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The Journey to Diagnosis Is Often Bumpy

Posted by | 1:48pm on Tuesday, February 15, 2011
bumpy road

Even I, who work in the rare disease space, wasn’t on the lookout for a rare disease 

This post is written by a colleague who also works in the rare disease space. She wishes to remain anonymous to protect her son’s privacy.

My teenage son was recently diagnosed with the rare disease Alpha-1 Antitrypsin Deficiency (called Alpha-1 for short).  Looking back, all the signs were there.  Even I, who work in the rare disease space, wasn’t on the lookout for a rare disease.  Alpha-1 is an inherited condition and occurs when there is a lack of a protein in the blood called alpha-1 antitrypsin (AAT) that is produced by the liver.  The main function of AAT is to protect the lungs from inflammation caused by infection and inhaled irritants, such as tobacco smoke.

A few years ago, at an industry seminar, I even had the opportunity to hear John Walsh speak, President and CEO of the Alpha-1 Foundation and Co-Founder and President of AlphaNet.  Mr. Walsh, along with his brother, has Alpha-1.  As he discussed the disease, I couldn’t help but wonder If that was what my grandfather died of (diagnosed as emphysema), my uncle at age 50 died of (lung complications) or what two of my aunts were dealing with (both lung issues, one diagnosed with Sarcoidosis).  I told my mom that my aunt should be tested for Alpha-1.  Along the way, I was informed that the disease generally doesn’t affect African Americans, so I automatically ruled it out and moved on.

The Missed Signs
As I look back, I think about all the signs that were missed.  When my son was born, he had to stay in the hospital for an upper respiratory infection.  When he was two years old, he had his first asthma attack which required he use a breathing machine for treatments. Over the years, both my son and I dealt with bouts of bronchitis, multiple colds per year and upper respiratory infections – him more than I.  He got really sick about a year ago, around that time he needed to have a yearly check-up.  The physician did all his blood work and when the results came back it showed that his liver enzyme levels were low.  They would perform this test, along with others, every three months over the course of the year.  About three months ago, when my son was having another bout of bronchitis, which turned into pneumonia, they decided to perform a couple of other tests.  To my surprise, Alpha-1 was listed as one of tests they were going to perform.

At that time, I didn’t ask about it but thought it was very odd and a waste of a test.  You can imagine my surprise when I was told that my son has Alpha-1.  I also discovered that Alpha-1 does affect more than western Europeans and that it’s not a disease that impacts only the middle aged.  We went through more testing to understand his type (he has the moderate type of SZ) and I was tested (I’m just a carrier).

Lessons Learned
Words can’t describe how it feels to have a child (my only child) with a rare disorder.  As this journey continues, I have learned to ask questions (my primary care physician doesn’t know much) and challenge the system (the insurance company considers my son a pediatric patient because he’s under the age of 18).  I have also learned that not many Pulmonologists treat pediatric patients.  I have become an expert researcher.  I have learned to live differently, since we can only use certain cleaning products, a HEPA vacuum and change air filters monthly.  I have to compel my son to eat a balanced diet, force him to use his inhaler and encourage him to let me know when he is not feeling well.  As an active teen, he doesn’t exactly understand the need for rest.

The Road Ahead
Although our Alpha-1 journey is proving to be a bumpy one – we need to get my son’s liver levels regulated as a priority – it doesn’t have to be that way for everyone.   My goal is to be the champion of the disease, dispelling the myths by bringing awareness to the fact that Alpha-1 affects many diverse cultures, ages and backgrounds, and more priority should be placed on education and early testing.

Rare Disease Day is a great way to increase awareness of the thousands of rare diseases, like Alpha-1, and perhaps help another family get diagnosed more quickly.

(Image courtesy of Pål Alvsaker on Flickr.)

About Eileen O'Brien

Eileen has more than 16 years of digital healthcare marketing experience. She is an opinion leader on social media and biopharma, and has been invited to speak at industry conferences and quoted in publications.

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