Tuesday, June 10, 2014
MDA Website and HNPP
MDA is a wonderful organization and as you know my daughter who has HNPP has been included in their annual MDA camp which she just loves. They have a great website with information and resources for the diseases included in their association, however, I have yet to see HNPP listed. When we were first diagnosed I was told that HNPP was similar to most forms of CMT as they both involve the PMP22 gene, CMT is a duplication and HNPP is a deletion. Most recently our neurologist says it is now categorized as a subtype of CMT. However, I have never found HNPP listed alone or under CMT on the MDA website. As you are also aware there is so little information available anywhere, even on the web, that this lack of mention is important to me.
I wrote the following letter to the MDA in regards to their website:
My daughter has been diagnosed with HNPP (Hereditary Neuropathy with Liability to Pressure Palsy). She is under the "umbrella" of MDA as our neurologist put it and it is very closely related to CMT. There is so little information available and so few doctors that have even heard of it. I tell people it is categorized under Muscular Dystrophy because they don't know what I am talking about. When they or we go to look it up on your website, it isn't listed. There aren't even pamphlets available from any of the doctors so we turn to the web and scour for any information we can glean. It is disappointing to not even be listed on the MDA website. CMT is but not HNPP. There is an article or two in Quest magazine that your website links to mentioning it but we need some meat, some real information and attention given for at least those suffering from this disease. Will you please include some collected information on HNPP and include this disease on your list as we are supposedly a part of it. Thank you so much. It is difficult to be part of a disease so rare that we have to teach our local doctors and therapists about it when we ourselves know so little. Thank you again
I will let you know if I hear back or if anything changes on the website.