February 7, 2017

Cystic fibrosis (CF) is a chronic, progressive, and frequently fatal genetic (inherited) disease of the body’s mucus glands. “Inherited” means the disease is passed from parents to children through genes. People who have CF inherit two faulty genes for the disease—one from each parent. The parents likely don’t have the disease themselves. CF mainly affects the lungs, pancreas, liver, intestines, sinuses, and sex organs.

Cystic fibrosis causes various effects on the body, but mainly affects the digestive system and lungs. The degree of cystic fibrosis involvement differs from person to person. However, the persistence and ongoing infection in the lungs, with destruction of lungs and loss of lung function, eventually causes death in the majority of people who have cystic fibrosis.

Cystic fibrosis affects at least 30,000 people in the United States; between 900 and 1,000 new cases are diagnosed every year. One in 29 people of Caucasian ancestry is an unaffected carrier of the CF gene mutation. In the United States, cystic fibrosis occurs at a rate of 1 in 3,400 births. While it occurs in persons of all racial and ethnic backgrounds, it is most common in Caucasians of Northern European ancestry. Historically, half of affected individuals were diagnosed by five months of age, though the average age at diagnosis was five years, and some individuals were not diagnosed until adulthood. CF worsens with age. If you have CF, you usually experience a small decline in lung function each year.

Affects of CF

Cystic fibrosis can affect the whole body. Cystic fibrosis affects a specific protein called cystic fibrosis trans-membrane regulator (CFTR) that controls the normal movement of sodium (Na), chloride (Cl), as well as water in and out of the cells in different parts of the body. People with CF either have too little or abnormal CFTR. When CFTR is absent or defective, the mucus normally secreted by the cells in the pulmonary airways (breathing tubes), pancreatic ducts, gastrointestinal tract, and reproductive system becomes thickened. This thickened mucus causes blockages (obstructions), frequent infection, and loss of function in the affected organs.

In the lungs, absence of CFTR leads to thick mucus that obstructs the airways. When mucus is not cleared, it creates an environment for bacteria to grow and infect the airways. This leads to a vicious cycle with more mucus, more airway blockage and more infections. Over the course of many years, this damages the airways and eventually the lung tissue.

CF also affects other organs and systems in the body. For example:

  • In the pancreas, ducts become blocked, causing fibrosis (scarring) of the pancreas. This leads to reduced absorption of fat and vitamins. And it can also cause a type of diabetes referred to as “cystic fibrosis-related diabetes.”
  • In the digestive tract, intestinal secretions can be much thicker than normal. This causes blockages in the intestines and sometimes requires surgery.
  • In the liver, ducts can be blocked causing damage to the liver cells and cirrhosis.
  • In the reproductive tract, increased mucus can cause decreased fertility or infertility in both men and women.


Genetic Factor – CF gene mutations are divided into classes based on how damaged the CFTR protein function is. Classes I, II, and III are generally more severe causing “classic CF.” Classes IV and V are usually milder. Also, other genes called modifier genes can affect a person’s symptoms and outcome.

Cystic fibrosis is a genetic disease that occurs when a child inherits two abnormal genes, one from each parent. Approximately, one in 25 Americans carry an abnormal version of the gene responsible for cystic fibrosis. Carriers do not have cystic fibrosis, nor do they exhibit any of the symptoms of the disease.

In case where two parents who are carriers have a child, there is a 25 percent chance that the child will be born with cystic fibrosis; there is also a 50 percent chance that the child will be a carrier; and a 25 percent chance that the child will neither be a carrier nor have cystic fibrosis.

Environmental Factors – Environmental exposures worsen CF lung disease. Children who are exposed to tobacco smoke have lower lung function and more pulmonary exacerbations than those who live in smoke-free environments. High levels of air pollution are associated with an increased rate of adverse pulmonary events.

Lifestyle Factors – People with CF need to consume a very large number of calories to maintain weight and grow, which can be difficult to achieve. Physical activity is also important to help keep lungs healthy.


The type and severity of CF symptoms varies from person to person. In some people not identified with CF through newborn screening, there may be health problems that indicate the presence of CF, such as –

  • Salty-tasting skin
  • Slow weight gain, failure to thrive, even with good appetite
  • Wheezing, coughing, pneumonia
  • Abnormal bowel movements

Lungs – Almost everyone with Cystic Fibrosis will sooner or later develop lung disease. However, when it occurs and how bad it is differs from person to person. The thickened mucus builds up in the bronchioles and reduces airflow, making the patient short of breath and wheeze with exercise. This mucus can build up to such an extent that it plugs the smaller airways of the lungs and can then harbor bacteria which cause infection.

Digestive Symptoms – Cystic Fibrosis mainly affects the digestive system by mucus blocking the pancreas, stopping the digestive enzymes produced from making their way to the gut to digest food. This complication can cause malnutrition and malabsorption even though the patient has good appetite. Symptoms of malabsorption include poor weight gain, frequent foul-smelling stools, stomach ache, and excessive gas. Enzyme supplements, supplementary feeding, and vitamin replacement all assist with compensating for decreased activity of the pancreas.


  • Cystic Fibrosis has no effect on brain or sensory function, or mental acuity.
  • A small percentage of the CF population may be affected by mucus blockage in the small ducts within the liver, reducing liver function.
  • Adults with CF are also prone to osteoporosis (thin, brittle bones) due to nutritional problems and the adverse effects of steroid medications.
  • In most men with CF, the tubes that carry the sperm are blocked or have never developed (Absence of the Vas Deferens), this can cause fertility problems, but does not cause sexual impotency.
  • Women with CF may have irregular menstrual cycles related to nutritional issues, but they do produce healthy fertile eggs, so effective contraception is necessary.


Physiotherapy and exercise – Regular chest physiotherapy is very important. This helps to clear the airways of the thick mucus. A physiotherapist usually shows parents how to do this for their children. It involves a special way to firmly pat the chest whilst the child lies head-down to encourage mucus and sputum to be coughed out.

Medications – In CF, the doctor may prescribe antibiotics, anti-inflammatory medicines, bronchodilators, or medicines to help clear the mucus. These medicines help treat or prevent lung infections, reduce swelling and open up the airways, and thin mucus. In case of mutations in a gene called G551D, which occurs in about 5 percent of people who have CF, the doctor may prescribe the oral medicine ivacaftor (approved for people with CF who are 6 years of age and older).

Antibiotics are frequently needed to treat bacteria that grow in the mucus. These can be given in one of three ways –

  • Orally or by mouth – this is the easiest and cheapest route.
  • By inhalation – this is more expensive but very effective.
  • Intravenously (IV) – this is usually reserved for those who are sicker.

Antiinflammatory medications have also been found to be helpful in CF. Two medications are currently in use, ibuprofen and azithromycin (an antibiotic that’s used as an antiinflammatory agent in CF).

Pulmonary Rehabilitation – R doesn’t replace medical therapy. Instead, it’s used with medical therapy and may include –

  • Exercise training
  • Nutritional counseling
  • Education on your lung disease or condition and how to manage it
  • Energy-conserving techniques
  • Breathing strategies
  • Psychological counseling and/or group support

Alternative Treatment

Omega-3 fatty acids, such as fish oil, 1 to 2 capsules or 1 tablespoonful of oil twice daily, to reduce inflammation and improve immunity. Fish oils may increase bleeding in sensitive individuals, such as those taking blood-thinning medications (including aspirin).

A multivitamin daily, containing the antioxidant vitamins A, C, D, E, K, the B-vitamins and trace minerals, such as magnesium, calcium, zinc, and selenium.

Digestive enzymes

Coenzyme Q10, 100 for antioxidant and immune activity.

N-acetyl cysteine (NAC) for antioxidant effects. Alternative health care practitioners may use higher dosages.

Probiotic supplement for maintenance of gastrointestinal and immune health.

Methylsulfonylmethane (MSM) to help reduce inflammation.

Whey protein helps to support of immunity and weight gain, when needed. Whey protein can interact with some medications, particularly Levodopa.

Green tea (Camellia sinensis) standardized extract, helps in antioxidant and immune effects. You may also prepare teas from the leaf of this herb.

