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!