The “Lucky 200” Health Care and Drug Club

Are you lucky? Did you know that of the 7,000+ diseases that affect humankind, treatments for only about 200 are being actively sought by pharmaceutical and biotechnology companies?  Crazy, isn’t it?  As it turns out, it costs about $1 billion for a pharmaceutical company to bring a new drug to market so they are entirely focused on return on investment. It also can take from 10+ years to get them to market.

This is why we see drugs like Viagra coming on the market and not medicine that can actually cure people who are sick. Which bucket do you think you might end up in someday?  The 200 Club or 7,000 Club?   Why are the political candidates not talking about this topic? You can have all the healthcare insurance you want, but if there is not a drug for you when you become sick, what will you do?

Nearly 47 million Americans, or 16 percent of the population, are currently without health insurance according to the National Coalition on Health Care.   Even if we were able to provide all these uninsured people with health care, the concept of universal health care will never work in a broken system that is full of insane regulations and bloat.

If politicians like Barack Obama or Hillary Clinton want to know what is wrong in the medical system, they should ask people like us who are in the midst of a medical battlefield and trying to win a war.  You can’t understand what is going on until you are fully immersed in this nightmare like we are.  The first thing I would tell them is that $160,000 dollars per year for an experimental drug for two children is a little excessive, don’t you think?

We have only been navigating the medical system for three months — here are some other major problems.

• Lawyers: everyone in the medical system is afraid of lawyers and paralyzed as a result. The system can’t move and doctors won’t take risks because lawsuits is all they can see.  They are afraid to dispense an aspirin to kids who are dying.  Seriously.

• Insane Federal Regulations put the fear into Institutional Review Boards (IRBs): we need tort reform on a national level. I had someone smart tell me that what is happening in our system is “criminal.” Doctors and scientists are sick of IRBs and goverment regulations because they can’t get anything done

• The IRBs Themselves – They are insane: The red tape and paperwork are standing in the way of getting to cures and treatments.  Everyone in the system is complaining about the IRBs – they were designed to help people and protect people and now they are killing people. By the time researchers get IRB approval, their grants have run out. I have been in an IRB nightmare for 3 months with the NIH and our local hospital to get simple samples of urine and blood from healthy kids to compare to Addi and Cassi.  There are plenty of other insane examples that I will post in future blogs.

• Wrong Incentives – Publish or Perish: Research labs are competitive — all they can think about is their next grant and putting food on the table. Many are running the same experiments and do not talk or collaborate well. There is tons of waste in the system because of lack of data sharing.  Scientists are afraid to put ideas out for fear of ridicule by others scientists and before numerous tests are done 50 times to confirm they are not crazy. Getting information out to the medical community and public is a major bottleneck – the incentives for science needs to change! Future Nobel Prizes should not be given out to scientists or researchers who are not collaborators

• Technology – many of the people in medicine are still folks who “dictate” and don’t know what a Blog is. Old timers are resistant to change but have the most experience, new scientists are technology savvy but need exceptional tools to make their lives easier. The right kinds of technology need to exist to make it easy for the medical industry to do their jobs

• Collaboration:  it’s practically nonexistent across the entire medical field

• Cross Sharing Among Disease States: It’s not simply collaboration between scientists in a particular disease state, it’s creating collaboration between scientists working in different disease states that have connection points

• Therapies Now: how do you translate what is in petri dishes and mice into potential therapies for people with diseases?  How do you take existing drugs and test them against disease to see if they work or could be used “off label.” Studies in labs with mice do not translate well for people who are dying

• Case Manager: I am working full time to move the needle for Addi and Cassi. What happens if you have cancer and don’t have an advocate to help organize all of this or can’t get out of bed? There could be a whole business spun out of this idea and people would pay for Case Managers

• Money: If you want to live, start saving now. You better be prepared to shell out as much money as you can in a broken system.  Not only do you need insurance, you need your own money ….. and lots of luck!

Understanding Genetic Testing & Sequencing – It’s Greek To Me

We have recently learned from the Mayo Clinic that our twins Addi and Cassi have one Niemann Pick Type C gene mutation that has been identified in their bodies — it’s called Exon 12 DNA Change 1920delG.   This DNA sequence change (or deletion) is a “known pathogenic mutation in the sterol-sensing domain.”   The 1920delG mutation leads to a premature stop in the synthesis of the protein after 655 residues, instead of the normal 1278 residues.  We were told that because of the position of Addi and Cassi’s mutation, the lab at Mayo could only get clean DNA sequencing in the forward direction.  We are still trying to figure out what all of this means.

