Living with ACHD and rare disease

Hello All, I have a bit of a more meandering story but have been seeing Dr.Earing since he first started seeing patients at CHW-HHC. The only reason I found him so quickly was that previous spring I emailed the HHC clinic administrator to see if there was anyone he recommended for my issues and he told me about this new dr coming to HHC from his fellowship at Mayo in Rochester. I have been a patient ever since and see him now every 3-6 months, typically every 6 months with repeat Echo's. To back up a bit though I was diagnosed with what was thought to be congenital aortic valve disease at age 3-4 and originally saw a Peds Cardio at UW Hospital in Madison and then in high school switched to a Peds Cardiol (when my insurance changed) at Dean Medical Center also in Madison and saw Dr.Weinhaus for the next 4 years. As I aged out of that he wasnt kidding when he said it was a diffeent world in the adult Cardiology land and began to look for someone who was a good 'fit' for my care team. I also per Dr.Weinhaus was seeing many different specialists including Peds Neurologists, Rheumatologsts,several types of Otthopedic drs., a Ortho Hand dr., Opthalmology, a Genetics team at Waisman center at UW and other drs as no one could figure out 1. why I had carpal tunnel so severely at such a young age and 2. why I had other 'peculiar' symptoms and changes such as mitral valve changes, facial coarsening, joint stiffness (present from a very early age), a previously treated herna, and a host of other unexplained issues that each of these drs suspected all tied in to a larger underlying problem. In a period of 1 1/2 yars while in high school I saw 6-10 different specialists all while each specialist would frequently test for one issue or another and frequently add new 'little' peculiarities to my chart. Right after graduating I ended up having carpal tnnel releases on each hand anyways although alot of permanent damage was done to the nerves and thenar muscle(s) in each hand. Fast fwd after graduating I moved to the Port Washington area while going to school near Sheboygan and initially saw a Adult Cardiologist at Columbia St.Mary's and an Electrophysiologist out of a sister hospital. A year-ish later I was having quite a bit more problems with alot of symptoms that where either cardic or autonomic related in addition to other unexplained issues and this is when I contacted the clinic admin at CHW-HHC. The end of august/beginning of sept 04 I first saw Dr.Earing and I believe it was the 3rd appt with him in Nov that he and I sat down and he laid out what he thought I had that explained my symptoms from the cardiac issues to issues I had as a child up till now. Needless the dx was a shock and I remember his telling me about it and saying he didnt know which type I had and was sending me to Genetics at CHW. I of course like any sane patient went home and began researcing the diagnosis. A little over a month later I saw Genetics, the blood and urine tests where done and it was confirmed I had MPS type I (mucopolysaccharidoses type I Hurler Scheie Syndrome). 3 months later I started the enzyme replacement infusions at CHW and except for occassional missed doses I have been getting this infusion every week over 4-5 hours at CHW for close to 7 yrs now. Since that time I have had atleast 2 dozen surgeries and procedures for repeat carpal tunnel, a thenar tendon transfer (repair) shunt surgeries and revisions (12 this year alone for shunt), repeat hernia, cervical spinal decompression and laminoplasty, lumbar nerve root decompression and a host of other surgeries. Cardiac wise we are trying to put of valve replacements for as long as possible as it will be both mitral and aortic valves replaced and because of my underlying disorder and the storage that would re-accumulate from the MPS in any bovine valves we will have to do mechanical valves with subsequent coumadin. Due to severe narrowed airway and difficulty with anesthesia and underlying autonomic issues + neuro-endocrine (cortsol deficiency w/chronic daily steroid) and restrictive lung disease the surgery will be hard on my body and potenitally dangerous. At this point my valves are moderate stenosed and leaking and atrium is seveely dilated so I know we face surgery in the future but on-going shunt issues have required many surgeries and frankly I have no desire to have my chest cracked open. Even having my neurosurgeon fiddling around inside my brain and fiddling with + repairing my spinal nerves doesnt make me blanche like the thought of a cracked chest. At one point 4 or 5 years ago Dr.E and I had went to a ACHA Lobby day in DC and I also have done cont'd advoccy work as a Patient rep for the Pharma co that makes my weekly infuson drug speaking at their facility in Boston several times as well as managing projects together geared to identifying the un-met needs of Adult with MPS I. I also do Pain advocacy work with the American Pain Found and through this travel to meetings, work directly with hospital pain depts, and with patients experiencing chronic pain who are looking for help in getting proper care. For more info about myself I do blog at the website below: Erica www.rarelydefined.blogspot.com