Cat’s claw (Uncaria tomentosa) standardized extracthelps in inflammation, immune and antibacterial or antifungal activity. Cat’s claw may interact with certain medications, including blood pressure medications.

Milk thistle (Silybum marianum) seed helps in detoxification support. Milk thistle may have an estrogen-like effect, so people who have a history of hormone-related cancers should use milk thistle with caution. Milk thistle is in the same family as ragweed and may cause allergic reactions in people who are sensitive to ragweed.

Bromelain (Ananus comosus) helps in pain and inflammation. Bromelain may increase bleeding in sensitive individuals, such as those taking blood-thinning medications, including aspirin.

Ground Ivy (Hedera helix) standardized helps to reduce mucous production and to loosen phlegm. Ground ivy can be particularly toxic to the liver and kidneys.


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February 7, 2017

Cryoglobulins are proteins found in the blood that precipitate (clump together) in the cold and cause inflammation and organ damage. However, these proteins can occasionally be present in low levels in the blood without any symptoms. When there are symptoms due to the cryoglobulins, the disease is called “cryoglobulinemia.”

Immunoglobulins are the class of proteins that make antibodies in response to foreign substances – antigens introduced into the body. In the case of cryoglobulinaemia, the abnormal immunoglobulins form complexes – cryoglobulins and precipitate (leach) out of the blood at cold temperatures. This causes restricted tissue blood flow and systemic inflammation, which leads to many clinical signs and symptoms including skin lesions, arthralgia (joint pain), arthritis, vascular purpura (purple skin marks), livedo (marbling pattern), and bleeding conditions.

Types of Cryoglobulinemia

Cryoglobulinemia may be classified based on cryoglobulin composition with the Brouet classification, which is as follows –

Cryoglobulinemia is basically classified into three types, Type-I, Type-II, and Type-III.

  • Type I Cryoglobulinemia – This is caused by monoclonal immunoglobulin. This type is usually related to cancerous conditions of the blood or the immune systems.
  • Types II Cryoglobulinemia – This is caused by IgM, IgG and IgA monoclonal immunoglobulin. These types of Cryoglobulinemia are most commonly found in people who have chronic inflammatory conditions like hepatitis C.
  • Types III Cryoglobulinemia – This disease is caused by IgM and IgG polyclonal immunoglobulin.

Cryoglobulinaemia is thought to be rare. Essential mixed cryoglobulinaemia occurs in about 1 in 100,000 people. Most cases of cryoglobulinaemia have an underlying cause. The type of cryoglobulinaemia found in patients is roughly 25% with type I, 25% with type II and 50% with type III.

Each type is associated with different diseases and disorders, which may include cancer involving white blood cells, infections, autoimmune disorders, rheumatic diseases, vasculitis, kidney disease, hepatitis C virus infection, and peripheral neuropathy. More than 90% of people with cryoglobulinemia also have a hepatitis C infection. Hepatitis C virus infection is primarily acquired by needle sharing and tainted blood products, and only rarely transmitted sexually. Treatment of the underlying hepatitis C virus infection may be an effective therapy for an associated peripheral neuropathy


  • Hyper-Viscosity– Cryoglobulins circulates in blood and become thick and precipitate at low body temperature. The cause of change in physical characteristics at low temperature is not known.
  • Antibodies– Cryoglobulins are proteins that function as antibodies. Cryoglobulin increases in autoimmune disease.
  • Infection- Cryoglobulin is found in higher concentration in hepatitis C infection.
  • Blood Cancers– Cryoglobulin is abnormally increased in patient suffering with lymphoma and multiple myeloma
  • Connective Tissue Disease– Concentration of Cryoglobulin is at higher level in patients suffering with connective tissue disorder like lupus.

Risk Factors

Infections associated with cryoglobulinemia include the following:

  • Viral – Hepatitis A, B, and C (see Differentials); HIV; Epstein-Barr virus (EBV); cytomegalovirus (CMV); adenovirus; chikungunya
  • Bacterial – Endocarditis, streptococcal infections, syphilis, Lyme disease, leprosy, Q fever, brucellosis
  • Fungal – Coccidioidomycosis
  • Parasitic – Malaria, toxoplasmosis, others


Most people with cryoglobulins have no symptoms other than elevated levels on lab tests. When symptoms are present, they are most commonly fatigue, joint pain, numbness or weakness, and a rash that looks like red spots or purple bruises, usually over the lower legs.

Other symptoms and signs may include –

  • Change of the color of hands and/or feet (from normal to white to a purplish-blue color) with cold, called “Raynaud’s Phenomenon”
  • Weight loss
  • High blood pressure
  • Swelling of ankles and legs
  • Skin ulcers and gangrene
  • Enlarged liver or spleen
  • Numbness, tingling or weakness
  • Kidney damage

Specific Symptoms of Cryoglobulinemia –

  • Skin- Purple bruises, rash and skin ulcer
  • Skeletal System- Joint pain, muscle ache, ankle swelling (edema feet) and Raynaud’s phenomenon
  • Nervous System- Peripheral neuropathy, numbness and weakness
  • Respiratory System- Dyspnea or short of breath
  • Kidney- Glomerulonephritis causes hematuria, proteinuria and kidney failure
  • Cardiovascular System- Hypertension
  • Gastrointestinal System- Enlarged liver and spleen


Complications include –

  • Bleeding in the digestive tract (rare)
  • Heart disease (rare)
  • Infections of ulcers
  • Kidney failure
  • Liver failure
  • Skin death
  • Death
  • Ischemic Changes– Serum Cryoglobulin causes thick precipitation of serum at low temperatures. Increased blood viscosity eventually start slowing the blood flow or blocks the smaller vessels. The reduced blood supply to tissue and organs causes ischemia (lack of blood supply) and numerous complications including renal failure.
  • Tissue and Organ Damage– Cryoglobulinemia is a disease, which damages the tissue secondary to ischemia. Blocking of blood supply to normal tissue and organ causes ischemia.


Medications –

  • Rituximab is an effective drug and has fewer risks than other medicines.
  • Cyclophosphamide is used in life-threatening conditions where rituximab is not working or available. This medicine was used often in the past.
  • A treatment called plasmaphereis is also used. In this his procedure, blood plasma is taken out of blood circulation and abnormal cryoglobulin antibody proteins are removed. The plasma is replaced by fluid, protein, or donated plasma.
  • Nonsteroidal anti-inflammatory drugs (NSAIDs) may be used in patients with arthralgia and fatigue.

Alternative Treatment

February 7, 2017

Craniosynostosis is a birth defect in which the bones in a baby’s skull join together too early. This happens before the baby’s brain is fully formed. It is a congenital deformity of the infant skull that occurs when the fibrous joints between the bones of the skull (called cranial sutures) close prematurely.

In an infant, the skull is not a solid piece of bone, but it is several boney plates separated by fibrous flexible material called sutures. These sutures allow the skull to expand as the brain grows, and will eventually fuse to form a solid skull. Around two years of age, a child’s skull bones begin to join together because the sutures become bone. When this occurs, the suture is said to “close.” In a baby with craniosynostosis, one or more of the sutures closes too early. This can limit or slow the growth of the baby’s brain. The remaining open sutures have to grow faster to make up for the closed suture. This extra growth causes a change in head shape. In some cases, the remaining open sutures can’t grow fast enough to keep up with the brain’s growth causing an abnormally high pressure in the skull, which can have negative effects on brain health. These include learning delays, blindness, and, rarely, death, if untreated. Craniosynostosis can either be –

  • Syndromic – the condition is one of a number of birth defects to affect a child
  • Nonsyndromic – the condition develops in isolation and the child has no other birth defects

Types of Craniosynotosis

There are several types of craniosynostosis. They have a typical appearance depending on which suture, or sutures, are involved, and are named both according to the head shape (words that end in –cephaly), and by which suture is abnormally fused.

