Acoustic neuroma symptoms

Susan fishbein was a clumsy child. She couldn’t climb stairs without falling. She was always dropping things, always spilling things when she poured.Acoustic neuroma symptoms nhs in 1983, after a bout with pneumonia, fishbein, then a 33-year-old mother of two, living in erdenhiem, del., began falling more frequently.Acoustic neuroma symptoms nhs after breaking both ankles and suffering a severe knee injury within a few months, she began a round of medical tests.

Four years and numerous misdiagnoses later, a blood test revealed the shocking news: fishbein’s coordination problems were symptoms of tay-sachs, a disease previously thought to affect only infants, who usually succumb by the age of 5.Acoustic neuroma symptoms nhs fishbein was among the first adults recognized to be suffering from a rare variant of tay-sachs disease, known as late onset tay-sachs (LOTS).Acoustic neuroma symptoms nhs

People with LOTS are predominantly of ashkenazic jewish descent, although the disease also occurs in other ethnic groups.Acoustic neuroma symptoms nhs while there are fewer than 100 known cases of LOTS, the prevalence of this rare disease is estimated to be one in 67,000 within the U.S.Acoustic neuroma symptoms nhs jewish population. Specialists believe that the actual number of individuals who carry this disorder is probably higher.Acoustic neuroma symptoms nhs the higher number would include some people who have been incorrectly diagnosed with amyotrophic lateral sclerosis, or lou gehrig’s disease, or spinal muscular atrophy, also known as kugelberg-welander disease.Acoustic neuroma symptoms nhs

Families of affected individuals often note that their speech is becoming increasingly difficult to understand. Another unusual feature of this disorder is the presence of psychiatric disturbances in a large number of cases.Acoustic neuroma symptoms nhs physicians have come to recognize that such psychiatric disturbances, especially manic-depressive disorder, can be symptoms of LOTS.Acoustic neuroma symptoms nhs

The same gene causes both the infantile and late onset forms of tay-sachs disease, but the defect caused by the gene — a deficiency of the hexosaminidase A enzyme — is less severe in late onset tay-sachs.Acoustic neuroma symptoms nhs the pattern of inheritance is the same for both forms of the disease. LOTS can be diagnosed by a blood test that measures enzyme levels.Acoustic neuroma symptoms nhs getting the correct diagnosis and receiving medical care from health professionals who are well-acquainted with the disorder is particularly important if psychiatric problems are present.Acoustic neuroma symptoms nhs

There is no known cure or treatment available for late onset tay-sach, yet those affected now have a glimmer of hope that one may be found.Acoustic neuroma symptoms nhs doctors around the world are in the process of conducting experiments with enzyme replacement and gene therapy. Dr. Evan snyder, a harvard neurologist, has already cured the disease in mice.Acoustic neuroma symptoms nhs with continued research, snyder said a human cure may be close.

Unfortunately, government funding for rare diseases such as late onset tay-sachs is almost nonexistent.Acoustic neuroma symptoms nhs tay sachs awareness peaked during the 1970s, said local LOTS fund-raiser bonnie pastor, and then fell off dramatically. Private donations are necessary for research and education.Acoustic neuroma symptoms nhs there are 150 other similar lysomal storage diseases such as late onset tay-sachs; research on one will help all.

“parents and physicians have greater constraints on their time,” said rabbi hershy ten, president of the jewish healthcare foundation.Acoustic neuroma symptoms nhs “as a result, issues and concerns are not always adequately discussed. Parents must assume a greater responsibility in their children’s health care, and information and understanding is vital in this role of parenting.”

acoustic neuroma symptoms nhs

The jewish healthcare foundation — avraham moshe bikur cholim is a nonprofit organization that provides subsidized health care services and social assistance to needy families throughout los angeles and california.Acoustic neuroma symptoms nhs some of the philanthropic services provided are medical and diagnostic subsidies, the “bikur cholim house,” health care campaigns, social support and patient advocacy.Acoustic neuroma symptoms nhs one of the many goals of the jewish healthcare foundation — avraham moshe bikur cholim is to expand access to affordable quality health care for individuals and communities.Acoustic neuroma symptoms nhs

acoustic neuroma symptoms nhs