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The structure of part of a DNA double helix

Deoxyribonucleic acid ( /diːˌɒksɨˌraɪbɵ.n(j)uːˈkleɪ.ɪk ˈæsɪd/ (help·info)) (DNA) is a nucleic acid that

contains the genetic instructions used in the development and functioning of all known living organisms and some viruses. The main role of DNA molecules is the long-term storage of information. DNA is often compared to a set of blueprints, like a recipe or a code, since it contains the instructions needed to construct other components of cells, such as proteins and RNA molecules. The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in regulating the use of this genetic information.

Chemically, DNA consists of two long polymers of simple units called nucleotides, with backbones made of sugars and phosphate groups joined by ester bonds. These two strands run in opposite directions to each other and are therefore anti-parallel. Attached to each sugar is one of four types of molecules called bases. It is the sequence of these four bases along the backbone that encodes information. This information is read using the genetic code, which specifies the sequence of the amino acids within proteins. The code is read by copying stretches of DNA into the related nucleic acid RNA, in a process called transcription.

Within cells, DNA is organized into long structures called chromosomes. These chromosomes are duplicated before cells divide, in a process called DNA replication. Eukaryotic organisms (animals, plants, fungi, and protists) store most of their DNA inside the cell nucleus and some of their DNA in organelles, such as mitochondria or chloroplasts.  In contrast, prokaryotes (bacteria and archaea) store their DNA only in the cytoplasm. Within the chromosomes, chromatin proteins such as histones compact and organize DNA. These compact structures guide the interactions between DNA and other proteins, helping control which parts of the DNA are transcribed.

Genetics is the study of genes, and tries to explain what they are and how they work. Genes are how living organisms inherit features from their ancestors; for example, children usually look like their parents because they have inherited their parents’ genes. Genetics tries to identify which features are inherited, and explain how these features are passed from generation to generation.

In genetics, a feature of a living thing is called a “trait“. Some traits are part of an organism’s physical appearance; such as a person’s eye-color, height or weight. Other sorts of traits are not easily seen and include blood types or resistance to diseases. Some traits are inherited through our genes, so tall and thin people tend to have tall and thin children. Other traits come from interactions between our genes and the environment, so a child might inherit the tendency to be tall, but if they are poorly nourished, they will still be short. The way our genes and environment interact to produce a trait can be complicated. For example, the chances of somebody dying of cancer or heart disease seems to depend on both their genes and their lifestyle.

Genes are made from a long molecule called DNA, which is copied and inherited across generations. DNA is made of simple units that line up in a particular order within this large molecule. The order of these units carries genetic information, similar to how the order of letters on a page carry information. The language used by DNA is called the genetic code, which lets organisms read the information in the genes. This information is the instructions for constructing and operating a living organism.

The information within a particular gene is not always exactly the same between one organism and another, so different copies of a gene do not always give exactly the same instructions. Each unique form of a single gene is called an allele. As an example, one allele for the gene for hair color could instruct the body to produce a lot of pigment, producing black hair, while a different allele of the same gene might give garbled instructions that fail to produce any pigment, giving white hair. Mutations are random changes in genes, and can create new alleles. Mutations can also produce new traits, such as when mutations to an allele for black hair produce a new allele for white hair. This appearance of new traits is important in evolution.

Genes and inheritance

A section of DNA; the sequence of the plate-like units (nucleotides) in the center carries information.

Green eyes are a recessive trait.

Genes are inherited as units, with two parents dividing out copies of their genes to their offspring. You can think of this process like mixing two hands of cards, shuffling them, and then dealing them out again. Humans have two copies of each of their genes (i.e., two alleles) and when people reproduce they make copies of their genes and put them into eggs or sperm, but only put in one copy of each type of gene. When an egg joins with a sperm, this gives a child a complete set of genes. This child will have the same number of genes as its parents, but for any gene one of their two copies will come from their father, and one from their mother.