  • Sagittal synostosis– The sagittal suture runs along the top of the head, from the baby’s soft spot near the front of the head to the back of the head. When this suture closes too early, the baby’s head will grow long and narrow (scaphocephaly). It is the most common type of craniosynostosis.
  • Coronal synostosis – The right and left coronal sutures run from each ear to the sagittal suture at the top of the head. When one of these sutures closes too early, the baby may have a flattened forehead on the side of the skull that closed early (anterior plagiocephaly). The baby’s eye socket on that side might also be raised up and his or her nose could be pulled toward that side. This is the second most common type of craniosynostosis.
    • Bicoronal synostosis – This type of craniosynostosis occurs when the coronal sutures on both sides of the baby’s head close too early. In this case, the baby’s head will grow broad and short (brachycephaly).
  • Lambdoid synostosis – The lambdoid suture runs along the backside of the head. If this suture closes too early, the baby’s head may be flattened on the back side (posterior plagiocephaly). This is one of the rarest types of craniosynostosis.
  • Metopic synostosis – The metopic suture runs from the baby’s nose to the sagittal suture at the top of the head. If this suture closes too early, the top of the baby’s head shape may look triangular, meaning narrow in the front and broad in the back (trigonocephaly). This is one of the rarest types of craniosynostosis.

Craniosynostosis is a rare condition. It is estimated that one in every 1,800 to 3,000 children is born with the condition. Three out of every four cases affect boys. Nonsyndromic craniosynostosis is the most common form of the condition, accounting for 80%-95% of all cases. The cause of nonsyndromic craniosynostosis is unknown. There are more than 150 different syndromes that can cause syndromic craniosynostosis, all of which are very rare. A syndrome describes a range of different symptoms that are all related to a common cause, which is usually (but not always) genetic.


The causes of craniosynostosis in most infants are unknown. Some babies have a craniosynostosis because of changes in their genes. In some cases, craniosynostosis occurs because of an abnormality in a single gene, which can cause a genetic syndrome. However, in most cases, craniosynostosis is thought to be caused by a combination of genes and other factors, such as things the mother comes in contact with in her environment, or what the mother eats or drinks, or certain medications she uses during pregnancy.

Craniosynostosis is a feature of many different genetic syndromes that have a variety of inheritance patterns and chances for reoccurrence, depending on the specific syndrome present. It is important for the child as well as family members to be examined carefully for signs of a syndromic cause (inherited genetic disorder) of craniosynostosis such as limb defects, ear abnormalities, or cardiovascular malformations.

Risk Factors

Maternal thyroid disease ― Women with thyroid disease or who are treated for thyroid disease while they are pregnant have a higher chance of having an infant with craniosynostosis, compared to women who don’t have thyroid disease.

Certain medications ― Women who report using clomiphene citrate (a fertility medication) just before or early in pregnancy are more likely to have a baby with craniosynostosis, compared to women who didn’t take this medicine.

Smoking – Studies have found that maternal smoking is associated with an increased risk of infant craniosynostosis. One study found this association only for heavy smokers who continued smoking after the first trimester and had delayed or no folic acid supplement use.

Drugs and Medication – Studies of maternal alcohol consumption have had mixed results. One study found no relationship between maternal alcohol consumption and craniosynostosis risk. There may be a connection between nitrosatable drugs (chlordiazepoxide, nitrofurantoin, and chlorpheniramine) and increased risk of craniosynostosis.

Maternal Health – Mothers who are overweight may be at an increased risk for delivering a child with isolated craniosynostosis, but another study failed to confirm this finding. Although maternal pre-gestational diabetes mellitus has not been found to be a risk factor for craniosynostosis, gestational diabetes mellitus may confer an increased risk for having a child with craniosynostosis and multiple additional defects. Maternal thyroid disease has been reported as a risk factor for craniosynostosis.

Fertility Treatments – Some evidence exists for a link between specific fertility treatments and greater risk of craniosynostosis. Clomiphene citrate, a drug used for ovulation stimulation, was associated with an increased craniosynostosis risk.

Vitamins and dietary nutrients have been studied for their associations with craniosynostosis risk. In one study, higher maternal intake of riboflavin, vitamin B6, vitamin E, and vitamin C before and during pregnancy was associated with a decreased risk for sagittal synostosis, and higher intake of methionine and vitamin C was associated with a decreased risk for coronal synostosis.

Parental Occupation – Occupation of the father in the agriculture and forestry or mechanics and repairman fields has been suggested as a risk factor for craniosynostosis.

Infant Sex – Most studies have reported higher craniosynostosis rates or ratios among male infants, particularly for sagittal and metopic synostosis. Coronal craniosynostosis seems to be more common in female infants.

Parental Age – Craniosynostosis risk appears to increase with increasing maternal age; however, some studies did not find a significant relationship between maternal age and craniosynostosis risk. The relationship between father’s age and craniosynostosis risk is less clear. One study identified older age of the father as a risk factor.

Signs & Symptoms

In infants with this condition, the most common signs are changes in the shape of the head and face. The appearance of the child’s face may not be the same when compared to the other side. Signs and symptoms of Craniosynostosis include the following –

  • Sagittal synostosis – This is when the head grows long but its width is restricted due to the sagittal suture (top of the head) fusing too early. It is the most widespread type of craniosynostosis and mostly occurs in boys.
  • Coronal craniosynostosis – This is due to early fusion of one or both of the sutures connecting the top of the head to the ears (coronal sutures). It results in the baby having a flat forehead and possibly a higher eye socket on the affected side. If both sutures fuse, both sides of the face are affected, this is known as Biconal synostosis. This kind of craniosynostosis occurs mostly in girls and is the second most common of the types.
  • Metopic synostosis – This is a much rarer form of craniosynostosis. This time the suture that fuses is located between the sagittal suture and the nose. Babies with this form develop a triangular scalp.
  • Lambdoid synostosis – This is when the suture that runs across the back of the head (lamdoid suture) fuses causing flatness in this area. Of all forms of craniosynostosis, this is the most rare.

General Symptoms include –

  • A full or bulging fontanelle (soft spot located on the top of the head)
  • Sleepiness (or less alert than usual)
  • Scalp veins may be very noticeable
  • Increased irritability
  • High-pitched cry
  • Poor feeding
  • Projectile vomiting
  • Increasing head circumference
  • Seizures
  • Bulging eyes and an inability of the child to look upward with the head facing forward
  • Developmental delays


The primary treatment method of craniosynostosis is surgery, which is best done within the first year of the child’s life. The main goal of the surgery is to let the cranial vault develop normally. If surgery is not performed the condition can get worse and the skull deformity increase. There are two common types of surgery for craniosynostosis –

  • Traditional surgery, also called calvarial vault remodeling – Among the surgical options available, the more traditional surgery we offer is when the baby is older. During surgery, an incision is made in the infant’s scalp. The shape of the head is corrected by moving the area that is abnormally fused or prematurely fused and then reshaping the skull so it can take more of a round contour. Surgery can last up to eight hours. The baby will likely spend one night in the ICU plus an additional 3-5 days in the hospital for monitoring.
  • Minimally invasive endoscopic surger – This minimally invasive surgery is one that we perform when the baby is much younger (less than 3 months old).This type of surgery is followed by the use of a molding helmet. After the surgery is performed, we then prescribe the molding helmet. You can expect to follow up with your neurosurgeon every 3 months for the first year post-surgery to check progress of the helmet reshaping the skull.

Risks for any surgery are –

  • Breathing problems
  • Infection, including in the lungs and urinary tract
  • Blood loss (children having an open repair may need a transfusion)
  • Reactions to medicines

Possible risks of having this surgery are –

  • Infection in the brain
  • Bones connect together again, and more surgery is needed
  • Brain swelling
  • Damage to brain tissue


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February 7, 2017

Chronic granulomatous disease (CGD) is an inherited disorder in which white blood cells lose their ability to destroy certain bacteria and fungi. It is described as a primary immunodeficiency disorder. “Primary” means it is not caused by some other disease or disorder.

CGD is a genetic disease in which the body’s cells that eat certain invaders, also called phagocytes, do not make hydrogen peroxide and other chemicals needed to kill certain bacteria and molds. As a result of this defect, patients with CGD get more infections, and they also get too many immune cells forming “knots” called granulomas, hence the name of the disease. Another problem in CGD is that patients can get excessive inflammation even when there is not an infection, and that inflammation can cause diarrhea, and bladder and kidney problems.

