If you were a frozen embryo, would you rather die in a freezer or donate your life to science?  It seems like a very easy choice to make, don’t you think?  I have never had to think much about the stem cell debate before Addi and Cassi were diagnosed with a rare and fatal disease but now stem cell research is at the forefront of my mind.  Stem cell research could possibly save countless children who are suffering from NPC and other deadly diseases.  

I ask any person who is opposed to stem cell research to put themselves in our position — our children are on a path to turn into vegetables and suffer a most horrific death if we don’t accelerate scientific research across the board, including into stem cells.  

I tend to fall into the more conservative camp on a number of moral and political issues but I have been thinking about my vote in the upcoming election as I want to support those candidates that will work to allow science to move forward while addressing the main moral conundrum.  Because we are faced with this horrible situation, I am coming to understand that the current administrations position on this subject is simplistic and naive.

All I can think about is Addi and Cassi ending up dead in a freezer …just like these embryos.  Why?  If embryos are "life" it seems to me that these embryonic "children" would be honored to give up their lives to save other children like Addi and Cassi who in turn might end up giving their lives to try and solve one of the most complex neurological brain mysteries in science.  Children should not be in freezers - left to die as an embryo or dead from a disease that can be solved.  It’s time to let scientists and researchers do their jobs — to save lives, including yours, your children and your grandchildren.

The following is a quote from a letter to the editor of the Reno Gazette Journal in January 2007 written by Lawrence Goldstein, a Howard Hughes Medical Institute Professor and Department Of Cellular and Molecular Medicine Director for UCSD Stem Cell Program.

"It’s unfortunate that those opposed to embryonic stem cell research have jumped to the wrong conclusion once again about the recent report that a new cellular reprogramming method might eliminate the need for embryonic stem cells. There are two important facts about this exciting recent advance in reprogramming adult cells: first, this advance was possible only because of work done with embryonic stem cells; second, like most stem cell advances, we are still early in our understanding of the implications of these findings. 

What remains certain is that thousands of embryos will die in the coming years in freezers across this country and around the world. There is abundant genetic diversity in those frozen embryos that could be a lifesaving source of novel therapies for devastating diseases. Scientists have never argued that embryonic stem cells have the only medical potential. Scientists do say that policymakers should not tie the hands of science by allowing us to look through only one door in our quest for new disease treatments."  Read the entire letter here

Clearly, this issue is extremely complicated.  I do not support the creation of embryos purely for scientific purposes.  However, the harsh reality is that 10s if not 100s of thousands of embryos are currently being stored in freezers for "family building."  Of those, many will never turn into children like Addi and Cassi and thus will be destroyed by fertility clinics.   As a society, we have already accepted the creation of embryos outside the body for the purpose of creating life and in vitro created children are filling up classrooms everywhere.   The possibilities of embryonic stem cell research are limitless.  These embryos, who are now living under a death sentence in freezers, should be entitled to a right to life by living on in others through helping solve complex medical problems.

Finally, let’s hope we can create stem cells from other reprogrammed cells so the embryo debate can be over ( Newsweek’s most recent article).

Posted by Chris (Mom)

An email popped into my inbox from my new friend, Danielle LaVerde, who has a sweet little girl named Gabrielle who has NPC like Addi and Cassi.  Danielle lives in Florida and like me she is doing everything possible to save Gabrielle from this horrible disease.  Her letter makes me cry and cry and cry.   Someone else is going through the same nightmare.

I am putting together a donations package so we can raise money for NPC research and I am asking scientists, researchers and parents of NPC children for submissions to help us raise awareness and money for NPC.

Danielle submitted Gabrielle’s Story and I ask that you to take a moment out of your busy day to read it.   If you have not made a donation, please consider making one for our children.  Every dollar we raise in the Addi and Cassi Fund will go to therapies and solutions for NPC kids in the near term.   Even the smallest amount helps.  And please help us get the word out about our kids.   We are Mom’s with a Mission - curing NPC!

Posted by Chris (Mom)

With the permission of Sherry Richardson, a proud Mom of a beautiful boy named Ryan Richardson (5/27/00-10/18/05), I posted a letter she wrote about NPC and what NPC stole from her son Ryan and her heart.   I pray to God every minute of everyday that this will not happen to our beautiful daughters and other families who have children with NPC.  We need everyone’s help to fight this MONSTER puzzle of a disease and find therapies and a cure for NPC.

Posted by Chris (Mom)

I am posting this message to the entire world to let everyone know that Hugh and I will not sue any doctor, scientist, researcher, hospital or non-profit if anything happens to Addi and Cassi as we embark on trying experimental treatments to save their lives.  No matter what happens during this journey, we assure you we will not take legal action against you and we are putting this is writing for all to see.  We are also willing to sign any release form necessary (of course these would need to be drawn up by lawyers!).

