Mucopolysaccharidosis Type 1
5/12/2009 12:56| More
This is myself - I do not have all of the facial features of MPS I, although the ones that are there are what helped diagnose me - basically you just have to fall into the hands of the right specialist who recognizes, 1, 2 or more of your symptoms and features. I was diagnosed at a very late age for MPS I (21 am now 26) and went through 10 or more years searching for a diagnosis this not including the specialists I seen as a child and surgeries I had which where never all 'related' to one thing.
My wish is to raise awareness of MPS I Scheie syndrome and help to educate specialists in these orphan diseases that many patients are going un-diagnosed and un-treated due to specialists not knowing all the 'seemingly not related' symptoms patients have very possibly can be either my lyso disease or that of another of these life limiting, lifde altering diseases.
My wish is to continue to have specialists listen and not under-value what we as patients say and to help raise awarenss of especially MPS I either through speaking engagements or sharing what to look for. Thank you, Erica www.caringbridge.org/wi/ericathiel 920.763.4633 firstname.lastname@example.org