People with CGD are unable to fight off common germs and get very sick from infections that would be mild in healthy people. This is because the presence of CGD makes it difficult for cells called neutrophils to produce hydrogen peroxide. The immune system requires hydrogen peroxide to fight specific kinds of bacteria and fungi. These severe infections can include skin or bone infections and abscesses in internal organs (such as the lungs, liver or brain). Aside from the defective neutrophil function in CGD, the rest of the immune system is normal. People with CGD can be generally healthy until they become infected with one of these germs. The severity of this infection can lead to prolonged hospitalizations for treatment.

Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that can lead to stomach pain, diarrhea, nausea, and vomiting. Other common areas of inflammation in people with chronic granulomatous disease include the stomach, colon, and rectum, as well as the mouth and throat. Additionally, granulomas within the gastrointestinal tract can lead to tissue breakdown and pus production (abscesses). Inflammation in the stomach can prevent food from passing through to the intestines (gastric outlet obstruction), leading to an inability to digest food. These digestive problems cause vomiting after eating and weight loss. In the genitourinary tract, inflammation can occur in the kidneys, bladder, and genitalia. Inflammation of the lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce immune cells, can lead to further impairment of the immune system.

The exact incidence of chronic granulomatous disease (CGD) is unknown. CGD affects approximately 1 infant per 200,000-250,000 live births.


In chronic granulomatous disease (CGD), immune system cells called phagocytes are unable to kill some types of bacteria and fungi. This disorder leads to long-term (chronic) and repeated (recurrent) infections. The condition is often discovered very early in childhood. Milder forms may be diagnosed during the teenage years or even in adulthood.

About half of CGD cases are passed down through families as a recessive, sex-linked trait. This means that boys are more likely to get the disorder than girls. The defective gene is carried on the X chromosome. Boys have 1 X and 1 Y chromosome. If a boy has an X chromosome with the defective gene, he may inherit this condition. Girls have 2 X chromosomes. If a girl has 1 X chromosome with the defective gene, the other X chromosome may have a working gene to make up for it. A girl has to inherit the defective gene from both parents in order to have the disease.

Babies and CGD – Female carriers of an X-linked disorder have a 25% chance with each pregnancy to have a carrier daughter like themselves, a 25% chance to have a non-carrier daughter, a 25% chance to have a son affected with the disease and a 25% chance to have an unaffected son. If a male with an X-linked disorder is able to reproduce, he will pass the defective gene to all of his daughters who will be carriers. A male cannot pass an X-linked gene to his sons because males always pass their Y chromosome instead of their X chromosome to male offspring.

Who is at Risk?

  • Race – Chronic granulomatous disease affects persons of all races.
  • Sex – Approximately 80% of patients with CGD are male, because the main cause of the disease is a mutation in an X-chromosome–linked gene. However, defects in autosomal genes may also underlie the disease and cause CGD in both males and females.
  • Age – Symptom onset typically occurs at a young age, although the diagnosis has been at an older age in some patients. Typically, patients with CGD have recurrent pyogenic infections that start in the first year of life. Occasionally, the onset may be delayed until the patient is aged 10-20 years.


  • Bone infections
  • Frequent and difficult-to-clear skin infections
  • Abscesses
  • Chronic infection inside the nose
  • Furuncles
  • Impetiginized eczema (eczema complicated by an infection)
  • Impetigo
  • Perianal abscesses (abscesses around the anus)
  • Joint infections
  • Persistent diarrhea
  • Pneumonia
  • Occurs frequently
  • Difficult to cure
  • Swollen lymph nodes in the neck; those develop early in life, and stay swollen or occur frequently. The lymph nodes may form abscesses that require surgical drainage.


  • Bone damage and infections
  • Chronic infections in the nose
  • Pneumonia that keeps coming back and is hard to cure
  • Lung damage
  • Skin damage
  • Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them


Medications – Antibiotics are used to treat the disease and may also be used to prevent infections. A medicine called interferon-gamma may also help reduce the number of severe infections. Surgery may be needed to treat some abscesses.

  • Sulfasalazine and azathioprine are useful steroid-sparing agents. Tumor necrosis factor alpha inhibitors such as infliximab are effective anti-inflammatory agents but might significantly increase the risk of severe and even fatal infections.
  • Methotrexate and hydroxychloroquine (Plaquenil) can be effective in those with arthritides or lupuslike problems.

Surgery – Bone marrow transplant is another treatment option for some people with severe symptoms of CGD.

Alternative Treatment

February 7, 2017

Childhood disintegrative disorder (CDD), or Heller’s syndrome, is a rare condition characterized by late onset, usually at three years of age onward. It typically features developmental delays in language, social function, and motor skills. Researchers have not been successful in finding a cause for the disorder.

CDD is among the 5 major types of autistic disorders and is sometimes referred to as Dementia Infantilis or Disintegrative Psychosis. Childhood Disintegrative Disorder is rare. It occurs approximately in 1 out of 1,00,000 children, however it is 4 times more prevalent in boys than in girls. Presently, it is believed that CDD may have been over-diagnosed in girls who actually had Rett’s Syndrome as opposed to CDD.

CDD is a form of autism that many believe may actually start while a child is in the womb. Regression can be very sudden and can happen anywhere from 2-10 years of age. Some children begin regressing before the symptoms become obvious to the parents while others showcase the symptoms in a way that educators and parents recognize the problem right away. Children can lose their fine and gross motor skills, control of bladder and bowel, social skills and self-care skills.

A disorder like Heller’s Syndrome can be very devastating for parents as the symptoms are very sudden and unexpected. Children often do not understand what is happening to them and are very alarmed at their condition . Children with Heller’s Syndrome must undergo therapy and may require expensive prescription drugs. Many parents must make financial sacrifices in order to care for their child and to ensure he or she receives the care needed.


There’s no known cause of childhood disintegrative disorder. There’s likely a genetic basis for autism spectrum disorders. The theory is that an abnormal gene is switched on in the early stages of development, before birth, and that this gene affects other genes that coordinate a child’s brain development. Environmental exposures, such as to a toxin or infection, may contribute to these effects.

Infections – It’s also possible that an autoimmune response may play a role in the development of childhood disintegrative disorder. In an autoimmune response, your body’s immune system perceives normal body components as foreign and attacks them.

Childhood disintegrative disorder often occurs along with other conditions, including:

  • Tuberous sclerosis – In this condition, noncancerous (benign) tumors grow in the brain.
  • Lipid storage diseases – In this rare group of inherited metabolic disorders, a toxic buildup of excess fats (lipids) occurs in the brain and nervous system.
  • Subacute sclerosing panencephalitis – This chronic infection of the brain is caused by a form of the measles virus that results in brain inflammation and the death of nerve cells.

Environmental Factors- Environmental factors have been implicated, although there is little conclusive evidence –

  • Toxins like lead, antimony and mercury have been found in high levels in the hair and blood samples of affected children. It may be that ASD children are unable to detoxify as efficiently as other children.
  • This hypothesis is similar to the premise behind the gluten- and casein-free diet. Peptides produced by gluten and casein act as morphine-like substances to ASD children and exaggerate their behaviours. Currently, however, there is insufficient evidence for improved behaviour with the exclusion diet.

Dietary intervention – There are indications that certain vitamins and mineral supplements may improve functioning in autistic people. While there is some disagreement regarding this amongst medical professionals, many parents have reported marked improvements after a program of nutritional supplements. There are also a number of clinical studies which strongly support the use of vitamin and mineral supplementation in the treatment of autism and have demonstrated significant improvement.

As nutrition is such a vital ingredient in brain development, it stands to reason that supplementation may have a positive benefit, although this would vary from individual to individual. Some experts have gone as far as to suggest that certain cases of autism could be as a result of nutritional deficiencies or mal absorption of nutrients from the diet. The subject is a very complex one and outside the scope of this discussion.

It’s unknown whether these conditions play a part in triggering childhood disintegrative disorder or share genetic or environmental risk factors.


