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If Your Illness Has No Name
Late Infantile NCL is a rare disease. Affected children suffer mental impairment, worsening seizures and progressive loss of sight and motor skills. It is always fatal. So when Kaitlin Bowman of Corinth, now 5, was diagnosed, “It was heartbreaking,” says her great-aunt, Debra Park, of Saratoga Springs. “And the grief is incremental with the setbacks.” Kaitlin’s single mother, Becky, tends to every aspect of her daughter’s care. Becky has been proactive in researching the disease, seeking out the few medical experts who have experience dealing with it, acquiring equipment to keep Kaitlin both mobile and safe, applying for clinical trials and even helping to organize fundraisers to defray the enormous costs associated with Kaitlin’s treatment. Says Park, who spends quality time at home with Kaitlin, “One way Becky stays on track is through networking with other families who have coped with the disease. You would think this would be an isolating experience but the community has pulled together with empathy. People reach out. It has been heartwarming, despite times of deep despair.” Coping with the situation actually has made the family closer, especially in their admiration for Becky, says Park, who is amazed by her niece’s ability “to balance compensating for Katilin’s disabilities with doing what’s possible to treat her like any normal little girl.” The important thing, emphasizes Park, is to heighten awareness, “get into the newspaper above the fold” and make connections. Learn more about Kaitlin at www.comingtogetherforkaitlin.blogspot.com. - Helen Susan Edelman, LiveSmart Project Director email@example.com
Rare Psychiatric Disorders Olfactory Reference Syndrome Olfactory reference syndrome makes its victims think they smell bad when they don’t. This delusion can have consequences serious enough that psychiatrists are considering listing it as a separate disorder in the Diagnostic and Statistical Manual of Mental Disorders. According to Dr. Katharine Phillips, a psychiatrist at Rhode Island Hospital and a professor of psychiatry at Brown University, people with ORS feel they are so repugnant to society that no one would ever want to stand near them. Often sufferers fall into depression and shut out the world because of their imagined stench. “A lot of these people go to see GI doctors, surgeons, or dentists and dermatologists — one patient in our study had their tonsils removed because they thought that their breath smelled so bad,” said Phillips. Capgras Delusion Individuals with Capgras delusions hold a belief that an acquaintance, usually a spouse or other close family member, has been replaced by an identical-looking impostor. It is most common in patients with schizophrenia, although it can occur in those with dementia or after a brain injury. Versions of this condition have been popular in science fiction books and films, such as “Invasion of the Body Snatchers,” “Total Recall” and “The Stepford Wives.” Cotard Delusion Those suffering Cotard delusions (a.k.a. Cotard’s Syndrome or Walking Corpse Syndrome) believe that they are dead, do not exist, are putrefying or have lost their blood or internal organs. In rare instances, it can include delusions of immortality The syndrome is named after Jules Cotard (1840–1889), a French neurologist who first described the condition, which he called le délire de négation (“negation delirium”), in a lecture in Paris in 1880. He described the syndrome as having degrees of severity that range from mild to severe. Despair and self-loathing characterize a mild state. In this lecture, Cotard described a patient with the pseudonym “Mademoiselle X,” who denied the existence of God, the devil, several parts of her body and her need to eat. Later she believed she was eternally damned and could no longer die a natural death. She died of starvation. Fascinated by rare, documented neuropsychiatric disorders? Read “The Man Who Mistook His Wife for a Hat” by Dr. Oliver Sacks.
suspect everyone in the Capital Region has heard about 6-year old Hannah Sames. She’s the little Clifton Park girl who suffers a rare disease: Giant Axonal Neuropathy, GAN for short. It’s a rare, genetic disorder that usually appears early in childhood and progressively robs one of the ability to move. It’s terminal. It’s so rare that getting a diagnosis was difficult. It’s so rare, one might call it an “orphan disease,” and that means there’s scant money for research to find a cure. So, her parents are dedicating their lives to raising funds. They’ve already secured a Pepsi refresh grant and as of this writing are working on winning another one. Their efforts are tireless and have to be because when money for medical research is tight it goes to diseases that affect the most people. That leaves children like Hannah behind. If you’d like more information on Hannah’s Hope check out www.hannahshopefund.org.
— Benita Zahn News Anchor/Health Reporter WNYT/NewsChannel 13
Read Benita’s blog at http://wnyt.com/article/558 LiveSmart supports the Great Expectations Fund at The Community Foundation for the Capital Region and is made possible by donations from St. Peter’s Health Care Services and Price Chopper, with promotional services provided by the Times Union and WNYT/NewsChannel 13. LiveSmart is compiled by Helen Susan Edelman, Project Director. This project ensures 70,000 students and teachers in the Capital Region have equal access to news content during the school year.