The effects of this mixing depends on the types (the alleles) of the gene you are interested in. If the father has two alleles for green eyes, and the mother has two alleles for brown eyes, all their children will get two alleles that give different instructions, one for green eyes and one for brown. The eye color of these children depends on how these alleles work together. If one allele overrides the instructions from another, it is called the dominant allele, and the allele that is overridden is called the recessive allele. In the case of a daughter with both green and brown alleles, brown is dominant and she ends up with brown eyes.[2]

Although the green color allele is still there in this brown-eyed girl, it doesn’t show. This is a difference between what you see on the surface (the traits of an organism, called its phenotype) and the genes within the organism (its genotype). In this example you can call the brown allele “B” and the green allele “g”. (It is normal to write dominant alleles with capital letters and recessive ones with lower-case letters.) The brown-eyed daughter has the “brown eye phenotype” but her genotype is Bg, with one copy of the B allele, and one of the g allele.

Now imagine that this woman grows up and has children with a brown-eyed man who also has a Bg genotype. Her eggs will be a mixture of two types, one sort containing the B allele, and one sort the g allele. Similarly, her partner will produce a mix of two types of sperm containing one or the other of these two alleles. Now, when the alleles are mixed up in their offspring, these children have a chance of getting either brown or green eyes, since they could get a genotype of BB = brown eyes, Bg = brown eyes or gg = green eyes. In this generation, there is therefore a chance of the recessive allele showing itself in the phenotype of the children – some of them may have green eyes like their grandfather.

Many traits are inherited in a more complicated way than the example above. This can happen when there are several genes involved, each contributing a small part to the end result. Tall people tend to have tall children because their children get a package of many alleles that each contribute a bit to how much they grow. However, there are not clear groups of “short people” and “tall people”, like there are groups of people with brown or green eyes. This is because of the large number of genes involved; this makes the trait very variable and people are of many different heights.Inheritance can also be complicated when the trait depends on the interaction between genetics and the environment. This is quite common, for example, if a child does not eat enough nutritious food this will not change traits like eye color, but it could stunt their growth.
Inherited diseases
Some diseases are hereditary and run in families; others, such as infectious diseases, are caused by the environment. Other diseases come from a combination of genes and the environment.  Genetic disorders are diseases that are caused by a single allele of a gene and are inherited in families. These include Huntington’s disease, Cystic fibrosis or Duchenne muscular dystrophy. Cystic fibrosis, for example, is caused by mutations in a single gene called CFTR and is inherited as a recessive trait.

Other diseases are influenced by genetics, but the genes a person gets from their parents only change their risk of getting a disease. Most of these diseases are inherited in a complex way, with either multiple genes involved, or coming from both genes and the environment. As an example, the risk of breast cancer is 50 times higher in the families most at risk, compared to the families least at risk. This variation is probably due to a large number of alleles, each changing the risk a little bit.  Several of the genes have been identified, such as BRCA1 and BRCA2, but not all of them. However, although some of the risk is genetic, the risk of this cancer is also increased by being overweight, drinking a lot of alcohol and not exercising.   A woman’s risk of breast cancer therefore comes from a large number of alleles interacting with her environment, so it is very hard to predict.

How genes work

Genes make proteins
The function of genes is to provide the information needed to make molecules called proteins in cells.  Cells are the smallest independent parts of organisms: the human body contains about 100 trillion cells, while very small organisms like bacteria are just one single cell. A cell is like a miniature and very complex factory that can make all the parts needed to produce a copy of itself, which happens when cells divide. There is a simple division of labor in cells – genes give instructions and proteins carry out these instructions, tasks like building a new copy of a cell, or repairing damage.  Each type of protein is a specialist that only does one job, so if a cell needs to do something new, it must make a new protein to do this job. Similarly, if a cell needs to do something faster or slower than before, it makes more or less of the protein responsible. Genes tell cells what to do by telling them which proteins to make and in what amounts.

Genes are expressed by being transcribed into RNA, and this RNA then translated into protein.

Proteins are made of a chain of 20 different types of amino acid molecules. This chain folds up into a compact shape, rather like an untidy ball of string. The shape of the protein is determined by the sequence of amino acids along its chain and it is this shape that, in turn, determines what the protein will do.  For example, some proteins have parts of their surface that perfectly match the shape of another molecule, allowing the protein to bind to this molecule very tightly. Other proteins are enzymes, which are like tiny machines that alter other molecules.

