1) Introduce yourself – Who are you, where are you from and a bit about yourself.
Hi, I’m Mandy! I live in California, USA, with my husband, daughter, dog and lizard (it’s a bit of a zoo around here). I would describe myself as a creative geek who loves sewing, painting, cosplay, tabletop games, singing and acting. I’m not able to work full-time anymore, but I still freelance as a graphic designer and voice over artist. I also screen manuscripts for a publishing company.
2) What illness/condition/disability do you have? When did your symptoms start? And what were they?
I was born as an arm amputee, but that’s probably the least of my concerns! I began having symptoms of Gastroparesis and a Mitochondrial Dysfunction right after giving birth to my daughter seven years ago. Initially the symptoms were occasionally vomiting and having serious fatigue, but both me and the doctors initially dismissed those symptoms as results of sleep deprivation with a newborn. It wasn’t until she was finally sleeping great and the symptoms were getting much worse that anyone took me seriously.
3) What was it like getting a diagnosis? Were doctors good/bad? Were you taken seriously? Did it take a long time?
Getting a diagnosis was a complete uphill battle. I had been bringing up a whole list of random issues to my doctors for years, in addition to the vomiting and fatigue. I didn’t sweat, I found myself overheating extremely easily, I occasionally fainted, I had migraines and insomnia, my bowel habits were erratic, food wasn’t digesting, I was eating an extremely healthy/restricted diet and was still having wild weight fluctuations and pre-diabetic glucose levels.
My symptoms were always considered as individual problems rather than a systemic dysfunction, and because individually they were not especially serious, they were dismissed. Even the vomiting was not taken seriously until I ended up in the hospital for five days vomiting blood. Then they finally took my vomiting seriously and diagnosed me with Gastroparesis. That’s what led to the doctor suspecting the Mitochondrial Dysfunction, though because my insurance refuses to pay for the test or genetic counseling, I still do not have an “official” diagnosis of the disease, which is very frustrating. But I did take a DNA test out of my own pocket to confirm that I do have the genetic marker for the disease, just for my own peace of mind.
4) Had you heard of your illness/condition/disability before you were diagnosed?
I had heard of Gastroparesis because my younger brother also has the disease. When both of us were diagnosed, the doctors were initially baffled because it is typically not a genetic disease, and we had none of the issues that normally cause the disorder. But that link is what finally led one great Gastroenterologist to do more research and discovering the possible Mitochondrial Dysfunction.
I had never heard of it before, but ALL of my weird, random symptoms were explained by the disease! It’s always passed down from the mother’s side, and when I talked to family members, it turns out several of us had symptoms of the disorder that had been dismissed for years.
5) How did you feel when you were told your diagnosis?
At that point, I just felt relieved to have a name for it. It took seven years of struggling to come up with an answer. I believe that knowledge is power. Being able to finally take charge of my own health and research the best way to take care of myself was empowering.
6) What treatment did you have? Were there any problems? Did it help?
Unfortunately, I have two diseases with very limited treatment options. For the Gastroparesis, there is no medication approved by the FDA in America. Some doctors will help you get medication from Europe, but it’s a tricky process. Right now I am on a medicine that does help move things through my stomach a little faster, but it’s not helpful when my stomach stops working all together.
The only known treatment for Mitochondrial Dysfunction is supplementing with a cocktail of vitamins, amino acids and antioxidants. They’re all over-the-counter medications, which is partially why insurance has no interest in diagnosing. That means it’s all coming out of my own pocket right now. The supplements have helped a lot with short-term recovery. However, the nature of the disease means I always have to be careful not to get myself so worn down that the disease makes a new step of progression that I can’t come back from.
7) Did family/friends/colleagues take it seriously? Did they support you?
I think most people take it seriously when I have told them, especially when I tell them that it can lead to more debilitating issues if I don’t take care of myself and do my best to keep it under control. But I also always keep a smile on my face and don’t complain about anything until I’m deathly ill, so I think it’s easy for people to forget that I’m sick. The biggest struggle has probably been with my family, as it can be a difficult transition to have to start taking care of a spouse with an illness, especially one that can vary in severity from day to day. We’re still working on how my husband can be more proactively helpful with my illness, as well as how I can be more vocal about my needs.
8) How does your illness/condition/disability affect your life?
I don’t think there’s any area that this doesn’t affect my life! I had to quit my part-time office job last year because I would never know when I was going to have a bad day and not be able to go into work. Or I would go into work anyway and set myself back to the point I couldn’t take care of my child later.
I’ve had to really slow down on social events and start majorly planning out my weeks. If I really want to do something, I have to make sure I have several days of rest before and after so I don’t get sick. If anything unexpected comes up, or even if I have a few days of bad insomnia, it can really throw me off and force me to cancel plans. This is something which is something I hate to do. I have to go to bed really early as well, which means I don’t have any child-free time with my husband. I try to devote my “good” time to my daughter, but that means a lot of my hobbies get pushed to the side for now.
9) What is something you wish people knew about it?
I wish people knew how hard I really have to work to put on a happy face. That when I spend time with them, I literally planned my whole week around them. I wish they were more understanding that I usually can’t be spontaneous. If I have to cancel plans, or turn down an event, it doesn’t mean I wasn’t really looking forward to it. I wish they knew that even when I “look” healthy, that I’m still frustrated with my body and know that a good day could end at any minute.
10) Anything else you’d like to share about it or your experience?
I’m really thankful for the power of social media and the knowledge available online. This illness would have been a lot more difficult if I hadn’t found a community of people who understand the challenges and are able to offer advice and support when I’m having a rough time!
If you’d like to follow Mandy on Instagram you can find her here: @mandypursley
