Special Olympics and Disability Advocate Eunice Kennedy Shriver dies

A big thank you to Eunice Kennedy Shriver for leaving millions of people and families dealing with disabilities of all types a lasting legacy. Maybe President Obama will make a nice comment about Mrs. Shriver today and all she did for the Special Olympics considering his horrible Jay Leno joke a few months back.

Washington Post article here.

CNN Covers How California Health Care Budget Cuts Threaten Life of Little Girl Suffering From Deadly Cholesterol Disease

Here is a story on sweet little Jessica Leoni who suffers from the same disease as Addi and Cassi. Her health care is being threatened by California’s Health Care crisis. Here is the story from CNN.

LOS ANGELES, California (CNN) — Anthony and Lisa Leoni have little time to worry about whether California’s budget crisis will affect their daughter’s life-sustaining care.

A steady stream of nurses, caregivers and therapists visit 12-year-old Jessica at home around the clock. Jessica suffers from a rare and fatal disease called Niemann Pick Type C. A cholesterol imbalance destroys healthy cells in the liver, spleen and brain.

Although Jessica led a relatively normal life before the illness worsened, her mother always knew the disease would eventually take over.

“Jessica was playful, happy and loves people. My heart was always a flutter because you never knew how many moments you’d get,” Lisa Leoni says.

In Jessica’s case, a grand mal seizure suffered Memorial Day weekend 2005 brought a world of hurt to the Leonis.

At the height of her symptoms, Jessica suffered up to 60 seizures a day. The disease, also known as NPC, has stolen her ability to walk, talk, eat or even breathe on her own. An oxygen machine pumps air into her lungs around the clock.

Anthony Leoni knew they needed help.

“If you told us 10 years ago this is how your life is going to be, I would have said we’re not capable. We don’t have the training, ability, we don’t have the energy, we don’t have the stamina.”

They found Bill Feeman of Westside Regional Center.

“When you walk into this home and you see Jessica, [you] just fall in love with her,” Feeman says. “She is a sweet soul — you see her, she’s physically helpless, yet there’s a light that shines out of her eyes, it takes you in.

“When you meet this family and you see how hard-working and involved they are, you just wanna do everything you can to help.”

Feeman worked to find in-home support in the form of nurse caregivers, therapists and medical supplies.

“This family also has all the normal responsibilities of raising a family. They have to pay their mortgage, they have to feed their family, they have to go to work. So when you have someone as medically involved as Jessica is, and you’re talking about all that worriment and responsibility of your child being ill and on top of that you still have to … bring home a paycheck every week in order to pay your bills, you need a lot of help.

“You have to be awake at night with Jessica. She cannot be left alone for even five minutes where someone is not awake and attentive to her needs. So you’re looking at a family, who when I first met them a year ago had some help in the home but nowhere near enough and they were exhausted. They were trying to be caregivers, nurses, doctors, and then get up and go to work during the day and still support their family.”

“We pieced all these programs together. We finally got everything in place where they can be parents again, which is a wonderful thing. And that’s what scares me about these budget cuts … it scares me a little bit that things might start moving backwards.”

One of those caregivers is Carmen Bailey, a certified nurse assistant and home health aide with Caring Connection. She has been working with Jessica for more than two years.

“It’s been an experience. I call her my angel. I bathe her, groom her, position her, massage her to make her comfortable.”

Carmen may be affected by the budget cuts.

“I also have to live to keep on going. I know I will still be here and whatever I need to do extra I’m willing to do it for the family and Jessica.”

Westside Regional Center is one of 21 state regional centers providing services literally from birth to death.

They work with people diagnosed as developmentally disabled, including those with cerebral palsy, epilepsy, autism and mental retardation.

Mike Danneker is executive director of Westside Regional Center.

“Our budget is in the 4 billion dollar range for about 240,000 clients in California,” Danneker says. “Westside gets about 140 million dollars a year and we have about 7200 clients.”

He believes the California budget fix will cut a half-billion dollars statewide from their budget.

“It’s going to affect everybody. Camps, therapies like art, horseback riding, some of the things people have done for decades will be gone. We’ll have to cut back the number of hours to about 300 hours a year. We estimate 40 percent of California clients have over 300 hours a year.”

Anthony Leoni has this to say about impending cuts to Jessica’s life-sustaining care.

“It’s absolutely frightening to think about what happens if the services go away. They’re absolutely essential to keep Jessica going.”

Jessica’s childhood friend Kristina Carmickle stands by her bedside.

“We did a lot of tap (dance) together, that was Jessie’s favorite. Once you have a friendship that’s big enough, you’re always wishing for the best.”

Anthony Leoni sums it up this way: “We know that there are other families that have challenges similar to us, sometimes even more dramatic than ours, and if we can serve a purpose or a role to help bring the awareness to public what it takes to take care of a family like ours, then we’re willing to make that effort.”

