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.

Friday, June 6, 2014

The Myelin Project


My sister in law told me about the movie Lorenzo's Oil.

From the website:
The film is based on the true story of Augusto and Michaela Odone and their son Lorenzo. In 1984 Lorenzo came down with adrenoleukodystrophy (ALD), a rare inherited disease. Doctors said that he would lose all his functions and die within two to three years. Refusing to accept this grim verdict, the Odones set out on a mission to find a treatment for ALD and to save their child (Lorenzo survived, and is now 25 years old). In their quest for a treatment the Odones often clashed with doctors, scientists, and support groups, who were skeptical that anything could be done about ALD, much less by laypeople. Their relentless struggle tested the strength of their marriage, the depth of their beliefs, and the boundaries of conventional medicine.

The Odones haunted medical libraries, reviewed countless animal experiments, badgered researchers, questioned top doctors all over the world, and persisted until a solution came to them in a moment of inspiration. They commissioned a special type of oil from a British firm, which normalized the accumulation of very long chain fatty acids in the brain, the hallmark of ALD.

The film ends on a positive note, showing several healthy children who, having followed a course of treatment with Lorenzo's Oil, remained symptom-free. The conclusion relates that Lorenzo can communicate again by a modified sign language, and that Augusto Odone was awarded an honorary Ph.D. for his pioneering work in researching and discovering a significant treatment for ALD.

In the second chapter of the story, the Odones founded The Myelin Project in the hope of finding a way to restore the myelin sheath, which is destroyed in ALD and a host of other myelin diseases, such as multiple sclerosis. If this vital substance can be restored, patients like Lorenzo may regain function and eventually lead a normal life. 

A good friend of mine has just been diagnosed with MS after a very quick functional decline.  I feel deeply for her and it has plunged me back into researching what is currently being done and available.  Oh, how many of us would be blessed if myelin regeneration possibilities can be discovered.  It is hopeful and I plan to look in on their progress often.  I thought you might like to know about The Myelin Project and what they are doing to help or even get involved.

While The Myelin Project has taken the conventional steps to advance remyelination research, we have taken the unconventional step of encouraging direct interaction between families and scientists, we continuously remind the scientists that there are people waiting for effective treatments. 

Research has been focused on efforts to understand mechanisms of myelin repair, with a view to discovering therapies that will permit restoration of damaged myelin. It is anticipated that these will permit at least partial restoration of function in patients suffering from myelin loss.