The information in DNA is held in the sequence of the repeating units along the DNA chain.  These units are four types of nucleotides (A,T,G and C) and the sequence of nucleotides stores information in an alphabet called the genetic code. When a gene is read by a cell the DNA sequence is copied into a very similar molecule called RNA (this process is called transcription). Transcription is controlled by other DNA sequences (such as promoters), which show a cell where genes are, and control how often they are copied. The RNA copy made from a gene is then fed through a structure called a ribosome, which translates the sequence of nucleotides in the RNA into the correct sequence of amino acids and joins these amino acids together to make a complete protein chain. The new protein then folds up into its active form. The process of moving information from the language of DNA into the language of amino acids is called translation.

DNA replication. DNA is unwound and nucleotides are matched to make two new strands.

If the sequence of the nucleotides in a gene changes, the sequence of the amino acids in the protein it produces may also change – if part of a gene is deleted, the protein produced will be shorter and may not work any more.  This is the reason why different alleles of a gene can have different effects in an organism. As an example, hair color depends on how much of a dark substance called melanin is put into the hair as it grows. If a person has a normal set of the genes involved in making melanin, they make all the proteins needed and they grow dark hair. However, if the alleles for a particular protein have different sequences and produce proteins that can’t do their jobs, no melanin will be produced and the hair will be white. This condition is called albinism and the person with this condition is called an albino.
Genes are copied
Genes are copied each time a cell divides into two new cells. The process that copies DNA is called DNA replication.  It is through a similar process that a child inherits genes from its parents, when a copy from the mother is mixed with a copy from the father.

DNA can be copied very easily and accurately because each piece of DNA can direct the creation of a new copy of its information. This is because DNA is made of two strands that pair together like the two sides of a zipper. The nucleotides are in the center, like the teeth in the zipper, and pair up to hold the two strands together. Importantly, the four different sorts of nucleotides are different shapes, so in order for the strands to close up properly, an A nucleotide must go opposite a T nucleotide, and a G opposite a C. This exact pairing is called base pairing.

When DNA is copied, the two strands of the old DNA are pulled apart by enzymes which move along each of the two single strands pairing up new nucleotide units and then zipping the strands closed. This produces two new pieces of DNA, each containing one strand from the old DNA and one newly made strand. This process isn’t perfect and sometimes the proteins will make mistakes and put the wrong nucleotide into the strand they are building. This causes a change in the sequence of that gene. These changes in DNA sequence are called mutations  Mutations produce new alleles of genes. Sometimes these changes stop the gene from working properly, like the melanin genes discussed above. In other cases these mutations can change what the gene does or even let it do its job a little better than before. These mutations and their effects on the traits of organisms are one of the causes of evolution.

Genes and evolution

Mice with different coat colors.

A population of organisms evolves when an inherited trait becomes more common or less common over time.  For instance, all the mice living on an island would be a single population of mice. If over a few generations, white mice went from being rare, to being a large part of this population, then the coat color of these mice would be evolving. In terms of genetics, this is called a change in allele frequency—such as an increase in the frequency of the allele for white fur.

Alleles become more or less common either just by chance (in a process called genetic drift), or through natural selection.  In natural selection, if an allele makes it more likely that an organism will survive and reproduce, then over time this allele will become more common. But if an allele is harmful, natural selection will make it less common. For example, if the island was getting colder each year and was covered with snow for much of the time, then the allele for white fur would become useful for the mice, since it would make them harder to see against the snow. Fewer of the white mice would be eaten by predators, so over time white mice would out-compete mice with dark fur. White fur alleles would become more common, and dark fur alleles would become more rare.

Mutations create new alleles. These alleles have new DNA sequences and can produce proteins with new properties. So if an island was populated entirely by black mice, mutations could happen creating alleles for white fur. The combination of mutations creating new alleles at random, and natural selection picking out those which are useful, causes adaptation. This is when organisms change in ways that help them to survive and reproduce.

