I had never heard of the term “BioBank” or biorepository until my 4 year old identical twins, Addi and Cassi, were diagnosed with a fatal disease called Niemann Pick Type C, otherwise known as the “Childhood Alzheimer’s.”
Since receiving this nightmare diagnosis, I have become familiar with many organizations I had no idea existed, including an nonprofit research organization called the Coriell Institute based in Camden, New Jersey. Coriell is a leading biobank that is funded by the NIH and they are dedicated to understanding human genetic diseases.
Coriell collects human biospecimens from people with all types of diseases ranging from Epilepsy to Parkinson’s to Rett Syndrome. As scientists study the connection points between genes and diseases, they are finding many diseases have complex patterns of inheritance.
I have submitted Addi and Cassi’s “biospecimens” — things like tissue and blood samples — to Coriell which are now being analyzed and stored in tanks. When researchers are interested in studying Niemann Pick Type C diesase, they order biospecimens from Coriell so they can try and understand the molecular characteristics and clinical progression of the disease. Once Addi and Cassi’s NPC mutation is fully analyzed, it is given an anonymous number and will be represented by a red dot on Chromosome 18 and can be ordered from Coriell.
Addi and Cassi’s DNA will essentially live on forever in these tanks and my hope is someday their DNA will help solve something researchers have not thought of yet. Maybe their identical twinship will prove even more important to understanding disease than the genetic disease they were born with? Who knows, but it’s interesting to think of the possibilities.
Cures for human disease can only happen faster with biobanks providing researchers with critical genetic material. I am eternally grateful to the NPC families who have already contributed to Coriell’s biobank. Most of these NPC children have passed away but they live on through current research work and they are now trying to help save Addi and Cassi’s lives.
I hope people who have the opportunity to provide samples to biobanks like Coriell will do so in the future and without fear. The good news is that the newly enacted genetic discrimination law (GINA) bars health insurers from using genetic information to make coverage decisions. Many Americans have been reluctant to take advantage of breakthroughs in genetic testing for fear of “genetic discrimination” and that the results could deny them jobs or health insurance.
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.