The second mutation in the twins have so far has proved elusive to Mayo Clinic researchers.  At this point, Hugh and I need to have our Niemann Pick Type C genes on Chromosome 18 sequenced in order to try identify our family’s second mutation.  Next week, we will have our blood drawn and sent to Mayo for analysis and hope to find the second mutation.  By finding our genetic mutations, we can learn clues about Niemann Pick Type C disease.  We have also found out that Addi and Cassi do not have a common NPC mutation — that mutation is called I1061C.  It gets more complicated for us and the mystery deepens.

I wonder if I have the Exon 12 DNA Change 1920delG in my body?  Or is Hugh the carrier of this faulty gene?   Which one of us has the gene that is proving elusive and hiding?   How did this even happen to us and our family?  This mystery goes back thousands of years and is so bizarre and so complicated that I simply don’t want to think about it anymore tonight.   God only knows what will happen in my dreams.  Each night, I am afraid to close my eyes for fear as to how my unconscious mind will take over  — my nightmares are beyond comprehension.

Moonlight Garden Gala Fundraiser Committee

Maria Muzea (H) 849-1603 (C) 843-3364 mariamuzea@charter.net
Nancy Stoltz (W) 784-9400X118 (C) 830-7789 nancy@thebausermangroup.com

Silent Auction
Annie Dunn, Co-Chair (H) 851-3440 (C) 527-2383  annie@2dunns.com
Debbie Barber (H)775-852-5973 (C)775-842-5290

Lisa Williams (H) 852-4671 (C) 925-212-8789  lisajwill@yahoo.com
Kelle Venezia (H) 852-9462 (C) 415-342-1271  kellevenezia@sbcglobal.net
Denise West (H) 852-4416 (C) 223-0269  denise@bellylaf.com
Andrea Knapp (W) 688-5724 (H) 813-4870  andrea_knapp@ml.com
Elaine Walker (H) 851-3120  elaine@dipaco.com
Justine Figurski (C) 848-1369  Justaboo1972@sbcglobal.net
Jessie Perkins (H) 333-6777 (C) 219-7018  nannyclub@sbcglobal.net
Mary Shipley (H) 971-9774 (C) 544-4459  mbshipley@sbcglobal.net
Hilary Hewlett (H) 787-9395 (C) 848-9750  hhewlett@sbcglobal.net
Marisa Randazzo (H) 424-6685 (C) 741-3314  mrr@threatresources.com
Cara Hamm
Janet Beattie (H) 849-9040  beatj6@yahoo.com
Dani Canziani, Coordinator (W) 849-3091 danirae@charter.net

Live Auction
Elaine Walker, Chair (H) 851-3120  elaine@dipaco.com
Lisa Williams (H) 852-4671 (C) 925-212-8789  lisajwill@yahoo.com
Hugh Hempel (H) 849-1924 (C) 338-4844  hugh@hempelfamily.com

Event Planning & Logistics
Robin Brockelsby, Chair (W) 359-6733 (C) 690-5327  robinb@creativecoverings.com
Dale Davis (H) 849-0689 (C) 745-6703  dale@toplineleadership.com
Jan Houston (W) 849-9444 (C) 250-5976  janh@montreuxgolf.com
Erin Pieretti (W) 784-9400×106 (C) 771-9691  erinp@thebausermangroup.com
Felicia Griffin (W) 788-2131×113 (C) 315-4567  felicia@seismicevents.com
Carrie Carano  carriecarano@hotmail.com
Teresa DiLoreto-Long (W) 359-3000 (C) 691-2770  tndl@forumdevelopment.com
Elaine Walker, Decorations (H) 851-3120  elaine@dipaco.com
Donna Johnson, Decorations (H) 849-3021  drj1@charter.net
Nancy Simmons, Decorations (H) 846-1656  nancy@simmons-family.com
Rita Sanford, Guest List/Invites (C) 376-0669  sanford@wnc.nevada.edu
Christy Pappas, Event Program (H) 849-4165 (C) 224-7619  catpappas@aol.com

Montreux Golf Tournament
Loni Wolf, Chair (H) 853-7697  wolf4325@aol.com
Jeannie Sewell (C) 287-0884  jeanniesewell@sbcglobal.net
Lisa Reicken (C) 232-4969  lisal49@hotmail.com
Hugh Hempel (H) 849-1924 (C) 338-4844  hugh@hempelfamily.com

Volunteers – Event Day Set/Strike
Robin Brockelsby (W) 359-6733 (C) 690-5327  robinb@creativecoverings.com
Rita Sanford (C) 376-0669  sanford@wnc.nevada.edu
Kristi Sprinkle (C) 771-0639 kritter_24@sbcglobal.net
Kellie Labarry (C) 741-7029  labarry@unr.nevada.edu
(Recruit New Members)

Volunteers At Large:
Ann Rosevear arosevear@walshbakerrosevear.com
Dottie Molt dotpixels@aol.com
Liz Terry eterry@washoe.k12.nv.us

Life Versus Freezers

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 someday save  children who are suffering from Niemann Pick Type C and other deadly childhood 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 losing their minds and will 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 2008 election. I want to support candidates who will work to allow science to move forward while addressing the main moral conundrum.  Because we are faced with this horrible situation, I am quickly understanding that the Bush administration’s 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 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 UC San Diego 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).

