Extraordinary Measures Movie Is A National Healthcare Wake Up Call

Extraordinary Measures, a new movie centered on the efforts of John and Aileen Crowley to find a researcher who might help find a cure for their two children’s rare genetic disease (Pompe Disease), will hit theaters on January 22. I can’t wait to see this movie!  The trailer sounds eerily familiar as we are working around the clock to find our own miracle for Addi and Cassi and kids suffering from Niemann Pick Type C disease (a rare and fatal cholesterol disease that is often referred to as the “Childhood Alzheimer’s.”)

I hope this movie is a wake up call to the NIH, FDA, Congress and other government agencies — people must understand what is happening to families facing fatal Rare Diseases. Like the Crowley’s, we are not going to sit around and wait for our kids to die.  But everyday it is a battle with hurdle after hurdle to cross to make the slightest progress.

Thanks to The Crowley’s for being an inspiration to all families fighting Rare Diseases and for CBS Films for making what looks like an amazing movie.  The website they created for the film has an “inspiration quilt” which allows you to upload your personal story.  I uploaded the Addi and Cassi story about our efforts to create a “Virtual BioTech” — please vote for us as we could use the money for cyclodextrin research!   (Vote now and help The Addi and Cassi Virtual Biotech win $10,000).

Please support the goals of CureTheProcess.org, an effort being organized by the Kakkis Everyday Life Foundation.  Our healthcare system needs a miracle too.

Also, join the Global Genes Project and download your denim jeans ribbon — the new symbol for Rare Diseases!

Join Global Genes Project and Get Your Denim Ribbon To Support World Rare Disease Day 2010

World Rare Disease Day 2010 will be held on February 28.  Please join the Global Genes Project to help raise awareness for Rare Diseases of all types by wearing denim on Feb. 28 or holding an event in your local area to raise money for your favorite Rare Disease charity (my party will be to raise money for Niemann Pick Type C!)

According to the National Institutes of Health (NIH), 1 in 10 Americans suffers from a Rare Disease — that’s 30 Million people in the US alone! Collectively, Rare Disease is not so Rare!  Join our campaign to help raise awareness by downloading your jean ribbon today and spreading the word!

Here are some facts on Rare Disease that you may not know:

• A Rare Disease is life-threatening or chronically debilitating disease which is of such low prevalence that special combined efforts are needed to address them (ie. such as Niemann Pick Type C disease which afflicts our twins Addi and Cassi)
• 50% of the identified Rare Diseases have no foundations, support groups or community support for the families
• Approximately 7000 different Rare Diseases exist, with countless awaiting researchers to identify
• Today, 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
• Pharmaceutical companies have only developed treatments for 200 of the 7000 rare diseases causing a healthcare crisis
• Approximately 75% of Rare Diseases affect children (22.5 million in the US)

Let’s never give up Hope! It’s In our Genes!

How Cyclodextrin Solution Is Made For Addi and Cassi’s Intravenous Cyclodextrin Therapy

A number of people from around the world who have children diagnosed with the fatal cholesterol disease called Niemann Pick Type C  have asked me how our we prepare our cyclodextrin solution for Addi and Cassi’s bi-weekly IV infusions of the compound.

All hydroxy propel beta cyclodextrin (HPBCD) is not the same. It’s very important that you make sure that the cyclodextrin that is purchased is endotoxin controlled and does not have propylene glycol in it or other impurities. Essentially propylene glycol is anti-freeze – not exactly what you want to put into kids!

We purchase our cyclodextrin from CTD, Inc., which is located in High Springs, Florida. The owner of CTD is extremely knowledgable when it comes to cyclodextrins and sells many different types of cyclodextrin products.  The cost for his HPBCD is about $5 USD per gram.

I am still working to try and make a solution that can be bottled and sent worldwide. As you can imagine, this takes time since we have no pharmaceutical company helping us with this effort.

When the girls receive their infusions, there is a basic filter that the cyclodextrin funnels through (this is simply as a precaution).  The filter is attached to the infusion line and as the cyclodextrin drips through the plastic line it goes through this little blue filter. I will try and find out the name of the filter we use.

We are currently looking at different ways to get cyclodextrin into the body — possibly through regular subcutaneous injections as well as intrathecal methods to get cyclodextrin directly into the brain through the spinal canal.  We are actively pursuing both ideas now on how this would be possible for Addi and Cassi.

I continue to be very happy with how the infusions are going.  The most difficult part so far has not been giving them cyclodextrin — it is being at the hospital for 2x a week all day long just sitting there watching cartoons. I am hoping the FDA will approve us to do infusions in a home setting (hopefully at night when they are sleeping) as we have not experienced any side effects.  We are at 2500 (yes, 2500) mg per Kg BW and the infusion lasts 8 hours.

