Growing up "healthy", learning your not..

Growing up I was "healthy" I mean sure even as a kid and as early as kindergarten and 1st grade I noted the little things other friends and classmates could do that I couldnt do (jumping jacks w straightened arms/elbows, sitting indian style for instance) but I still played the same games, ran and biked and skated, (albight more clumsily but hey, I was a klutz!) :) played war, climbed trees, climbed the hill to sled behind our house, etc. I did the same school work as my classmates, and struggled in some classes, excelled in others (math, english). In other words I didnt know I was sick and for that I am actually grateful!

Sure I had a few surgeries (tonsils, adenoids, ear tubes, hernia and as a teenager carpal tunnel releases on each hand) and saw a Cardiologist on a yearly basis first at UW and later at Dean Medical Center but still I wasnt that different, I didnt know I was different. I was self-conscious of my "outie" belly button; my friends thought it was "soo cool". I was self-conscious of my stomach which was never flat so I wore shirts over bathing suits. I got severe headaches to which I came home from school it seemed often sick to my stomach and vision issues, and stomach aches to which I swore id never eat again and which I never understood bc I never knew anyone else who had the same "awefulness".

Later as a teenager I did sports (mostly grade school and mostly goofing around w/my friends) and I had a job first at the grocery store and later as a waitress and every morning id wake up exhausted and wishing I could just sleep in, id sludge through the day, wish the work night was over (usually 4:30 or 5 till 9 and sometimes 10 at night) tired and wishing for the weekend so I could sleep in a little more. My body ached something fierce those long days and nights at work on my feet the whole time but I didnt really know that everyone didnt feel that way because I had always had pain and discomfort when id be on my feet for more than a short while even as a kid. Anything was a possible chair, counters, floors, buckets, etc for just a minute or two!

It wasnt really until I was 15 or 16 that I started to really notice big changes and maybe it was I had my license and car by that time so I wasnt biking and walkiing to work and school everyday and so probably even less in shape although I was always small in size. I think it started w the carpal tunnel symptoms getting much, much worse (i'd had the tingling and numbness even in grade school when id write for long periods) and when I saw my PCP she sent me to a local Neurologist who did testing, confirmed it was CTS, noted other "oddities" and sent me on to a Orthopedic dr. who noted more things and from there to a Hand specialist, another 2 Neurologist, repeated more in-depth testing, they all scratched their heads and didnt know what was causing all the unusual symptoms and features. From there it was a Genetics team, Peds Rheumatologist, Opthalmologist and other specialists over about 1 1/2 yrs.

During all this time I did know there was the odd things as mentioned above and I had further cardiac changes which werent expected (from what id understood) and eventually after so many drs., so much testing and no real answers my parents just said it was enough and we circled back to the original Orthopedic dr and I had carpal tunnel surgery as a teenager (the first of many of these surgeries) and in a year or so after graduating and working as a CNA while going to a local Tech College I wound up with a difference PCP and began the lovely task of looking for a new Cardiologist.

Some further issues and drs and I wound up at CHW where I am now for Cardiology care and within a few months I had a underlying diagnosis (MPS I H/S and enzyme deficiency disorder - www.rarelydefined.blogspot.com) and a few months after that a treatment that literally changed my life. ... I used to think id have wanted to be diagnosed as a kid but I honestly dont know now; sure I knew I had differences but how much different would my life have been and how many less experiences would I have had (would I have done the goofy sports I did (I say it like that bc like I said I did it more to hang out w friends and less about the running although that was ok to!) :) or would I have worked and thus been able to buy a car like I did and most especially would I be as independent about my very complex care as I am today if I had grown up knowing I really was very uniquely different? Im not sure id be having the experiences I do now if I didnt first have a 'pretty normal" life, experiences which have included working directly with the Pharmaceutical company on patient advocacy, traveling more in 7 yrs than I did in 21 yrs before... Would I have worked w/in Pain Advocacy bc of the direct experiences I had with pain mngmt and having to fight for my care with this? And would I be as involved in something like WI-ACHD if someone else knew I had something as a kid and did all my care arrangements then so I probably wouldnt have just jumped in and done most of it now? I love the job I have (who can argue with working in rare disease advocacy, directly affecting research and the researchers in their tudies for ones disorder before the research ever goes beyond the bench and animal testing? Getting paid extremely well for doing this said job and loving it and knowing you'd do it for free just to be a part of changing the face and future treatmetns of your own disease?

I dont know I think sure if I was dx'd as a kid maybe id have less symptoms now (who knows there arent a lot of us adults and even less w my specific symptoms) and maybe id still be doing all the same things but im not sure id go back and do it over if given the chance to be dx's earlier w the possible chance of less symptoms as an adult. :)

Please share your story of ACHD or in some others case living with an underlying diagnosis that caused/is causing changes you'd never expected as a kid when thinking of "what I want to be or who I want to be whwn I grow up...

Erica
MPS I w/as a result secondary ACHD issues.