Although included under the umbrella of autism spectrum disorders, childhood disintegrative disorder symptoms can appear and develop later than other autistic disorders. Children with disintegrative disorder may develop normally till about 2 years old and then show a sudden and/or extreme loss of previously acquired skills in at least 2 of the following areas (please refer to our article on does my child have autism.

  • Social Skills – Regression in the ability to relate and interact with others.
  • Play Skills – Loss of interest in games and imagination
  • Language – Severe decline in the ability to hold a conversation and sometimes even speak
  • Motor Skills – Severe and dramatic decline/regression in fine motor skills and walking. May also exhibit Tourette’s Syndrome Symptoms
  • Bowel & Bladder Control – Regression in potty training, frequent bowel and bladder incidents.

The loss of these skills may occasionally appear over time, however they tend to occur rapidly over a six to nine months time span. With the loss of gained skills, CDD then begins to resemble many of the different forms of autism. The key difference however is that skills lost will perhaps can be regained (even with intensive therapy).

Signs for Parents

Lack or loss of normal function – This lack or loss occurs in at least two of the following areas –

Social interaction – This may include a wide range of problems with social connectedness. Your child may have difficulty with nonverbal interactions, may not make friends with peers, and may lack the ability to share, recognize, understand and respond to others’ social cues and feelings.

Communication – This may include a delay or loss in the ability to speak or to start and maintain conversations. Your child also may use the same words over and over, and may not “get” imaginative or make-believe play.

Repetitive and stereotyped patterns of behavior, interests and activities – Your child may flap his or her hands, rock or spin (motor stereotypes and mannerisms); may become attached to specific routines and rituals; or may have difficulty with transitions or changes in routine. Many children with the disorder develop a fixed posture or body position (catatonia) and may become preoccupied with certain objects or activities.


Over 90% of children with CDD lose their self-help skills such as –

  • Feeding themselves
  • Washing
  • Learning new words, un-learning previously used words
  • Brushing teeth
  • Toilet usage
  • Alternate forms of communication such as sign language, expression, etc


Medications – There are no medications that directly treat childhood disintegrative disorder. However, severe behavior problems, such as aggression and repetitive movements, may sometimes be controlled by medications for anxiety or depression, or antipsychotic medications. Anticonvulsant drugs may help control epileptic seizures.

Behavior therapy – This therapy technique may be used by psychologists, speech therapists, physical therapists and occupational therapists as well as parents, teachers and caregivers. Behavior therapy programs may be designed to help your child learn or relearn language, social and self-care skills. These programs use a system of rewards to reinforce desirable behaviors and discourage problem behavior. A consistent approach among all health care team members, caregivers and teachers is important in behavior therapy.

Developmental, Individual Difference, Relationship based (DIR) – This type of therapy is carried out in natural settings such as home and pre-school. It aims at improvements in communication skills, thinking and social skills.

Interpersonal Synchrony – It focuses on social development and imitation skills and teaches children how to establish and maintain engagement with others.

For Parents

Learn about the disorder – There’s limited information about the cause of childhood disintegrative disorder. However, learning about treatment options will give you the knowledge to be an advocate for your child.

Find a team of trusted professionals – You’ll find it helpful to have a knowledgeable team of doctors, therapists and teachers to guide you as you make decisions related to your child’s care. They can help you keep abreast of new medications and therapies so that you can give your child the best available treatments.

Seek support from other families – Other families who have children with autism spectrum disorders may be a source of emotional support and provide encouragement and helpful suggestions. Support groups are available in many communities for parents and families with children who have autism spectrum disorders.

Take time for yourself and other family members – Caring for a child with child disintegrative disorder can be a full-time job that places stress on your marriage and family life. It’s important to take care of yourself and spend time with your spouse or significant other, as well as other family members. Schedule time to participate in family activities, enjoy a favorite hobby, exercise or just relax. It may also be beneficial to seek respite care on a regular basis in order to prevent caregiver burnout.

Complementary & Alternative Treatment

Alternative and Complementary therapies for disorders on the autism spectrum may include special diets, vitamin and mineral supplements, art therapy, music therapy, and sensory integration, a therapy technique used by occupational therapists to help children adapt to normal sensory experiences in the environment.

Creative Therapies – Some parents of CDD children choose to go for art therapy which includes art or music therapy, which aims at reducing child’s sensitivity towards touch or sound.

Yoga Therapies – Yoga is a mind-body approach which helps to control anxiety in CDD patients.

Chelation Therapy– This type of treatment is used to remove mercury and other heavy metals from the body.

Acupuncture– This therapy is used as a tool to improve CDD symptoms.

Nutritional Treatment

Melatonin – Melatonin is a naturally occurring hormone that regulates the sleep-wake cycle in CDD children, as they suffer from sleeping problems.

Omega-3 Fatty Acids – Fatty acids are very important in the development and function of the brain. Several studies have proven that omega3 fatty acids reduce the symptoms of CDD.

Nutritional Supplements- Studies show that children with CDD tend to be deficient in various nutrients. Multi vitamin supplements are highly suggested.

Gluten-free, Casein-free and Soy-free diet

Probiotic Intake – It helps in improving the gastrointestinal issues that CDD children suffer from.

How we Diagnose CDD

At our center, we perform a comprehensive diagnostic workup, which helps us to study the entire history of the child. This includes the following:

  • Allergy Testing- to determine food triggers and inhalant allergy.
  • Structured food elimination diet- to yield vital information about gastrointestinal functioned food tolerance
  • Urine Tests- to determine abnormal peptides from wheat or dairy products to see if gluten-free or casein-free diet should be implemented for the child.
  • Hair Analysis- to examine toxic metal and essential minerals for its toxicity or deficiency and suggests us the safest forms of detoxification or supplementation.
  • Hidden sources of toxic pollutants are examined
  • Neuropeptide Levels, the biomarkers of brain chemistry and function are tested to uncover certain imbalances that can be treated with individualized amino acid programs.
  • Organic Acid Analysis –to determine the metabolites of yeast and some bacteria species.

With the above way of treatment, we have successfully unlocked the mysteries behind altered brain function and resulted in providing comprehensive treatment that helps us to reach out to these children and help them to reach out to the world…


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February 7, 2017

Celiac Disease is an inherited autoimmune disorder that can occur in genetically predisposed people where the digestion of gluten leads to damage to small intestine. The symptoms are triggered by “gluten”, the name given to certain proteins in wheat (including spelt and kamut), barley, rye, and triticale (a cross between wheat and rye). In celiac disease, the body’s immune system responds abnormally to gluten, resulting in inflammation and damage to the lining of the small intestine, and reduced absorption of iron, calcium, vitamins A, D, E, K, and folate.

Celiac disease is now recognized as one of the most common chronic diseases in the world. It is estimated to affect 1 in 100 people worldwide. More than 2 million people in the United States have the disease, or about 1 in 133 people. Among people who have a first-degree relative—a parent, sibling, or child— diagnosed with celiac disease, as many as 1 in 22 people may have the disease.

What happens in Celiac Disease?

In the intestinal tract there are living microbes. The good bacteria are called flora, and the harmful microorganisms are called candida albicans (yeast). In health, the candida is overrun by the flora. Flora keeps the yeast in-check in a healthy individual. However, this ideal state is not common nowadays. With celiac disease, there is often so much candida (yeast overgrowth) in the intestinal tract that the immune system begins attacking the intestinal tract itself, because this part of the body is detected as being dangerously toxic. Celiac disease is exactly this panic response. For people suffering with it, starchy (glutenous) foods are especially aggravating to their already inflamed immune systems. These foods are likely to trigger hyper-immune responses amongst such people, to cause extreme irritation and gastrointestinal spasms. The disease makes the digestion of fats especially difficult too.

As mentioned earlier, people who have celiac disease cannot tolerate gluten, a protein in wheat, rye, and barley. Gluten is found mainly in foods but may also be found in everyday products such as medicines, vitamins, and lip balms. The moment people with celiac disease eat foods or use products containing gluten, their immune system responds by damaging or destroying villi—the tiny, fingerlike protrusions lining the small intestine. Villi normally allow nutrients from food to be absorbed through the walls of the small intestine into the bloodstream. Without healthy villi, a person becomes malnourished, no matter how much food one eats.

