Based on a true story!
At the moment of conception, nothing short of a miracle occurs! A new life is created. At that very moment, within a millisecond, it is decided who that new life is going to be. It is the fastest board meeting of two merging companies ever. On that board meeting, within that millisecond, two sets of chromosomes meet together to discuss, argue and decide the characteristic of that new life. Forty-six in all, twenty-three from the mother and twenty-three from the father. All with their own agendas to fight for. Depending on how strong they feel each chromosome will either cede or dominate over important decisions such as the colour of the eyes and the hair and to the extent of how many will grow! This is where the expression, "He's got his mothers eyes!", comes from. The mother's chromosome responsible for that department won the day when the board meeting occurred. It is truly amazing that by just looking at someone you can tell who their parents are! It is also remarkable that some children look so much like one parent. Obviously that set of chromosomes had dominance over the board meeting that day.
At the moment of conception, nothing short of a miracle occurs! A new life is created. At that very moment, within a millisecond, it is decided who that new life is going to be. It is the fastest board meeting of two merging companies ever. On that board meeting, within that millisecond, two sets of chromosomes meet together to discuss, argue and decide the characteristic of that new life. Forty-six in all, twenty-three from the mother and twenty-three from the father. All with their own agendas to fight for. Depending on how strong they feel each chromosome will either cede or dominate over important decisions such as the colour of the eyes and the hair and to the extent of how many will grow! This is where the expression, "He's got his mothers eyes!", comes from. The mother's chromosome responsible for that department won the day when the board meeting occurred. It is truly amazing that by just looking at someone you can tell who their parents are! It is also remarkable that some children look so much like one parent. Obviously that set of chromosomes had dominance over the board meeting that day.
Once the super quick board meeting is done, the production line immediately goes to work. Little factories known as cells divide at an alarming rate. "Business is booming!", as they say. Each little factory carries the blueprint for the whole empire. As cell divide, departments are formed. The heart, the lungs, the kidneys and hundreds more. All being done by each individual employee whether his name is DNA, RNA or whether is name is enzyme or protein. They all do their job. Some better than others!
This may not be apparent until birth or even many years after that. But for now everything seems normal. Nobody knows that something is amiss. The doting parents think that their little bundle of joy is the most beautiful baby. He has some cute little birthmarks here and there. Maybe they don't realise his head is a little on the large size but he has very interesting eyes when you look deeply into them. They try to support him as he struggles more than others at school, particularly maths. Then one day after some tests a doctor with previous of knowledge of a condition known as Neurofibromatosis (type 1) informs the parents that their child is one of the 1 in 3000.
As you know we live in a "blame culture", and we know who to blame! It's a little guy who works for the 1200-1500 (according to geneticists) strong department Chromosome 17. We sometimes even know which branch, whether it be X or Y. He is one of the guys who really should have been laid off when the merger happened. After all poor ol' Blue Eyes ended up being shown the door in favour of Brown Eyes at the merger and he was great at his job! Can't sack the guy who works for Chromosome 17 because there is no one else available to do his job. We are, in fact, waiting for an expert to come in and retrain him, send him on a training course to help him do his job better! His name is Neurofibromin 1. His job is to regulate or supervise the guy called RAS protein one who basically has a hand in cell growth. As you know some people should not be in a supervisory position because they can't manage their staff properly and RAS protein 1 needs special supervision because he is a bit of a workaholic! Neurofibromin 1 one, instead making sure ol' RAS has regular coffee and tea breaks, lets him charge on relentlessly at a job he loves to do. The result is a series of effects on the human body manifested in abnormal cell growth which causes the cafe au lait spots, the larger head and the tumours that appear wherever there are nerves. Which is basically all over the body! Some other side effects are hypertension, impaired or loss of vision and scoliosis among other things. Just one little defect cause much bigger consequences elsewhere. A butterfly effect! Mathematician Edward Lorenz stated that a hurricane could be the result of a butterfly that flapped its wings several weeks before. Just one protein, just one gene can do so much harm. For example, on Chromosome 22, the gene Neurofibromin 2 being defective will cause the related disorder of NF2. If you investigate further there are a host of genetic malfunctions causing other disorders. DSCR1 on Chromosome 21, if defective, will cause Down syndrome. Genes are very complicated and delicate things! They are what makes us uniquely individual!
Just as each person is an individual in their own right, each person with NF has their own individual NF. Their expressivity of NF is as unique as their fingerprint! Only they have it. Sure the symptoms may be the same but not exactly, after all a fingerprint can be explained as contour lines on the tip of ones finger but a fingerprint can mean the difference between guilty and not guilty! With each persons unique manifestation of NF comes their own individual pain whether it is physical or emotional. It is personal to them!
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