Hope, Faith and Love – Our Nations Robotic Heros!

We have returned from the National Chemical Genomics Center (NCGC) and are busy working on pushing forward new therapy ideas for Addi and Cassi and Niemann Pick Type C disease using state-of-the-art cheminformatics methods.

The robotic equipment the NCGC has established for testing cells and profiling compounds for large collections of chemicals is incredible.  The whole facility is like something out of a Sci-Fi movie.  It was fascinating to see these three robots in action and we decided to name them, “Hope, Faith and Love.”

It has been an absolute insane six weeks for us since receiving the Niemann Pick Type C diagnosis.  Besides the NCGC trip, we have made trips with the girls to the Mayo Clinic and the National Institutes of Health for a week long study (thankfully with our new portable DVD player and CandyLand CD). I have literally been immersed in trying to get a handle on Niemann Pick Type C, what this means for Addi and Cassi and our family and what we can do to accelerate research into the disease and find therapies.

I have very little science background but I think I may be ready for my Ph.D. in biochemistry!   Try taking a shot at reading the Brown and Goldstein papers after reading my posting and let me know what you think (it takes some time to download).  These new papers are major scientific milestones for understanding Niemann Pick Type C and cholesterol binding at the cellular level but it’s not exactly light reading. I believe we have done a fairly good job on our website by simplifying what is happening to Addi and Cassi — cholesterol is building up in their cells and leading to neurodegeneration in their brains and doctors don’t fully understand why.

At this point, we are doing everything we can to stop this horrible disease and are trying to unearth every stone we can to find near term therapies. I have learned overnight that there is a whole different language in science — it’s a combination of Latin and Greek!  There are words like assays and microarrays (translation: sophisticated tests of cells), IRBs ( institutional review boards are really starting to slow us down in trying to find therapies for Addi and Cassi which I will leave for another post).

BC-Theta, a new kind of cholesterol binding probe (translation: you can see cholesterol in cells better and it’s cool new stuff that could be better than filipin staining (I don’t even want to get into what this is!)  There are words I’m learning like sterols, cyclodextrins, sphingomyelin, cytosolic, pathogenic cascades, hepatomegaly and substrate reduction therapy. I don’t really want to learn any of this but I must in order to try and work towards finding therapies to help Addi and Cassi.

I wish I could go back six weeks to when I was making trips to Baskin-Robbins, the library and Walmart.  I have not been able to spend much time with Addi and Cassi since this all happened and my mother has essentially moved in with us.  Our nanny is working overtime to try and keep things somewhat normal in our household while we try and make headway with doctors and researchers to accelerate research.  We really have no choice.   We can’t simply stand on the sidelines and do nothing so we have decided to take action on multiple levels.

For those of you wanting and update on the drug Zavesca, we still don’t have it and I’ve been working to push this along for weeks now.   After hours of back and forth on the phone and email, we should have the drug by Monday.   I really should not complain.  At least we’re going to get the medication.  I had an email exchange with one Mom and their insurance company won’t cover the drug. It costs $80,000 per year to have a child on Zavesca — $160,000 for Addi and Cassi for the year!   To give you an idea of how expensive this is, in 2006, the median annual household income was $48,201.00!   Obvoiusly, these people don’t make enough money to pay for Zavesca so they have to watch their son slowly die without being able to do anything about it.   If you are feeling sorry for us, can you imagine this hopeless feeling?

This makes me so incredibly ANGRY at our system – a drug that could help slow down this disease should not cost this amount of money.   This is also why I am so motivated to do something to bring awareness to this cholesterol disorder and also what is happening in our medical system (more posts to follow on this for sure!) We are literally in a race against time and unfortunately this is not a marathon.  We are in an outright sprint.  We plan to win this race for all kids with Niemann Pick Type C even though we’ve just come out of the starting blocks.  We appreciate everyone cheering us on!

Finally, we need financial donations to help us accelerete research not only for Addi and Cassi but for a novel medical approach we are pursuing that could impact millions of people.  Please donate today to the Addi and Cassi Fund.

The National Chemical Genomics Center, Rockville, Maryland

We are leaving tomorrow, Nov. 26, 2008, for a special meeting to discuss accelerating research into Niemann Pick Type C disease at the National Chemical Genomics Center (NCGC) located in Rockville, Maryland.

The National Institutes of Health (NIH) established the NCGC to create a national resource for the study of protein and cell functions so they can learn more about the biology of diseases and genetics.

We are going to get a tour of the state-of-the-art high throughput screening robotic operation and we can’t wait to learn more.  The NCGC is one component of the NIH’s Roadmap Initiatives, an innovate project to create research centers, teams and technologies to accelerate new discoveries in biomedical research.

You can read more about the entire NIH project here.

Thank You Blue Cross Insurance!

Today is our first post in our blog and it’s a very significant day in our lives. We want to thank Anthem Blue Cross Insurance Company from the bottom of our hearts for giving Addi and Cassi a chance at life. Blue Cross has approved Zavesca for both girls and we plan to start the girls on it immediately. We have heard it doesn’t taste very good but we’ll manage that.

Blue Cross has been the most amazing insurance company since Addi and Cassi were born and we’re are going to beat Niemann Pick Type C disease with their help.  The promising research announced by Brown and Goldstein labs shows what a central role Niemann Pick Type C plays in cholesterol metabolism.

On the other hand, we want the world to know how terribly disappointed we are in Actelion Corporation.  Actelion, a Swiss based pharma company, does not have a “compassionate use” program established within their company.  Compassionate use is a term used in the United States for “a method of providing experimental therapeutics prior to final FDA approval for use in humans. This procedure is used with very sick individuals who have no other treatment options. Often, case-by-case approval must be obtained from the FDA for “compassionate use” of a drug or therapy.

Actelion makes millions and millions of dollars each year (total net revenues of $946.4 million, up 38 percent since 2006) but DENIED our request for the only drug that could possibly help slow down Niemann Pick Type C.  Do you think they could have considered splitting the cost with Blue Cross or could start a compassionate use program in order to support us and other kids suffering from Niemann Pick Type C?  It’s all about the money.  We are very fortunate that Blue Cross has compassion for children like Addi and Cassi and is supporting us in our fight against NPC.

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