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!

Nobel Prize Winning Cholesterol Researchers Brown and Goldstein Enter Cyclodextrin Field Of Study

I wonder how many smart cholesterol researchers have Google Alerts set up on Brown and Goldstein Labs?  If they do they might want to read this post about the Nobel Prize winning labs release of a very important cholesterol paper involving cyclodextrin and its modulation of cellular cholesterol metabolism.

With their amazing new research work, Brown and Goldstein have shown that cyclodextrin (hydroxy propel beta cyclodextrin or HPBCD) reverses the block in cholesterol movement out of the lysosome in cultured cells of both the mouse and human Niemann Pick Type C fibroblasts.  The papers are here:

Brown and Goldstein Paper – Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport in Niemann-Pick type C cells

Brown and Goldstein Supplemental Information on Niemann Pick Type C, Cholesterol and Cyclodextrin

For those of you who have no idea what I am talking about, this is very big news in the world of cholesterol research. It’s not every day that Nobel Prize winning cholesterol scientists publish papers on a non toxic sugar compound that is the main ingredient in Febreze air freshener and  fat free food products like butter.

How on earth can cyclodextrin be entering the cell and the lysosome and reversing the Niemann Pick Type C cholesterol genetic defect that is trying to kill our twin daughters?

In this paper, Brown and Goldstein say that the mode of action of cyclodextrin is still unknown. This is remarkable to me because the most famous cholesterol researchers on the planet have been unable to figure out this scientific puzzle. When this is all sorted out, I think a whole new wave of drugs will be developed with this compound that everyone has thought is benign!  I hope it happens fast because this compound could save my girls’ lives.

In conjunction with this news from Brown and Goldstein, Addi and Cassi’s lysosomes are shrinking in size since receiving their cyclodextrin IV infusions.  Measurements of Addi and Cassi’s lysosomes were done with a special assay developed at Oxford University. But is cyclodextrin really crossing the cell membrane and going into the cells in living people?   The previous research on cyclodextrin would say it acts outside the cell membrane.

Addi and Cassi are now six months into their cyclodextrin infusions which were approved by the FDA under “compassionate use” IND applications.  Addi and Cassi are doing quite well with no apparent side effects (except positive effects like better balance and coordination and increased concentration and awareness). But how can this be happening if cyclodextrin does not get through the blood brain barrier?

The data in the twins’ lysosomes  indicates what Brown and Goldstein has found in mice and in cell culture/ fibroblasts could be happening inside Addi and Cassi’s systems as well.  Our next step will be to apply for Orphan Drug Status with the FDA for Cyclodextrin after Thanksgiving.  I am also working with doctors on ways to get cyclodextrin across the blood brain barrier.  I am currently pursing a path to get Cyclodextrin into the CSF of Addi and Cassi.  I think if we can do this we have a better chance to save them from this horrible cholesterol disease that is destroying their brains and causing dementia.

We are going to apply for a FDA grant in February 2010. Cyclodextrin kills the HIV-AIDS virus too.  If we can get the goverment to keep and open mind and get more researchers studying this compound, the possibilities are endless.

ResearchMatch.org Is Cool -The Idea, the Website and even the Logo! Is This Really From The NIH?

Great news from the NIH today — a new service called ResearchMatch.org was announced.  ResearchMatch.org is a national research study recruitment registry announced to help match volunteers with researchers who want them to participate in research studies.

The registries matching model compliments Clinicaltrials.gov (a website that needs a serious facelift!) but  has one fundamental difference. ResearchMatch.org places the burden of connecting the right volunteers with the right study on the researchers, whereas Clinicaltrials.gov asks volunteers to identify the trials that could work for them.

I am going to have my entire family sign up to be part of ResearchMatch.  Imagine if everyone did the same. Researchers could easily find people to participate in studies which in turn would speed up finding treatments and cures for diseases.  One of the biggest problems in research studies today is that a certain number of people are needed to participate in order to find answers but often times there are too few volunteers.  This is a problem we face in Niemann Pick Type C disease — with only 500 children in the world with the disease we have limited volunteers and a small cohort for clinical studies.

Many things created by our government tend to be overly complicated or fall short of their promise. However, ResearchMatch is a smart idea and the website is user friendly and easy to navigate.  In fact, the website is so nice compared to other government websites I have visited that it actually looks like someone in the private sector created it!  Even the logo is cool!

The process to sign up to participate in ResearchMatch was simple and took me about 5 minutes to complete. Anyone can join too — many research studies are looking for healthy volunteers or “controls.”

Join today and spread the word and contribute to the greater good — https://www.researchmatch.org/

Woman Born With Half Brain Gives Everyone Hope – Michelle Mack An Inspiration For All Suffering From Brain Disease

CNN is reporting tonight on Michelle Mack, a woman born with half her brain who is leading a normal life!  According to scientists, her brain has re-wired itself!

This story took my breath away.  If someone can be born with half of a brain and live a normal life, then kids like Addi and Cassi who are suffering from a fatal neurodegenerative dementia disease called Niemann Pick Type C might be able to re-wire their brains if we can stop the degeneration from happening.

How about people who have Alzheimer’s and Parkinson’s — could their brains re-wire if the degeneration stopped?

Michelle Mack and family — thank you for going public and telling your remarkable story.  You give hope and provide inspiration to so many people who care about the brain.

