Another disease for you to be checked for (If you are kin to me)

Aunt Ima called today and I immediately felt guilty. Carson and I had been near her home in Riverchase just a few days ago, but I didn't stop by because we'd been at the park for several hours already, and Carson was tired and sleepy.

"Not to worry," she said, relieving my guilt. "I wasn't home on Tuesday."

Aunt Ima is my grandmother Dorthy's youngest sister. Sort of the Beth of her family if you will. She was calling to tell me that I should be checked for a type of rare disease that it seems our family carries: alpha 1 antitrypsin deficiency.

Her niece (a cousin of my mom's that we never knew due to divorce) had contacted her a few months back looking for health information about her father, my late uncle, Lester Earl Maddox. The niece, Lisa Wollenburg has since passed away due to liver complications of the alpha 1 disorder, but through this contact, Aunt Ima realized that she needed to check into what line 2 on Uncle Earl's death certificate said.

Alpha 1 antitrypsin deficiency.

She had the test and she is a carrier. She recommends that anyone related to us through Foster Maddox (yeah, the Marfan's Great grandfather that I LOVED and still miss) should have a simple blood test to see if they have the disease or are a carrier.

So, if you are kin to me through my mom, get that test!


Alpha-1 Coded Testing (ACT) Study

You may choose to be in a private testing program called the Alpha-1 Coded Testing (ACT) Study. You may obtain an Alpha-1 Test Kit (finger stick) by calling the Medical University of South Carolina toll free at 1-877-886-2383.
You perform the test and the results are returned to you in 4-6 weeks. This study also screens for the most common genotypes. A counselor is available to discuss the results with you. There is no cost to you or your insurance for this testing service.



Speaking of diseases that run in our family....

As some of you folks know, Marfan's is prevalent on my mom's side of the family.

Contrary to popular thought, you don't have to be extremely tall to be effected with Marfan's. Most Marf's are regular height.

Some indicators of Marfan's can include lax joints,(when you stand straight it look like your knees are bowing out) and an arm span that is longer than you are tall. Also, Marf's can get a lot of inflammation around the rib cage and can, but don't always, show signs of scoliosis.

But the dangerous part of Marfan's is what it does on the inside. It causes all of your connective tissues to be weakened. You are susceptible to an aneurysm or aortic dissection at any time, without any warning. That usually results in death, although thankfully Uncle Ben survived his! My mom, Bettye Sue did not. She was 39 when she died. Her cousin Mike Maddox died suddenly, but the cause is unknown. He did have the white forelock that is sometimes associated with Marfan's.

So get checked.

ALSO: See this post for our new family disorder.