Addi & Cassi Featured in an Incredible Wall Street Journal Story

Pulitzer prize winning journalist Amy Marcus spent 6 years following Addi & Cassi, their doctors, and the science community on our journey to find treatments.  In an unprecedented 10 chapter online e-book, the Wall Street Journal has published this remarkable story.

The story (without the amazing videos, audioclips) is featured on the front page of the print version today including an amazing 2 page spread in the center of section A.

What the Wall Street Journal has done with technology is also absolutely fantastic and unprecedented in so many ways.  The story is told with beautiful “images” that are actually moving videos.  This project was an amazing effort by literally dozens of dedicated people as the credits and footnotes clearly indicate.

We are so fortunate to have the support of so many scientists, doctors, families, the NIH, the FDA and our friends at Johnson & Johnson.  As the story so beautifully illustrates, the effort to bring treatments to all NPC patients is indeed an effort of our entire community working together.

We would like to especially thank Amy Marcus for her compassionate and compelling treatment of this complex subject.

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

Cyclodextrins Can Reduce Side Effects of Cancer Drug Treatments

Each day, I learn more about the amazing benefits of cyclodextrins — novel excipients of unexplored potential. Research studies in both humans and animals have shown that cyclodextrins and their derivatives can be used to improve the drug delivery system for almost any type of drug formulation from anti-cancer drugs to anti-viral drugs.  In the pharmaceutical industry, cyclodextrins are used as complexing agents to increase the aqueous solubility of poorly soluble drugs and to increase their bioavailability and stability.

When some cancer drugs are combined with cyclodextrins, their bioavailability increases. If a drug’s bioavailability can be controlled in the bloodstream and acceptable drug levels are reached more effectively and precisely, it takes far less of a drug to produce cancer killing effects. Cyclodextrins can help make cancer treatment far less debilitating for a patient undergoing chemotherapy treatment — less of a toxic drug in a person’s system makes for less side effects.

Cyclodextrins were discovered over 100 years ago and the first patent on cyclodextrins and their complexes was registered in 1953. Here is an excellent paper outlining all the benefits of cyclodextrins which I believe has much greater potential than anyone ever imagined:  http://www.pharmainfo.net/reviews/cyclodextrins-drug-delivery-systems-update.

Crossing The Blood Brain Barrier – Does Cyclodextrin Make Its Way Into The Brain?

Dr. David Begley, one of the world’s leading blood brain barrier experts at Kings College London is working on a research project we are currently funding on cyclodextrin and the blood brain barrier. We want to answer the following question. Does hydroxy propel beta cyclodextrin (HPBCD) cross the blood brain barrier? Since less than 5% of drugs (made up of very small molecules) are able to cross the barrier and cyclodextrin is not considered a small molecule nor a drug, the possibility of cyclodextrin crossing into the brain would be remarkable.

Addi and Cassi, my 5 year old identical twins, who have a cellular cholesterol metabolism disease called Niemann Pick Type C (often referred to as the Childhood Alzheimer’s) and are being treated with infusions of the sugar compound cyclodextrin. When we started Addi and Cassi’s first few rounds of cyclodextrin infusions three weeks ago, I honestly did not expect to see much of a change because we started with a low dose. I certainly did not think my girls would start saying words again.  

To put this story in context, prior to starting the cyclodextrin infusions, Addi and Cassi had both lost their ability to talk. Addi was still trying to talk by making grunting sounds and came out with an occasional word here and there and Cassi was virtually mute. However, since starting the cyclodextrin infusions, Addi has started repeating sentences again. This type of language is called echolalia and it’s something Addi did before she stopped talking. Cassi has become more vocal as well.

In the last 36 hours, Addi has repeated the following: Good morning, That’s great, That feels better, Rosie and Gilbert (characters from a cartoon), Let’s go walking, Let’s do it, Daddy’s here, Alright, Bye Tia (to our nurse), There’s Martha (in reference to our nanny), No, Me, We, More, Where’s Addison, That’s mine, I can do it, Let’s put them in the garbage can, Open, I Love You and Let’s have breakfast. Cassi has only managed a few words over the past few weeks but is making a lot more sounds with different pitches instead of a single low hum.  (Note: Cassi has never talked as much as Addi and her speech was lost a few months before Addi’s).

I can’t express in words what it’s like to hear your child talk again. When my husband walked into the hospital room and Addi repeated ‘Daddy’s here" his eyes welled up with tears. Our nanny Martha has been with our girls since birth and it’s been six months since Addi has said her name. Yesterday, Addi clearly said "Martha" twice. In addition to the spike in speech, the girls also seem happier, appear to have a slight improvement in head control (when rested) and their eye contact appears better.

