Apo E Gene and Diet
April 4, 2009 by Chris Hempel
Filed under Genetics
All afternoon, I have been thinking about the Apo E cholesterol-related gene and what combination of Apo E genes each person in our family inherited. The Apo E gene provides instructions for making a protein called apolipoprotein E and it is located on Chromosome 19. This protein combines with fats (lipids) in the body to form molecules called lipoproteins. Lipoproteins are responsible for packaging cholesterol and other fats and carrying them through the bloodstream.
Some research suggests there is a connection between the Apo E gene and Alzheimer’s and dementia. I found out that Addi and Cassi have Apo E gene is 3/3, which is considered "neutral" so this doesn’t explain their dementia. I think their problems have more to do with insulin factors (they have a glucose metabolism problem in frontal lobe of their brains), oxidative stress, and inflammation and the interaction between genes and nutrients/vitamins.
Research suggests that Apo E genes can influence your predisposition to certain illnesses from Alzheimer’s disease, Parkinson’s disease, heart disease and cancer. I read that persons with the Apo E 4/4 genotype could have up to a 90 percent chance of developing a chronic illness such as Alzheimer’s. The Apo E gene occurs as three variations in your body: Apo E 2, Apo E 3, and Apo E 4. Since genes come in matching pairs, we inherit one from each parent. There are six possible combinations of Apo E gene pairs: 2/2, 2/3, 3/3, 4/2, 4/3, and 4/4.
The Apo E gene could be a factor affecting how your body uses different types of foods and nutrients and different Apo E genotypes likely process foods differently. There is an interesting book on this topic called The Apo E Diet.
Over the next few weeks, I will be working to have personal genetic testing done on our entire family and we will find out how our Apo E combinations might play a role in our health.
Dear British Media – Feel Free To Call or Email!
March 26, 2009 by Chris Hempel
Filed under Addi and Cassi News
Dear British Media:
Thank you so much for your interest in our daughters, Addi and Cassi, and their fight against Niemann Pick Type C disease, a fatal cholesterol disorder that is often referred to as the “childhood Alzheimer’s.” There have been two stories that were written today regarding Addi and Cassi’s cyclodextrin sugar treatment and we can’t thank you enough for bringing this important health story to the attention of people in the UK.
Unfortunately, there are some incorrect facts in the stories (see below) that are now appearing online. It also would have been courteous to contact us and conduct fact checking. We realize that it’s a competitive media environment and you are in a world of meeting daily deadlines but we do not appreciate being quoted in stories when words did not come directly from us. We are more than happy to tell our story to the world (we are trying to do this all the time through our website!) and you can call or email us any time day or night as our contact information is on our website.
Again British media, thank you for getting the word out on Niemann Pick Type C disease. While considered a “rare disease,” Niemann Pick Type C disease could have implications for millions of people. The Niemann Pick Type C gene on Chromosome 18 is a very important gene in the human body – we all have this gene and it appears to regulate people’s cholesterol at a cellular level. We hope that more discoveries regarding the NPC gene will come out soon.
The Evening Standard:
Correct facts:
• Our names are Chris and Hugh Hempel. Chris is Mom, not Dad, as you have reported in your article
• Our children’s names are Addison and Cassidy, we refer to them as Addi and Cassi – no “e’s” at the end of their names
• The US FDA did not give the approval to us today to start these treatments on our children – this was approved a few weeks ago and we are in the process of gearing up for the treatments
• Children’s Hospital of Oakland California is not conducting the actual infusions – mediports for the sugar infusions were surgically installed at this hospital. Cyclodextrin infusions will take place at Renown Regional Medical Center in Reno, Nevada, USA. We are working towards the infusions right now and hope to start in a week or so
• We have no idea if cyclodextrin can help Alzheimer’s patients as was quoted in your story. However, this is an interesting idea and cyclodextrins amazing properties should be looked into further
• Doctors did not discover cyclodextrin, researchers at UT Southwestern University in the United States have reported on cyclodextrins effects in NPC mice
Telegraph:
Correct facts:
• Niemann Pick Type C does not only impact children, it impacts adults too and there are a number of adult cases in the UK. Children experience dementia, tangles and other symptoms that are similar symptoms seen in Alzheimer’s disease. Possibly the two diseases are related to disruptions in lysosomal function in the cell? Why are Alzheimer’s researchers not looking more at NPC and Lysosomal Storage diseases??
