Tag Archives: Charcot-Marie-Tooth

HIV, CF, CMT, and HD in CR

The presence of organizations in the Czech Republic that cares for its citizens with human immunodeficiency virus (HIV), cystic fibrosis (CF), Charcot-Marie-Tooth (CMT), and Huntington’s Disease (HD) could only mean that the mentioned diseases are prevalent there and, therefore, should be controlled.

The human immunodeficiency virus (HIV) is a virus that attacks the immune system. Without it, our bodies would have trouble fighting off diseases. It could lead to dementia, anxiety and depression, and seizure, among others.

As such, the Bill and Melinda Gates foundation donated $140 million dollars to search for its cure. It would be similar to a pump in the form of an implant.

Cystic fibrosis (CF) is an inherited disorder that can damage the cells in the body that produce mucus, sweat and digestive juices. It can affect the respiratory system, gastrointestinal system, musculoskeletal system, genitourinary system, and the reproductive system. The disease is caused by a defect in a single gene, which scientists refer to as CFTR.

Recently, though, researchers at the Case Western Reserve University have found a way to replace the gene that causes CF with a new imaging technique.

It is called the tri-modal imaging device that consists of an x-ray, the first modality that can tell about the structure; and the gamma emission and the optical, the other two modalities that can both give information function.

Charcot-Marie-Tooth (CMT) is caused by mutations in genes that produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath. Once it degenerates, the motor nerves could result in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet) while the sensory nerves could bring about a reduced ability to feel heat, cold, and pain.

Last October 24, 2016, though, scientists at the Washington University School of Medicine in St. Louis and Stanford University reported that they have designed small compounds with a potential to correct the mitochondrial dysfunction in CMT. “This mitochondrial protein has never been targeted before,” the senior author Gerald W. Dorn II, MD, the Philip and Sima K. Needleman Professor of Medicine was quoted saying in a report.

A progressive brain disorder, Huntington’s Disease causes uncontrolled movements, emotional problems, and loss of thinking ability (cognition). It usually happens in a person’s thirties or forties (adult-onset Huntington disease) or during childhood or adolescence (juvenile Huntington’s disease) and affects an individual’s walking, speaking, and swallowing.

Fortunately, an electric wheelchair was invented by Dr. Yodchanan Wongsawat from the Center for Biomedical and Robotics Technology Faculty of Engineering at Mahidol University in Thailand. It has an automated navigation system that can adapt on whether the hands of the user are still functional. If it is, a patient could use their hands. If it is not, the modes can be operated by one’s chin or eye.

The wheelchair can also detect obstacles on the floor with its Rotating Laser Scanner, map location with its Laser Scanner, describe commands with its 7’’ LCD screen, and acquire data with its Mini-PC.

Another device, the Eye Gaze System, can generate speech by simply looking at control keys or cells displayed on a screen. It could empower people with Huntington’s disease—particularly those in later stage—since they usually have poor muscle coordination, mental decline, and behavioral symptoms.

“Congress acknowledged that society’s accumulated myths and fears about disability and disease are as handicapping as the physical limitations that flow from actual impairment.” ~William J. Brennan, Jr.

Video taken from the YouTube Channel of the AP Archive

Help in Czech Republic

Established in 2000, the Czech National Disability Council (CNDC) has aimed to advocate, promote and meet the rights, interests, and needs of disabled people in the country, regardless of the type or extent of their impairment. It has collaborated with the state administration and local government at all levels as well as with organizations and institutions working in this field at both the national and regional level.

It is the advisory body of the Governmental Board for People with Disabilities. It is a member of the governing board of the national development programme Mobility for All. It is a member as well of the joint committee for the Programme of Development and Renovation of Public Transport Vehicles, and the two Boards of the Association of Cities and Municipalities.

Aside from those, the CNDC collaborates actively, too, with the Association of Regions of the Czech Republic, the Association of Employers of Disabled People in Czech Republic, and the Trade Union of Employees in Health and Social Service in the Czech Republic.

