The problem is due to a person’s genetic make-up. Huntington’s disease (HD) is an autosomal dominant illness, meaning that only one copy of the abnormal gene is enough to cause it and an affected parent has a 50% chance of passing it to their child. A faulty gene (due to an original mutation) on the short arm of chromosome 4 is the cause of HD. The gene codes for the production of the huntingtin protein, HTT. HD is a tri-nucleotide repeat disorder, cytosine-adenine-guanine (CAG) repeats more than the normal range. According to the genetic code, CAG codes for the amino acid glutamine. Usually, a person who has fewer than 36 CAG repeats produces the normal huntingtin protein, while a person with over 36 CAG repeats produces mutant HTT. This mutant HTT, through a mechanism not clearly understood, increases the decay of medium spiny neurons, the latter representing approximately 90% of the neurons within the striatum of the basal ganglia (other areas like the substantia nigra and layers 3, 5, and 6 of the cerebral cortex are affected as well). This, as you know, plays a crucial role in the movement of body, limbs and even eyes. The repeat of CAG is directly proportional to the age of onset and rate of progression. A person with a high number of repeats will experience HD sooner and go through progression to the terminal phase more rapidly than a person with say, 39 CAG repeats.

In 1968, Alice and Nancy—Leonore Wexler’s daughters— were informed by their father, Milton Wexler about their mother’s illness and that they, too, had a 50-50 chance of succumbing to the ravaging disease. Milton set up the Hereditary Disease Foundation (HDF) to raise money and press the government for funding HD research. In the 1970’s Nancy Wexler molded herself as a geneticist and, like Optimus Prime taking on the decepticons, she took it upon herself to take on Huntington’s. In Watson’s book, he points out that Lake Maracaibo, Venezuela is a hotspot for HD, as there is a high incidence of the illness there, and the population is isolated. Back then, HD was not known beyond its symptoms, the hunt for the gene responsible for the disease was on. Nancy became one with the people of Lake Maracaibo since 1979. If you want, you can read about her team’s progress and triumph with the use of RFLP linkage; with the help of 150 scientists around the world, the gene was isolated in 1993. The technological advancement required to home in on the faulty gene was very important, it set up the stage for the human genome project.

Though we know the gene responsible for the disease, we are still a long way from a cure. Treatment is not available; we only have medicine which “alleviates” some of the symptoms. The illness is found in 1 of 20,000 persons of European descent, and in America, it is estimated that 1 in 10,000 people have HD. The symptoms typically begin when a person is between 30–50 years of age and progresses over a 10–25 year period. This is a scary aspect; one can lead a normal life and have children, only to find you are doomed to die relatively young and that you have likely condemned your children to the same fate. The earliest symptoms of HD are uncontrollable muscle movements, clumsiness, mood changes, and memory lapses. Later, difficulty in walking, talking, and of course, death. HD does not cause death directly but rather leaves the body compromised with complications and susceptible to things such as pneumonia and heart attack. High suicide rate is also not uncommon for this disease. The only answer I can think of to cure this disease is nanotechnology- nanobots checking DNA strands in cells, base by base, and cleaving the extra CAG repetitions in an HD patient’s chromosome 4. Unfortunately, that is well into the future. I have read that gene silencing may be more practical right now, silencing the mutant HTT, thus, thwarting the protein from gluing molecules in the brain and killing the medium spiny neurons. Finally, Stem cell therapy may also be a revolutionary way to counteract the illness by transplanting stem cells into affected regions of the brain, replenishing the lost neurons. Sadly, none of these options are easy things to do yet.

Following up on this story, events have unfolded which prompted me to keep writing about this new journey my father is now undertaking. As I previously wrote, despite a strong cocktail of antihypertensive medications, my dad’s blood pressure is always high. Dr. Mohammed Haque’s nurse practitioner had told us to suspend Diovan and Tekturna, and to take Benicar HCT. They scheduled us to go back Friday, but called me early Friday morning beckoning to go back on Tuesday, after Memorial Day. Linda Knighten and I chatted for a couple of minutes. She told me that the Tamiflu was not necessary, as my dad tested negative for A H1N1. His bloodwork was completed and she told me that his cholesterol level was very high, and his potassium level was very low. She instructed us to pick up prescription orders for Lipitor (for the high cholesterol) and K-Dur 20 MEQ (to raise his potassium level). “Just take these meds, and we will go from there on Tuesday,” she said.

