Life with FSH Muscular Dystrophy
Although it is an inheritable disease, studies suggest between 10%- 33% of FSH cases are sporadic, meaning that the DNA mutation was not received from a FSH parent. In all cases of offspring from a FSH parent, there is a fifty percent chance of inheriting the DNA mutation. There is also a fifty percent chance increase to a sibling if a parent is FSH affected.
This muscle disease strikes persons within all races, and there is no gender partiality. One in twenty thousand is the accepted rate of occurrence within the general population. More than 90% of affected individuals demonstrate findings by age 20. In contrast however, FSH affects some individuals at birth, while others remain asymptomatic through life. There also seems to be a notable degree of variability in the progression of the disease within a kindred group.
A common early sign of FSH in a child, is sleeping with eyes open. Such an event might provoke remarks from parents to friends, but seldom is it seriously brought to a doctor’s attention. Other little idiosyncrasies include the inability to puff out cheeks and pucker up properly, yet this in itself is variable in degree. Although FSH is a part of a person from day one of life, these signs are not conducive to early FSH detection.
More FSH distinguishing signs occurs with the progression of the disease, usually in the second decade. Word pronunciations may be difficult. A lopsided smile can’t be corrected. Eyes cannot resist being opened by prying hands. Kissing a romantic counterpart awkwardly. In difficult teenage years where every imperfection is a horror, the signs are known, but misunderstood, by the affected individual.
The scapular winging that occurs prevents normal movement of the body, which causes some fuss with teenagers and the leaders of their chosen physical activities. Correct posturing may not be able to be achieved due to muscle weaknesses, or there may be required exercises that the affected person is simply not capable of.
Sport leaders might or might not have a medical back ground. Depending on the coach, ignoring the problem and the bad effects or advice to seek a doctor’s opinion will be done. Sometimes the coaches, unaware of the underlying cause, can form a faulty character opinion and give an unwarranted punishment for bad performance.
After a diagnosis has been made, the young adult can receive counseling to deal with the public and private effects of FSH during everyday life. Medically, there is no cure or treatment for the FSH disease. Symptom management and living adjustments will continue throughout life as the DNA mutation makes waste of various affected muscles.
The third decade is the years that the general population focuses on career and family. For a person that is suffering progressive muscle waste, it is a time of frustration and confusion. Career options can be limited due to physical shortcomings however, intelligence is not diminishing. Therefore, chances of receiving a well paid job is not bad.
The inability to function normally within sexual situations adds to the self- consciousness and self doubt of worthiness. Personal relationships suffer needlessly when these emotional factors trigger a lack of sexual appetite. The patient, the partner, and medical staff, with an open and honest discussion, can head off these problems before they turn into severe complications.
Many couples, in which one is FSH affected, bear in mind the genetic factor when deciding on if and when to have a child. The best time to discuss genetic risks is prior to pregnancy. Genetic testing and modern medical procedures gives couples the option to birth a child that is not FSH affected. In a FSH pregnancy, provided testing is done very early on, termination is possible.
This situation, maybe more than any other with FSH, is an ethical dilemma that must be crossed by the couple together. Whatever the final decisions are on this personal matter, counselors and the medical community is there to help FSH affected couples to follow through with their procreation choice.
FSH works through the lifetime, and in twenty percent of cases results in the use of a wheelchair. Other affects are hearing and vision complications, unbalanced (side to side) weaknesses. Exposure keratitis is a minor concern with simple solution. Life span is normal, except in rare cases where the heart and smooth muscles are affected also.
Disorders like limb girdle dystrophies and scapuloperoneal muscular dystrophies are easily misdiagnosed due to the similar distribution of weakness. Other disorders are similar, but easily differentiated by histopathology.
Treatment of symptom manifestations comes in a variety of ways. The most invasive of these options is the surgical fixation of the scapula to the chest wall. Evaluation of the patient beforehand is warranted to promise a functional and long lasting benefit. Individuals with a rapid rate of progression would only receive a short-lived benefit, therefore the outcome does not agree with the means.
FSH is a significant part of everyday life for the majority of affected adults. Ethical beliefs plays its part, and so does the emotional turmoil that is suffered, in the attempts by a FSH person to keep control over all aspects their life and their disease. Perhaps one day, researchers will give rise to a cure. But until that day comes, patients should be open in discussing things with a counselor. Ignoring the problem is impossible. Living with it is not.
