Over 7,000 Rare Diseases

There are over 7,000 Rare Diseases. While each of the 7,000 diseases may be rare, when you add them all up they affect 30 million Americans … 30 million Europeans … 350 million around the globe … 1 of every 10 people have a Rare Disease. Most of the muscular dystrophies are rare … cystic fibrosis is rare … many cancers are […]

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Mld Family Conference™ – Register Now!

Registration for our 2105 MLD Family Conference in Newark Delaware is underway and closes in just a couple of weeks.  If you are a MLD Family we’re anxious to have you register. Many of your MLD Family will be there to meet, share, and socialize with. Please bring your MLD loved one with you – we not only want

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Report from FDA PFFD IEM meeting

Great Patient Focused Drug Development (PFDD) meeting at the FDA Tuesday discussing patients perspective on the neurological inborn errors of metabolism (IEM). Dean Suhr, president of the MLD Foundation, spoke on the second panel of the day and was able to both share and stir the pot a bit with regard to some of the patient perspectives on

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Are normal enzyme levels enough to stabilize MLD?

A very interesting question came up today on the MLD Family Discussion List™ (a private list we run for MLD primary caregivers).  I thought it might inspire some thinking so I am sharing my answer here as well: I have a question and I don’t know if anyone has an answer but I am wondering if anyone

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Changing a G-Tube (Gastric Feeding Tube)

Changing a gastric feeding tube also known as a g-tube (sometimes gastrostomy tube), is an area of uncertainty that always seems to generate questions among the MLD Family.  Since there is nothing unique about MLD with regard to g-tubes so I though I would share a series of photos to help anyone who want to know

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RARE Patient Advocacy Summit – 2012

I was pleased to be the organizer and host for the RARE Project | Global Genes RARE Patient Advocacy Summit on September 29th, 2012. The day-long event with 140 in attendance and over 120 viewing via a live webcast.  Videos of the event are available below for viewing.

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List of Rare Diseases

This list was prepared using data supplied by the NIH’s Office of Rare Disease Research in late 2011. Please note that your medical providers and insurance payors probably have their own lists of diseases they think are rare – this list is for quick reference only.  Quick Jump: A B C D E F G

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