I’m not an expert,neither a Doctor nor a Health practitioner who specializes in this condition but I happened to work with somebody who suffers from it and befriended a lady that really affects my views on people with such genetic disease.
My friend may looked very young at her age,though you can see some aged features of her physique due to the lifestyle she chose and her disorder as well.She smokes a lot actually and she is also anorexic. I always try my best to convince her to eat more but to no avail. She sometimes wake up early in the morning or very late until mr. sunshine exposed all his glory in the vastness of the sky.She dressed herself well and speaks modestly which makes her as if matured sometimes and childish some other times.She was 46 when I came to know her and we almost celebrated our birthdays together for nearly five years until I got a job farther from the hostel where she is living.We’re both on the zodiac sign of Virgo,born in different years but a day after the other that’s why maybe we right away felt chemistry with each other.Or maybe because I just knew how to relate to her even if I am more than a decade younger.Her genetic disease somehow didn’t stop her to enjoy life.She is going on trips around the country with a group as much as she can and she is also working.You may not know, that some of the rags you’re buying in supermarkets,or the utensils you use in your flights were packed by them.It’s really gratifying to see those mentally and physically challenged persons, due to such hereditary disease, working as normal citizens instead of being discriminated.
You need to always share an ear listening to her “litanies” so as not to hurt her feelings.It’s somewhat hard to catch up with her because of the speech blurriness which is one manifestation of the disorder,so you need a heapful of patience to understand her all through out,else she will be mad at you.She keeps repeating her stories but never mind,just show your interest anyway.At times,she spills her glass of coffee or water involuntarily though she will feel so sorry afterwards.She even chew her food grinding her teeth with an open mouth.You just have to assimilate yourself into the situation.It’s not her intention at all.She can even break a lot of chinawares,spill food on the floor and step on it without being aware of the grime.It’s all because she has myotonic dystrophy,a disease that she doesn’t have any control on the impact to her mind and body.
This lady is actually the daughter of a woman who endured from the disorder and a granddaughter of a man who also had it.She was born manifesting majority of the syndrome’s symptoms while her mother later experienced the severity of muscle weakness and wasting in her 70s until she died due to other associated diseases although she was born with it.Researchers have determined that the disorder is the most common form of adult onset muscular dystrophy.
Myotonic dystrophy(DM-dystrophia myotonica) affects atleast 1 in 8,000 people in the general population,though the prevalence vary in different countries and ethnic groups.It is one of the most variable and complicated disorders known.It is a long term disorder that affects mainly the muscle functions of the body and is also one of the several known trinucleotide repeat disorders, in which certain areas of DNA have repeated sequences of three or four nucleotides.The symptoms include the gradual loss of muscles and weakness.Every person is unique and how this disorder affect each can be very different.
There are two subdivisions of DM(source-NAtional Organization for rare disorders). DM type 1 which is further classified as mild,classic and congenital.Mild DM 1 is characterized by cataracts and myotonia,in which the muscles do not relax after use.Classic DM 1 is characterized by muscle weakness and wasting(atrophy),myotonia,early- onset cataracts(i.e before the age of 50),and abnormalities in the heart’s conduction of electrical impulses.Congenital DM 1 is characterized by hypotonia,difficulty breathing,intellectual disability and early death.Whereas DM type 2 causes symptoms similar to DM type 1,but is generally a less severe disorder and does not cause congenital.DM1 is caused by an alteration in the DMPK(myotonic dystrophy protein kinase) gene and DM2 in the CNBP(nucleic acid-binding protein) gene,which are inherited in autosomal dominant manner and thus will be passed along 50% of a carrier’s offspring,on average.When a mutation of a gene occurs,the protein product may be faulty,inefficient, or absent.Depending upon the functions of the particular protein.This can affect many organ systems of the body,including the brain.
My friend have had an operation in her eyes at a very young age to help her vision but still she wore thick lensed glasses all the time.Her speech is unclear but learning about her disorder and understanding the situation well,I was able to cope up dealing with her.You just need to show compassion and interest in her daily routines.Although many of her fine and gross motor skills have limited functionalities, she manages to do almost everything by her own with limited assistance for now.She can shower alone,brush her teeth and prepare a simple breakfast of her own.She had worked a lot of jobs and still working at present. It’s the benefit of living in a developed country wherein the government at least acknowledge their presence and needs despite of their limited physical and mental abilities . In fact this times, you can almost see news around the world,people who are mentally and physically challenged merging with the normal standards of living in this modern world.Some are too bright or active and some are passive but they live almost like us.
There is no cure yet for myotonic dystrophy but researchers are studying ways to help these people manage themselves living with the disorder.The current treatment is directed toward specific symptoms that are apparent in each individual .Treatments may include assistive devices and medications that are occasionally helpful.
I did care to a woman who had Myotonic dystrophy but she died because of lung disease due to her lifestyle.She too was a chain smoker.Her body didn’t get along with the medications she acquired since her systems were too weak.The complications of her lung disease invades her body quicker because her muscular disorder makes her systems more vulnerable .There is nothing to do rather than to provide relief from the symptoms,pain,physical and mental stress that comes with it. It’s really sad to witness an individual agonizing and slowly deteriorating due to such diseases but that is always expected in the end.We can’t change nature.
My friend is still enjoying her life despite her disorder and I hope she won’t suffer when time comes that the severity of her situation becomes worse.It’s inevitable but similar to a normal person,they can also live a happy and healthy lifestyle with unwavering love and care from the society who accepts them.
To understand an individual with certain disorders like DM,we need to learn how to live with the context.Be aware of their situations and accept them as they are .They just need to be heard and be given special attention.Besides, it wasn’t their fault to be born with it. We’re luckier and we must be grateful for having normal mind and body functions.
Nothing is better than being openminded.