Rett syndrome is a rare non-inherited genetic postnatal neurological disorder that occurs almost exclusively in girls and leads to severe impairments, affecting nearly every aspect of the child’s life: their ability to speak, walk, eat, and even breathe easily. The hallmark of Rett syndrome is near constant repetitive hand movements while awake. Cognitive assessment in children with Rett syndrome is complicated, but we know that they understand far more than they can communicate to us, evidenced by their bright and attentive eyes, and their ability to express a wide spectrum of moods and emotions.
In 1954, Dr. Andreas Rett, a pediatrician in Vienna, Austria, first noticed two girls as they sat in his waiting room making the same repetitive hand-washing motions. Brett syndrome is a unique postnatal neurological disorder that is first recognized in infancy and seen almost always in girls, but can be rarely seen in boys.
This neurological disorder is where there is a mutation in a single gene, the MECP2 gene.
The MECP2 gene provides instructions for making a protein called MeCP2. This protein helps regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes. The function of DNA is the blueprint of biological guidelines that a living organism must follow to exist and remain functional. Medium of long-term, stable storage and transmission of genetic information.The MeCP2 protein is present in cells throughout the body, although it is particularly abundant in brain cells.
In the brain, the MeCP2 protein is important for the function of several types of cells, including nerve cells (neurons). The protein likely plays a role in maintaining connections (synapses) between neurons, where cell-to-cell communication occurs.
Many of the genes that are known to be regulated by the MeCP2 protein play a role in normal brain function, particularly the maintenance of synapses BUT the MeCP has a permanent alteration in it so if effects the DNA and there won’t be normal function.
Affecting only children because this happens during fetal development when are DNA/RNA and genes are made up. This won’t happen in adulthood, your RNA, DNA and genes won’t change at that age.
It mostly affects girls rather than boys because the affected gene is located within the X chromosome. Chromosomes contain the set of instructions to create an organism. Men have one X chromosome and one Y chromosome, the latter being responsible for the characteristics that make men male, including the male sexual organs and the ability to produce sperm. In contrast, women have two copies of the X chromosome= XX. But, because the X chromosome carries a bigger instruction manual than the Y chromosome, biology’s solution is to largely inactivate one X chromosome in females, giving one functional copy of the X in both men and women.
Rett Syndrome is genetically based and is a very rare condition, but there is no known cure. This is a life-long condition. You can’t repair mutated genes or someone’s DNA/RNA.
Symptoms can be managed, and early detection is the key to making it easier on both the child affected and their families, but the patient will need constant care for the rest of their lives.
Often akin to the symptoms of severe autism, it is important to differentiate between the two diseases to get a correct diagnosis.
“Helen’s ability to empathize with the individual citizen in need as well as her ability to work with world leaders to shape global policy on vision loss made her a supremely effective ambassador for disabled persons worldwide. Her active participation in this area began as early as 1915, when the Permanent Blind War Relief Fund, later called the American Braille Press, was founded. She was a member of its first board of directors.”
American Foundation for the Blind – AFB
“At the age of 19 months, Helen became deaf and blind as a result of an unknown illness, perhaps rubella or scarlet fever. With the help of Anne Sullivan (her teacher) she made Helen learn to read & talk. She made the signals have meaning in Helen’s mind. Helen made it to a BSN, just as much her’s as Anne Sullivan’s. Helen’s ideals found their purest, most lasting expression in her work for the American Foundation for the Blind (AFB). Helen joined AFB in 1924 and worked for the organization for over 40 years. The foundation provided her with a global platform to advocate for the needs of people with vision loss and she wasted no opportunity. She met with world leaders such as Winston Churchill, Jawaharlal Nehru, and Golda Meir. In 1948, she was sent to Japan as America’s first Goodwill Ambassador by General Douglas MacArthur. Her visit was a huge success; up to two million Japanese came out to see her and her appearance drew considerable attention to the plight of Japan’s blind and disabled population. Wherever she traveled, she brought encouragement to millions of blind people, and many of the efforts to improve conditions for those with vision loss outside the United States can be traced directly to her visits.”
American Foundation for the Blind – AFB
“When significant memory loss occurs among older people, it is generally not due to aging but to organic disorders, brain injury, or neurological illness. Studies have shown that you can help prevent cognitive decline and reduce the risk of dementia with some basic good health habits: staying physically active, getting enough sleep, no smoking, having good social connections, limiting alcohol to no more than one drink a day, eating a Mediterranean style diet.”
Harvard Health Publishing/Harvard Medical School
There’s no denying that as we age chronologically, our body ages right along with us. But research is showing that you can increase your chances of maintaining a healthy brain well into your old age if you add these “smart” foods to your daily eating regimen.
