Mom's Story

A discussion about Mom's Story and MS…

Archive for the tag “women”

27 Jan 2017
2 Comments

Study Finds That Some Family Members of People with MS Show Possible Early Signs of the Disease without Symptoms

Summary

  • As part of a large-scale “Genes & Environment in MS” (GEMS) study to understand factors that lead to the development of multiple sclerosis, researchers analyzed the genes and backgrounds of individuals who had no symptoms of MS, but who had close family members with MS.
  • Based on that analysis, researchers identified a group of 40 women at higher risk for developing MS, and 25 women at lower risk. Extensive neurological testing and MRI scanning uncovered possible neurological abnormalities in the higher risk group, and MRI abnormalities in a small proportion of both groups.
  • “At this time, we are developing strategies to manage the risk of MS, but there is, as yet, no specific recommendation,” explains co-author Dr. Phillip De Jager. “Family members should be reassured that the vast majority of family members will not develop MS.”
  • The team (including Zongqi Xia, MD, PhD, of Brigham and Women’s Hospital, and Daniel S. Reich, MD, PhD, of National Institute of Neurological Disorders and Stroke, Bethesda, MD) has published results in JAMA Neurology (published online January 17, 2017).
  • This study was supported by the National MS Society and the National Institutes of Health, and the Society helped to recruit participants. Two of the study authors – Daniel S. Reich, MD, PhD, and Philip L. De Jager, MD, PhD – are winners of the prestigious Barancik Prize for Innovation in MS Research.

Background: An individual’s risk of developing MS increases if a close family member has MS. There is currently no way to predict which family members will develop MS. The goal of the Genes & Environment in MS (GEMS) study is to identify the genetic, environmental and immune profiles that may increase a person’s risk of developing MS.  Researchers are recruiting 5,000 subjects who have at least one first-degree relative with a diagnosis of MS. The GEMS Study is gathering genetic material (DNA) and environmental exposure history from participants as well as blood samples and brain magnetic resonance imaging (MRI) as an option. Investigators are classifying participants using the Genetic and Environmental Risk Score for MS Susceptibility (GERSMS), an experimental approach which incorporates genetic information and environmental exposures to identify people at higher or lower risk of developing MS.

The Study: As part of this large-scale, ongoing study, researchers looked at 65 women who are first-degree relatives of people with MS. The GERSMS indicated that 40 of these women were at higher risk of developing MS, and 25 women were at lower risk of developing MS. These women underwent a comprehensive neurologic examination and MRI scans.

Women in the higher risk group had less than normal vibration sensitivity in their big toes, a finding that indicates potential nerve dysfunction. A small percentage of the women in both groups had more MRI abnormalities associated with MS than one would expect to find in the general population.

The team (Zongqi Xia, MD, PhD, of Brigham and Women’s Hospital, Boston, MA, and Daniel S. Reich, MD, PhD, of National Institute of Neurological Disorders and Stroke, Bethesda, MD) has published results in JAMA Neurology (published online January 17, 2017).

This study was supported by the National MS Society and the National Institutes of Health, and the Society helped to recruit participants. Two of the study authors – Daniel S. Reich, MD, PhD, and Philip L. De Jager, MD, PhD – are winners of the prestigious Barancik Prize for Innovation in MS Research.

Next Steps:  In this study, women at high risk for MS showed possible early manifestations of the disease. “The goal of the Genes & Environment Study is to understand the sequence of events that leads someone to develop MS,” explains co-author Dr. De Jager. “At this time, we are developing strategies to manage the risk of MS, but there is, as yet, no specific recommendation. Family members should be reassured that the vast majority of family members will not develop MS.” He notes that the study did not test the possibility of preventive strategies, such as vitamin D supplementation.  “Taking vitamin D is good for bone health, and MS family members should discuss taking such supplements with their physician.”

Read more about research to find the genetic and environmental underpinnings of MS

 

Posted in multiple sclerosis, National Multiple Sclerosis Society, Uncategorized and tagged , , , , , , , , , , ,
01 May 2016

Multiple Sclerosis in Russia

From the Russian Multiple Sclerosis Society (http://www.armss.ru/)

Multiple Sclerosis (MS) is a severe chronic disease of the brain and spinal cord, which affects relatively young people and oftentimes results in disabilities. Over recent years, MS has tended to rapidly grow in frequency with onset among younger patients. This was caused by not only better diagnostic facilities for MS but also improvement of the quality of epidemiological research, yet the actual growth of the disease is also a reason. Currently, there are over 150,000 patients in Russia, of whom no less than 75% are already disabled. While including the families of patients and disabled people, MS as a problem involves from 750,000 to 1 million Russian citizens.  At present, there are about 3 million people with MS in the world. The MS frequency in Russia is from 30 to 100 per 100,000 of general population.

In Russia,

70%    families break up after one of the spouses is diagnosed

29%    patients have not left their homes for over a year

78%   patients are females under 50

75%    patients have disabilities

35%    are young people under 28

6%     are children aged 10-15

Medical and social support for PwMS is a challenging and complex task, which cannot be resolved otherwise but in close cooperation between civil institutions, as well as expert and public ones. Since the course of the disease is unpredictable with the end deemed practically inevitable, while diagnostic facilities were untimely and pathogenic therapies were highly expensive and disabilities growing, some time ago patients with MS would not often get an adequate medical and social treatment as they were regarded as having no prospects. With introducing a range of medicines in the 90s of the 20th century to modify the course of multiple sclerosis (or, disease modifying drugs – DMDs), then, new medical and rehabilitation techniques, patients got a hope for the pathological process development to slow down, to prolong physical activity and working ability and quality of life.

However, MS requires overall significant resources employed being financial, organizational, scientific-methodic, social. In the 90s of the last century, the problem remained little-known and was considered by professionals as a specific scientific-medical one. For a long time, authorities and professional and general communities underestimated its high social significance and the necessity to concentrate on considerable efforts to fight it.

Nurse assistance services have been set up in 55 regions that carry out target medical maintenance of patients receiving highly expensive medicinal therapy. Nurses render consulting medical and social assistance to people with MS.

The crowning achievement of the ARMSS is that it has managed to translate, in the general public mind, MS as a problem from the ‘scientific and medical’ category into the ‘social and economic’ one, as well as to improve the quality of rendering medical assistance to Russians suffering from MS.  The most outstanding result of this understanding became the guaranteed provision of highly expensive medicines (DMDs) for patients with MS at the expense of federal and regional budgets, which had been unthinkable of in the early 2000s.

The improvement of quality of life of people with MS is a result of combined activities of structures of civil society and authorities.

(after:  Patient voluntary organizations’ role in improving the quality of rendering social and medical assistance to communities. by Yan V. Vlasov – MD, Mikhail Al. Kurapov, Mikhail V. Churakov – PhD)

Posted in multiple sclerosis, Uncategorized and tagged , , , , , , , , , | Leave a comment

Post Navigation