Sweet Gabrielle LaVerde

An email popped into my inbox from my new friend, Danielle LaVerde, who has a sweet little girl named Gabrielle who has Niemann Pick Type C 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 Niemann Pick Type C research and I am asking scientists, researchers and parents of NPC children for submissions to help us raise awareness and money. 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. Even the smallest amount helps. And please help us get the word out about our kids. We are Mom’s on a Mission – curing Niemann Pick Type C!

 

My Dreams For My Daughter Gabrielle

All I ever wanted to be was a Mom.  From an early age, I knew that was what I wanted to be when I grew up. On career days at school, while my friends aspired to be teachers, nurses, lawyers, and even astronauts, I wanted to have children and stay at home to raise them – – four of them to be exact. My goal was to raise, kind, secure, loving children. I wanted to know them and I wanted them to know me. I wanted to talk with them and watch them play baseball and dance. I wanted to laugh with them, read to them, dance with them, and have dinner each night while hearing about their day at school.

Motherhood did not come easy, though. After over five and a half years of trying to conceive, including a positive pregnancy test discovered to be false the day after my husband’s father suddenly died, medication, surgery, and swallowing 40 herbs a day, I finally found myself pregnant. My husband and I were in complete disbelief. We were overjoyed that we would finally have the child that we’d waited so long for. We had already loved this child for years and now she was real. We thought we had survived the most horrible event of our lives.

After a relatively uneventful pregnancy and delivery, we had our precious baby – Gabrielle. We gave her that name because she was our beloved angel, new and fresh from God’s very hands. She was a miracle, prayed into existence. She was a tiny little thing, only 5 pounds, 15 ounces and 19 inches long. The first eighteen months or so of her life were wonderful. She was a happy, sweet, smiling little girl, with big, sparkling eyes and she had the best belly laugh we’d ever heard. She was everything we’d ever dreamed of and more. She developed normally and hit her milestones on time, including her first words. She pointed at everything asking, “Watsat?” “Watsat?” She started walking later than most, but was toddling around by 15 months, well within the standard time frame.

Somewhere around 18 months we began to notice that she was not quite keeping up with other kids her age. They were picking up new words, she was not. They were growing more stable on their feet, she was not. By the time her second birthday rolled around, we knew something was wrong. Her pediatrician, however, thought she was “perfect” and that she would “catch up” by the time she turned three.

By her third birthday, it was even clearer to us that she was having difficulty with her speech and gait. It was obvious that her balance and coordination were not what they should be. Finally receiving a referral from her pediatrician, we took her for a complete evaluation. Her fine and gross motor skills, as well as her speech, sight, and hearing were all tested and it was determined that she was “developmentally delayed”. Mild Cerebral Palsy was even mentioned as a possibility. The recommendation was that she begin classes as well as speech, physical, and occupational therapy at the local elementary school.

Months went by and it was apparent to us that while she greatly enjoyed school, the classes and many therapies were not helping her progress. By her fourth birthday, we were very frustrated with her pediatrician. It was plain that Gabrielle was having a medical problem and that her doctor was not going to help us determine what was wrong. She must have felt we were being obsessive, over-protective, first time parents making something out of nothing. Her four year check up with a new pediatrician brought us new information and new hope for an answer. She told us several things about Gabrielle that her previous doctor had never shared with us. For instance, that she has connective tissue issues – – hyperflexible hip joints and nearly flat feet. The doctor did not have any idea what was wrong, but agreed that it was unmistakable she had a medical problem and recommended that we immediately schedule appointments with a Behavioral Pediatrician, a Geneticist, and a Neurologist to aid with diagnosis.

The Behavioral Pediatrician worked with us for about one year, offering helpful suggestions and testing her for conditions she knew Gabrielle didn’t have simply to rule them out, such as Autism. In the meantime, we also worked with a Geneticist and a Neurologist. For two years, Gabrielle was subjected to countless blood tests. I used to count how many vials of blood were taken from her, but stopped around 50. Holding down my terrified, screaming child along with 4-5 other people so a nurse could draw blood was one of the hardest things I’ve ever had to do. I would beg God to make it stop; crying as hard as she was by the time it was over. She also endured EEG’s, MRI’s and CT scans. All tests returned normal with the exception of the EEG’s which showed that she was having absence seizures while she slept. Four attempts at different seizure medications failed. One in particular had horrible side effects – – by the third day on the medication, she could no longer put a fork to her mouth and by the fourth day, she could not sit up. All medications were stopped as her doctor felt her system was just too sensitive to tolerate any anti-seizure medication.