“Brainberries” is what Steven Pratt, MD, author of Superfoods Rx: Fourteen Foods Proven to Change Your Life, calls these tasty fruits. Pratt, who is also on staff at Scripps Memorial Hospital in La Jolla, Calif., says that in animal studies researchers have found that blueberries help protect the brain from oxidative stress and may reduce the effects of age-related conditions such as
Alzheimer‘s disease or dementia. Studies have also shown that diets rich in blueberries significantly improved both the learning capacity and motor skills of aging rats, making them mentally equivalent to much younger rats. Ann Kulze, MD, author of Dr. Ann’s 10-Step Diet: A Simple Plan for Permanent Weight Loss & Lifelong Vitality, recommends adding at least 1 cup of blueberries a day in any form — fresh, frozen, or freeze-dried.
Deep-water fish, such as salmon, are rich in omega-3 essential fatty acids, which are essential for brain function, says Kulze. Both she and Pratt recommend wild salmon for its “cleanliness” and the fact that it is in plentiful supply. Omega-3s also contain anti-inflammatory substances. Other oily fish that provide the benefits of omega-3s are sardines and herring, says Kulze; she recommends a 4-ounce serving, two to three times a week.
Nuts and seeds.
Nuts and seeds are good sources of vitamin E, says Pratt, explaining that higher levels of vitamin E correspond with less cognitive decline as you get older. Add an ounce a day of walnuts, hazelnuts, Brazil nuts, filberts, almonds, cashews, peanuts, sunflower seeds, sesame seeds, flax seed, and unhydrogenated nut butters such as peanut butter, almond butter, and tahini. Raw or roasted doesn’t matter, although if you’re on a sodium-restricted diet, buy unsalted nuts.
Avocados are almost as good as blueberries in promoting brain health, says Pratt. “I don’t think the avocado gets its due,” agrees Kulze. True, the avocado is a fatty fruit, but, says Kulze, it’s a monounsaturated fat, which contributes to healthy blood flow. “And healthy blood flow means a healthy brain,” she says. Avocados also lower blood pressure, says Pratt, and as hypertension is a risk factor for the decline in cognitive abilities, a lower blood pressure should promote brain health. Avocados are high in calories, however, so Kulze suggests adding just 1/4 to 1/2 of an avocado to one daily meal as a side dish.
Whole grains, such as oatmeal, whole-grain breads, and brown rice can reduce the risk for heart disease. “Every organ in the body is dependent on blood flow,” says Pratt. “If you promote cardiovascular health, you’re promoting good flow to the organ system, which includes the brain.” While wheat germ is not technically a whole grain, it also goes on Kulze’s “superfoods” list because in addition to fiber, it has vitamin E and some omega-3s. Kulze suggests 1/2 cup of whole-grain cereal, 1 slice of bread two-thee times day, or 2 tablespoons of wheat germ a day.
Beans are “under-recognized” and “economical,” says Kulze. They also stabilize glucose (blood sugar) levels. The brain is dependent on glucose for fuel, Kulze explains, and since it can’t store the glucose, it relies on a steady stream of energy — which beans can provide. Any beans will do, says Kulze, but she is especially partial to lentils and black beans and recommends 1/2 cup every day.
Pomegranate juice (you can eat the fruit itself but with its many tiny seeds, it’s not nearly as convenient) offers potent antioxidant benefits, says Kulze, which protect the brain from the damage of free radicals. “Probably no part of the body is more sensitive to the damage from free radicals as the brain,” says board-certified neurologist David Perlmutter, MD, author of The Better Brain Book. Citrus fruits and colorful vegetables are also high on Perlmutter’s list of “brainy” foods because of their antioxidant properties — “the more colorful the better,” he says. Because pomegranate juice has added sugar (to counteract its natural tartness), you don’t want to go overboard, says Kulze; she recommends approximately 2 ounces a day, diluted with spring water or seltzer.
Freshly brewed tea.
Two to three cups a day of freshly brewed tea — hot or iced — contains a modest amount of caffeine which, when used “judiciously,” says Kulze — can boost brain power by enhancing memory, focus, and mood. Tea also has potent antioxidants, especially the class known as catechines, which promotes healthy blood flow. Bottled or powdered teas don’t do the trick, however, says Kulze. “It has to be freshly brewed.” Tea bags do count, however.
Let’s end with the good stuff and my favorite desert. Dark chocolate has powerful antioxidant properties, contains several natural stimulants, including caffeine, which enhance focus and concentration, and stimulates the production of endorphins, which helps improve mood. One-half ounce to 1 ounce a day will provide all the benefits you need, says Kulze. This is one “superfood” where more is not better. “You have to do this one in moderation,” says Kulze.
Lastly the prevention of diseases that can impact all organs including our brain. With obesity comes the risk of heart disease, diabetes II, that can lead into further problems down the road with other systems of the human body. To get on prevention check if your body mass index is in the range it should be and if your not sure check online BMI where it is for free.