• The proper spelling for the disease is Niemann Pick Type C, not Niemann Pick’s
• Did you find quotes from Chris from previous videos on our website? Feel free to contact us and we will be happy to give direct quotes that are current
• This is not the world’s first treatment – we actually provided all of the cyclodextrin information we submitted to the US FDA to a family in India and Lebanon. Cyclodextin infusions have been started on two children in these countries based on our ground work. Due to the fact that these countries do not have the same types of restrictions that we have in the United States, these families have been able to start over 1 month ago! This will be the first time in the US this will be tried
Again, thank you for starting the education process on Niemann Pick Type C disease. Please pray for all who have this horrible and devastating illness that is stealing their minds.
President Obama, Please Meet Addi and Cassi To Understand Why Your Jay Leno Joke Is No Laughing Matter
March 21, 2009 by Chris Hempel
Filed under Opinion, Rare Disease
President Obama’s Special Olympics joke on Jay Leno may not seem like a big deal to some Americans but for others the gaffe is disappointing. Our twins, Addi and Cassi, are afflicted with a rare and fatal cholesterol disease called Niemann Pick Type C and they are considered “special needs.” We have all made mistakes with words or put our foot in our mouth from time to time. President Obama is human too and must be forgiven by the special needs community for his off hand joke. Of all people, our President understands what it’s like to live in a society where stereotypes abound and hopefully he will turn this negative situation into a positive.
What’s frustrating to me is that all special needs children seem to get lumped into one category — “retarded” (a word that should be forever removed from our vocabulary). Children with Ataxia-Telangiectasia are born healthy but completely lose their entire motor coordination control center in the cerebellum. Their minds remain intact but they progress to wheelchairs and often die in their teens. Someone on the street would think a child with A-T is intellectually challenged when they are not. Many children who fit into the special needs category have life threatening and debilitating diseases like Addi and Cassi – they are called Rare Diseases.
Millions of people, primarily children, are afflicted with Rare Diseases that are often genetic in origin. President Obama needs to educate himself quickly and learn what it truly means to be special in America. He will then learn to laugh with us and not at us. More importantly, President Obama can not only help us overcome stereotypes but he can invest in much needed medical research that can keep our special kids alive.
World Rare Disease Day 2009 Genes Video
February 2, 2009 by Chris Hempel
Filed under Rare Disease, Videos
I made this video for World Rare Disease Day 2008 to bring global attention to the fact that Rare Disease is not so rare — it can happen to anyone or any family. Although each Rare Disease affects a small number of people, taken all together rare diseases affect millions of people in the world. The Genes video focuses on genes, which we all have, and how any of us could have a genetic disorder.
Why Rare Diseases Will Help Us Solve Common Diseases
January 9, 2009 by Chris Hempel
Filed under Health Care Policy
The Key To The Closet Is The Key to the Kingdom: A Common Lesson of Rare Diseases
How can understand more about the most common diseases that affect mankind. By looking at the rarest diseases. This story takes us back……
Nearly twenty centuries ago, the Roman poet Juvenal wrote in The Satires about “a rare bird comparable to a black swan.” The notion of rarity enticed the mind in antiquity, and continues to do so in modernity – in medicine and in our daily lives. What are the lessons of rarity and specifically of rare diseases? Let us look closer and observe.
The place was London. The date – April 24, 1657. A letter arrived at the home of Dr. William Harvey, a man whose life was distinguished by one of the greatest discoveries in the history of medicine, the discovery of the circulatory system. But, the letter to Dr. Harvey from a Dutch physician, John Vlackveld of Harlem, had nothing to do with common problems of the heart or blood or circulation. The letter invited Dr. Harvey’s attention to the case of a gentleman with an extremely rare affliction of the urinary bladder. Dr. Harvey was old and in failing health, and could not assume the challenge, but he clearly recognized the value of such a noble pursuit. He reached for a piece of parchment, dipped his pen in the inkwell, and wrote these words: “Learned Sir, your much esteemed letter reached me safely in which you not only exhibit your kind consideration of me, but display a singular zeal in the cultivation of our art. The case of the plasterer to which you refer is indeed a curious one, and might supply a text for a lengthened commentary. But, it is in vain that you apply the spur to urge me at my present age to gird myself for any new investigation.”