Comprising it are member organizations, among of which is the ARCUS Cancer Centre that was founded in 1993. It has helped cancer patients and their families since then under the chairmanship of John Koželská, winner of the Olga Havel signatory of the Paris Charter against Cancer.

There are also organizations specifically designed to cater Czechs with human immunodeficiency virus (HIV), cystic fibrosis, Charcot-Marie-Tooth, Huntington Disease, chronic diseases, and deafness.

The Czech AIDS Help Society was established in 1989 as a self-support initiative of PLWHIV [people living with HIV]. Through finances from grants, donations, and fees in its own activities, the Czech AIDS Help Society continues to promote HIV prevention and awareness through anonymous and free-of-charge HIV testing; shelter accommodation services to PLWHIV in its own social center, the Dum Svetla (Lighthouse); on-site HIV/AIDS counseling service in Prague and Ostrava; a national toll-free HIV/AIDS hotline; legal assistance to PLWHIV that were discriminated against; and anti-stigmatization campaigns.

The Czech Cystic Fibrosis Organization was founded in 1992 by the parents of the children who has it. Originally, it was called the Club of Parents and Friends of Children Cystic Fibrosis. The parents pass on practical experiences to each other; in early days, the club voluntarily works for several mothers of sick children. It still involved in “active” parents till this day to handle the provision of the patients, and, together with the staff, promote cooperation among the center; inform the public about cystic fibrosis; protect the legitimate interests of the patients; secure funding for the activities of the club; subsidize the necessary equipment;  and support families of CF patients with low incomes financially.

Society CMT, on the other hand, is an association founded in June 1999. Its objective is to defend, promote, and fulfill the interests and needs of those sickened with Charcot – Marie – Tooth, a neurological disorder that affect the nerves outside the brain and spinal cord, in coordination with state and local governments.

Widowed by the American folk singer Woody Guthrie who suffered from Huntington’s Disease, Marjorie founded an association for those with the rare inherited disease as well. It—the Czech Huntington Association—started to set up a self-help organization in May 14, 1991 to “map” the cause of an illness in Bohemia and Moravia characterized by progressive dementia, abnormal posture, and involuntary movements.

To prevent the “diseases of civilization” (e.g. cardiovascular disease, diabetes, asthma, allergy, oncological diseases, epilepsy, multiple sclerosis, severe renal and metabolic diseases, osteoporosis, vertebral diseases, etc.), the Union of Persons Affected by Chronic Diseases in the CR spread its network of 330 organizations in 290 towns and villages in the Czech Republic with its 55,000 members.

Those with hearing impairment, meanwhile, can go to the Czech-Moravian Unity of the Deaf. It was founded in Brno in 1998 and operates in Olomouc, Breclav, Jihlava, Pilsen, and Prague, aside from there. Its aim: unite the other associations for the hearing-impaired in the region to “effectively promote their mutual cooperation.”

This is not to say that Czechs with mental disability are neglected in the country. They are, in fact, encourage to “expand their opportunities in various fields of life” by the Society for Integration of Mentally Disabled Persons (DUHA); “live independently” by the Inclusion Czech Republic; and “take responsibility for their decisions” by the Pohoda (Comfort).

The Association for Complex Care of People with Cerebral Palsy would inform the public everything that has to be learned about the disease. The DEMKA Club would work with the families of PWDs in reacquainting themselves with the rest of the society.

The Czech Paraplegics Association (CZEPA) would protect the rights and interests of people afflicted with spinal cord injury (SCI). The Union for Rehabilitation of Persons with Cerebral Vascular Accidents would look after Czechs sickened with stroke.

Other organizations for PWDs in the country are the Association of Physically Handicapped in the Czech Republic, Association of  Persons with Disabilities and Their Friends, Helping Hand, Home For Me, Assistence O.P.S., Association of Parents and Friends of Handicapped children in the Czech Republic, and Czech Abilympijská Association.

“The only disability in life is a bad attitude.” ~ Scott Hamilton

Video taken from the YouTube Channel of Flux Us