After much thinking and mauling it over in my head, I told my dad not to take the Benicar HCT or to suspend the Diovan and Tekturna, I did not want someone to bypass his cardiologist whom he had been with for over two decades. Tuesday morning, due to work, it was my sister who took him to see Dr.  Haque, meaning I have yet to meet him. While at work, I received a call from my dad. He seemed kind of down and he told me that he was diagnosed with diabetes type II. So, on top of congestive heart failure, gout, and other recurring ailments, he now had diabetes. They prescribed Meformin, an oral anti-diabetic drug of the biguanide class.

This Wednesday, I took my dad to his cardiologist appointment. His cardiologist has a brand new office on the sixth floor of Memorial-Hermann at Memorial City on I-10. In the last couple of years, this medical branch at the aforementioned location has been throwing up new buildings and getting a completely new make-over. Almost everything is new and fancy, which I like. Dr. El Hafi, the cardiologist, has a huge office. He and two other physicians, his associates, check their patients there. The waiting room smelled new, and had about 30 classy looking chairs facing a wall with a large LCD TV. The wooden floor was all glossy, and I could not help but think, gosh, wish I could have a place like this one day.

My Dad checked in and we sat in the waiting room watching Mike Tyson’s tragedy on TV. I felt bad for Mike Tyson’s daughter. A couple of minutes later, we were led inside, and after weighing my dad, we were lead into a room. The nurse was young, maybe 28, and kind of cute, she looked Hispanic but did not speak Spanish… a lot of dilluted Hispanics these days. I brought her up to speed about the diabetes and the new medications he was taking. She took his blood pressure, and said it was good, 139 over 95. I told her it was luck, as it had been in the 160-180 for the systolic range. She finished writing all the information and told us the doctor will be with us soon as she stepped out.

When the doctor came in, I quickly sat up-right and greeted him. He looked older from when I last saw him, and he seemed more bald, too. That is the bad thing about being a physician, you lose your hair.

He told my dad not to take Benicar HCT, that the HCT was previously tried on him and did not work. Moreover, he said that he was already maxed out on the dosages for all the antihypertensives, but to keep taking them. He was going to add more medication, Lasix, a loop diuretic and he wanted to see him in three weeks. In the days that followed, I bought my dad a machine to check his blood pressure, and Dr. Haque gave him a blood glucose monitoring system. I help both my parents check their blood-glucose levels. Interestingly, my glucose levels seem high, at around 99 mg/dL. My blood pressure is also in pre-hypertension to hypertension 1. Gosh, I do not like the inheritance my parents are going to pass down to me…

Today, I had quite a busy day. My father had a doctor’s appointment with a new physician that was referred by his primary care physician. To tell you the truth, I really do not like his PCP. She is lazy, slow, her team is incompetent, and she gives you the vibe that she is just interested in making money. Whenever either of my parents need blood work, her nurse can never seem to find the appropriate vein to withdraw blood. Thus, she sends us to another off-site facility to have a true specialist withdraw blood samples. Dr. Wali’s office is never kind enough to give us a call in the days that follow to inform us that everything is well from the blood work, x-rays, MRIs, etc. We are the ones that need to call the doctor’s office to ask if the studies came out well. Come to think of it, as I am writing, I am asking myself why I have not helped my parents find a better primary doctor.