Celiac disease is both a disease of malabsorption—meaning nutrients are not absorbed properly—and an abnormal immune reaction to gluten. Celiac disease is also known as celiac sprue, nontropical sprue, and gluten-sensitive enteropathy.

What exactly is gluten?

Gluten is a protein that is found in flour made from wheat and is also contained in rye and barley. The gluten content of flours the reason that flour can be formed into dough and then rises during baking. Gluten in flours contained in many foods but especially bread and pastry


Researchers do not know the exact cause of celiac disease. Celiac disease sometimes runs in families. In 50 percent of people who have celiac disease, a family member, when screened, also has the disease.

A person’s chances of developing celiac disease increase when his or her genes—traits passed from parent to child—have variants, or changes. In celiac disease, certain gene variants and other factors, such as a person’s exposure to things in his or her environment, can lead to celiac disease.

For most people, eating something with gluten is harmless. For others, an exposure to gluten can cause, or trigger, celiac disease to become active. Sometimes surgery, pregnancy, childbirth, a viral infection, or severe emotional stress can also trigger celiac disease symptoms.


Symptoms of celiac disease vary from person to person. Symptoms may occur in the digestive system or in other parts of the body. Digestive symptoms are more common in infants and young children and may include

  • Abdominal bloating and pain
  • Chronic diarrhea
  • Vomiting
  • Constipation
  • Pale, foul-smelling, or fatty stool
  • Weight loss

Irritability is another common symptom in children. Malabsorption of nutrients during the years when nutrition is critical to a child’s normal growth and development can result in other problems such as failure to thrive in infants, delayed growth and short stature, delayed puberty, and dental enamel defects of the permanent teeth

Adults are less likely to have digestive symptoms and may instead have one or more of the following:

  • Unexplained iron-deficiency anemia
  • Fatigue
  • Bone or joint pain
  • Arthritis
  • Bone loss or osteoporosis
  • Depression or anxiety
  • Tingling numbness in the hands and feet
  • Seizures
  • Missed menstrual periods
  • Infertility or recurrent miscarriage
  • Canker sores inside the mouth
  • An itchy skin rash called dermatitis
  • Herpetiformis

People with celiac disease may have no symptoms but can still develop complications of the disease over time. Long-term complications include malnutrition—which can lead to anemia, osteoporosis, and miscarriage, among other problems—liver diseases, and cancers of the intestine.

Other Health Problems

People with celiac disease tend to have other diseases in which the immune system attacks the body’s healthy cells and tissues. The connection between celiac disease and these diseases may be genetic. They include

  • Type 1 diabetes
  • Autoimmune thyroid disease
  • Autoimmune liver disease
  • Rheumatoid arthritis
  • Addison’s disease, a condition in which the glands that produce critical hormones are damaged
  • Sjögren’s syndrome, a condition in which the glands that produce tears and saliva are destroyed

Dermatitis herpetiformis (DH) is an intensely itchy, blistering skin rash that affects 15 to 25 percent of people with celiac disease.3 The rash usually occurs on the elbows, knees, and buttocks. Most people with DH have no digestive symptoms of celiac disease.


The immune systems of celiac patients are so overdriven, that their risks of developing other serious heath problems, including cancers, are increased significantly. The risks are especially high when they are trying to suppress celiac symptoms with pharmaceuticals. Therefore, eliminating celiac disease naturally yields far-reaching benefits into the future.

The only current treatment for celiac disease and its skin form, dermatitis herpetiformis, is maintaining a strict gluten-free diet for life. Complete avoidance of gluten enables the intestine to heal, and the nutritional deficiencies and other symptoms to resolve. Children tend to heal more quickly than adults. Following a strict gluten-free diet also reduces the risk of developing many of the serious long-term complications related to untreated celiac disease.

Adjusting to a gluten-free diet can be challenging, since it involves knowing what foods contain gluten, and determining possible hidden sources of gluten in food products and medications. It also involves a number of lifestyle changes since many commonly eaten foods must be avoided, including pasta, most breakfast cereals and certain snacks, most breads and other baked goods including cakes, cookies, doughnuts, bagels, etc. Wheat flour and wheat starch are also frequently added as a thickener or stabilizer to soups, sauces, and processed meats and fish, including wieners, sausages, and imitation seafood. Barley is used in the manufacture of beer and of malt, a flavoring agent commonly used in food. To avoid hidden sources of gluten in the diet, knowledge of potential sources of gluten and careful reading of food ingredient lists is essential.


In some people, coeliac disease can cause the spleen to work less effectively, making the body more vulnerable to infection. However, if the spleen is unaffected by celiac disease, these vaccinations are not usually necessary.

  • Flu (influenza) jab
  • Hib/MenC vaccine, which protects against sepsis (blood poisoning), pneumonia and meningitis (an infection of the lining of the brain)
  • Pneumococcal vaccine, which protects against infections caused by the Streptococcus pneumoniae bacterium

Alternate Treatment                       

Alternate treatment focuses on –

  • Suppress candida (yeast) overgrowth
  • Stimulate healthy intestinal flora
  • Stimulate intestinal repair

These things can be accomplished merely through nutritional changes, but herbal supplements can help to accelerate the process.

Treating the Gut

  • Licorice root
  • Apple pectin is used to remove unwanted toxins and heavy metals (mercury, lead, aluminum, etc.), lower cholesterol, and reduce the side effects of exposure to radiation.
  • Marshmallow root controls and soothes inflammation and irritation of the alimentary canal.
  • MSM is concentrated in connective tissues. It promotes structural repair.
  • Aloe vera extract has the ability to move deep into damaged tissues to promote repair, and it is a mild laxative.
  • Paprika has helped celiac sufferers substantially.
  • Dandelion can be used in tea form for best absorption, or it may be obtained in supplemental capsules.
  • Probiotics – Comprised of good bacteria, probiotics help reestablish the bacterial environment in the gut. Eating probiotic food or taking a daily probiotic supplement is especially effective for treating celiac disease.
  • Avoid all products with soy.
  • Avoid canola oil.
  • Colloidal silver would be extremely beneficial in speeding up the process, especially in the beginning.
  • Garlic is an anti-microbial and will help fight and kill bacteria, fungus and infections in the gastrointestinal system. Use copious amounts.
  • Grapefruit seed extract
  • Vitamins A, E, folate (folic acid), and the mineral zincparticipate in beneficial antioxidant functions to reduce oxidative stress in the cellular lining of the gut. In this manner, they assist in the overall repair process. Some of the gut barrier functions, such as IgA secretion, can be enhanced by these vitamins.
  • Silica soothes inflammations in the gastrointestinal tract.


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February 7, 2017

Angelman syndrome is a genetic disorder that affects the nervous system and causes severe physical and intellectual disability. It is a severe neurological disorder characterized by profound developmental delays, problems with motor coordination (ataxia) and balance, and epilepsy. Individuals with AS do not develop functional speech. The seizure disorder in individuals with Angelman Syndrome can be difficult to treat. Feeding disorders in infancy are common, and some persist throughout childhood. Sleeping difficulties are commonly noted in individuals with Angelman Syndrome. AS affects all races and both genders equally.

Children with Angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short attention span, and a fascination with water are common. Most affected children also have difficulty sleeping and need less sleep than usual.

With age, people with Angelman syndrome become less excitable, and the sleeping problems tend to improve. However, affected individuals continue to have intellectual disability, severe speech impairment, and seizures throughout their lives. Adults with Angelman syndrome have distinctive facial features that may be described as “coarse.” Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine (scoliosis). The life expectancy of people with this condition appears to be nearly normal.

Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.


For the majority of people with AS, the cause is a deletion in chromosome 15.  This is true for about 70% of those diagnosed with AS.  Another five to seven percent have a mutation of the chromosomal region in UBE3A.  Two to three percent have no deletion or mutation, but the person is still missing the active UBE3A gene.  Some have unusual chromosomal rearrangements and for the rest (about 15%), the cause is still unknown.


Angelman syndrome is difficult to detect at birth. Between the ages of 6 and 12 months, developmental delays may become apparent. All individuals with Angelman syndrome have difficulty with speech and movement. Most have abnormal brain activity, seizures, and microcephaly (the circumference of the head is smaller than normal because the brain has not developed properly or has stopped growing).