Genetic engineering

Since traits come from the genes in a cell, putting a new piece of DNA into a cell can produce a new trait. This is how genetic engineering works. For example, crop plants can be given a gene from an Arctic fish, so they produce an antifreeze protein in their leaves.  This can help prevent frost damage. Other genes that can be put into crops include a natural insecticide from the bacteria Bacillus thuringiensis. The insecticide kills insects that eat the plants, but is harmless to people.  In these plants the new genes are put into the plant before it is grown, so the genes will be in every part of the plant, including its seeds. The plant’s offspring will then inherit the new genes, something which has led to concern about the spread of new traits into wild plants.

The kind of technology used in genetic engineering is also being developed to treat people with genetic disorders in an experimental medical technique called gene therapy. However, here the new gene is put in after the person has grown up and become ill, so any new gene will not be inherited by their children. Gene therapy works by trying to replace the allele that causes the disease with an allele that will work properly.

 “It’s tough to make predictions, especially about the future”
            – Yogi Berra

Princeton Longevity Center Medical News, July 27, 2010, by David Fein MD  —  We all want to find a crystal ball that can foretell our future, especially about our health. With the decoding of the human genome in 2003 expectations ran high that within a few years we would be able to pinpoint the genetic cause of many diseases. And it is true that medical research is increasingly finding associations between a wide range of disease and genetic mutations.
The complexity and cost of performing genetic testing has rapidly come down.  Many genetic tests are now widely available at a reasonable cost.  This has led to a number of companies offering genetic screening tests to the general public, often without the need for a physician prescription.

It’s an enticing idea to have a painless test that can potentially tell your health future.  But before you get a genetic test there are some pitfalls to keep in mind.

Genetic “screening tests” are now are offered “direct to the consumer” by a variety of companies such as 23andMe and Navigenics.  Genetic screening tests are not a complete sequencing of your DNA such as was done for the Human Genome Project.  That is still far too costly and time consuming.  Instead, these tests look for Single Nucleotide Polymorphisms (SNPs) which are pinpoint variations in a gene.  These genetic variants can alter how a gene functions. The tests typically involve analyzing hundreds of thousands of SNPs that are believed to be associated with the risk of certain diseases or changes in how you may metabolize specific medications.

23andMe, for example, currently provides information on 162 gene-trait associations, including genes for disease risk, drug response and whether you are a carrier of inheritable diseases such as Tay-Sachs or breast cancer. According to their website, they divide the significance of the associations into “established research” and “preliminary research”. Established research associations are those that have been confirmed in at least two large studies or “have gained widespread scientific acceptance in the scientific community.” Preliminary research associations are those that “still need to be confirmed by the scientific community” and “may not stand the rigors of scientific replication.”

That is an important distinction to keep in mind.  Many of those associations between an SNP and a particular disease may not be as clear-cut as we think. Data that “still need to be confirmed by the scientific community” could be a weak link for making major life decisions.

Even putting aside the concerns about the accuracy of the data interpretation, there is still the issue of what to do with your results.

Genetic testing can’t tell you with any certainty whether you will develop a disease or not.  Your genes load the gun but it is your environment that pulls the trigger.  Simply having a genetic predisposition to a disease, such as Type II Diabetes, does not mean you will actually become diabetic.  That gene will interact with your weight, diet, level of physical activity and many other factors.  Simply finding the presence of a genetic variant can’t tell us whether the gene ends up being expressed as a disease. 
Not having the gene doesn’t mean you are safe, either.  Even if you don’t have a gene for Type II Diabetes, it is likely that a rigorous effort at overeating and avoiding physical activity will get you there anyway.

You could argue that knowing you have the gene for Type II Diabetes might make you more careful about your lifestyle in hopes of avoiding the disease.  If you are successful in making those changes then perhaps the test is useful.
On the other hand, the test results could lead you to feel that since you are more likely to get Diabetes at some point anyway, there is no point in depriving yourself now.  In that case, the test results may actually increase your risk and become a self-fulfilling prophecy.

Using Type II Diabetes as an example has the advantage of there being the potential for you to do something that may change your outcome.  Many other conditions included in genetic screening tests have no known effective means of prevention or add little to the advice you would get anyway. 

