Posts filed in Treatments

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?

Inside a Rare Disease Clinical Trial – #HunterSyndromeLive

Posted Sunday February 22, 2015 by Melissa

Since 2011, once a year, Case Hogan travels to Chapel Hill, NC...

Since 2011, once a year, Case Hogan travels to Chapel Hill, NC for an annual clinical trial visit. It is 11 days of travel, physical testing, cognitive testing, infusions, procedures...

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Inside a Rare Disease Clinical Trial – #HunterSyndromeLive

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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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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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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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

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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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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Flexibility + Medical Trauma + Miracles = Clinical Trial

Posted Wednesday April 02, 2014 by Melissa

Not all clinical trials are the same – some involve just a...

Not all clinical trials are the same – some involve just a single blood draw, or interview, or procedure. But others, like the MPS II intrathecal trial, are very demanding,...

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#SaveJack, #BeBrave

Posted Friday January 17, 2014 by Melissa

I’ll never feel okay about kids dying. Never. And I’ll surely never...

I’ll never feel okay about kids dying. Never. And I’ll surely never feel okay about my best friend’s son dying. But in the whole convoluted process that is drug discovery,...

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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

For Jack

Posted Sunday December 01, 2013 by Melissa

There aren’t really words to describe what Jack means to me. Besides...

There aren’t really words to describe what Jack means to me. Besides Case, Jack was the first boy with Hunter Syndrome that I met. His mom, my friend Jamie, welcomed...

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OPEN LETTER to Dr. John Leong Chi-yan and the Hong Kong Hospital Authority re: Access to Idursulfase for the Tang brothers

Posted Tuesday November 26, 2013 by Melissa

**SIGN the Change.org petition to support the Tang brothers!** OPEN LETTER to...

**SIGN the Change.org petition to support the Tang brothers!** OPEN LETTER to Dr. John Leong Chi-yan and the Hong Kong Hospital Authority re: Access to Elaprase/Idursulfase for the Tang Brothers...

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AIM-IT: Phase III trial for Idursulfase IT

Posted Friday October 25, 2013 by Melissa

I’m sitting at the National MPS Society conference and learning more about...

I’m sitting at the National MPS Society conference and learning more about the next step in the testing of Idursulfase IT – the Phase III trial. I know families are...

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