Oh, the lawyers!  There really needs to be a law against lawyers. The entire medical system is totally paralyzed because everyone in the ecosystem is living in fear of litigation.  I can tell you that the medical system as it is working today is keeping children like ours from getting the types of treatments they desperately need.  It has come to the point where doctors can’t even dispense an aspirin or an antibiotic out of fear of malpractice.  There are too many bureaucrats who in turn are afraid of the lawyers and who literally want to stand in our way of getting productive things accomplished.  I have come to understand that there are people in the medical and research system who do not want to help us, they simply want to keep their jobs and not get sued or are interested in publishing their next scientific paper.

Then there is someone like Mike Alonso at Jones Vargas, a lawyer who has been particularly helpful in making connections for us during this most difficult time.  Talk about worldclass.

And of course there is Marc Patterson, Addi and Cassi’s neurologist from the Mayo Clinic.  Every single doctor in America should take a lesson from Marc Patterson on how to care for patients and what it means to be a doctor.  Someone who you would expect would have a huge ego since he is one of the brightest people on the planet does not have one.   I have not met one person who has not said, "Marc Patterson and wonderful" in the same sentence. 

Steve Walkley and Dan Ory are true collaborative research scientists, who believe in openness, data accessibility and science for the people.  These are a few of the people who keep me hopeful that even despite the lawyers and the bureaucrats and the sickness that exists throughout our medical system, there can be a new paradigm for how rare diseases like NPC are treated and cured in the future.  

 Posted by Chris (Mom)

A telephone call from an unknown number came to our house on Friday night.  It was Mrs. Claus on the line calling to inform us that Santa would be arriving at our house from the North Pole between 5:30pm and 6:00pm on Christmas Eve to bring Addi and Cassi their Christmas presents.  This is the time Santa arrives in Reno and apparently he’s very busy so we better be prepared with the video camera.  Mrs. Claus also reminded us that when Santa leaves the house the girls need to go to the backyard to look for the Rudolph and the rest of the reindeer so they don’t see Kris Kringle getting into his pickup truck!   The kindness people have show us over the past few months is extraordinary to say the least.

Yesterday, my good friend Denise stopped by with a set of darling CureCaps made by a friend of hers who lives here in Reno.  Carol, our friend in Boston, spent two solid weeks knitting CureCaps day and night and is helping us get the word out about Addi and Cassi on the East Coast.  Our friends from Australia offered to donate their beach house and a round of golf at the Royal Melbourne Golf Club, one of the top golf courses in the world, for our fundraiser and silent auction in May 2008.   We have received pedicure donations, housecleaning service, the condo on Lake Tahoe…the donations go on and on.  Many people are offering their personal time to help us as well.  The outpouring of support on so many different levels is incredibly moving and keeps us focused on our goal to conquer cholesterol and beat NPC.

A number of checks have also come to the house to the Addi and Cassi Fund.  The donations come in large and small amounts — $10,000, $1,000, $500 and even $10.  Many of the checks are coming from people we have never met and they arrive with touching letters of support and encouragement.

To everyone this Christmas, we wish you much love, peace and joy.

The Hempel Family

"We’re up to 341, that’s really cool," isn’t it?  This is what my husband Hugh said tonight when he walked into the kitchen after midnight.  "The wishes are amazing, aren’t they?" he says.  I agree.  I decide to write this blog post.   "Come on, honey, he starts calling from our master bedroom."   "OK," I yell back to him.   He does not know I am posting this message.   He walks into the kitchen.   "Come on, let’s go to sleeeeeeeeeeep."   He pours himself a glass of water.   He is getting up at 5am to fly from Reno to Los Angeles to have experimental cold laser therapy done on his body.   It’s alternative therapy treatment and given how conservative he is, it really starts to hit me as to how much he loves Addi and Cassi.  He’s not an alternative therapy type of guy but he is willing to try anything to save them!

Posted by Chris (Mom)

Regulations, Regulations, and more Regulations !

Some people have asked me why I am not blogging about different topics every day. I really wish I could be blogging more but besides having 1000 things on my to do list, I am actually scared to death to actually talk about some things that are happening to us right now out of fear we might not get the help and cooperation we need to try and save Addi and Cassi’s lives. There are many doctors, researchers and scientists who are being highly cooperative and it’s been a truly remarkable experience. Thank you!

On the other hand, there are others who are not as cooperative. I have found that there are a lot of egos in the medical and science community. A lot of science is about publishing papers about experiments in mice and petri dishes, not about finding near term treatments and therapies that work for kids like Addi and Cassi. The system is certainly not designed around sharing and collaboration – it’s really a collection of silos all competing against each other for funding or who will get the next Nobel Prize. Someday I will have the opportunity to explain more.

