Petition to include TMAU in the Social Security Compassionate Allowance List

January 10, 2012: Living with any disease can be a trial, but patients with rare conditions face a host of uniquely difficult challenges. Simply getting an accurate diagnosis can be an enormous task,and many with poorly understood illnesses struggle with isolation and loneliness while attempting to deal with Trimethylaminuria (TMAU).

Written by Cheryl Fields, MBA, Ph.D. (ABD)/c, published over 2 years ago.

Petition to include TMAU in the Social Security Compassionate Allowance List

Typically, a rare disease has such a low prevalence in a population that a physician in a busy general practice would not expect to see more than one case a year. Most rare diseases are genetic, and thus are present throughout the person´s entire life, even if symptoms do not appear immediately. No single cutoff number has been agreed upon for which a disease is considered rare.

Trimethylaminuria (TMAU) is a genetically-mediated disorder, which appears to be inherited in an autosomal, recessive fashion. This was discovered initially by studying sufferers and their families, and more recently, by examining the molecular deficits responsible for TMAU.

The biochemical deficit causing TMAU is the inability to completely metabolize trimethylamine (TMA) to TMA-oxide (TMAO) in the liver. TMAO is a non-volatile (nonodorous) solid that is excreted in urine. The enzymes catalyzing this conversion are the microsomal, flavin-containing monooxygenase (FMO). The FMO family of enzymes are catalytically diverse and catalyze the oxygenation of a variety of heteroatom-containing (N-, S-, P-) endogenous and xenobiotic compounds.

The principle presenting symptoms of TMAU stem from excess, unmetabolized trimethylamine. TMA is formed in the gut by bacterial metabolism of dietary constituents, principally choline. TMA is a gas at body temperature and has a foul, fishy odor. At very low concentration, it may only be perceived as foul, unpleasant or “garbage-like”. Excessive production of TMA is linked to the intake of a variety of choline rich foods, (such as eggs, certain legumes, fish and organ-meats) hence the sporadic production of symptoms. Because there are many foods that are rich in choline, both patients and their family members are unlikely to relate the odor to food intake.

Symptoms may include foul body odors, halitosis and/or dysguesia, which can produce social embarrassment and can be temporarily relieved by normal hygiene procedures.

Further, the unpleasant symptoms are often sporadic in occurrence and seemingly subjective, and when coupled with a lack of knowledge of the disease and its etiology among health professionals, may lead to diagnosis of poor hygiene, psychiatric problems, and/or referrals to other specialists. The latter has been financially draining many patients.

The socio-psychological problems that confront the patients and their families that finally lead to marginalization and exclusion of patients affected by TMAU.

Some psychosocial areas of concern for TMAU patients are:

  • feeling good about yourself
  • feeling comfortable around other people
  • controlling tension and anxiety
  • maintaining a positive outlook
  • thankful for simple things
  • being able to meet goals
  • respect and appreciate nature

In relation with psychosocial health, it is necessary to have special bonds with people and social support from others.  The social isolation that many TMAU patients experience cannot be stressed enough in this article. Solitude is okay for short period of time.

Solitude becomes isolation when:

  • We avoid people for an extended period (more than a day or two)
  • We avoid people out of fear or depression
  • We avoid people out of fear of being abandoned, or out of a sense of shame or low self-worth
  • We avoid people to the detriment of our important social or professional relationships
  • We don’t feel better by spending time alone, or if we do, it is only that our anxiety about being around people is quelled

There are a range of patients with TMAU, a very small number are able to work andmaintain a decent living; while a larger group of patients with TMAU are often homeless, penniless, and/or destitute. The second group of TMAU patients often file for Social Security Administration (SSA) benefits, only to be denied disability benefits; because TMAU is not considered a disabling condition by the SSA.

The SSA and the medical community have to become more educated on rare diseases, TMAU, and/or similarly situated rare medical disorders.

Specifically the following need to be educated about TMAU, in order to make an educated and intelligent decision regarding SSA benefits for the TMAU patients that may apply: licensed physicians (medical or osteopathic doctors); licensed or certified psychologists including school psychologists (and other licensed or certified individuals with other titles who perform the same function as school psychologists in a school setting) only for purposes of establishing mental retardation, learning disabilities, and borderline intellectual functioning; licensed optometrists only for purposes of establishing visual disorders (except in the U.S. Virgin Islands where licensed optometrists are acceptable medical sources only for the measurement of visual acuity and visual fields); licensed podiatrists only for purposes of establishing impairments of the foot, or foot and the ankle, depending on whether the State in which the podiatrist practices permits the practice of podiatry on the foot only, or the foot and the ankle, etc.

Until the SSA, medical community, and other similarly situated health care providers are empathic, understanding, and sensitive to the needs of those with rare medical/metabolic disorders, the rare disease community shall continue to have very few opportunities for SSA disability benefits, medical research, and in-depth understanding from medical professionals.

REFERENCES:

http://www.hbri.org/TMAuria.htm

For more see the Document: A Legal Perspective on Employment Protections

Written by Cheryl Fields, MBA, Ph.D. (ABD)/c, published over 2 years ago.

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