By Ellie Wilson, MS, RD Senior Nutritionist, Price Chopper Supermarkets
uring my tenure with the Oley Foundation, a national nonprofit that serves anyone requiring tube-feeding or intravenous nutrition (tpn), I was introduced to the National Organization for Rare Disorders (NORD). The mission of the Oley Foundation is to assist those who must use artificial nutrition therapies, regardless of their diagnosis. Because Oley is focused on nutrition-therapy management versus a specific disease or illness, its membership is a vast cross-section of children and adults with a myriad of issues. Often, Oley staff are contacted by someone with a mysterious range of concerns that cannot be well defined, or whose set of symptoms doesn’t fit into any typical standard diagnosis. We often connected those folks to NORD. NORD is dedicated to helping people with rare “orphan” diseases, and to supporting the organizations that serve them. Some 6,000 rare disorders (a disorder diagnosed in fewer than 200,000 people) affect 25 million Americans. NORD has served as a primary nongovernmental clearinghouse for almost 20 years, and is supported by contributions, membership fees and sales of books and rare disease reports. The organization was founded in 1983 by families and patients who worked together to get the Orphan Drug Act passed. This legislation has provided the pharmaceutical industry with financial incentives to encourage new treatments for rare diseases. NORD provides information about diseases, patient organizations, research grants, fellowships, advocacy and medication assistance programs. NORD also administers programs that assist uninsured or underinsured individuals to secure life-saving or life-sustaining medications. NORD reports are written by medical writers or physicians, and content is reviewed for accuracy. One of its most valuable features is that it maintains a confidential networking program, which can sometimes connect individuals with the same rare disorder. If you or someone you know has a rare disorder, consider contacting NORD at 203-744-0100 or (toll free) 800-999-6673 or go to www.raredisorder.org.
Healthy U Connection Get free answers to questions about nutrition and healthy eating. Ask Corporate Nutritionist, Ellie Wilson, R.D., M.S., how your favorite foods can fit your lifestyle and improve the way you feel, look and eat. To email Ellie, visit www.pricechopper. com and click Healthy U Connection; or call 1-800-666-7667, and choose option 2. Healthy U addresses general nutrition concerns. Ask a doctor if your question is related to diet for a medical condition.
Charcot-Marie-Tooth Disease By Melinda Lang, R.Ph. Upstate New York Chapter Charcot-Marie-Tooth Association
harcot-Marie-Tooth disease (CMT) is a degenerative neurological disorder, named after the three physicians who first described it in 1886: Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom. Although most people have never heard of CMT, it affects an estimated 120,000 Americans and 2.6 million people worldwide. CMT damages peripheral nerves that connect the brain and spinal cord to muscles and sensory organs. This nerve damage, or neuropathy, leads to muscle weakness and wasting, mostly in the extremities of the body — the feet, the lower legs, the hands and the forearms. Other symptoms include loss of sensation in the feet, lower legs, hands and forearms; loss of balance; muscle cramps and contractures; and scoliosis or curvature of the spine. The loss of nerve function is often accompanied by tingling and burning sensations in the hands and feet, sometimes causing severe neuropathic pain. Although weak ankles and foot deformities such as foot drop, hammertoes and high arches are symptomatic of CMT, this rare neurological disorder often goes unnoticed until lower-leg weakness becomes pronounced. A neurologist can perform electrodiagnostic testing including a nerve conduction velocity test (NCV), which measures the strength and speed of electrical signals moving down the peripheral nerves. Delayed responses are a sign of demyelination (CMT type 1) and small responses are a sign of axonopathy (type 2). An electromyogram (EMG) also may be used
to measure the electrical signal’s strength in the muscles of the arms or legs. Although there is no cure for CMT, treatments such as physical therapy and exercise to strengthen non-affected muscles can help manage the symptoms. As hand function is affected, holding writing utensils, buttoning clothing, grasping zipper pulls and turning doorknobs can become increasingly difficult. Occupational therapy offers some benefits in accomplishing these everyday tasks with the use of assistive devices. The Upstate New York Chapter of the CMT Association hosts a support group meeting every other month for individuals and families affected by this disease. Meetings have featured scheduled speakers including an orthotist, neurologist, physical therapist, nutritionist and medical social worker. The next meeting is scheduled for Saturday, Dec. 4, at 1:30 p.m. at the Pine Hills Branch of the Albany Public Library, 517 Western Avenue in Albany. A physical therapist will speak on the benefits of pool therapy. For more information, contact Melinda Lang at 518-783-7313 or email: sag_upstateny@ cmtausa.org. This week, St. Peter’s invited retired pharmacist and local Charcot-Marie-Tooth disease advocate Melinda Lang, R.Ph., to serve as a guest columnist for LiveSmart.
If you or a member of your family needs a physician or information about other St. Peter’s services, call the St. Peter’s Physician Referral & Information Line at 525-2CARE (525-2227).
The Orphan Drug Act of 1983
n “orphan drug” is a pharmaceutical agent that has been developed specifically to treat a rare medical condition, also referred to as an “orphan disease.” The assignment of orphan status to a disease, and to any drugs developed to treat it, is a matter of public policy in many countries, and has resulted in medical breakthroughs that
may not have otherwise been achieved due to the economics of drug research and development. The Orphan Drug Act (ODA) of January 1983 is meant to encourage pharmaceutical companies to develop drugs for diseases that have a small market. Under the law, companies that develop such a drug for a disorder affecting fewer than 200,000 people in
the United States may sell it without competition for seven years and may get clinical trial tax incentives. Under ODA, many orphan drugs have been developed, including drugs to treat glioma, multiple myeloma, cystic fibrosis, phenylketonuria, snake venom poisoning and idiopathic thrombocytopenic purpura.