Blog

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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How do you grieve? I cut myself out of a tree.

Posted Friday January 23, 2015 by Melissa

After Case was diagnosed in 2009, I pulled a lot of weeds....

After Case was diagnosed in 2009, I pulled a lot of weeds. I pulled thorny weeds, I pulled grassy weeds, I pulled weeds in the hot sun, but I especially...

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It’s the little things… in sterile fields

Posted Monday January 19, 2015 by Melissa

When your child has (or you have) a central line catheter like...

When your child has (or you have) a central line catheter like a port-a-cath, sterile procedure is never something you take lightly. But we as parents generally haven’t gone to...

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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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Thoughts and Thanks on the Director’s Award

Posted Saturday December 20, 2014 by Melissa

Last night I was incredibly honored to receive the Director’s Award from...

Last night I was incredibly honored to receive the Director’s Award from the National MPS Society at the 28th Annual Family Conference. Barb Wedehase, the society’s Executive Director, offered such...

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A Letter to the “Before” Me

Posted Monday November 24, 2014 by Melissa

Dear “Before” Me, You don’t realize that you’re living in the before....

Dear “Before” Me, You don’t realize that you’re living in the before. That’s okay. In fact, that’s wonderful. Life is beautiful right now. Busy, but beautiful. Your children are always...

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Forgetting, and not

Posted Wednesday November 12, 2014 by Melissa

Four years ago, we had a book of photos of family members...

Four years ago, we had a book of photos of family members that was used as part of Case’s IEP. We didn’t want him to forget who the people were...

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I am Her, She is Me, We are We

Posted Friday October 17, 2014 by Melissa

Rare disease parents need each other. We depend upon one another. One...

Rare disease parents need each other. We depend upon one another. One of the first pieces of advice I give newly diagnosed families is to find your person, that someone...

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Who is Smart Enough for a #RareDisease Clinical Trial?

Posted Tuesday October 14, 2014 by Melissa

The Phase II/III Shire intrathecal idursulfase clinical trial requires a child to...

The Phase II/III Shire intrathecal idursulfase clinical trial requires a child to test between a score of 55 and 85 on the DAS II neurocognitive assessment (essentially, an IQ test)....

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Commentary: 6 Ways Social Media Affects Your Clinical Trial (whether you like it or not)

Posted Monday October 06, 2014 by Melissa

It's an understatement to say that social media has had an impact...

It's an understatement to say that social media has had an impact on almost every aspect of rare disease, as well as many common diseases. From patients being able to...

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Speaking of the Orphan Drug Market….

Posted Monday September 29, 2014 by Melissa

Sometimes I like to think that we’re making progress in the rare...

Sometimes I like to think that we’re making progress in the rare disease community. The “we” being the collective we  – the interconnected and interdependent rare disease community that involves...

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Melissa at 2011 MPS Family Conference

Why did I wear the beads?

Posted Saturday September 13, 2014 by Melissa

I’ve had several people comment about the beautiful blue beads I’ve worn...

I’ve had several people comment about the beautiful blue beads I’ve worn around my wrist each day at the Global Genes patient advocacy summit. I doubt they considered that they...

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Participating in a Clinical Trial: an Interview with Melissa Thomas

Posted Friday August 29, 2014 by Melissa

Recently I had a conversation with Melissa Thomas, a mom to two...

Recently I had a conversation with Melissa Thomas, a mom to two boys with Hunter Syndrome. Her son Nathan passed away from the effects of the disease about five years...

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Immune Tolerance to Enzyme Replacement Therapies, Part 3: FDA/NORD Workshop on the Role of Immune Tolerance Induction

Posted Wednesday August 27, 2014 by Melissa

Immune response is one of the most important issue in enzyme replacement...

Immune response is one of the most important issue in enzyme replacement therapy today. At least it is to many patients. That’s why I’ve waited several months to publish this...

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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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A Diagnosis Story

Posted Monday July 14, 2014 by Melissa

Every child or adult with a rare disease has a diagnosis story....

Every child or adult with a rare disease has a diagnosis story. Some are long and traumatizing, some are short and miraculous, and some are just so very sad, replete...

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Immune Tolerance to Enzyme Replacement Therapies, Part 2: Idursulfase

Posted Tuesday June 17, 2014 by Melissa

In Part 1 of this series, I explored some of the background...

In Part 1 of this series, I explored some of the background concepts related to immunogenicity. Now let’s begin examining immunogenicity in the context of a specific example – idursulfase...

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Right to Try? More like redundant begging.

Posted Monday June 16, 2014 by Melissa

Colorado’s “Right to Try” law has made headlines over the past months,...

Colorado’s “Right to Try” law has made headlines over the past months, prompting questions in my circles about whether it could help our rare disease families. First, let me note...

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Immune Tolerance to Enzyme Replacement Therapies, Part 1: Background on Immunogenicity

Posted Friday June 13, 2014 by Melissa

It would not surprise me if many of you reading this have...

It would not surprise me if many of you reading this have never heard of immune tolerance induction. That may be, in large part, because prior to the last two...

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