We didn't have alot of time as I had a meeting before I met w Levi and a meeting after BUT he did a great job and was truly fun to chat with and an easy conversation. You know how sometimes people ask you questions and it just makes you sort of freeze up? I don't think I felt that at all while talking with Levi. I also think what he shared below really captured my story well, in a way i'm not sure I could have done.. I'm not sure what made me think of it but I said to him in emphasizing that MPS is just a part of my life (a big part but still just a part) that I live an 'abnormally, normal life'; meaning my nornal is definitely not what anyone else would consider "normal" but I don't think my life is bad and I am glad (I think) for all the experinces in a way that MPS has given me.
I think in some ways I have a unique outlook on life and even on some of the issues I deal with. I think having MPS has brought plenty of challenges but it's also given me many experiences that I in turn can use in other aspects of my life. I for instance indirectly find myself using examples from my 'MPS Life' while teaching my Sunday School kids and I feel MPS has really made me appreciate my faith. I also think it has given me a greater appreciation for just how caring some people are and the realization that in the medical field I am not going to see eye to eye with every doctor I meet nor is every Medical Doctor going to always agree with or believe me but that doesn't mean I am wrong and sometimes it doesn't mean they are wrong.
Usually (though not always) disagreement just means a lack of experience with whatever issue it is I am trying to find an answer for on my part and has taught me some pretty fierce tenacity (keep on keeping on till you do find that Provider who believes you/wants to help you/can see outside a stereotypical box).
I feel blessed to have had the opportunity to attend the LDN Mtng and to not only work for the Foundation I do, to have had the chance to talk to so many Researchers and to hear so much exciting research that is finally so close to fruition for MPS I pts. In addition to this and learning it was nice to be around other families and a friend who like me was a very (VERY!) late diagnosis and just share our frustrations.
I was a late diagnosis but Erin as crazy as it seems was actually not dx'd w MPS I till she was 38. I was able to help her some with issues that others helped me figure out when I was first diagnosed. I feel like living with this diagnosis continually reminds me it isn't about me and instead I feel like it's my duty in a way to help others by sharing what so many along the way have shared or taught me..
In general really it's just exciting knowing the research that has been talked about for so long finally seems like it is so much closer to actual patient access! I am grateful to Levi and his push to bring patients and our daily struggles in to a spotlight where medical professionals might better realize pts are not just a diagnosis BUT people first! There are so few adults with MPS I so it is genuinely nice that Levi by doing his photography and story telling will help Medical Professionals realize that many pts do not in fact have typical MPS I features but can still be significantly affected.. It seems particularly poignant that we did this shoot and storytelling just a few weeks prior to Rare Disease Day (tmrw Febr 28th) as perhaps our sharing my story, late diagnosis and mild features despite sometimes significant MPS involvement can help more Medical Professionals and Families realize ones look has little to do with how their disease may progress..
Below is what Levi shared based off the interview he and I did at WORLD prior to our photoshoot.
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Erica (and Levi, below)
Breaking the mold has always suited Erica well. She does not want to be fit into a box, or classified as part of a larger group. Even after being diagnosed with Mucopolysaccharidosis Type I (MPS I), she didn’t want her life to be forever defined by the disease. A disease so rare that only one in 100,000 people get it. “MPS is just three initials,” she proclaims. “I’m still Erica. I’m still a person.” Despite the rarity and severity of her affliction, Erica has spent more time developing her sense of self—to her, an equally important task—then letting MPS dominate her daily life. “Sometimes I feel there’s too much focus on the diagnosis instead of on the person,” she says. “And helping them become somebody despite that diagnosis.” The desire to find herself amidst the staggering amounts of doctors visits, weekly Enzyme Replacement Therapy (ERT) treatments, and regularly necessary surgeries, to some, might seem like a secondary issue. But to Erica, defining herself, and by virtue, helping others find themselves from within the turmoil of a rare-disease diagnosis, is perhaps the most important thing at stake. Within the MPS and Lysosomal Storage Disease (LSD) communities, Erica hopes to guide others to make similar realizations for themselves. “Just because you do or don’t have a name for what’s wrong with you,” she says. “it does matter, but it also doesn’t matter, because that isn’t who you are.” She doesn’t view her mission on earth as something with concrete goals, but rather, wants