|
|
| |
|
Home >> Patient Advocacy >> Patient Portraits >> Maddie & Emma
Patient Portraits
Pompe Disease
|
Maddie (14) & Emma (17)
Downingtown, PA
“Before we were diagnosed, I thought that I just ran weird. I was weak and my muscles
felt sore all the time, but I thought that was normal for everyone.”
|
In October 2009, Donna and Matthew encountered a previously unknown member of their family—Pompe disease. A medical inquiry into the unexplained hair loss of their youngest child Maddie eventually led to her diagnosis.
“Does she always run that way?” a doctor asked in response to noticing Maddie’s irregular movements.
“It seemed like an odd question, but everything about that day was odd. Standing in the halls of the neuromuscular clinic, listening to doctors and wondering how fast I could escape back to our quiet life. Somehow our lives took a detour we weren’t expecting and I was confused.”
Sibling testing revealed that Emma, Maddie’s older sister, was also affected.
“Once Maddie was diagnosed, I had a feeling I also had Pompe. Being tested was something that needed to be done. I needed to know because if I did have the disease, then I might as well find out and start my treatment early.”
For Maddie, the news of her sister’s diagnosis added to the initial grief. “I was really upset when Emma was diagnosed with Pompe, I didn’t want her to have to go through what I had to go through.” But Maddie and Emma did not allow Pompe to set them back for long. Instead, their diagnoses established a baseline from which to start their tandem climb to fight Pompe disease. Knowing they had Pompe also explained a lot of challenges they had already encountered, such as difficulty running and lifting basic objects.
Within a month, the girls were introduced to their new Pompe enzyme replacement therapy, or ERT, and began to track experiences previously overlooked. With the help of their support team of friends and family, as well as each other, success became focused around small triumphs
having the strength to pick up a milk carton with one hand or operate a spray bottle.
Noticeable shifts also took place in the ways the girls wished to spend their time. Maddie and Emma both naturally took on more advocacy roles within the Pompe community. The girls and their parents went out of their way to meet as many other families with Pompe as possible. They have even expanded their connections into the broader world of muscular dystrophies.
Since 2010, the sisters have spent their summers at a Muscular Dystrophy Association (MDA) camp, a place that has taught them about equality regardless of ability. While speaking passionately about their camp adventures, most stories begin with words akin to, ‘because we can…’ similar to what Maddie says:
"[At camp] it doesn’t matter if you’re in a wheelchair or can walk. We are all very similar, regardless of what we can do [physically]. Because I can walk, I usually take care of younger kids who need extra help. I am treated more as a counselor than a camper. I don’t mind."
Following such a positive experience at the camp, Maddie and Emma increased their involvement with the MDA. Maddie was selected to be the 2012 Pennsylvania State MDA Goodwill Ambassador, a role that enables her to speak adamantly about the importance of supporting the development of treatments for diseases that have none.
She is also outspoken about the many ways in which having Pompe has helped to put her life into perspective.
"After dealing with something like this, you have a very different view on life. I started to notice how most of my peers were concerned with trivial things and that really started to bother me."
Maddie and Emma are both aware of how much Pompe has compromised their ability to lead normal teenaged lives. Emma is clear on choosing to remain positive:
"I feel like I have lost part of my childhood because of this. I like that I have this different view on life and am able to appreciate things more, but I haven’t had a lot of time to be a kid. Since we were diagnosed, I’ve grown so much as a person. Even if I had the chance I would never change it."
Stay connected to Maddie and Emma by following the Family’s Blog: Maddie's Mission
|
|
|
|
|
