Ricki Lewis

Oct 12, 2012 8:27 AM EDT

Hi Ricki,
Im not sure you will get this or if this would even be in your radar but would you consider doing a blog on MPS I attenuated forms (I have hurler scheie or more likely Scheie form mucopolysaccharidoses type I) and the neurologic issues specificall hydrocephalus that go with this?
It is not well enough known that the ventricles typically do not enlarge in MPS I pts, alot of drs rely solely on mis-leading MRIs and not on opening CSF pressures and too many patients with my particular form are told they do not have to worry about neurologic issues much less hydrocephalus at all.
I now have 2 different shunt systems (LP and VP shunts) and although I had alot of the typical MPS I symptoms as a kid (hernia, carpal tunnel, stiffened joints, heart issues, etc. I also did not have other more typical features like the bent/stiffened clawed fingers. I wasnt diagnosed until age 21.
I know the neurologic aspects may be out of your area and maybe even MPS I isnt one of your specialties but it seems worth asking! My neurosurgeon and I where just talking about how more information needs to be put out there and shared on these not well understood issues. :)

I loved your book!

Erica
www.rarelydefined.blogspot.com

- Erica Thiel

Oct 12, 2012 8:36 AM EDT

Hi Erica! Thanks so much for getting in touch. The human genetics meetings are coming up and I will now be on the lookout for your condition. I'd love to blog about it. Can you send me an email? rickilewis54@gmail.com THANKS!

- Ricki Lewis