to move in a decisive direction, towards building a positive dialogue and understanding between MPS sufferer’s. “I just feel this passion to help others, especially other adults, realize that we do have these disorders, but that doesn’t mean that you still can’t have a life.” She is also dedicated to passing this message along through her involvement with Gene Spotlight, a Florida-based non-profit organization that helps spread awareness and research funding of LSD diseases, promoting grant funding opportunities for drug research, and connects with patients. “A lot of what I do is connect researchers to patients and patients to researchers,” says Erica. She also tries to help find funding so that individuals and families can attend LSD-related conferences or for other resources, a great way for people to find community and ways to cope with their conditions. Outside of the office or conference hall, Erica has found more public ways of supporting her cause. For the past three years, she has taken part in Running for Rare Diseases, which is sponsored by Genzyme and takes place at the Boston Marathon each year. Runners sponsor patients with rare-diseases, and a area is set up where the sponsored patients and families can cheer them on. “It’s huge this year,” states Erica. The first year there were only 15 runners, but now there are over 90 registered. "There have been many ways to get involved and raise awareness since diagnosis and it is just a way to feel like I am making a difference and to feel like despite MPS I can make a difference" As an adult with MPS, Erica also recognizes the importance of social tools, especially social media, when it comes to living a more normal life. “Facebook is like the medium for rare-disease people to find each other,” says Erica. “You meet a person, or a researcher and they connect you to other folks.” The connections that Erica has fostered as an adult are a testament to her undying positive attitude, and the high standards she holds herself to. She was diagnosed with MPS ten years ago, at the age of 21, which is relatively old for an MPS I patient. The diagnosis followed years of hardships that she faced as a child, when she was unsure of what was wrong with her. Throughout elementary school she was often faced with the fact that it pained her to try and do what everyone was expected to do, like write several paragraphs with a pencil, or even sit cross-legged. “Why can’t I do this, while other kids can do this?” she asked herself, frustrated. She suffered from intense headaches, that kept her home for much of first grade. “As a kid you don’t know that that’s not normal so you don’t say anything to anybody,” recalls Erica. Her issues were multiplying though, and not getting better. “My headaches just kept getting worse and worse as I aged.” Her vision was suffering too. Her heart wasn’t working correctly. She needed carpal tunnel surgery. She started seeing more specialists for the myriad of health problems that arose with many diagnosis tested for and ruled out. It took quite a while, but around the time she turned 20 she started seeing a congenital cardiologist, who first proposed that she might have MPS. Several months later she was officially diagnosed. Despite the long time it took her to get a proper diagnosis, Erica never let adversity get in her way of doing what she wanted to do. “Even though I had all these issues as a kid, and it frustrated me that I wasn’t diagnosed, In a way I’m kinda glad that I wasn’t, because I think in a way I was able to have a relatively normal childhood. I mean yeah, I didn’t feel great, but I worked part time, I did a few sports, I graduated high school…” Upon being diagnosed Erica quickly transitioned into getting regular ERT treatments and began to get more operations to correct some of the damage the disease had caused in her organs. To deal with her headaches she had to get two shunts; a ventriculoperitoneal and a thoracic pleural shunts surgically implanted to deal with what turned out to be hydrocephalus. Since the implants, she’s had about 35 surgeries to deal with the shunts but believes it’s worth it. “The difference with the shunts is night and day, while imperfect it's better than it was before this” says Erica. She has also had open-heart surgery twice to repair a bad aortic valve and will face replacement of her mitral valve in the future, but also feels she made the right decision. In total there have been 60 or so surgeries as MPS affects virtually all organs, joints and body systems but these to are just a small part of life with this disorder and who she is. Working with the medical system comes with an incredible knack for showing patience, and the complications can drive some to the brink. Staying true to form, Erica has waded through the most difficult of circumstances only to come out stronger. Now, she wants to find and maintain a healthy balance, both mentally and physically. “Sometimes I’m so busy thinking about what’s tomorrow or what’s in the future, that I’m not really enjoying what’s going on today,” she says, reflectively. With so much new research and advocacy for MPS patients, of which Erica is bound to be involved in, it can be hard sometimes not to think about the future. Well, surely she’ll be taking it day by day.