NIH Announces Therapeutic Trial With Supplement N-Acetyl Cysteine (NAC) To Treat Fatal Children’s Cholesterol Disease

You’ve got to LOVE supplements especially one called N-Acetyl Cysteine (NAC) when it can possibly help treat children afflicted with a rare and fatal cholesterol disease called Niemann Pick Type C (NPC). Considering there has only been only one clinical trial for Niemann Pick Type C ever conducted at the NIH (for a drug called Miglustat/Zavesca that costs about $80,000 per year, per child that is still not approved in the United States) it is quite exciting that we are starting a trial with NAC at a cost of about .20 cents per dose or approximately $350 dollars a year.

NAC is an antioxidant that increases intracellular glutathione. Glutathione issues are a known problem in Alzheimer’s, Parkinson’s and many other neurological conditions. NAC can act as a precursor for glutathione synthesis as well as a stimulator of the cytosolic enzymes involved in glutathione regeneration. What is going on with intracellular glutathione? There must be a common pathway in all of these neurological conditions that is being disrupted (possibly lipids and cholesterol?).

NAC can apparently stop people from pulling their hair out due to a obsessive-compulsive disorder called trichotillomania. Maybe I should try it? I have been pulling my hair out for months over the fact that I know there are more cheap over-the-counter supplements like NAC that could help not only NPC children, but millions of others.

Thanks NIH for helping kids with Niemann Pick Type C!  Our small community can do big things and we’ll make this NAC study a success!

Dear families and supporters of the NPC community,

We would like to inform you of a new therapeutic trial that was approved this week by the NICHD IRB. The name of this study is Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine. This study still has to be reviewed by the FDA, but we are hopeful that we will be able to start enrolling patients in September 2009. Many of you are familiar with the ongoing NPC natural history study at the NIH. As a result of this study, we have identified some promising biomarkers. Some of these biomarkers are related to oxidative stress, which leads to damage in the cells of the body. We would now like to move to the next step and begin to validate the use of these biomarkers. This clinical trial will hopefully lay the groundwork for future therapeutic trials.

This new trial will allow us to both validate these biomarkers and begin to study the ability of N-Acetyl Cysteine (also called NAC) to treat the oxidative stress caused by NPC. NAC is an antioxidant that has been safely used in a variety of medical conditions in both young children and adults. In this study, we will use an effervescent tablet that will be dissolved in water or another clear liquid and taken by mouth three times a day. This will be a blinded, randomized, placebo-controlled cross-over trial. A cross-over trial means that means that each patient will receive NAC for an eight week period and placebo for an eight week period. The placebo does not have any NAC in it, but looks and tastes like the NAC tablet. Blinding means that patients and/or parents will not know the order in which the patient is receiving the NAC or placebo during the study.

We will ask participants to come to the NIH for four outpatient visits over five months. The first admission will be a two day visit and the other three visits will require only one day. Each visit will include a history and physical exam, fasting blood draw, urine collection and a quality of life questionnaire. We will also ask patients to have blood drawn at home and sent to the NIH. Our goal is to have 30 patients complete the trial.

There will also be two “washout” periods of four weeks each, during which neither NAC nor placebo will be given. We will ask patients to discontinue any supplements or medications except for miglustat (Zavesca) or those prescribed by a physician for the treatment of a medical condition other than NPC (such as seizures, ADHD, etc.) for the duration of the study. This is the only way that we can accurately evaluate the efficacy of NAC in NPC. Other supplements such as curcumin, CoQ10 and others could interfere with the study. We just can’t get good data if there are too many uncontrolled variables.

When a new potential treatment becomes available in a rare disease like NPC, it can be very tempting for families to try it on their own rather than in a formal trial, especially one that includes a placebo. One reason for using a cross-over design was to make sure every patient received the drug during the trial. We understand this urge to try these treatments independently. However, if too many parents/patients choose to do this, we will never be able to get good information on drugs that are “off-the-shelf.” This ultimately will make NPC clinical research more difficult and slower.

The NPC Natural History study has been more successful in the past three years than we ever could have imagined. This was only possible with the incredible support from the NPC families that participated and the NPC community as a whole. We will need continued participation to move this effort forward.

Please call or email Nicole Yanjanin at (301) 594-1765 or nyanjanin@mail.nih.gov if you would like more information about the study or if you are interested in participating.

Wall Street Journal Reports on Cyclodextrin, NPC, and HIV-AIDs

Ten Tips To Start Your Own Virtual BioTech To Find Treatments For Your Rare Disease

Ever since we went public with Addi and Cassi’s cyclodextrin treatments, I have received countless emails asking me a number of questions.  How did I find the sugar compound "cyclodextrin?"  How did I manage to get the Food and Drug Administration to approve infusions of this new compound into Addi and Cassi?  As a parent advocate, would I share any knowledge I might have with others facing Rare Diseases?