There is likely to be very limited value in a test that tells you that the risk of Alzheimer’s Disease in the general population is 4% but your risk is 30%.  That information will probably cause you significant long-term anxiety even though it is still more likely that you will not get the disease.  And, the test does not tell you when it might strike.  Every little normal moment of distraction or forgetfulness is likely to taken as the first sign of the disease.  You may never develop Alzheimer’s Disease or it might not start until you are in your 80’s, but losing your car keys at 50 will have you shopping for a nursing home.  Knowing you are at higher risk could push you to make decisions about your life that turn out to be unwarranted.

It is important to make a distinction between a genetic test ordered by your physician to look for a evidence of a specific condition versus the genetic screening tests.  There is a growing list of very useful genetic tests for diagnostic and treatment decisions.  Physicians are increasingly shifting to looking at genetic markers to diagnose cancers, metabolic disease, clotting disorders and many other conditions.  Genetic tests can also help to guide decisions about the choice of medications that you are likely to respond to best and to determine the optimum dosage.

Genetic testing will become increasingly important in the coming years.  If properly used it can be a powerful tool.  At this point genetic screening tests appear unlikely to offer enough benefit to warrant widespread use without medical counseling as to the appropriate use and the meaning of the results.

Computer Model of the DNA Helix

Despite what you may have seen in some textbooks, DNA is not built like a twisted ladder. The helix, or spiral, is an inherent feature of the DNA molecule. Notice, for instance, that in the picture below, that the groove on the left side of the picture is much larger than the right side. This is because the paired bases in the center meet each other at an angle.

DNA is a very large molecule; the image here shows only a tiny fraction of the typical molecule. If an entire molecule of DNA from the virus “bacteriophage lambda” were shown at this scale, the image would be 970 meters high. For the bacterium Escherichia coli, the image would be 80 kilometers long. And for a typical piece of DNA from a eukaryote cell, the image would stretch for 1600 kilometers, about as far as it is from Dallas to Washington, D. C.! Obviously such a large molecule is not fully stretched out inside the cell, but is wound around proteins called histones which protect the DNA.

You might also notice in the image that the two halves do not quite come in contact. In fact they are held together by hydrogen bonds, a sort of electrical attraction between partially negative atoms on the base of one side with the partially positive atoms on the other. Both sides have positive and negative charges. A single such pairing would not hold the molecule together well, but several million such bonds are quite effective. This also has the advantage that little effort is required to pull the two halves apart for replication, when the DNA is copied, and for transcription, when the DNA message is read. The message of DNA is the information from which the cell and its components are built.


This model of DNA appears courtesy of the Image Library of Biological Macromolecules based in Jena, Germany, which maintains a large archive of spectacular computer graphics of DNA, RNA, and proteins. The background for this page was made by Jim Angus at the Los Angeles County Museum.

The Bergen Record, July 27, 2010, ny Barbara Williams  —  Michael Stanzione just wants to go home.

The Saddle Brook resident has been stuck in the hospital for three years, away from his wife, Debra, and 7-year-old son, Brian. He faces a lifetime in a pale yellow cubicle of a room at Bergen Regional Medical Center because insurance won’t pay for home health care

Stanzione, 52, is caught in an insurance quagmire — smack between inadequate coverage by Aetna and Medicare and ineligibility for standard Medicaid coverage.

“I’ve been trying to get home since May 2009,” he said. “But I’m not giving up. I have faith and that is keeping me going.”

Stanzione has Pompe disease, a rare and often fatal genetic illness that has left him on a ventilator.

His arms and legs are weakened by the disease and the muscles surrounding his lungs are so seriously compromised that they can’t expand his chest cavity enough so the lungs can take in air.

If he went home, he would need full-time nursing care to make sure the ventilator that helps him breathe is working properly — and to come to his aid if he starts choking.

But Stanzione isn’t bedridden and he believes he is capable of much more than languishing in a hospital room.