Characteristic symptoms of Angelman syndrome that are usually present include:

  • Delayed motor development, such as delay in sitting, crawling and walking
  • Speech problems
  • Jerky, puppet-type movements
  • Stiff-legged walking style
  • Hand flapping
  • Hyperactive behaviour
  • Loving, happy and social demeanour
  • A child easily moved to laughter
  • Intellectual disability – a child with Angelman syndrome will have delayed development in all areas and disability is severe in most cases.

Characteristic symptoms of Angelman syndrome that are sometimes present include –

  • Small head
  • Characteristic EEG (brainwave) abnormalities
  • Epilepsy (occurs in 80 per cent of cases).


Complications associated with Angelman syndrome include –

  • Feeding difficulties – An inability to coordinate sucking and swallowing may cause feeding problems during the infant’s early months. Your pediatrician may recommend a high-calorie formula to help your baby gain weight.
  • Hyperactivity – Moving quickly from one activity to another, short attention span, and keeping hands or a toy in their mouths may characterize children with Angelman syndrome. Hyperactivity often decreases with age, and medication usually isn’t necessary.
  • Sleep disorders – People with Angelman syndrome often have abnormal sleep-wake patterns and need less sleep than normal. In some cases, sleep difficulties may improve with age. Medication and behavior therapy may help control sleep disorders.
  • Curving of the spine (scoliosis) – Some people with Angelman syndrome develop an abnormal side-to-side spinal curvature over time.
  • Obesity – Older children with Angelman syndrome tend to have large appetites, which may lead to obesity.


  • Anti-seizure medication to control seizures
  • Physical therapy to help with walking and movement problems
  • Communication therapy, which may include sign language and picture communication
  • Behavior therapy to help overcome hyperactivity and a short attention span and to aid in development

Alternative treatment

Speech-language therapy – Individuals with Angelman syndrome may benefit from speech-language therapy. During speech-language therapy, a qualified speech-language professional (SLP) works with the patient on a one-to-one basis, in a small group, or in a classroom to overcome speech and language problems. Programs are tailored to the patient’s individual needs. On average, patients receive five or more hours of therapy per week for three months to several years. Speech pathologists use a variety of exercises to improve the patient’s communication skills, with a focus on nonverbal communication for patients with Angelman syndrome.

Occupational therapy – Patients with moderate-to-severe intellectual disabilities may benefit from occupational therapy. During sessions, a therapist helps the child learn skills to help him or her perform basic daily tasks, such as feeding, dressing, and communicating with others.

Ketogenic diet – A ketogenic diet is a high-fat, adequate-protein, low-carbohydrate diet used to treat some forms of epilepsy in children. The diet mimics aspects of starvation by forcing the body to burn fat rather than carbohydrate stores. Normally, the carbohydrates in food are converted into glucose, which is then transported around the body and is particularly important in fueling the brain.

February 7, 2017

Amyloidosis is defined as a group of diseases in which one or more organ systems in the body accumulate amyloid proteins. It is a condition in which too much of amyloid protein collects in the organs, so that they are not able to work normally. Amyloidosis can affect the heart, kidneys, liver, spleen, nervous system, stomach or intestines. The condition is rare (affecting fewer than 4,000 people in the United States each year), but it can be fatal.

Amyloidosis is a rare and serious protein deposition disease. It is caused by an abnormal protein called amyloid that builds up in tissues or organs. These abnormal protein deposits (or amyloid) are relatively insoluble and therefore cannot be easily broken down by the body. As the amount of amyloid protein deposits increase in a tissue or organ, they interfere with the tissue or organ’s healthy function. Eventually, the amyloid protein deposits cause symptoms and organ failure.

Types of Amyloidosis –

Light chain (AL) amyloidosis -This is the most common type of amyloidosis in the United States. The amyloid proteins that build up in the tissues in this condition are known as light chains. They can either be kappa or lambda light chains. AL amyloidosis is a disorder of the plasma cells. Plasma cells are a type of white blood cell responsible for the production of immunoglobulins or antibodies, a type of protein that fights infection. In AL amyloidosis, these proteins are misshapen and produced in excess. They deposit in tissues, causing organ damage. AL amyloidosis can affect one or more organs. The heart, kidneys, nerves, and gastrointestinal system are the most common organs affected. Because AL amyloidosis is associated with the overproduction of plasma cell proteins, it is linked to multiple myeloma.

Autoimmune (AA) amyloidosis – In this condition, the amyloid protein that builds up in the tissues is called the A protein. AA amyloidosis is associated with some chronic diseases, such as diabetes, tuberculosis, rheumatoid arthritis, or inflammatory bowel disease. It may also be linked to aging. AA amyloidosis can affect the spleen, liver, kidneys, adrenal glands, and lymph nodes. Lymph nodes are tiny, bean-shaped organs that fight infection.

Hereditary or familial (AF) amyloidosis – Hereditary amyloidosis is rare. It is a specific type of amyloidosis that can be passed down from generation to generation within a family. It may cause issues relating to the central nervous system, carpal tunnel syndrome, and eye abnormalities. The most common subtypes involve a protein called transthyretin (TTR).


No one knows what causes amyloidosis. There may be more than one cause. Hereditary amyloidosis results from genetic changes that cause the body to make abnormal proteins. Researchers think that as we get older, damage builds up in the body and triggers the disease. This kind of damage may come from the body’s use of oxygen (oxidation) and from free radicals (harmful byproducts formed when cells use energy). Amyloid is also more likely to form in people who have immune system problems. Once amyloid deposits start, they seem to continue building up in the same locations. The heart, kidneys, nervous system, and GI tract are the most commonly affected.

Who is at Risk?

  • Men – two thirds of people with AL are men.
  • People over age 50 – even in people with hereditary forms, doctors usually detect amyloid deposits severe enough to cause problems later in life.
  • Disease affecting the antibody-producing plasma cells in the blood (such as multiple myeloma, malignant lymphoma, benign monoclonal gammopathy, or Waldenström’s macroglobulinemia)
  • Chronic infectious or inflammatory disease (such as rheumatoid arthritis, inflammatory bowel disease, familial Mediterranean fever, or ankylosing spondylitis)
  • Long-term dialysis
  • Inherited genetic changes that affect proteins in the body


Signs and symptoms of amyloidosis may include –

  • Swelling of your ankles and legs
  • Severe fatigue and weakness
  • Shortness of breath
  • Numbness, tingling or pain in your hands or feet, especially pain in your wrist (carpal tunnel syndrome)
  • Diarrhea, possibly with blood, or constipation
  • Feeling full quickly when eating, and significant weight loss
  • An enlarged tongue
  • Skin changes, such as thickening or easy bruising, and purplish patches around the eyes
  • An irregular heartbeat
  • Difficulty swallowing

Other Complications –

  • Heart – Because amyloid protein deposits can limit the heart’s ability to fill with blood between beats, even the slightest exertion can cause shortness of breath. If the heart’s electrical system is affected, the heart’s rhythm may become erratic. The heart may also be enlarged and heart murmurs may be present. Congestive heart failure may result.
  • Kidneys – The feet, ankles, and calves swell when amyloidosis damages the kidneys. The kidneys become small and hard, and kidney failure may result. It is not unusual for a patient to lose 20-25 pounds and develop a distaste for meat, eggs, and other protein-rich foods. Cholesterol elevations that don’t respond to medication and protein in the urine (proteinuria) are common.
  • Nervous system – Nervous system symptoms often appear in patients with familial amyloidosis. Inflammation and degeneration of the peripheral nerves (peripheral neuropathy) may be present. One of four patients with amyloidosis has carpal tunnel syndrome, a painful disorder that causes numbness or tingling in response to pressure on nerves around the wrist. Amyloidosis that affects nerves to the feet can cause burning or numbness in the toes and soles and eventually weaken the legs. If nerves controlling bowel function are involved, bouts of diarrhea alternate with periods of constipation. If the disease affects nerves that regulate blood pressure, patients may feel dizzy or faint when they stand up suddenly.
  • Liver and spleen – The most common symptoms are enlargement of these organs. Liver function is not usually affected until quite late in the course of the disease. Protein accumulation in the spleen can increase the risk of rupture of this organ due to trauma.
  • Gastrointestinal system – The tongue may be inflammed, enlarged, and stiff. Intestinal movement (motility) may be reduced. Absorption of food and other nutrients may be impaired (and may lead to malnutrition), and there may also be bleeding, abdominal pain, constipation, and diarrhea.
  • Skin – Skin symptoms occur in about half of all cases of primary and secondary amyloidosis and in all cases where there is inflammation or degeneration of the peripheral nerves. Waxy-looking raised bumps (papules) may appear on the face and neck, in the groin, armpits, or anal area, and on the tongue or in the ear canals. Swelling, hemorrhage beneath the skin (purpura), hair loss, and dry mouth may also occur.
  • Respiratory system – Airways may be obstructed by amyloid deposits in the nasal sinus, larynx and traches (windpipe).