What I can and will talk about is IRBs – in my mind the term stands for "Insane, Ridiculous and Broken" oversight committees. I never even heard of the term “IRB” until a few months ago when a doctor said we have to, “get this idea through the IRB and this is going to take lots of time.” IRB stands for Institutional Review Boards. One of the biggest problems we are facing at the moment with Addi and Cassi centers around the IRBs. IRBs are independent ethics committees that have been apparently set up to “protect” the rights and welfare of humans if they are involved in research studies. They are now standing in the way of Addi and Cassi getting critical tests done which will ultimately lead us to therapies more quickly. The bottom line is that IRBs are severely impeding progress of medical research in the United States and something needs to be done about it at a national level.

Let me give you an example of just how ineffective an IRBs can be when you are facing a rare and fatal disease like NPC and you’re in a sprint, not a marathon, to save your kids lives. The National Institutes of Health (NIH) needs spinal, blood and urine samples from healthy children to compare against NPC children who they are currently studying. Both Addi and Cassi are in the study. If the NIH can compare normal kids samples directly against NPC kids samples, they might actually find something called a biomarker (a sign of illness in the bodies of NPC kids). Piece of cake to get samples, right? Wrong. The problem is it can take MONTHS to put together a “protocol” and get it approved through an IRB. Once you get a “protocol” designed, you need to get group of committed physicians (most likely ER doctors) who will be at the front lines to get consent from families to obtain these specimens. I have been working with the NIH and my local hospital, Renown Regional Medical Center, to try and make this happen. They both have been very cooperative and are trying to move as quickly as possible under the rules but I’m now seven weeks into this process between getting the protocol, the consent form, and begging our local doctors to participate. I still have to get approval from the local IRB so cross your fingers.

Why am I even having to do this? If I don’t do this, it will take months, if not years, to get these samples because there are not enough resources in the NPC community to accelerate the process more quickly. I told this story to a friend who offered to send her child down to get the blood and urine sample done so we could send them to the NIH immediately.  Problem is, you can’t do this, it’s against the "rules."  So while millions of samples are being flushed down the toilet or disposed of on a daily basis at hospitals around the country, kids are dying.  These samples literally could provide clues into NPC that could lead to treatments more quickly.  This is an absolute nightmare of all nightmares. No parent should be faced with getting a diagonosis of NPC and then enter into a totally dysfunctional medical and drug development system on top of it. While I realize that IRBs do serve a purpose, the regulations have simply gone too the extreme and therefore are becoming ineffective. It seems like IRBs are far more worried about litigation when they should be focused on saving lives.

Posted by Chris (Mom)

We’re have returned from the National Chemical Genomics Center (NCGC) and are busy working on pushing forward new therapy ideas for Addi and Cassi and NPC using state-of-the-art cheminformatics methods.  The robotic equipment the NCGC has created for testing cells and profiling compounds for large collections of chemicals is incredible.  The whole place 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 absolutely insane six weeks for us since getting the NP-C diagnosis on the girls.  Besides the NCGC trip, we have made trips with the kids 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 NP-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 and ultimately a cure.  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 NP-C and cholesterol binding at the cellular level but it’s not exactly easy reading. 

I believe we have done a pretty good job on our website of 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 (these 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.  The good news is that God has been preparing us both all our lives for this challenge and we didn’t even know it.  We plan to win this race for all kids with NP-C even though we’ve just come out of the starting blocks.  We appreciate everyone cheering us on!  

Finally, we do 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.   More to follow on this in future blogs.  Please donate today to the Addi and Cassi Fund.   We promise this will be money well spent and we hope will make a big impact!

Posted by Chris (Mom)

Our Mom and Dad are leaving tomorrow, Nov. 26, for a special meeting to discuss accelerating research into NPC at the National Chemical Genomics Center located in Rockville, Maryland.  The National Institutes of Health (NIH) establised 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. 

Our parents are also going to get a tour of the state-of-the-art high throughput screening operation which we can’t wait to learn more about.  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.

Posted by Chris (Mom)

Today is our first post in our blog and it’s a very significant day in our lives.  We want to thank Blue Cross Insurance Company from the bottom of our hearts for giving us a chance at life.   Our parents told us today that Blue Cross approved Zavesca for both of us and we plan to start taking it immediately.   We heard it doesn’t taste very good but we’ll manage that.  

Blue Cross has been the most amazing insurance company since we were born.  We are going to beat NP-C with their help.  The promising research announced by Brown and Goldstein shows what a central role NP-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 (Ttotal 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 NP-C.  Do you think they could have considered spliting the cost with Blue Cross or starting a compassionate use program in order to support us and other NP-C kids?  It’s all about the money.  We are very fortunate that Blue Cross has compassion for children like us and is supporting us in our fight against NP-C.

Posted by Addi and Cassi