Rare Disease Day 2016 Alpha 1 Antitrypsin Deficiency
In 2000 my youngest daughter became very ill with elevated liver enzymes and the doctors could not determine why. They ran test after test as she became even more ill with projectile vomiting and reflux. Finally her gastroenterologist suggested that she needed to have some genetic testing done in order to determine if she ha
d Alpha 1 because she had been so ill and her liver had reached grade 4 of liver failure. I took our youngest daughter for her genetic testing and to our surprise she was diagnosed with Alpha 1. The doctors then in return wanted me and my ex husband to be tested for Alpha 1 to determine whom had passed it to her genetically.
As it turns out we both were carriers of Alpha 1 Antitrypsin Deficiency. At that point the team of geneticists had us take all our children and have them tested as well. As it turned out 4 out of our 5 children were also carriers. As my son carries an allele that I do not carry in my genetic DNA make up his biological father as well has to be a carrier. My son is a little different story as his phenotype is SZ which raises a lot more health concern than the test of us who are MZ. MZ also has health problems but SZ is just farther down the rung on the totem pole for illness and early onset of illness.
Today being Rare Disease Day I wanted to share a little with you about my being a carrier of Alpha 1. Alpha 1 Antitrypsin Deficiency is considered a rare disease for the simple reason that there are so many people that go undiagnosed or misdiagnosed for Alpha 1. It can lead to inherited emphysema and inherited cirrhosis of the liver. Inherited meaning your own body does it to itself and you have no control over inheriting these diseases. I live like chronically ill and choose not to dwell on it and let it control my life. In the face of challenges, adversity and health related problems I try and not focus on being a carrier of the disease nor allowing it to run my life. I do advocate for the illness and have shared my story before of being an Alpha 1 carrier. I feel that all babies should be tested in the womb or at birth for Alpha 1 so that you do not live your near entire life not knowing you are a carrier and finding out as an adult. I have birthed two children with two men who are carriers and so are both my biological children along with adopted step – daughter’s.
In my opinion it would be wise for musicians and actors alike to be tested for Alpha 1 due to the possibility of early onset inherited emphysema and it effecting the lungs and airways and with breathing problems. Actors and musicians use their voices so often it is imperative that they be tested to determine if they are a carrier or not due to the high risk of it effecting their ability to perform and their future.
This Rare Disease Day I have been reading about the “Spoon Theory” But you don’t look sick. I hope everyone will take a moment and read about the “Spoon Theory” with me this Rare Disease Day 2016. I will continue to share in my story of being a carrier of Alpha 1 and pray that you yourself get tested and have your children and grandchildren tested to determine if you are also carriers. Especially those with lung diseases and liver failure and asthma. I have known for over 10 years now that i am a carrier and try and put my best foot forward and look my best everyday and feel my best everyday to spite living with a chronic illness that I refuse to allow to bring myself down. Fortunately I have been healthy enough to survive and thrive with being an Alpha 1 carrier. Please share my story of being an Alpha 1 carrier with others and get yourself tested as soon as possible to start living the healthy life you so need to be living. Many blessings to you all on this day of Rare Disease 2016.