Before I answer specific questions about the twins’ cyclodextrin treatments, I think it’s important to share 10 Important Lessons I have learned about the drug development process and why I have helped start a Virtual BioTech after Addi and Cassi were diagnosed with Niemann Pick Type C a year and a half ago.

Lesson 1:  Understand the drug development landscape: Most pharmaceutical companies will not be of help to you if you are facing a Rare Disease.  Here are the stats.  Approximately 7000 different Rare Diseases exist.  According to the National Institutes of Health, pharmaceutical companies have only developed treatments for 200 of the 7000 Rare Diseases!  Thousands of Rare Diseases are not being invested in by pharmaceutical companies because of small patient populations and lack of financial incentives to Pharmaceutical and Biotech companies.  This is why the NIH and NCGC have started the Therapeutics for Rare and Neglected Diseases program (TRND).  The government has to step in where Pharma and Biotech companies will not.

Lesson 2: What is in the pipeline?:  It takes 10+ years to bring a new drug to market and costs 800+ million – if a drug is not already in Phase 2 or 3 for your specific Rare Disease, it’s unlikely that there will be options for you other that what already exists.  In most cases, there will be nothing for you or your child since no drug company is going to spend $800+ million dollars on your Rare Disease.  How do you find treatments and therapies?

Lesson 3:  Create a Virtual BioTech.:  Anyone can do this.  In the case of Niemann Pick Type C disease, our family has teamed up with three other families (still looking for more to join us!) and we have pooled our resources together to find near term therapies for our children.  We named our Virtual BioTech "SOAR-NPC" or Support Of Accelerated Research for Niemann Pick Type C.  Last year, the four families raised over $1Million dollars collectively and we are pouring our money into specific NPC research projects.

Lesson 4:  Fund collaborative research teams: Currently our Virtual Biotech has 4 key NPC researchers with different skill sets working together and sharing their data.  These researchers have agreements with their respective institutions so that they can work together.   They work in different parts of the world but talk bi-monthly (before they would meet once a year at a conference) about project plans, deliverables and dividing up the research work.  This type of cooperation also reduces duplication of research efforts in laboratories.

Lesson 5:  It’s a Business. Hold Weekly Meetings: The SOAR NPC Parents group meets weekly by conference call and at least quarterly in person.   We have an agenda that we review that covers topics ranging from fundraising  to research.   Notes are taken.  We divide up tasks that need to be accomplished based on the skill sets of the team.

Lesson 6:  Project Managers: We have hired a doctor with a neuroscience background to help us understand the medical literature and he interfaces with our core set of researchers to stay abreast of all current research.   This doctor also helped us design and write the FDA protocol on cyclodextrin and is a shared resource for the families.  Parents also need to act as Project Managers depending on how much time they can devote to their cause.

Lesson 7:   A Focus on Therapies: Off Label Drugs and Supplements: Our researchers are tasked with finding near term treatments for Niemann Pick Type C affected children.  We are not focused on finding new drugs to be taken through the  pharmaceutical or biotech development process because drugs will not reach our children in time (remember it costs $800+ million to bring a new drug to market).   Rather our focus is on the library of already approved 3,000+ FDA drugs that could be used “off label” and re-purposed for our needs.  In addition, we are testing over the counter supplements that could be used to help our children today.  We have created a master drug and supplement intervention list (“our pipeline”) and have prioritized targets for testing.  Next, we test these targets in the Niemann Pick Type C mouse model or in cell based assays.

Lesson 8:  Get Involved: It’s not always possible to rely on existing non-profit Foundations to meet your personal objectives.  Understand what your Foundations are doing and where they are spending their research dollars.  For example, look at the Cystic Fibrosis Foundation which has a terrific model — they publish their drug and supplement pipeline list.  Does the Foundation supporting your Rare Disease have a drug development pipeline?  If so, ask to see it.  Some Foundations may spend their dollars on patient support while others have a focus on basic research that will not produce near term therapies for your Rare Disease.

Lesson 9:  Consider treatment options from other diseases that have more research funding: In the case of NPC, there are lots of common symptoms and pathways shared with Alzheimer’s as well as Ataxias.   A lot of research has been done in other fields that could be translated to your specific rare disease.  For example, Curcumin, a spice from Turmeric, is a good example of a non toxic supplement therapy that has shown to be beneficial in many neurological diseases.   But always do your research as there are differences between over the counter supplements. In the case of Curcumin, there is a therapeutic version developed by UCLA Curcumin experts and made by Verdure Sciences and plain over the counter that is not highly bioavaiable in your body.

Lesson 10:  Don’t take “No” for an answer: Work with people who believe in the power of “Yes.”

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