Embed video is not working on CNN so here is the video link and story:
http://www.cnn.com/2009/HEALTH/10/12/woman.brain/index.html#cnnSTCVideo

FALLS CHURCH, Virginia (CNN)  — Michelle Mack has turned medical thinking upside down. The right side of Michelle Mack’s brain rewired itself to take over functions controlled by the left.

The right side of Michelle Mack’s brain rewired itself to take over functions controlled by the left.

Born with only half a brain, Mack can speak normally, graduated from high school and has an uncanny knack for dates.

At 27, doctors determined that the right side of her brain had essentially rewired itself to make up for function that was likely lost during pre-birth stroke. But her childhood and young adult years were fraught with frustration.

“It was very hard for me,” Mack said. “It was very hard for me growing up. No one knew the truth about my brain.”

Mack’s parents, Carol and Wally, realized shortly after her birth that something was wrong.

“There wasn’t a group to turn to,” said Carol Mack. “Michelle didn’t have cerebral palsy, I knew that. She didn’t have Down’s syndrome, I knew that. I had no place to turn.”

Ten years ago, Dr. Jordan Grafman, chief of the Cognitive Neuroscience Section at the National Institutes of Health, finally diagnosed the problem. Video Watch how Mack’s brain healed itself »

An MRI scan revealed she was missing nearly half of the left side of her brain. While it was clear Mack has some problems, Grafman said he and the family were shocked by the extent of the damage.

“We were surprised to see the extent of the lesion in her brain, which basically took away the left side of her brain,” said Grafman. “There’s some very deep structures remaining, but the surface of her brain, the cortex is 95 percent gone and some of the deeper structures, structures that control movement, are missing. These are all structures that are important for movement, behavior, cognition.”
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The only answer, Grafman said, was that Mack’s brain has rewired itself. The remaining half took over some of the essential functions that are normally done by the left, such as speaking and reading. That rewiring, however, came at a cost.

“Michelle has fairly normal language abilities, certainly basic language abilities, she can construct a sentence, she can understand instructions, she can find words when she’s talking, but actually she has some trouble in some aspects of visual-spatial processing,” said Grafman.

“It’s quite possible that in her learning, in her development, when the right hemisphere either took over or developed some of the language abilities that it cost her in some of the skills that are normally mediated by the right side of the brain,” added Grafman.

In the 10 years since Grafman first diagnosed Mack, she has seen some intellectual functions improve, the doctor said. Recovery has not been perfect, however. Mack still struggles with abstract concepts and becomes easily lost in unfamiliar surroundings.

The diagnosis explained why Mack had experienced a lifetime of difficulty controlling her emotions.

“He’s helped us understand the reason why I tend to throw fits, temper tantrums,” she said. “It was because I was missing half my brain.”

Mack will always have some problems, but dad Wally Mack said that Grafman’s diagnosis and treatment answered a lot of questions and gave him hope.

“Dr. Grafman explained that the right hemisphere is taking over, and it might take her a little while longer to get there with all the rewiring that has to take place,” he said. “But that told us all these bad days are behind us and there are nothing but good days ahead.”
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Michelle Mack is now 37 and lives with her mother and father. She works from home doing data entry for her church. She is fairly independent, pays rent and can do most household chores. She realizes she’ll need help for the rest of her life but wanted to tell her story to make it clear that she is not helpless.

“I wanted to do this so people like producers, photographers and security guards and police officers learn about people like me,” she said, “that I’m normal but have special needs, and that there are a lot people like me, so that they could be more understanding.”

Kids Helping Kids: 5-year old Singing Sensation Kaitlyn Maher To Perform To Help 5-year old Twins Who Have Lost Their Voices From Dementia

Five year old singing sensation Kaitlyn Maher, who became the youngest person ever to make it into the Top 10 as a Finalist on NBC’s hit show, America’s Got Talent, will be coming to Reno, Nevada, October 3, 2009 to be the opening act at the Grand Sierra Resort benefiting the The Addi and Cassi Hempel Fund.

Kaitlyn will be performing to help raise money for Addi and Cassi Hempel, 5 year old identical twins, and other children around the world who are afflicted with a rare and fatal childhood dementia called Niemann Pick Type C.  Addi and Cassi and many other children like them can no longer talk or sing their favorite songs due to their deadly illness.

The event called “An Evening of the Stars,” will also include performances by Nevada Entertainer of the Year and master musical impressionist Greg London of the hit show “ICONMAN” and Paul Salos, world famous Frank Sinatra impersonator who like Kaitlyn was also a 2008 finalist on America Got Talent.

Kaitlyn has performed live on the nationally televised 2008 Lighting of the National Christmas Tree ceremony at the White House and at the 2009 National Cherry Blossom Festival chaired by First Lady Michelle Obama. She has also sang the National Anthem and “God Bless America” at the Washington Nationals Major League Baseball game.  In addition to being one of the headlining acts at the McDonald’s Christmas Parade in Orlando, FL, she has appeared on the Today Show, Access Hollywood and was featured in People magazine.

Currently, Kaitlyn is working on a CD for release in the fall of 2009 and recently finished recording her first Disney role in the upcoming movie Santa Buddies scheduled for release during the Christmas holidays later this year.

In 2008, The Addi and Cassi Hempel Fund event drew over 1,000 people and helped raise close to $500,000 dollars for research into “Childhood Alzheimer’s.”

Tickets for “An Evening of Stars” 2009 are on sale now and can be purchased online.

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