September 2020

April Clemenza

ASMD Patient

Tell us a bit about yourself, such as where do you live and what do you enjoy doing?
My name is April Clemenza. I was born in Southern California on March 23rd, 1983. I am the oldest of four. As far as we know I am the only one in our family to have Niemann-Pick. We moved to Texas when I was little. Currently, I am 37 and live in Cibolo, Texas, a small suburb of San Antonio. I am married to my best friend. Chris and I will have been married 14 years on December 4th, 2020. We have a 5-year-old son named Nicholas. He is our world. My husband is in the Army and we have moved several times over the years but are finally back home. Which means that we are near family. I love being able to spend time together. Matter of fact, it is my favorite thing to do. Growing up, my family was always there for me. Today the only thing that has changed is now my husband and son are there too. They are my biggest support system.  

When did you receive your diagnosis? What led you to diagnosis?
I do not remember the day that I got my diagnosis because I was only two. I have been told the story many times though. Originally my parents were given a false diagnosis of Leukemia. Then at age two, I became sick and was admitted to the hospital with Mono. It was at that time the doctors realized how my spleen reacted and decided to do further testing. My parents finally had their answer, Niemann-Pick B, now known as ASMD. After the diagnosis I was followed closely by several teams of doctors. Mostly by a Neurologist and Hematologist who diagnosed me. My neurologist stated that he saw the Babinski reflex and referred me to the National Institute of Health who at the time were working with Type C patients. That program eventually lost funding and ended though. 

What were the first steps your parents took after diagnosis?
For many years I had normal check-ups to make sure I was on track. Sure, I had little hick-ups along the way but who doesn’t. I went to school like everyone else. I played with all my friends. I did sports like softball, tennis and swim team. I love swimming. I was in band. I loved and still love art. I graduated high school on time in 2001. I lived a pretty normal life except missing a day here or there to stomach aches. 

In the summer of 97, I was away at camp when my appendix ruptured. I spent a little over a week in the hospital. In October of 98 I hit another hick-up. I had developed a rash of petechiae on the backs of my legs, my hands and ankles. We found out my platelets were at 3,000. The doctors ran a lot of tests and came up with Immune Thrombocytopenia Purpura or ITP for short. The doctors were having a hard time getting my platelets to climb to a safe level. They decided it best to prep me for a splenectomy. I remember it clearly. I had received all my shots to prepare my body to not have a spleen. My Dad had gone home for a bit to shower and change. My Mom stayed with me. The surgeons had just come in to discuss everything with us when my Dad came running in and told them “get out! She’s not having the surgery”. See, my Dad had received word from Doctor McGovern at Mt. Sanai. At the time she was head of the clinical research team working with Niemann-Pick patients. She had told him not to let the surgeons remove my spleen unless it was a life and death situation. She explained how important the spleen was to Niemann-Pick patients. 

Not long after that I made my first trip to NYC. I was so excited to be there. I remember meeting my friend Leslie. She was the first person with Niemann-Pick, other than me, that I had ever met. She is no longer part of this world, but I will always carry her in my heart. She is like many I have met and love that have been lost to this horrible disease.  She made me realize I was not alone in this fight. We have each other. 

How did you learn about NNPDF?
Doctor McGovern introduced me to the NNPDF while I was in NYC. In doing so she gave me a connection to an irreplaceable family. I attended my first medical conference in 99. I do not know where I would be without the courage, strength and patience I have learned through the families in the NNPDF. I have made valuable connections to doctors, researchers, other patients, and I was even part of the phase 1a trial for Olipudase Alfa, enzyme replacement therapy. Every year we look forward to seeing everyone at the annual NNPDF conference and learning new information. The NNPDF plays a huge role in bringing our families together and providing us with resources to help guide us to a better future. Being part of a family is being part of something bigger than just yourself. That is what the NNPDF is to me.

What impact has ASMD had on your life?
It has been a long road and these last few years have been my hardest. I have had a continual flair up of ITP and was also diagnosed with Multiple Sclerosis. I am learning new ways to overcome just as I did when I was little. I am looking forward to the future. With the trials for Olipudase Alpha nearing an end there is new hope. A day where I can finally have strength to do day to day tasks without being so worn out. A day where I can take a deep breath and truly breath in. A day where I can keep up with my little man. A day where we can all feel 100%. I know my parents and husband have been waiting for that day too. I know it is close.

How has being an NNPDF member benefitted your family?
The role that the NNPDF has played not only in my life, but all of ours, is huge. They make it possible for us to have the connections to each other, not only here in the states, but all around the world. They have brought us together to support one another and share with each other whether it be grief or happiness. If anyone knows what I have gone through it is all of you, the NNPDF family. Thank you for always being there for my family and me. Stay Strong and stay positive. That day is coming.