                Both my parents have long lists of illnesses that require frequent trips to all kinds of physicians. My mother is a breast cancer survivor and I am forever grateful at the work of oncologist, Philip Cimo, and surgeon, Dimitrios Boulafendis, great physicians that saved mommy’s life here in Houston. On the other hand, my dad suffers from congestive heart failure, this being from ischemic heart disease and angina pectoris. My dad has battled with hypertension over half of his life; his cardiologist of over 20 years has never been able to successfully bring his blood pressure down. Dr. El Hafi, Salah E. has nonetheless, saved my father’s life on more than one occasion. He has done six cardiac catheterizations to perform angioplasty, widening blood vessels in the heart that had become clogged or obstructed due to atherosclerosis. I, personally, have much faith in this cardiologist, his whole team is top notches.

           I accompanied my dad to this new physician early in the morning. He had been complaining of cough, flu-like symptoms, and frequency of urination (he currently gets up about 5-7 times to urinate at night). I helped him fill out the new patient forms. As I was filling them out, I saw that some of the forms were copies of copies of copies and they looked very unprofessional. I quickly filled out his illnesses, the reason (s) for his visit and the meds he was on: Clonidine .2 Mg (alpha 2 adrenergic agonist), Diovan 320 Mg (angiotensin II receptor blocker), Norvasc 10 Mg (calcium channel blocker), Tekturna 300 Mg (renin inhibitor), Plavix 75 Mg (antiplatelet agent for his two heart stents). The way these meds work, we actually covered in Dr. Brenda Whaley’s Drug Action class at HBU, a fun and interesting class… not to mention easy. The waiting area was empty, so they allowed us in fairly quickly.

            Inside, they informed us that the doctor was not present but that his nurse practitioner would gladly attend us. As usual, one nurse first weighed my father; he was within the 173 lbs I was accustomed to see.  The same nurse also took his blood pressure and said it was very high (as usual). We were then led to a small room and my father sat in the inspection chair while I sat on a stool. About 5 minutes later, a young African woman comes into the room wearing a surgical mask! With the entire buzz going around about A H1N1, they were taking special precautions. She introduced herself as Linda Knighten, a certified Family Nurse Practitioner. I took a liking to her because she seemed to actually care about my father’s symptoms. She also gave off a vibe of being extremely intelligent; I picked it up on my “intelli-radar” as soon as she stepped in the room. She took my dad’s plastic bag, and began inspecting all the medication and writing it down on her report sheet. Her biggest concern was my father’s high blood pressure, 184/120.

            “His blood pressure is always high, it has been for decades,” I tried to explain.

            “But he is not supposed to have it this high, not if he is taking all these strong medications,” she said. “They aren’t helping. They don’t seem to work then.”

            My father told me that he had only taken two of the meds, Norvasc and Diovan, that he would take the rest throughout the day, this info I passed on to the nurse practitioner.

            “Okay. The Clonidine, he needs to take three times a day. I want him to take one at 9 am, one at 2 pm, and another at 9 pm. Also, suspend the Tekturna and the Diovan, since they are not helping at all. I will give him a fluid pill, Benicar HCT, part diuretic, to take instead and write him a prescription,” she said.

            “Well… his cardiologist just recently put him on Tekturna two weeks ago, and wanted to see how it worked by checking him on the 27^th of this month, is it ok to just stop taking it?”

            “Oh. His cardiologist is trying it on him?” she asked. She seemed to pause and rethink her thoughts. “I will tell you what, tell your father to stop taking it for a couple of days and I want to see him this Friday afternoon.”

                “Ok, that sounds good. We can make it here on Friday,” I replied.

                She then said, “As for the other reasons for his visit, I will collect a cotton swab from his nose to check for the flu. As you can see, I am wearing a face mask for precaution. Also, the other nurse will withdraw blood from him to do blood work and check how he is doing. We can check his prostate after we get the blood pressure under control; afterwards, I can put him on a medication that will help him get rid of fluids during the day, so he can rest at night.”