Addi and Cassi seem to be a lot more alert and aware and have better balance and head control!   I pray we can speed up research on cyclodextrin and determine the mechanism for how it’s working.

For more information on Addi and Cassi’s cyclodexrin protocol, you can view our FDA compassionate use filings here.

Beware of Air Oxidized NAC Supplements – Pharmaceutical Grade N-Acetyl-Cycsteine (NAC) Boosts Glutathione Levels

Many papers have been published showing that people with diseases of all kinds might have problems with glutathione production in the body. In Addi and Cassi’s case, their fatal cellular cholesterol disease called Niemann Pick Type C is somehow disrupting their glutathione levels in their bodies. Over the past 9 months, we have been trying to correct this problem in the twins through administering a range of supplements.

But how do you go about picking the right supplement to increase glutathione levels in the body?  When you do Google search, hundreds of products pop up all claiming to produce instant results. Through my research, I have learned that raising glutathione levels in the body is not so easy. Simply taking Glutathione itself will not work.

Glutathione (reduced state is called GSH) is an important intracellular free radical scavenger protecting cells against oxidative stress. It is considered one of the body’s primary antioxidants and is produced naturally from three amino acids: Glycine, Glutamine, and Cysteine. Glycine, Glutamine, and Cysteine are considered precursors of glutathione.  Precursors are compounds that participate in the chemical reaction that produces another compound.

N-AcetylCysteine, otherwise know as NAC, is the leading precursor to increasing glutathione levels in the body and can help replenish intracellular GSH levels. Once NAC enters the body, it is metabolized into glutathione. Glutathione can then function as the powerful antioxidant that it is.

All NAC supplements are NOT the same. The problem I have run into with most over the counter NAC supplements is their packaging. NAC is a strong thiol-bearing compound prone to air oxidization. Once you open the bottle you bought on the Internet, the product has likely degraded since the time it was on the manufacturing line.  Bioavailabilty (the amount that actually gets into your body) is likely low.

There is a company called BioAdvantex in Canada that makes a pharmaceutical grade NAC supplement that comes in an effervescent tablet form (see photo).  Think of an Alka Seltzer with a wild berry flavor. Each PharmaNAC fizzy tablet is individually wrapped in a special paper/plastic/foil material to keep moisture and air from entering the package.  The manufacturing process is very well controlled to produce the most bioavialable form of NAC on the market today.  Each tablet comes in 900mgs which I like.

PharmaNAC is more expensive than other forms of NAC on the market.  You can purchase it online at a cost of about $1 dollar a tablet.  This is well worth the price because I don’t want to be putting supplements into my twins that have little chance of helping them.

I also found this useful list of sources that may boost glutathione levels in the body naturally.  Interestingly, one is called Curcumin, another compound I give to Addi and Cassi.  Curcumin has some of the same issues as NAC in that all supplments on the market are not the same.   I use the Curcumin developed by Dr. Greg Cole and Dr. Sally Frauchy at UCLA and made by Verdure Sciences — this is the most bioavailable form of Curcumin that I am aware of.

Does XMRV Use Cholesterol to Survive in the Body Like HIV-AIDS? What XMRV Infected Twins May Teach us about the Virus.

You know the old saying, “trust your instincts?”  When you get a “gut feeling” about something, pay attention to it.  Ever since Addi and Cassi first became ill with a flu like virus in 2005, my motherly instincts kicked into overdrive.

After months of being sick, I was told by Stanford doctors that Addi and Cassi were infected with a “chronic infectious mononucleosis type of syndrome.”  I never believed this to be the ultimate cause of their medical issues so I kept searching for the reason they were running into walls and falling down all the time.

In October 2007,  it was confirmed through genetic testing that Addi and Cassi have Niemann Pick Type C disease, a fatal cellular cholesterol disease that is often referred to as the “childhood Alzheimer’s.”  So why am I writing about XMRV?

Despite our NPC diagnosis, I have always believed that the virus that attacked us in 2005 was also impacting my twins’ immune system. For the past few years, I have pestered our doctors and researchers with the idea that the virus was still wrecking havoc in the girls’ systems.  No two children could possibly get all the viral infections they have contracted such as HerpesB, RotaVirus, MRSA, Coxsaxie Virus, Hand Foot and Mouth, etc.  No one seemed to believe me as there is no known immune system problem in Niemann Pick Type C disease. Or if they did believe me, they had no idea how to help.

