Geek Talk

This is the second time I am breaking my promise of avoiding geek mode posts. I have realized at some instances this is inevitable. This is one of them and I am just going to accept it. So I have warned everybody from proceeding further at your own risks. Do take the liberty to tune off your eyes and ears.

So to everyone who have prepared to continue, “Welcome and it can get pretty boring, if this was a speech it will be much better as my excitement on the topic might shine through but this is written blog and it is going to be hard to express my enthusiasm. But I will give it my best go as this is what blogging is all about, ‘Making boring topics sound fun, interesting and entertaining.’ This post is not about having arrived at a Eureka moment in my research. I still have a long way to go for that, but fingers crossed that it happens in the next two months (end of my project).  This post is about the motivation and significance of my research. So far I have been monotonously going to the lab conducting experiments, and retuning home disappointed. I understand the biology, the theory of what is happening i.e. the molecular detail but never reflected even once of the lives of the people affected by Huntington’s disease. I was selfishly focused on my experiment and failed to look at the bigger picture. As my supervisor says focus on the phenotype of the disease and then relate it to the cellular level. This I never did. But attending today’s seminar has at least got the ball rolling in my head and initiated the thought process. It has motivated me to try achieving great things even though I am not expected to do anything world changing by my supervisor.

Before I highlight issued addressed in the seminar, I will introduce Huntington’s disease though Wikipedia will do a better job. It is a genetic disease characterized by its motor (involuntary choreatic (dance-like) disorder, mood (depression) disorder and cognitive deficiency. I have read heaps of journal articles on this topic but never had the opportunity to see a HD patient, so the disease never affected me at an emotional level. A HD patient was rumored to be attending the seminar and I was excited to have the chance to lay eyes on a patient. As I said earlier this was a rumor and no patient appeared. The seminar was given by a psychiatric nurse who is in charge of taking care HD patients. 

She introduced her team and then came the more memorable stuff.  She began by presenting a slide of an airplane and described how differently the brains of a HD and Alzheimer’s patients processed this information. Apparently an Alzheimer’s patient would have processed it as something like a giant bird or superman but a HD patient would not respond to it immediately. They know what it is and will take time processing; mining through their filing cabinets of information stored in their brain to arrive at the information that it is an airplane. She went on to say during their home visits and phone check-ups, they would have to wait atleast 15-20 minutes before they can receive a response from the patients as it take them so long to process the information that the phone is ringing or someone is at the door. They lack the ability to multi-task and have to complete a task before commencing the next. Any disturbances while performing a given task can lead to huge conflict in the brains leading to anger and frustration.  So thought process occurs more slowly and they lack the ability to multi-task. They also have very fixed ideas and have difficulty moving from an idea to another. They like routines and everyone around them has to stick to it. A certain patient has the habit of catching a certain ferry at the everyday at the same time to go to the same café and orders the same fish and chips. He cannot afford it nor does his body’s cholesterol levels permit it but he cannot move away from it as he is uncertain of anything new, he has done this and is comfortable with it so will not try anything new but he does have the memory of having repeated the same action therefore allowing him to continue with it. Another lady so fixed on Coronation Street on TV could not move away from it even when there was a fire next door. So the nurse had to pull the TV along with the lady to save her life. A patient described the disease like living like you had an interview to attend every minute of the day. What she meant to say was that the anxiety levels were always high. In an interview you are prepared and in a vague sense you know what kind of questions to expect and how many people are going to interview you but your anxiety level is still too high. But as soon as your interview is over whether you have obtained the job or not your anxiety level drops. This drop never occurs for a HD patient. Another issue mentioned by the nurse was an issue of social isolation. Most of the patients are placed in old age homes as they are too much of a burden to be looked after by their families. In the homes even if they are constantly surrounded by people they are isolated because everybody around them finds them funny or different. They talk funny and have involuntary twitches; they look drugged or drunk always. Therefore they are avoided by everyone. (Now, let’s a short break from the seminar to a re-account of a personal incident. The other day on the bus I saw this man with his head twitching and he looked absolutely drugged. The bus was full and I was praying that this man did not come near me. He didn’t but still I think avoiding is better than inflicting harm on oneself. If that man was diseased I am sorry for avoiding him but if he was drugged ‘Good for me’) A test normally done to test for symptoms of HD includes putting together a building-block house. Many of the patients tend to put the foundation on top of the house and seem to give some of the most fascinating explanations of why it is so but they do realize they are building a house. Recent days this test has been removed as they seem to be blaming it on the earthquakes that have been happening all around the world. This makes you realize that all these people are well educated people who have living fulfilling lives. Many of them are accountants and lawyers. Most of them have had families as the onset of the disease is usually over the age of 40. This being a genetic disease they would have seen their parents have it and soon will see they children affected with the disease. It is really pathetic. Care-givers usually parents, wives or children feel the frustration themselves and go through depression. Divorces after the onset of the disease becomes common as the spouses feel that the person they married no more exits and have been completely taken over by the disease. Another characteristic of the disease is drastic weight-losses the patients undergo, like about 5-6kgs lost in a week. This is mostly due to the choreatic movement found in these patients. Most of them are always hungry (she called them a ‘tip-top head’) and need to be feed high caloric diets every couple of hours (similar to a diet of an Olympic athlete).  And if food is said to be served at 6 O’clock it has to be. Otherwise there will be a huge tantrum in the house. And they find it hard to answer questions like “What would you like for dinner?” As they head cannot process the vast quantity of information present on food. A delayed response on the first food that pops into their head is what is obtained from these people. They are more capable of making limited choices such as “Would you like salad or toast?”  The disease being an inherited one, is expected to present members of a family with similar symptoms but this is not the case. The symptoms are highly variable even between twins who have similar genetic make ups and have inherited the same Htt gene. The nurse described three brothers who have all been affected by the disease and each of them displays the three different classical symptoms of the disease. The eldest majorly displays the motor disorder, the middle the cognitive deficit and the last/third has emotional disturbances. These also have visual processing problems and often tend to confuse their left from right, and tend to walk into doors/walls and they cannot perceive space around them (“Do I have HD?”).  Many are encouraged to take genetic testing if they belong to a family with a History of Huntington’s disease but many people chose not to as they feel they live their more active years of their lives without any problems. They feel accomplished and feel worthy members of society. The one who do take the test are people who worry that their recent events of forgetfulness and their slip are all effects of the disease catching up. An interesting case that she did present us with was a case of a lady who showed up with symptoms of HD and no family history of the disease. This being a genetic disease they did DNA fingerprinting of her family members and discovered that her Father who she believed to be her Father was not her Biological father but it was the man four doors away that had the funny gait (affected walking).  So you not only come to know you have a disease but you also come to know who your real father is. Tragic! The disease is a mutation in a gene called Huntingtin gene and is an expansion of a trinucleotide CAG. The longer the CAG repeat the earlier the onset of the disease and the most common cause of death is pneumonia. The disease weakens muscles and the esophagus being a muscle also weakens, so patients most often choke on their own saliva causing death.

The impact of the disease never hit me hard till I had this experience. Human mind being frail as it is forgets lessons learnt very soon i.e. I went back to my lab and started working harder on my project for the next two hours in the hopes of finding a cure but as soon as I saw the results of my experiment my determination was killed and I went back to my old ways of monotony.

P.s. This is by far my longest post and therefore there will be heaps of mistakes. I am tired after writing this and am in no mood to proof read. I will definitely proof read some other day so please bear with my non-sense till then.