2 posts tagged “hereditary disease”

Life with Cystic Fibrosis: Three Teenagers’ Perspectives

Posted January 13th, 2012 by

Unlike most of the health conditions we cover at PatientsLikeMe, cystic fibrosis is one of the few communities where the majority of our members are under the age of 29.  In fact, approximately 60% of our 440 cystic fibrosis patients report that they either fall in the 0-19 or 20-29 age brackets.

A Snapshot of the Cystic Fibrosis Community at PatientsLikeMe

What exactly is cystic fibrosis?  A hereditary disease, cystic fibrosis causes the exocrine (secretory) glands to produce abnormally thick mucus.  This can cause problems with digestion, breathing, body cooling and male reproduction, among other things.  Most people with cystic fibrosis are diagnosed by age 2, although some are not diagnosed until 18 or older.  (The latter individuals usually have a milder form.)

Cystic fibrosis is the most common genetic disorder affecting Caucasians in the US.  It is also the most deadly due to the respiratory complications that can occur.  According to the National Institutes of Health (NIH), millions of Americans – including an estimated 1 in 29 Caucasian Americans – carry the defective cystic fibrosis gene.  To develop the disease, however, a person must inherit two defective genes (one from each parent).

So what’s it like to grow up with cystic fibrosis?  Here’s what three teenagers had to say in a recent discussion in our Lungs and Respiratory Forum:

  • “I had never had any hospitalizations until the summer I turned 16. I was hospitalized for a ‘tune up’ which barely did anything that I noticed. I went back to living life as I normally did. In high school I was on the volleyball team, in two bands and kept up honor roll grades. This past year has been the worst health wise. I have been hospitalized twice and the discussion of a lung transplant has begun. I cannot believe how quickly I went from having an almost totally normal life to living everyday worried about my weight and lungs and health.” – Female, 18 years old
  • “I have some bad days but I’ve never been hospitalized.  This leaves me wondering what the feeling is like to be spending a lot of time in hospitals. I was diagnosed when I was 4, after my mum had tried to convince the doctor for 3 years that something was wrong with me. Without cystic fibrosis (CF), I don’t think I would be the strong person I am today. CF has made me who I am, but I am the only person with CF that I know.  No one in my family has CF so they rarely understand how different I feel, like an outsider sometimes.  But all they say is ‘don’t be stupid, you’re normal.’” –  Female, 17 years old
  • “I was diagnosed at about 3 days old, and I practically lived in the hospital until about 5. Then I was only in once in awhile. The past school year I started to get really sick. And I’m currently in [the hospital] right now. It seems to be every three months I’m admitted, and I always pack a bag on my way to the doc because I know I will be admitted. Life is hard, but I’m thankful it’s not worse. I got to play some sports, and I have my best friend who supports me with everything.  It sucks to see my sisters get up and go to school without worries, and complain about little things. But then again I wouldn’t want any of them to have this.” – Female, 17 years old

This is just a sample of the wealth of experiences and data to be found at PatientsLikeMe.  Dive in today to learn more about cystic fibrosis.


I Will Not Be Quiet: An Interview with ALS Advocate Debra Quinn

Posted August 16th, 2011 by

ALS Advocate Debra Quinn with Her Husband and Caregiver Mike

Debra Quinn’s father, sister, aunt, grandmother and great aunt all passed away from ALS, and in 2009, she was diagnosed with ALS herself.  This hereditary form of the disease is called familial ALS (fALS).

After the loss of her younger sister in 2007, Debra decided that she could no longer stay silent.Today, she is “the voice for my children, nieces, nephews and cousins, all of whom have a 50 percent chance of inheriting ALS.”A featured speaker at National ALS Advocacy Day in Washington, DC, Debra is also the spokesperson for Hearts for ALS NY and an active member of the The ALS Association’s Upstate New York Chapter.As a result of her tireless activities, she was recently awarded the New York State Senate Liberty Medal.

After learning about her remarkable story, we reached out to Debra to find out a little more about her.Here is our interview with the indomitable Debra Quinn, one of more than 7,100 PatientsLikeMe members with ALS.

1.  How would you describe the impact of familial ALS on your family?

It has truly changed our lives. We always knew it was there, but until you are faced with it yourself, it just doesn’t seem real. We have two grown children who have a 50/50 chance of ALS and it is scary for them to watch the changes in me, knowing that could be them someday. With the onset of ALS early in age, it never leaves their thoughts.I was diagnosed in October of 2009 with early onset symptoms, and since Christmas, I have seen changes coming on faster.

2.  Tell us about your ALS advocacy work.  How did you get started, and why do you feel called to do it?

I started to give public presentations over a year ago about ALS and what it means to have this type of disease. In order for people to help, they must first understand what it is and how it changes a person’s body over the course of time. I went to DC in May and was able to speak out about familial ALS, which is only 5-10% of all ALS cases.

Teaching the general public that familial ALS happens again and again and again really drums home the challenges that we must face with this inherited disease. Proving that ALS does not skip a generation, we have traced it back to the early 1600s and learned that more than 20 of my father’s ancestors had ALS.

In January of 2011, several supporters of ALS stated a nonprofit organization called Hearts for ALS NY, and I volunteer as their spokesperson.My advocacy role comes straight from my heart. I speak to anyone who will listen as we have a unique story that must be shared. My goal is to speak nationally about this disease and not stop until we have a cure on the table.

When you come from a familial ALS family, it just keeps attacking again and again.  Watching my little sister die of ALS and not having the help we needed to take care of her, I refuse to be quiet about this disease as it needs to be talked about and shared with others. So many feel that they must lay down and die once they hear the three-letter word, ALS, and that is not true today with all the assistive equipment that is out there for people with ALS.

3.You received the New York State Senate Liberty Medal in June 2011.  What does this recognition mean to you?

I was really honored to receive the New York State Senate Liberty Medal. This is for all the people who have supported me and joined me in the fight against ALS. I’d also like to thank Senator Catharine Young for her support of the ALS community. ALS seems to be the secret disease that has no outspoken person to really tell the world exactly what ALS is and how to live with this horrific disease each day. I’m proud to be raising awareness of this disease and be the voice of others. I will never, ever give up.