It is that time of year again for the "Escape to the Cape" bike trek. Members of the Quill family will be riding the 165 miles to raise money for a cure for Alpha-1 Antitrypsin Deficiency. Please read below to see how this disorder has affected my entire family.  

Fundrasing update toward the $1,000,000:

2007 Escape to the Cape - $2,100

2008 Escape to the Cape - $3,000

2009 Escape to the cape - $1,500

Lottery for a Cure - $6,000

Talecris Dress Down Day Sept 2009 - $1,500

Talecris Dress Down Day Jan 2010 - $1,000

Talecris Dress Down Day June 2010 - $1,500 

TOTAL: $16,600

An Alpha Family  

Alpha 1 Antitrypsin Deficiency has been present in my life since the day I was born; not only because I was born an Alpha-1 carrier but because it has affected every single relative on my father’s side of the family.  Alpha 1 has taken many family members much too early in life which I will explain in detail later in this story. Alpha 1 has also brought our family closer together than we could have ever imagined and has empowered many of us to take action and help in the Alpha 1 community whenever we can.  Hopefully, by hearing this story, you will see the need to help in any way you can whether it is financially, through volunteer support, or through education and detection.

My grandparents on my father’s side ,William and Barbara, had five children including my father.  Barbara died in 1969 at the age of 46 from what her physicians determined was severe emphysema.  At that time, neither her physicians nor any family members knew of Alpha 1.  It was later determined that my grandmother was a ZZ.  My grandfather William died at the age of 62 from heart and kidney failure.  It was later determined after his death that he was an MZ.  Together they left behind five Alpha children: Bill, Ed, Jim, Anne,  and Geoff. 

My father’s oldest brother, my Uncle Bill ,was diagnosed as an Alpha ZZ in the late 70’s.  He died at the age of 47 in the early 80’s.  He was on a number of medications to manage his lung disease, but did not have the benefit of augmentation therapy.  He was exploring the option of transplant which at the time involved booth lungs and heart.  Unfortunately he became too unhealthy and could not be listed.  Uncle Bill and Aunt Sharron have two children who are both MZs.

My dad’s next brother, Uncle Ed is a carrier (MZ) and is currently 65 years of age.  He was born prematurely and weighed only two pounds six ounces at birth.  Although he suffered from childhood asthma and currently has some reduced lung function, he is perhaps the healthiest member of the family.   Uncle Ed and Aunt Ginny (MS) have two children -one is an MS and the other has never been tested.

My father’s only sister, Aunt Anne, passed away at the young age of 46 from Alpha related lung disease which was complicated by diabetes. She left behind a son who is an MZ (carrier) and husband who has never been tested.

My dad’s youngest brother, Uncle Geoff, has the most tragic story of them all.  Uncle Geoff died a few years ago at the age of 47 from Alpha related lung and liver disease.  Unfortunately, his physical condition and the emotional problems he had related to Alpha, had a great impact on how he managed his condition.  His wife, Aunt Mary, is a carrier of the Alpha 1 gene and they had three children: Geoff, Greg, and Amy -all were diagnosed as ZZ Alphas.  My cousin Geoff died at the age of 2 from what was diagnosed at the time as leukemia.  We now know it was Alpha related liver disease.  Also at the age of 2 their only daughter, Amy was diagnosed with Alpha related liver disease and was given a very poor prognosis.  She was placed on a transplant list and received the gift of a new liver at the age of 5 and she is now a happy healthy 18 year old high school graduate who is starting her freshman year of college this fall. Their other son Gregg is an asymptomatic ZZ who is currently very healthy and just got engaged this summer.   

Given my dad’s family history ,he is very fortunate to be alive today at the age of 59.  He was diagnosed in his late 30’s and started augmentation therapy in his 40’s.  His lung function slowly deteriorated over time.  His ability to do the simplest of tasks diminished. His daily use of supplemental oxygen was increased until he was on 6 liters, 24 hours a day.  It would take him 3 hours to get himself together in the morning so he would be able to go to a job he loved-  a school principal.  Then on May 31, 2006 ,he received the gift of a new life through a double lung transplant at the University of Pennsylvania.  More importantly, two weeks after his transplant ,he was able to dance with my mother at my wedding. 

As you have read ,we have had a solid run with how Alpha 1 affects a family, and we are not out of the woods yet.  A couple of years ago, my wife Holly and I were discussing starting a family.She decided to get tested for Alpha 1 just to be sure.  Now mind you, she has no known family history with Alpha 1, but low and behold and keeping up with the Quill tradition, she came back as being a carrier and an MZ alpha just like me. We thought long and hard and decided to go ahead and have a child. On April 29, 2009 we welcomed into the world our son Caden who is also an MZ Alpha.  My brother is also a diagnosed MZ.    

Based on my family history, I have made it my life’s mission to do everything I can for the Alpha 1 community. It is my hope that we will find a cure for this hereditary condition. 

Thank you for taking the time to read my family story, I hope it helped tyou o understand how an entire family can be affected and empowered by this disorder. 

Thank you for any support you can give. I know that together we can, and will, find a cure.