1. Home
  2. Insights
  3. Blog
  4. sharing my rare disease story - Amanda Huber

sharing my rare disease story - Amanda Huber

I had never heard of Alpha-1 Antitrypsin Deficiency (Alpha-1) until my best friend Chris was diagnosed when she was 45. Alpha-1 is a genetic (inherited) condition – it is passed from parents to their children through their genes. Alpha-1 may result in serious lung disease in adults and/or liver disease at any age. A1AD was discovered in 1963, the link to the liver was discovered in 1970. They are still learning more and more every year. Alpha-1 antitrypsin deficiency (A1AD) is a disorder that occurs most frequently in Americans of Northern or Central European descent, affecting approximately 100,000 Americans. However, because most cases of A1AD go unrecognized, the disorder is very much under-diagnosed. The Alpha-1 Foundation has lots of great information and can provide free testing.

Chris’ story

After a lifetime of constant upper respiratory infections, pneumonia and shortness of breath she was left not understanding why in her 40's she was struggling like she was. She had been diagnosed with COPD in her 30's but had been a smoker, and that is what her lung health was blamed on. She also had liver disease.

She met with a new Hepatologist who decided to test her for this "rare disease" but assumed it would be negative. A few days later, at the age of 45, she was diagnosed with Alpha-1 Antitrypsin Deficiency. It was a shock to her, her family, and our circle of friends. Although her parents were both carriers, which they found out after being tested, none of us had ever heard of this disease.

She started on weekly infusions about a month later and has been on them for about 4 years now. Her respiratory infections have been drastically decreased since starting infusions, but there is no way to reverse the damage that has been done to her lungs. The weekly infusions do not help with the liver disease so she will be looking at a possible transplant at some point. A liver transplant is also the only way to stop her liver disease from progressing at this time.

Chris and all of us who love her are grateful that she was diagnosed when she was so that she could begin infusions to help slow the progression of her lung disease and she fights every day to help bring awareness to Alpha-1 in hopes a cure can be found.

Since Chris was diagnosed I have been donating plasma twice a week to help her in the only way I can. It takes 900 plasma donations to create enough infusions to treat one Apha-1 patient for a year. Although my donations do not go directly to Chris I know they are helping someone who needs them.

For more information on how to donate plasma, please visit Plasma Protein Therapeutics Association (PPTA).

 
In this section

Connect with us