While unavailable, Dr. Harvey, however, was not disinterested. He continued the letter in what might arguably be one of the most prophetic passages ever written in the history of medicine:
“It is even so,” he wrote, “Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature by the careful investigation of cases of rarer forms of disease. For it has been found in almost all things, that what they contain of useful or of applicable nature, is hardly perceived unless we are deprived of them, or they become deranged in some way.”
Centuries later, in an address delivered to The Medical Society of London on May 21, 1928, Sir Archibald Garrod, the father of metabolic disease, cited that monumental letter from William Harvey. In an engaging essay entitled, “The Lessons of Rare Maladies,” published in The Lancet the following week, Dr. Garrod paraphrased, “The study of nature’s experiments is of special value; and many lessons which rare maladies can teach could hardly be learned in other ways.”
Francis S. Collins, M.D., Ph.D., (Former) Director of The National Human Genome Research Institute said more recently, “While many of the genes we will initially be pursuing are responsible for rare disorders, what we learn from rare disorders often has profound consequences for our understanding of more common conditions.” But, why is that so? Why are rare conditions so instructive of more common ones?
To begin, rare diseases provide robust insight into complexity in biological systems. The specificity of the rare disease often permits a causative genetic factor to be isolated in a complex regulatory network, thus identifying and defining the network itself. Such insight is often the catalyst for dissecting the structural organization and/or inter-dependent signaling networks that are influenced by common genetic variations and that lead to some of the most common diseases of mankind. Nature does not use different genes, molecules, and pathways for common conditions than it does for rare ones. Rather, it is often the rare disease that actually reveals which gene, molecule or pathways nature hijacks in its common infirmities. The key to the rare disease is often the key to the common one. The key to the closet is often the key to the kingdom.
As examples, studies of familial hypercholesterolemia, Lesch-Nyhan disease, fibrodysplasia ossificans progressiva, congenital malignant osteopetrosis, and Hutchinson-Gilford progeria, all exceedingly rare conditions, have revealed the causative genes not only for each of these rare disorders, but have also illuminated the molecular pathways for common disorders of cholesterol metabolism, uric acid metabolism, heterotopic ossification, osteoporosis, and aging respectively – diseases that in some cases affect tens of thousands of people worldwide, and in other cases, millions.
The examples, iterations and lessons of rare maladies are profound and endless. In a dazzling article on “a new grammar for drug discovery,” (Nature 437: 491-493, 2005), Mark Fishman and Jeffrey Porter discuss the value of rare diseases not only for illuminating common conditions, but also for drug discovery. “Historically pharmaceutical companies have not focused on these diseases, in some cases because the affected protein is not tractable to pharmaceutical approaches, and in others, perhaps, because the number of people affected is small. But, the powerful role of a single gene in Mendelian disease can provide insight into complex diseases where the same gene accounts for part of the phenotype. Statin therapy, for example, was initially directed to patients with a genetic predisposition to excessive levels of blood cholesterol. But after the drugs efficacy and safety had been tested, the treatment was extended to a wider population of patients who had the same condition but due to many causes.” Once again, the key to the closet is the key to the kingdom.
In the last paragraph of his essay (The Lancet; May 26, 1928), Sir Archibald Garrod states, “We may feel sure that, in the future as in the past, there will be many who will try to solve the problems of the commoner diseases, the control of which is of vital interest to the community at large. Let us hope there will always be some who will seek to guess the riddles and to learn the lessons of rare maladies.” The implication, of course, is that in doing so, one may provide the clues to solve the more common conditions as well. How ironic and fortuitous that nature would construct such a universal key and place it not in the hands of the king, but in the hands of the custodian. The key to the closet is the key to the kingdom.
And, so we will end where we began with the letter from Dr. Harvey to Dr. Vlackveld, long before the era of gene identification or molecular discovery or recombinant technology. It was almost 350 years ago in London, when Dr. Harvey wrote those words that have not been improved upon since. “It is even so. Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature by the careful investigation of cases of rarer forms of disease.” The key to the closet is the key to the kingdom. It is even so.
Written by Frederick S. Kaplan, M.D.
