Posts tagged with rare-disease

5 Things to Tell Your Kids About World Rare Disease Day

Posted Monday February 29, 2016 by Melissa

In my dreams, kids go to their parents on the last day...

In my dreams, kids go to their parents on the last day of February (today, February 29th) and say, “Mom, what’s a rare disease?” They’ve heard the phrase on the...

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Do you ever wonder why rare disease parents spend so much time on the phone?

Posted Monday February 01, 2016 by Melissa

I’ve recently had several billing problems with my son’s specialty pharmacy. This...

I’ve recently had several billing problems with my son’s specialty pharmacy. This is not uncommon in rare or chronic diseases. Pharmacy problems. Insurance problems. Phone calls. Documentation. Repeat phone calls....

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Do you ever wonder why rare disease parents spend so much time on the phone?

Did it Go Far Enough? FDA Issues Draft Guidance on Rare Disease Drug Development

Posted Saturday August 15, 2015 by Melissa

Yesterday, the FDA issued draft guidance on common issues related to rare...

Yesterday, the FDA issued draft guidance on common issues related to rare disease drug development. It is another importance event in the shift of thinking about how drugs are developed...

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#RareDisease Tweet Chat, hosted by MassBio

Posted Thursday February 19, 2015 by Melissa

Twitter is my favorite social media tool in the rare disease community....

Twitter is my favorite social media tool in the rare disease community. Through Twitter, I’ve met other advocates, engaged in advocacy and awareness efforts, and developed a better social media...

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The “Curse” of Rare Disease

Posted Monday February 09, 2015 by Melissa

Our children don’t have to have the same rare disease for parents...

Our children don’t have to have the same rare disease for parents to relate to one another. One moment we had a wonderful child… and the next moment, he’ll never...

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Storify on Venture Philanthropy – Greed or Game Changer

Posted Wednesday January 07, 2015 by Melissa

One of my favorite ways to engage on all things rare disease...

One of my favorite ways to engage on all things rare disease is on Twitter. It’s as easy as typing in a hashtag (#) of your interest – for me...

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Rare Disease Clinical Trial Recruitment – What’s the Holdup?

Posted Monday July 28, 2014 by Melissa

For some parents, as soon as their child is diagnosed with a...

For some parents, as soon as their child is diagnosed with a rare, progressive disease, the first thing they do is research whether there is a cure, a treatment, or...

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AbbVie and Shire – A Rare Match?

Posted Saturday July 19, 2014 by Melissa

Ever since AbbVie’s initial approach to Shire became public, our Hunter Syndrome...

Ever since AbbVie’s initial approach to Shire became public, our Hunter Syndrome community has been watching and waiting. We’ve always known Shire was a candidate for an acquisition, although its...

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New shirts have arrived!

Posted Wednesday March 12, 2014 by Melissa

Just in time for Case’s 7th birthday today, the new Saving Case...

Just in time for Case’s 7th birthday today, the new Saving Case & Friends T-shirts have arrived! Visit the gear page to order today and raise awareness for any rare...

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Rare disease awareness shirt

What proof does the FDA want in a degenerative disease?

Posted Thursday January 16, 2014 by Melissa

Here is an example in Duchenne MD of why I spent last...

Here is an example in Duchenne MD of why I spent last week at the FDA. In a degenerative disease, if a drug can maintain abilities, why do children have...

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Is there a formula of risk tolerance to treat rare diseases?

Posted Monday January 06, 2014 by Melissa

What risk would you take with your child’s life? What if the...

What risk would you take with your child’s life? What if the treatment had a 25% chance of death or serious injury, would you risk it? The willingness of patients...

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Formula for assessing risk tolerance in rare disease

Rare Disease Book Review: Brain on Fire

Posted Tuesday September 17, 2013 by Melissa

Brain on Fire is the extraordinary story of an ordinary woman. Susannah...

Brain on Fire is the extraordinary story of an ordinary woman. Susannah Cahalan was an ordinary woman who was in the midst of living her life as a New York...

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Brain on Fire cover

Media: Mucopolysaccharidosis and Other Rare Disease in the News

Posted Monday May 13, 2013 by Melissa

My friends Jill Wood (an MPS IIIC mom), the Leider family (with...

My friends Jill Wood (an MPS IIIC mom), the Leider family (with two MPS II boys) and I were incredibly blessed to be involved in a project by Lisa Jarvis,...

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The Systemic Impact of Rare Disease: Medical, Emotional, Financial, Social

Posted Tuesday April 09, 2013 by Melissa

Rare diseases may seem like solely a health care issue, but in...

Rare diseases may seem like solely a health care issue, but in fact, a newly released report finds that their impact is much more systemic, affecting the health care system...

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US rare disease infographic

Why I Fear the Bubble, Part 2: A Crash at the Intersection of Personalized Medicine and #RareDisease Research?

Posted Thursday January 10, 2013 by Melissa

For Part 1 of this series: Why I Fear the Bubble, Part...

For Part 1 of this series: Why I Fear the Bubble, Part 1: The Pricing of #RareDisease Drugs —————- One thing I took away from the World Orphan Drug Congress...

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Orphan Drugs Launched 2002-11

Why I Fear the Bubble, Part 1: The Pricing of #RareDisease Drugs

Posted Saturday January 05, 2013 by Melissa

NPS Pharmaceuticals just this week priced their drug for short bowel syndrome,...

NPS Pharmaceuticals just this week priced their drug for short bowel syndrome, Gattex, at an annual cost of $295,000 per patient. This price may not raise too many eyebrows among...

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Reversal of Fortune? Where Profits and Patients Collide

Posted Monday April 09, 2012 by Melissa

The rare disease world, and especially the non-precisely-defined ultra rare disease world,...

The rare disease world, and especially the non-precisely-defined ultra rare disease world, is a small one. You know the players. You meet over and again. Your pharma company knows your...

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Upcoming e-book release!

Posted Friday March 30, 2012 by Melissa

I am so excited about next week’s release of my e-book Calmer:...

I am so excited about next week’s release of my e-book Calmer: Medical Events with Cognitively Impaired Children. This e-book started out as a response to an e-mail, then became...

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Rare Disease Leadership Summit

Posted Tuesday July 26, 2011 by Melissa

Recently, I was blessed enough to attend the 6th Annual Rare Disease...

Recently, I was blessed enough to attend the 6th Annual Rare Disease Leadership Summit in Washington, DC. If you’re interested, you can download the agenda to review. Also, yesterday the...

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White House