At the hospital, he walks short distances with a walker and sits for hours in a wheelchair working on his computer. He tosses a ball to his son when Brian and Debra visit on weekends. Stanzione says he is capable of doing light chores, such as making sandwiches and folding laundry in his Cape Cod house. He says he may even be able to work several hours a day as a computer programmer for his previous employer, Affiliated Computer Services.

Dr. Steven Jacoby, a pulmonologist who oversees Stanzione’s care from The Valley Hospital in Ridgewood, said he thinks Stanzione “would do fine at home.”

“It’s the stupidity of insurance that’s keeping him in the hospital,” Jacoby said.

Paying the price?

His care at Bergen Regional is paid for through Institutional Medicaid, but it does not cover services outside a facility. Standard Medicaid coverage does offer home services, but Stanzione’s disability income disqualifies him for that insurance. Meanwhile, Aetna, which covers the family through Debra’s employer, pays nothing for Stanzione’s hospitalization because the family is covered through Institutional Medicaid.

“Since Aetna isn’t paying anything right now, funding full-time home health care isn’t financially beneficial,” Jacoby said. “But overall for the system, it would be cheaper to have him home.”

If Stanzione went home, Aetna would pay for 60 four-hour visits a year, said Susan Millerick, an Aetna spokeswoman.

Part-time care could also be funded through Medicare, but exactly how many hours couldn’t be determined, said Jeffrey Hall, regional director for external communications for the Centers for Medicare and Medicaid Services. Karyn Ottman, Stanzione’s social worker at Bergen Regional, said she has never seen Medicare approve more than two to four hours on weekdays.

Even if the Aetna and the Medicare coverage were combined, it wouldn’t pay for enough hours for an aide.

Stanzione’s hope lies with a Medicaid waiver. He applied a few weeks ago but fears his $2,600 monthly disability payments, well over the $1,215 maximum allowed by Medicaid, would disqualify him.

“After that, we don’t have a Plan B,” Debra Stanzione said. “We’ve been told keeping him in the hospital is sort of like shopping in bulk — the more you have, the cheaper it is. But we’re not settling for that. We want him home.”

In the last three years, Stanzione has been home only once, for an hour last Christmas. He keeps pictures of the visit on his wall.

Michael Stanzione just wants to go home.

The Saddle Brook resident has been stuck in the hospital for three years, away from his wife, Debra, and 7-year-old son, Brian. He faces a lifetime in a pale yellow cubicle of a room at Bergen Regional Medical Center because insurance won’t pay for home health care.

Stanzione, 52, is caught in an insurance quagmire — smack between inadequate coverage by Aetna and Medicare and ineligibility for standard Medicaid coverage.

“I’ve been trying to get home since May 2009,” he said. “But I’m not giving up. I have faith and that is keeping me going.”

Stanzione has Pompe disease, a rare and often fatal genetic illness that has left him on a ventilator.

His arms and legs are weakened by the disease and the muscles surrounding his lungs are so seriously compromised that they can’t expand his chest cavity enough so the lungs can take in air.

If he went home, he would need full-time nursing care to make sure the ventilator that helps him breathe is working properly — and to come to his aid if he starts choking.

But Stanzione isn’t bedridden and he believes he is capable of much more than languishing in a hospital room.

At the hospital, he walks short distances with a walker and sits for hours in a wheelchair working on his computer. He tosses a ball to his son when Brian and Debra visit on weekends. Stanzione says he is capable of doing light chores, such as making sandwiches and folding laundry in his Cape Cod house. He says he may even be able to work several hours a day as a computer programmer for his previous employer, Affiliated Computer Services.

Dr. Steven Jacoby, a pulmonologist who oversees Stanzione’s care from The Valley Hospital in Ridgewood, said he thinks Stanzione “would do fine at home.”

“It’s the stupidity of insurance that’s keeping him in the hospital,” Jacoby said.

Paying the price?

His care at Bergen Regional is paid for through Institutional Medicaid, but it does not cover services outside a facility. Standard Medicaid coverage does offer home services, but Stanzione’s disability income disqualifies him for that insurance. Meanwhile, Aetna, which covers the family through Debra’s employer, pays nothing for Stanzione’s hospitalization because the family is covered through Institutional Medicaid.

