Recently, a friend of ours who we are very close to noticed that there were some strange darker patches showing up on her son's skin. Being a Physician's Assistant herself, she kept an eye on them and then took him in to the doctor. They ran some tests, and found that he has Alpha-1 Antitrypsin Deficiency. Since Alpha One is genetic, both she and her husband got tested as well, and she found out she's a carrier for the gene.
As of right now, they know that she is a carrier, her brother is a carrier, and her father is a carrier. She's waiting on results for the rest of her family members, who also may be affected by Alpha-1.
Never heard of it?
Neither had she.
According to the Alpha-1 Foundation, only about 100,000 people in the USA have the ZZ genotype of Alpha-1, which results in the most damage. 1 in 2,500 Americans is affected. It is not ethno-specific like Sickle Cell Anemia- it affects just about every ethnicity equally. Alpha-1 is caused by a depleted level of alpha-1 antitrypsin, or AAT, which is a protein in the blood. Basically, AAT helps to regenerate the tissue in your lungs. Someone with Alpha-1 has a build up of AAT in their liver, and the AAT doesn't get to the lungs like it should.
How does it work? Let's call a normal gene M. Someone without Alpha-1 has the genotype MM. The mutated Alpha-1 gene can either be S or Z. Someone with Alpha-1 can have a SZ genotype, ZZ, or SS. A carrier for Alpha-1 may have MZ or MS genotypes (and may be slightly affected still, like my friend's son and his skin darkening).
There are varying levels of the condition. Some people with Alpha-1 have liver and lung issues throughout their lives (usually those with ZZ genes), while some may live completely normal lives without even knowing they have or carry the disease. Some people with Alpha-1 die very early, some as early as 35, while others live to be around 60. People with Alpha-1 shouldn't smoke, drink, or be exposed to a lot of dust or airborne chemicals, and have to be careful to avoid common illnesses like bronchitis or pneumonia, because their lungs don't heal the way they should.
If you'd like to learn more about Alpha-1, you can visit the Alpha-1 Foundation website. And as always, we'd appreciate your prayers for this family, for their health and also for their states of mind.
This condition is a little nerve-wracking. My friend's family members could have a milder version and have no symptoms at all, or could be so affected that their daily lives must change. It's really tough to say.
No matter what, though, my friend is trusting the Lord- He knows what's best for this family and their lives, and He loves all of us so much more than we're even capable of understanding.