one in four chance that their children could develop symptoms.
Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes Junctional epidermolysis bullosa (LAMC2-related), but there's a total 301 conditions that can be tested.
Eugene's carrier test is a clinical grade test that can be done from the comfort of your own home — it's just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.Learn more about carrier screening
The biggest benefit of screening for Junctional epidermolysis bullosa (LAMC2-related) is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.
Since 90% of children that have a recessive genetic disease like Junctional epidermolysis bullosa (LAMC2-related) had no previous family history of it, it often feels completely out of the blue for the parents. Getting screened is a way to know this risk in advance, which can help familes manage or even prevent the disease in the first place.