“Since Aetna isn’t paying anything right now, funding full-time home health care isn’t financially beneficial,” Jacoby said. “But overall for the system, it would be cheaper to have him home.”

If Stanzione went home, Aetna would pay for 60 four-hour visits a year, said Susan Millerick, an Aetna spokeswoman.

Part-time care could also be funded through Medicare, but exactly how many hours couldn’t be determined, said Jeffrey Hall, regional director for external communications for the Centers for Medicare and Medicaid Services. Karyn Ottman, Stanzione’s social worker at Bergen Regional, said she has never seen Medicare approve more than two to four hours on weekdays.

Even if the Aetna and the Medicare coverage were combined, it wouldn’t pay for enough hours for an aide.

Stanzione’s hope lies with a Medicaid waiver. He applied a few weeks ago but fears his $2,600 monthly disability payments, well over the $1,215 maximum allowed by Medicaid, would disqualify him.

“After that, we don’t have a Plan B,” Debra Stanzione said. “We’ve been told keeping him in the hospital is sort of like shopping in bulk — the more you have, the cheaper it is. But we’re not settling for that. We want him home.”

In the last three years, Stanzione has been home only once, for an hour last Christmas. He keeps pictures of the visit on his wall.

“It was really nice,” Stanzione said, a smile skipping across his face. “It felt good to be home and the emergency workers who brought me there did it on their own time.”

Having her husband away so long “is a missing link in our family,” Debra Stanzione said.

“I really want him home, but my heart aches for our son,” she said. “He did everything with Mike; he’s such a daddy’s boy. Mike hasn’t been home since Brian was 4.”

While the family struggles to reside under the same roof, friends are joining together to offer support. They have planned a golf event — information is available at golf4mike.com — for Aug 6 to raise money for his home care. They hope to make it an annual event.

“It’s very humbling to have so much stuff done for you,” Stanzione said. “I don’t even know how to begin to thank everyone.”

Meanwhile, he continues his nightly ritual of talking to his family via a webcam, e-mailing friends and watching baseball.

“That’s another reason I have to get home — my wife may be influencing my son,” Stanzione joked. “She likes the Mets and country music and I’m a San Francisco Giants and Beatles fan.”

He worries that his son will lose all memory of him living at home.

“I don’t want him to only remember me being in a hospital,” Stanzione said. “But it’s been so long since I’ve been home, I don’t know if all those memories are gone.”

Disease far from common

Fewer than 10,000 Americans have Pompe disease. They lack an enzyme that breaks down glycogen, a stored form of sugar. This abundance of glycogen accumulates throughout the body, but concentrates in and causes deterioration of the heart and skeletal muscles.

Every two weeks, Stanzione goes to Valley for enzyme replacement therapy, an intravenous drip with a drug called lumizyme that prompts cells to process the poisonous buildup and allows muscles to regain strength. The development of its older sister drug, myozyme, was the focus of the movie, “Extraordinary Measures,” starring Harrison Ford. The film was adapted from former Englewood resident John Crowley’s book, “Chasing Miracles,” which chronicled his efforts to make the drug available to two of his children afflicted with Pompe.

Stanzione was 35 when he first noticed symptoms — some leg pains and a sore back. A weekend baseball player, he thought he just had a bad back and didn’t seek treatment until he was 40. By then his gait was off, and he had difficulty navigating stairs. In 1998, his New Year’s resolution was to find out what was wrong.

A slew of doctor visits and tests left him misdiagnosed for almost a decade with polymyositis, a painful autoimmune inflammation of muscle tissue. His pain and weakness continued to worsen until March 2007, when he landed in Valley’s emergency room barely able to breathe, walk or swallow. His weakened muscles prevented his lungs from expelling carbon dioxide fast enough and doctors said that without care he would have been in a coma or dead within 24 hours.

Doctors at Valley correctly diagnosed his condition as Pompe, but he contracted infections that further weakened him and he needed a gastric tube inserted because he couldn’t swallow.