In September 2009, I learned the truth about what else is impacting my twins’ health.  Addi and Cassi have been diagnosed with an active infection of the newly discovered retrovirus called XMRV, or Xenotropic murine leukemia virus-related virus (confirmed by two labs). XMRV has been linked to Prostate Cancer and Chronic Fatigue Syndrome and millions of people are infected with it just like Addi and Cassi and don’t even know it!  Scary!

I’m not sure whether to be sad or happy about the XMRV news. Sad because my girls are not only fighting a fatal cholesterol disease but a virus on top of it or happy because I feel vindicated and finally know the full scope of what I am dealing with.  I feel like screaming out, “I told you so!”

Here is a sampling of a few of my emails to doctors and researchers that I dug up from my Sent Mail:

“I was told their immune system is normal with response on testing but there is NO WAY it is normal.  No way.  It is not normal!”

“It’s unbelievable is all I can say.  Bizarre.  Also, they continue to not be able to get viruses under control – this is an ongoing issue.  I am wondering if their white count has dropped again?  I have cced Dr. Porter on this email – maybe he has some ideas? I also want him to know about this virus issue – they just can’t fight off the most basic of things.”

Since receiving the devastating news that our girls have Niemann Pick Type C disease, we have appeared on TV shows like The Doctor’s and DATELINE to educate people on the disease and explain what it’s like to deal with two 5 year old kids with dementia. The good news is that some people do listen.  Dr. Judy Mikovitz of the Whittemore Petersen Institute in Reno, Nevada (where I live) heard of my complaints of a “viral illness” striking our family in 2005.  She offered to do some testing.  At first nothing turned up, but I remained persistent in trying to get to the bottom of what was going on.

“Annette, I hope you are doing well.  I am so sorry I have not been in touch but I have been swamped with working with our doctors and the FDA to treat the girls with cyclodextrin. Last year, Judy ran some special testing on Addi and Cassi. I know that whatever she tested turned out negative but I am wondering what she was looking at.  Did she look at NKT cells by chance (see attached)? Something is going on with the girls’ immune systems and I am trying to get to the bottom of it. The HIV/AIDS researcher I am working with thinks that there is something going on with transcription factors and t-cells.”

“Chris, last year we looked at inflammatory cytokines and chemokines and the Rnase L activity. The cytokines and chemokines were within the normal adult ranges (though we know nothing about ranges in small children). The RNase L activity was high but that is consistent with active infection (EBV?). We only had 6 mls of blood so we could not do the panel of immune cells NK and NKT or the important T cell component. We would like to do these studies and now that we have the LSR (18 color flow cytometer up and running) we could do an in depth immune profiling. I would also like to look at the girls’ immune system in light of a recent new discovery made here at the WPI (but not yet public knowledge). If possible could we get ~15 mls from the girls this week? We have a window of opportunity before the holiday and vacations and would be delighted to do all the testing here at the WPI lab that you visited last year Applied Research facility Rm 401 on Evans. We can also pick up the blood at your convenience.”

I provided Dr. Mikovits with additional blood samples from the twins. Sure enough Addi and Cassi tested positive for an active infection of XMRV.  One twin (Cassi) tested with more severity. Cassi is the same twin that had more severe symptoms at the onset of contracting the virus. There must be something here to research further.

Interestingly, for the past year and a half I have been working with a leading HIV-AIDS researcher who discovered that the HIV-AIDS virus (also a retro virus like XMRV) uses cholesterol and the Niemann Pick Type C gene to do its dirty work in the human body. I am wondering if XMRV utilizes cholesterol and lipid rafts to do its dirty work and whether the Niemann Pick Type C gene could help the XMRV virus assemble in the body like it does with HIV-AIDS?

What most people don’t understand is that all people on the planet are born with the  Niemann Pick Type C gene.  This gene on Chromosome 18 regulates human cholesterol metabolism at the celluar level.  Addi and Cassi have two genetic defects on their NPC gene, causing their fatal cholesterol illness.  Only 500 children in the world have the double mutation on their NPC gene.

I believe the NPC gene might play a role in XMRV.  If it does, I am certain that Addi and Cassi’s active infection of XMRV will teach us something about how the virus replicates in the human body.  Addi and Cassi’s XMRV infection would not replicate and move within he cells the same way as a person who does not have genetic defects on the NPC cholesterol gene.  In fact, Addi and Cassi’s XMRV virus might be less severe than someone without the genetic defects (which makes me feel so sorry for so many people because XMRV has caused us major issues!).

The odds of identical twins having Niemann Pick Type C disease AND and active XMRV infection probably could not be calculated.  I can tell you that they are the only identical twins on the planet with NPC and XMRV.  Even though Addi and Cassi can no longer remember how to talk, I feel like they are screaming out to everyone too!

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