The Puzzle That Desperately Needs To Be Put Together

 With the permission of Sherry Richardson, a proud Mom of a beautiful boy named Ryan Richardson (5/27/00-10/18/05), I’ve posted a letter she wrote on what Niemann Pick Type C disease stole from her son Ryan and her heart. I pray to God every minute of everyday that this will not happen to Addi and Cassi and the other families who have children fighting NPC.  We need help to put the pieces of this puzzle together to find therapies and a cure for Niemann Pick Type C. 

A Mom’s Story About Her Beautiful Son Ryan

As I look back on the past five years, the common question that was asked of me was, "What is Niemann Pick Disease Type C"?  I have always answered the correct scientific way, but as a mother, I know what this disease really is.  It’s a missing piece of a puzzle that so many of us are searching for and would do anything to find.

NPC took the most beautiful sounding voice slowly away, only to be heard again in dreams.

His wonderful feet that wore all different types of shoes are only turned inward and a simple sock causes him pain.

His legs that were once strong can not longer bend and now one can only see bone.

His tummy has always been large, but now causes him harm that a simple deep breath is hard to do.

Those lovely hands that onced gripped mine are now curled up and a simple touch makes him cry.

His arms once held me but now they can no longer bend and picking him up is hard to do.

His beautiful lips that gave away kisses now are now intruded by suction tubes.

That beautiful mind that used to draw me pictures are now taken over by daily seizures.  I often wonder when they occur, where do you go and pray that it does not hurt you.

There is one thing this disease will not take away, his strength to live and his offering of love.  And still with all that he is going through, he still manages to smile which helps my broken heart.

So, what is Niemann Pick Type C disease?  A puzzle that desperately needs to be put together so no other soul on this earth has to go through such pain and no other family member needs to hopelessly watch their loved one slip away.

Sherry Richardson:  Proud Mommy of a boy who just happened to have NPC

Ryan Richardson
5/27/00-10/18/05

A Law Against Lawyers!

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 them from Niemann Pick Type C disease.  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 the world to see.  We are also willing to sign any release form necessary.  Of course, this release form 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 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 treatments 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 world-class.

And of course there is Dr. Marc Patterson, Addi and Cassi’s pediatric 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.

Dr. Steve Walkley at Einstein University and Dr. Dan Ory at Washington University who 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 Niemann Pick Type C are treated and cured in the future.

Santa Really Is Coming To Town!

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 to take video.  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, a friend of mine 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

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.

CureCaps Volunteer List

Below is a list of our amazing CureCaps volunteers. Please join our cause today by emailing us.

California
Betty O’Connor, South San Francisco
June Heise, South San Francisco
Marlena Kien, Chester
Vi Kaupanger, Westwood
Peggy Van Wie, Auburn
Diane Crew, Elk Grove
Joyce Eriksson, Sacramento
Katarina Grabowsky, Sacramento
Sandra Neff, San Carlos
Judy Stogner, San Carlos
Lenore Sweet, Clayton
Eireann Schulenburg, Mountain View
Brigida Cortese, Montrose
Connie Christodulis, Los Gatos, constance_christodulis@yahoo.com
Janet Wasserman: wasserman_janet@yahoo.com
Shirley Mauricio, shirleym@1185design.com
Lisa Scott, lisaonvacation@hotmail.com
Sherif & Mereema Marmash, ray@arxnetworks.com

Colorado
Cathy Stevens, Greenwood Village

Massachusetts
Carol Chapman, Wakefield: cchaps225@verizon.net

Minnesota
Kathy Chapdelaine: kchapdelaine@carlsonwagonlit.com

Nebraska
Carol Eash, Omaha, vickithomas@tconl.com

New York
Barbara Danner, Rensselaer
Margaret Cipperley, Wynant Still

Nevada
Elaine Walker,Reno, elaine@eawalker.com
Linda Kelley: llkylemore@charter.net
Diane Shulman: brickshus@aol.com
Brooke Graham, brooke94509@yahoo.com
Atie Blinn, Reno, 775-853-9208
Gert Perez, Reno
Appelonia Ornelas, Reno
Debbie Dezsi, Reno
Liz Terry, Sparks
Jennifer Dolder, Reno, mjdolder@aol.com
Margaret Clark

Tennessee:
Abe’s Garden at Park Manor Retirement Community, mwomack@parkmanorapts.com

Texas
Marty Hughes: skymart46@hotmail.com

Virginia
Eric Childress, Virginia Beach, kelticshadow@aol.com

Wyoming
Saratoga Prayer Knitters
Marvin Worden
Barbara Johnson

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