For two years, he was unable to eat or drink. He didn’t walk for eight months. In addition to the ventilator, he has a tracheotomy and an inflatable cuff around his throat that allows him to breathe and speak. He’s made the rounds of area hospitals, including Meadowlands Hospital in Secaucus and the University of Medicine and Dentistry in Newark, for treatments.

But Stanzione has slowly rallied, surprising even his doctors. Although he still has the gastric tube for liquids, his throat muscles have strengthened enough for him to eat chicken and pasta.

One day soon, he hopes to be sipping coffee while his son gets ready for school.

“I miss coffee,” he said. “But I really miss my wife and son. I want to watch him leave for school, help him with his homework and kiss him goodnight every night.”

E-mail: williamsb@northjersey.com

“It was really nice,” Stanzione said, a smile skipping across his face. “It felt good to be home and the emergency workers who brought me there did it on their own time.”

Having her husband away so long “is a missing link in our family,” Debra Stanzione said.

“I really want him home, but my heart aches for our son,” she said. “He did everything with Mike; he’s such a daddy’s boy. Mike hasn’t been home since Brian was 4.”

While the family struggles to reside under the same roof, friends are joining together to offer support. They have planned a golf event — information is available at golf4mike.com — for Aug 6 to raise money for his home care. They hope to make it an annual event.

“It’s very humbling to have so much stuff done for you,” Stanzione said. “I don’t even know how to begin to thank everyone.”

Meanwhile, he continues his nightly ritual of talking to his family via a webcam, e-mailing friends and watching baseball.

“That’s another reason I have to get home — my wife may be influencing my son,” Stanzione joked. “She likes the Mets and country music and I’m a San Francisco Giants and Beatles fan.”

He worries that his son will lose all memory of him living at home.

“I don’t want him to only remember me being in a hospital,” Stanzione said. “But it’s been so long since I’ve been home, I don’t know if all those memories are gone.”

Disease far from common

Fewer than 10,000 Americans have Pompe disease. They lack an enzyme that breaks down glycogen, a stored form of sugar. This abundance of glycogen accumulates throughout the body, but concentrates in and causes deterioration of the heart and skeletal muscles.

Every two weeks, Stanzione goes to Valley for enzyme replacement therapy, an intravenous drip with a drug called lumizyme that prompts cells to process the poisonous buildup and allows muscles to regain strength. The development of its older sister drug, myozyme, was the focus of the movie, “Extraordinary Measures,” starring Harrison Ford. The film was adapted from former Englewood resident John Crowley’s book, “Chasing Miracles,” which chronicled his efforts to make the drug available to two of his children afflicted with Pompe.

Stanzione was 35 when he first noticed symptoms — some leg pains and a sore back. A weekend baseball player, he thought he just had a bad back and didn’t seek treatment until he was 40. By then his gait was off, and he had difficulty navigating stairs. In 1998, his New Year’s resolution was to find out what was wrong.

A slew of doctor visits and tests left him misdiagnosed for almost a decade with polymyositis, a painful autoimmune inflammation of muscle tissue. His pain and weakness continued to worsen until March 2007, when he landed in Valley’s emergency room barely able to breathe, walk or swallow. His weakened muscles prevented his lungs from expelling carbon dioxide fast enough and doctors said that without care he would have been in a coma or dead within 24 hours.

Doctors at Valley correctly diagnosed his condition as Pompe, but he contracted infections that further weakened him and he needed a gastric tube inserted because he couldn’t swallow.

For two years, he was unable to eat or drink. He didn’t walk for eight months. In addition to the ventilator, he has a tracheotomy and an inflatable cuff around his throat that allows him to breathe and speak. He’s made the rounds of area hospitals, including Meadowlands Hospital in Secaucus and the University of Medicine and Dentistry in Newark, for treatments.

But Stanzione has slowly rallied, surprising even his doctors. Although he still has the gastric tube for liquids, his throat muscles have strengthened enough for him to eat chicken and pasta.

One day soon, he hopes to be sipping coffee while his son gets ready for school.

“I miss coffee,” he said. “But I really miss my wife and son. I want to watch him leave for school, help him with his homework and kiss him goodnight every night.”