  • Diuretics to relieve swelling caused by fluid retention
  • Anti-arrhythmics to control heart rhythm
  • Metoclopramide to help empty food from the stomach
  • Antibiotics to control bacteria that may cause diarrhea or prevent the body from absorbing nutrients
  • Anti-inflammatory/immune suppressive therapy to reduce amyloid precursor load
  • Dialysis, if the kidneys are failing
  • Peripheral blood stem cell transplantation – During peripheral blood stem cell transplantation, high-dose chemotherapy is administered along with transfusion of stem cells (immature blood cells) to replace damaged bone marrow. These stem cells may come from the patient (autologous transplant) or from a donor (allogeneic transplant). Autologous transplant is the preferred method.
  • Anti-cancer medication (“antineoplastics”) – Melphalan (Alkeran®), an agent used to treat certain types of cancer, has been prescribed to amyloidosis patients as well. Other types of chemotherapy treatments, like melphalan with high-dose dexamethasone or VAD (vincristine, adriamycin and dexamethasone), are being tested for safety and efficacy in the treatment of amyloidosis. Other medications, including thalidomide, a drug used to treat multiple myeloma, are also being tested for their ability to inhibit the disease.
  • Corticosteroids -Corticosteroids like prednisone have been prescribed to amyloidosis patients because of their anti-inflammatory effects.
  • Liver transplantation – For hereditary amyloidosis, one possible therapy may be liver transplantation because the protein that causes this form of amyloidosis is produced in the liver.

Alternative Treatment

DMSO (dimethyl sulfoxide) – DMSO may change the course of amyloidosis if treatment is started early. However, there is not much scientific support for this claim.

Germanium – Studies suggests that germanium compounds may prevent amyloidosis. Results can only be considered preliminary at this time.

Resveratrol – Preliminary data suggests that resveratrol may play a role in the prevention of amyloidosis. High quality clinical research is needed to better understand this relationship.

Omega-3s – These are also essential dietary elements when suffering from amyloidosis. Commonly found in many types of meat, these beneficial fatty acids, particularly the type found in fish oil, can significantly protect your heart and vascular system, ensuring that your circulatory system remains healthy and functioning properly, while also reducing the chances of coronary heart disease and atherosclerosis, which can quicken the complications of amyloidosis in the cardiovascular system.

Vitamin C – Study suggested that high doses of vitamin C may help the body break down amyloid and prevent amyloidosis from worsening, but there is no evidence this works in humans.

Bromelain – An enzyme derived from pineapple, fights inflammation and may help break down amyloid deposits in kidney tissue, though evidence is slight. Bromelain is often combined with turmeric, which strengthens its effects. Bromelain can interact with certain medications including some antibiotics.

Glutathione is an antioxidant produced by the body. Low levels may be associated with higher levels of beta2-microglobulin in people on dialysis with or without amyloidosis.

Quercetin is an antioxidant with anti-inflammatory properties. It has not been studied for amyloidosis.

Gingko extract also contains flavonoids. It has been suggested as a treatment for Alzheimer’s disease.


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February 7, 2017

Adrenoleukodystrophy (ALD) is a rare, genetic disorder characterized by the breakdown or loss of the myelin sheath surrounding nerve cells in the brain and progressive dysfunction of the adrenal gland. ALD is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath – the fatty covering – on nerve fibers in the brain.

A demyelinating disease is any of the nervous system in which the sheath of neurons is damaged. This impairs the conduction of signals in the affected nerves, causing impairment in sensation, movement, cognition, or other functions depending on which nerves are involved.The term describes the effect of the disease, rather than its cause; some demyelinating diseases are caused by genetics, some by infectious agents, some by autoimmune reactions, and some by unknown factors. Multiple Sclerosis is perhaps the most common demyelinating illness.

The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia.

The milder adult-onset form is also known as adrenomyeloneuropathy (AMN), which typically begins between ages 21 and 35. Symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. Almost half the women who are carriers of X-ALS will develop a milder form of AMN but almost never will develop symptoms seen in boys the X-ALD. X-ALD should not be confused with neonatal adrenoleukodsystrophy, which is a disease of newborns and young infants and belongs to the group of peroxisomal biogenesis disorders.

X-linked adrenoleukodystrophy – Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting certain fat molecules called very long-chain fatty acids (VLCFAs) into peroxisomes. Peroxisomes are small sacs within cells that process many types of molecules, including VLCFAs.

ABCD1 gene mutations result in a shortage (deficiency) of ALDP. When this protein is lacking, the transport and subsequent breakdown of VLCFAs is disrupted, causing abnormally high levels of these fats in the body. The accumulation of VLCFAs may be toxic to the adrenal cortex and myelin. Research suggests that the accumulation of VLCFAs triggers an inflammatory response in the brain, which could lead to the breakdown of myelin. The destruction of these tissues leads to the signs and symptoms of X-linked adrenoleukodystrophy.

The prevalence of X-linked adrenoleukodystrophy is 1 in 20,000 to 50,000 individuals worldwide. This condition occurs with a similar frequency in all populations.


The genetic defect in ALD causes a decrease in the ability to degrade very long chain fatty acids. These build up in the adrenal glands, brain, plasma, and fibroblasts. The build-up of very long chain fatty acids interferes with the ability of the adrenal gland to convert cholesterol into steroids and causes demyelination of nerves in the white matter of the brain. Demyelinated nerve cells are unable to function properly.

The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity. There are three major categories of disease:

  • Childhood cerebral form — appears in mid-childhood (at ages 4 – 8)
  • Adrenomyelopathy — occurs in men in their 20s or later in life
  • Impaired adrenal gland function (called Addison disease or Addison-like phenotype) — adrenal gland does not produce enough steroid hormones


Signs of childhood cerebral ALD include –

  • Muscle spasms
  • Seizures
  • Trouble swallowing
  • Loss of hearing
  • Trouble with language comprehension
  • Impaired vision
  • Hyperactivity
  • Paralysis
  • Coma
  • Deterioration of fine motor control
  • Crossed eyes

Signs of adrenomyelopathy include –

  • Poor control of urination
  • Weak muscles
  • Stiffness in the legs
  • Difficulty thinking and remembering visual perceptions

Signs of adrenal gland failure or Addison’s disease include –

  • Poor appetite
  • Weight loss
  • Decreased muscle mass
  • Vomiting
  • Weak muscles
  • Coma
  • Darker areas of skin color or pigmentation


Adrenal Replacement – the replacement of the faulty adrenal function often present in X-ALD. The adrenal glands are next to the kidney, and produce certain important hormones. If the adrenal functions are not properly functioning, these hormones need to be replaced. If adrenal function is reduced, provide replacement therapy.

Bone Marrow Transplantation – bone marrow transplantation has not been successful in patients with advanced neurological involvement, but only in patients in earlier stages of the disease.

Lorenzo’s oil – This is a mixture of two oils (glyceryl trieucate, or GTE, and glyceryl trioleate, or GTO). It is thought to aid in the normalization of the fatty acid levels. However, this oil does not seem to alter the progression of the disease once the brain is involved. It is not yet clear if Lorenzo’s oil could prevent progression prior to symptoms.

Alternative Treatment