Does DNA or Genetic Sequencing Contribute to a Multiple Sclerosis Diagnosis

I have been diagnosed with MS long enough now to have delved into the science of DNA or genetic sequencing a few times over the years. In my own unsophisticated way, I have often given thought to what role my DNA has played in my MS diagnosis. If you are the only one in your family diagnosed with MS - as I am, have you ever wondered how much your family tree played in your MS diagnosis? Is my diagnosis a result of faulty DNA or chromosomes? These are some of the questions I have often pondered.

Just for the sake of the argument, let’s say I truly am a victim of my inherited DNA and have some ancient mother’s - cousin’s - grandmother’s make-up that would explain my peculiar medical history. Am I then a fluke, a one in a million long-shot, who at the exact time of conception received only those strands of DNA that predestined me to my specific medical issues? If my DNA were dissected or unraveled and sequenced, would the findings show obvious MS chromosomal damage or at least some type of protein abnormality peculiar to MS, or would it reveal a familial link?

Here’s what I know

· No one in my family has MS, but me.

· Out of us three girls, I alone have high-blood pressure, diabetes, and high cholesterol.

May I also add that all three of us sisters are over forty years of age which is, according to my doctor, the age for inherited familial illnesses to poke their heads above the covers and be seen by the unsuspecting. Yet, I alone am the one whose familial clock went off and set my other three “conditions” in motion. I am not the oldest and I am not the youngest, I am smack dab in the middle. Oh and my mother also shared my medical conditions, minus the MS.

· When it comes to physical features I am the hairiest of my immediate family. Where does one inherit the “hairy” gene? I’m dying for the answer to that question. Is it the same gene responsible for my MS?

· I am the tallest of the immediate family. My sisters are both 5’6, 5’7, before I started shrinking I was 5’81/2, now I am just 5’8 even. Just an observation, doubt it plays any role in coming down with MS, but who can say for sure?

· I DON’T have gray hair which in retrospect isn’t a complaint, just another strange occurrence because all the women in my family began turning gray in their early 40’s. Why am I different? Is it in some way connected to why I am the only one to contract MS?

I think I must have received my genes from my mom’s side of the family, since I was told I favor my maternal grandmother most. I suppose that means my two sisters inherited their basic DNA make-up from my dad’s side of the family. That’s not the best of news for me because my mom’s family doesn’t have the longevity that my dad’s family possesses, but I digress. Going back to that pesky MS diagnosis, to my knowledge no one on my grandmother’s side had anything that resembled MS. So is heredity and a faulty chromosome or two from her gene pool really to blame, or does the answer lie elsewhere?

Viral Component

If MS is due to some sort of virus, as is currently believed, why was I the only one exposed to the contaminant? We all ate the same food, drank the same water, played in the same outdoors and shared the same germs.

I suppose if my faulty chromosomes gave me a predisposition to MS, and if I came in contact with a virus that tripped the switch, I could end up where I am today. I would also have to suppose that my faulty chromosomes were a one-time only happening, since my sisters have no autoimmune disorders in their medical histories.

Toxic Metal Contamination (Iron)

Currently, the MS world is all a-buzz with the latest theory about a cure for MS.  It is based on the work of a doctor in Italy and is currently being gone over with a fine-toothed comb by the part of the medical establishment which specializes in treating and finding cures for MS. 

The problem referred to as CCSVI (Chronic Cerebro-Spinal Venous Insufficiency) hypothesizes that excessive iron build up causes MS. I have linked the page that proved easiest for me to read and understand. 

It totally makes sense to me, but time will tell if it holds up to scientific scrutiny. 

If it proves to have merit, I predict a flood of MS patients asking for the procedure that opens up the blockage which develops when a blood vessel thought to cause the iron and immune cells to cross the blood-brain barrier is unblocked.

 In theory, the leakage of iron and immune cells is what causes the myelin sheath to be damaged, because the leakage triggers the MS attacks. Once the damaged vessels are unblocked the iron leak is prevented and the body no longer attacks itself. If my understanding is correct.  

As the linked article mentions, the doctor had success in treating his own wife and has since treated 65 others with 73 percent remaining free of MS symptoms after 2 years. 

As terrified as I am of any type of medical procedure, I will gladly get in line to have this fix done to me, if it holds up to medical scrutiny.

Of course I would still wonder why I am the only one in the family with the faulty vessels and or arteries?

Is My Race a Determining Factor

The fact that I am African-American has some interesting statistics about what type of problems I can expect. Mostly that walking problems and wheelchair use would be greater with relapsing/remitting patients who are African-American.

I can’t say that I wholeheartedly embrace the theories, since it has taken me 15 years to begin experiencing walking issues.  According to statistics, my problems should have occurred much earlier on in my disease progression, based on race.

The racial statistics have no bearing on my family history either. The question of why I am the only one with MS remains unanswered.

Who I Want to Be

I have thought about it and I am sure I would like the answer to be connected with the excessive iron levels connected with CCSVI. Just imagine, MS could be cured not just treated. All we would need is to unclog a clogged vessel, which is a relatively safe procedure and viola no more MS.

While it might not provide the answer to why no one else in my family has MS, nor would it do anything about my bizarre hairiness, I could live with those unknowns if it meant being free of MS. This of course is who I would like to be – a person who is MS-free.

Self-Indulgent Rant

Obviously this is just one giant suppositional rant. Like it or not,  I’m a 5’8, 49 year old woman, with too much hair of which only a few strands are graying. Who has a whole bunch of MS in conjunction with other medical conditions, who is hoping CCSVI will provide a cure for MS.

I suppose when you get right down to it, I didn’t need 1,000 plus words to say what I just so neatly summed up in three sentences, but then I would not have gotten the chance to rant about being the only one in my family with this disease, and that wouldn’t have been as fun or as freeing.

Every once in a while it just feels good to whine and complain, get it out of your system, exhale and admit, “it sure felt good to get that out!”