We had consulted with literally the best doctors in Orlando, yet no one knew what was wrong. We took her to Jacksonville to meet with a Neuro-Muscularist as her Geneticist was convinced she had a mitochondrial disorder. After waiting weeks to see him and spending four hours at his office, we left with another list of tests. With four more months of testing under out belts, we returned to the Neuro-Muscularist with results in hand – – all negative. The doctor’s response was that he was very glad to see she didn’t have any of those conditions … and that he would see us in a year. We were astonished and shocked that he could offer us nothing else. After pressing him for help, he finally offered that if she were his child, he would take her to the Kennedy-Krieger Institute at Johns Hopkins.

Developmentally, Gabrielle was continuing to decline. Walking, coloring, running, playing, skipping, riding a bike, and jumping were impossibilities for her. Emotionally she became increasingly frustrated, shaking her fists and gritting her teeth while growling in protest at her own body. She knew what she wanted and she knew her body would not cooperate with her mind to achieve it. She understood everything that was said to her, responding appropriately if asked to choose between two items or pick something up, and laughing at what she thought was funny. There were times she would sit next to us on the couch and open her mouth to speak; only nothing would come out. She’d try and try, but simply could not talk. It was heartbreaking. My husband and I cried so many tears. The pain and heartache of doing everything you can think of to help your child and come away without an answer or any improvement was more than we could bear.

We felt helpless as we watched our beloved little angel fall further behind and loose the few skills she did have. She used to count to 13. She used to fill in the next letter when singing her a-b-c’s, and the next word when reading familiar books. She had looked at everything with a sparkle in her eyes. She always appeared to be pondering something very important … the wheels in her head were always turning. As my friends talked, as all parents do, about how well their kids were doing, learning new things on a daily basis and relaying funny stories about things their kids said and did, my precious child was slipping further and further away. And nothing we did seemed to make any difference.

We applied to and were accepted by Kennedy-Krieger Institute. By then, Gabrielle had stopped talking entirely and all we had was a 3-inch thick notebook full of test results that told us every illness, ailment, syndrome, disorder, and disease she didn’t have. Not knowing whether to have her seen by the Movement Disorders Department or the Neurology Department, they scheduled her with both. We went to Baltimore in early 2007. By now, she was 5 years old and we were no further ahead than when we’d begun. Once again we left with a list of suggested tests – – and a warning that it was their opinion that she had a progressive, degenerative disease. Devastation does not begin to touch how we felt. It was huge blow that we were not prepared for. We tried to convince ourselves that they were wrong. This could not happen to our precious girl. After all we went through simply to have her, this could not be her fate. It just wouldn’t be fair.

After a few more tests, and a consultation with another specialist in Brandon, Florida, we moved forward with the skin biopsy necessary to determine whether or not she indeed had Niemann-Pick. The six week wait was relatively painless. Two of her doctors (including the ordering Geneticist) assured us that this was just another test they were performing in order to rule out yet another disease. No one seemed to think this test was going to be any different than all the others. But this one was. This was the answer we’d been searching four years to find … but this was not the answer anyone would ever want. Our daughter’s answer was a death sentence.

Heart-shattering, soul-crushing pain was all we knew at that point. We felt completely helpless. I found myself begging God to take her quickly. I couldn’t stand the thought of watching her slowly disappear … watching her suffer … watching as she looked to me for relief and being powerless to give it to her … watching her endure the end of her life before she had any real chance to live. My dreams of happiness for her were gone. Her whole life she would only know frustration, disappointment, grief, pain, and despair.

Hope was nowhere in sight. We were destroyed. But my friends, family, and coworkers offered a sliver of hope when they ran to my side. They cried with me, held my hand, and let me borrow their strength. They promised to stay with me through whatever came our way. Gabrielle’s doctor offered us another sliver of hope when he suggested several treatment options. So we decided to fight with all we have. We had been fighting for her all her life and we were not about to stop.

My dreams for my daughter have changed. Now my dream is that she will be able to tell us her wants … what she needs … what she feels. My dream is that she will be able to walk wherever she wants without help. My dream is that she will be able to ride a bike. My dream is that she will not die.

The four children I wanted will never happen. I feel I don’t get the choice of whether or not to have more children. I could never take the chance of giving this disease to another child. All I have is my sweet Gabrielle, who still has big, sparkling eyes and the best belly laugh I’ve ever heard.
 

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