                We were led out of the room and sure enough, they asked for a urine sample and they withdrew blood on the spot. I was impressed. The nurse practitioner told us she would call our pharmacy and order the Benicar HCT. In the meantime she gave us some samples. The laboratory that made the medication was Daiichi Sankyo in Japan, I read the label. For some reason I trust medication made in the UK, Germany, France, USA, and Japan the most! Moreover, the young nurse told us that she would also order a prescription of Tamiflu just to be safe. She wrote down the number of our Walgreens pharmacy and promised to place an order to be picked up. I was really pleased with the service we received, but it could have been due to them not being busy, also I still did not like the fact that the doctor was not there. As we headed for the parking lot, I started thinking if bypassing my father’s cardiologist was the way to go. Smart as she seemed, would it be wise to change my dad’s antihypertensive meds to what she suggested?

The other day during lunchtime, my brother and I stopped for seafood at Captain Benny’s on Highway 290. We usually stop once or twice a week and know the three bartenders: Alex, John, and Dallas well. I like the place because it feels you are inside a boat and the food is pretty good. My brother and I sat down and I ordered a Corona michelada, my brother a plain Corona, no mug. The place is usually filled up with people. Many of them are regulars and you nod to them or say hello, they do the same in return. I ordered a dozen of raw oysters. When the order came, I placed my Blackberry to the side and started putting salt on them, lemon juice, and hot sauce (the way I like them).

While I was thus eating, an elderly man came and sat about 4 people away from me; since the bar is in a “U” shape, I could see him well. I would say the Caucasian man was in his 80s. He was old and wore glasses, and his hair was mostly white with some bald spots. I had seen the man several times before, but had never had a real conversation with him. I find it really difficult to start conversations sometimes. Something moved me when I saw the old man, a man who had seen too many winters and too many summers. He looked so fragile and gave an aura of being a nice man. I don’t know about you but I can tell right away when someone is genuinely nice. Time takes it toll on the human body with the passing of years, and leaves but a withered shell of what you used to be. The eyes of that senior citizen were filled with compassion and resignation. I nodded at him, he nodded back. He ordered his food and drink with some difficulty and in a couple of minutes started eating as well. I started eating a small gumbo after the oysters; when the old man started eating, it was at that precise moment that I saw that he had tremors in his hands. My heart sank.

I was sure it was Parkinson’s disease, without a doubt. Parkinson’s is a progressive neurodegenerative disease of the central nervous system (CNS) that most noticeably impairs motor skills and speech. I could see the elderly man had very slow body movement, or bradykinesia. He also moved in “bloc”, meaning he would turn his whole body instead of just his neck. His hands kept shaking, not too wildly, but enough for anyone to see. Most were oblivious. I remembered that in Dr. Hopp’s Neuroscience class, Natasha, Jeannie and I did a presentation on Parkinson’s disease. We all contributed a piece of research. We never met to discuss anything and learned everything last minute, same day the presentation was due. I was surprised that we received a perfect grade. Parkinson’s is an idiopathic disease, which is a fancy way of saying that we do not know its cause. Head blows, genetic mutations, and drugs could cause it, but that is not the case in the majority of cases. In the majority of cases we just do not know the cause. What we do know is that main symptom of Parkinson’s is due to not enough dopamine produced by dopaminergic  neurons of the brain which would allow the basal ganglia to adequately stimulate the [M1]primary motor cortex. The loss of dopaminergic neurons in the pars compacta of the substantia nigra (a structure in the midbrain) means loss of the dopamine neurotransmitter. Dopaminergic neurons project to the striatum, the “central station” of the basal ganglia, which consists of the putamen and caudate nucleus. The absence of said neurons projecting to the striatum leads to a modified and less effective neural circuit inside the basal ganglia which control movement. From having “freeways” in the basal ganglia, you now have “one-way backroads”. This indirect pathway results in hypokinesia and thus, bradykinesia (slow body movement) and rigidity.

I felt bad for the old man. I am no doctor, I don’t know how to fix such things. I wish I could. My brother paid for our meals and we headed out. As I passed the old man, I touched his shoulder and said, “good to see you, you have a great day, now.” I probably sounded all stupid, but I just wanted to wish him well. He did reply his thanks. In this world, the people we have to protect most are:

1. Children

2. The elderly

Why? Because they are very vulnerable.