I have noticed a few more "stare off" spells with Addi (possibly absent seizures?) but I am not sure if these have increased or if I am just paying more attention and noticing them more. The girls have experienced speech improvements previously when starting antibiotics (Amoxicillin and Septra). But the improvements did not last. There seemed to be a honeymoon period after starting the antibiotics and then the improvements stopped after 3-4 weeks. I have never received an answer from a doctor or researcher as to why antibiotics had a short term benefit for my girls, but they did.

To everyone’s delight, Addi and Cassi are experiencing neurological improvements on cyclodextrin. Since they are identical twins and are both improving, this leads me to the conclusion that cyclodextrin (HPBCD) is having some sort of effect on cellular cholesterol accumulation — either it’s crossing the BBB or somehow creating a siphon effect in the body and pulling cholesterol out of the brain? 

Dr. Begley will need to explain to the research world what cyclodextrin is actually doing and I can’t wait for his research work to finish. Cyclodextrin is very exciting and promising, not only for Addi and Cassi and other kids impacted with Niemann Pick Type C but for the scientific community in general.   I am starting to wonder what cyclodextrin could do for people suffering from atherosclerosis and if it would help eliminate the build up of plaques in the arteries?  Also, several lines of evidence have implicated a role for cholesterol in Alzheimer’s disease. I urge scientists working on diseases involving cholesterol pathways to spin up experiments with cyclodextrin (HPBCD).

Cyclodextrin As A Therapeutic “Drug” For HIV AIDS, Niemann Pick Type C and other Viruses

Addi and Cassi’s first round of cyclodextrin infusions have been going smoothly at Renown Regional Medical Center in Reno, Nevada.   We’re now into our third day of continuous infusions of hydroxy propel beta cyclodextrin (HPBCD) into the girls’ bloodstreams and they don’t seem to be experiencing any negative side effects.    I feel as if it’s having a positive and immediate effect.  Addi was talking yesterday afternoon and stringing together more than one word — “I like my toys, I’m brave enough, I need your help, “Bye” to Dr. Hastings, and “Ad” for her name Addison.  Even Cassi came out with a few words – “Mommy, No.”     This is quite encouraging to us but we’re not yet sure if it’s a result of the cyclodextrin treatment.

Addi and Cassi’s blood work-ups have come back “normal” following the cyclodextrin infusions.  There was a slight elevation in both girls’ eosinophils after 24 hours but it was minor.   We also had to change Addi’s port access needle as it was not working properly and we were unable to draw blood.   Unfortunately, we had to re-install the needle on her chest without any numbing cream.  Ouch!

I found out this morning that researchers were looking at the same cyclodextrin (HPBCD) and Niemann Pick Type C disease back in 1996 — 13 years ago!   I received this information from a scientist in Europe and I almost had a heart attack when I read the scientific abstract.

Somehow cyclodextrin research as it relates to Niemann Pick Type C was not thoroughly pursued with all angles exhausted by scientists.   This simply can not happen again — not only for Niemann Pick Type C disease but for HIV/AIDS and potentially other viruses like Herpes that are inactivated and killed by cyclodextrin.

I worry about the future of cyclodextrin research.  We can’t count on pharmaceutical companies to research cyclodextrin or bring therapeutic products with cyclodextrin to people as they are focused on profits and patents on new drugs that take millions of dollars and years to make.   Cyclodextrin is an inexpensive and non-toxic compound that can be deployed tomorrow — far too EASY!   But the HIV/AIDS pharma companies should be watching cyclodextrin very closely.  I believe the smart ones will start investing into research and try and create new patents around cyclodextrin since the Niemann Pick Type C cholesterol gene/protein on Chromosome 18 is the culprit in HIVs ability to assemble itself in the human body.

It’s time that the National Institutes of Health (NIH) Office of AIDS Research or the Centers For Disease Control and Prevention or some other government agency steps in and redirects money into cyclodextrin research to study this potentially life-saving compound that has very broad applications.

I am also asking for help from private citizens and global foundations such as The Gates Foundation, The Clinton Foundation, Elton John AIDS Foundation, amfAR and One.org to step in and help by taking a closer look at cyclodextrin and it’s relationship to cholesterol metabolism and killer viruses like HIV/AIDS.   We must make sure cyclodextrin is properly tested as a therapeutic agent whether money can be made from it or not (which is can be!)

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