“Eat all the foods you enjoy—but the key is to do it in smaller quantities, says Elisa Zied, RDN, who has lost and kept off more than 30 pounds since her highest weight in high school. Greens, oranges, reds, purples, yellows…you get the picture. Eating the rainbow will supply your body with a range of disease-fighting phytonutrients, and will naturally fill you up to help you cut back on unhealthy foods, says Dr. Lipman. Remember simple exercises 10minutes a day can boost the metabolism and walking 2 miles a day will help with breakdown.”
“Stress is how the brain and body respond to any demand. Any type of challenge—such as performance at work or school, a significant life change, or a traumatic event—can be stressful. Everyone experiences stress from time to time. There are different types of stress—all of which carry physical and mental health risks. A stressor may be a one-time or short-term occurrence, or it can happen repeatedly over a long time. Some people may cope with stress more effectively and recover from stressful events more quickly than others.”
NIMH National Institute of Mental Health
One way of looking at life is whatever challenges comes your way know you will survive and for any losses you may experience when looking back on them take the positive aspects or memories not the negative that builds a bad effect on you (Ex. Insomnia to depression to high blood pressure to alcoholism to drugs). A positive effect can be as simple as a smile when reflecting memories, which FYI allows less frowning that will cause less wrinkles on the forehead, as we get older. Sometimes it’s not that simply and when it gets harder take up a constructive way of dealing with it (Ex. Work out at your level, walking, singing, go to a comedy movie, get together with friends go out, and do anything that gets your mind off of the stress and even out of your body through work out at the gym to just biking or walking.).
For starters stress is a body reaction to CHANGE. How to you look at change? Easy, positive! It may not appear easy at first but try to look at this change as a sense of difficulty yet a challenge with a victory in the end, if approached right. Let us take the following challenges, for example – Having a child leave home for college or marriage, losing a home with this economy, a loss of a friend in your life: How do you look at these experiences positive?
Well for the child I would be so happy for her or him starting college life with my worries but know I raised her or him well and if he makes mistakes on the way he or she will learn to get up off the ground and fix them knowing he or she can come to me or dad whenever he has the need or if we sense a problem we would address it (Its part of life=growing up).
Another aspect to look at regarding this stress is there is loss in the parent role so fill up that loss with a new hobby, or get active in whatever organization you are in (Ex. Church, Temple, School, to just taking up ceramics or do more traveling with your spouse and friends). Help out the community you live in and assist in organizations that you feel do help the society in your city or town or village you live in. I had my falls with the stresses that I have come across in my lifetime but you got to get up every time to stand again, some quicker than other times.
How do you deal with losing a home with this economy or a business as well appreciate the good memories you had when you had the home and pick up starting a new life elsewhere with making it a journey down the yellow brick road leading you to where the rainbow is at the end; don’t look at it as a loss. If you lost a business in this time of COVID-19 due to this long stretch of lockout particularly in NY (take the city alone). It is a hard challenge to come across but there is a new plan and journey for you to restart. I was there in losing my business or a job including my husband in this COVID-19 but we resolved all job problems and with saving our money survived. We have each other and thank God our home. We can make through anything as long as we have each other and this is not a happy episode of “Little house on the Prairie” but knowing how to look at life’s challenges positive with negative feelings at first, which is only expected. The same as Erickson’s stages of death; first denial to anger to bargaining to depression to acceptance and will relive these steps over again during your challenge but will beat it with having a positive approach and knowing how to use effective methods to let your stress go.
Dealing with losing a friend, again, the way I look at it is I appreciate the time I had with her or him and know they haven’t left me in spirit (if deceased). If the person is still living know there are reasons for everything; whatever the cause was for the reason for the relationship parting maybe. When out of my control I think of how I had a good friendship as opposed to never having one with that individual. I accept that nothing lasts forever or indefinitely, with appreciating the time I may have had with the person. I try to cherish each day for being given that gift by God to have ever have met that person. Ending note, is I look at life this way, whatever positive entity comes in my life may be taken away from me and I should appreciate every moment I spend with that person or creature or career or job or home in my life that I love so much (including my life span that only upstairs knows how long that time factor will be but I try to live a life at its healthiest optimal level with practicing positive behavior which is knowing whatever stressors come my way there is always someone worse off and thank God for the life I was given which makes me a strong person in facing everything that has come my way, so far.
If I don’t deal with stress like this than I can expect complications that may arise, just like for anyone else who looks at challenges coming their way in a negative sense. You commonly see stress become a negative experience when a person faces continuous challenges/stressors without relief or relaxation between them. The ending result is the person becomes overworked and stress-related tension builds. Stress that continues without positive resolution at some level can cause a condition called distress, which is a negative stress reaction. The physical reactions that happen to your body due to negative stress can be: -Elevated high blood pressure –Headaches –Chest Pain –Upset Stomach –Insomnia –Grinding of the teeth –Jaw Tension –Teeth grinded down –Irritability –Anger –Panic episodes –Vasoconstriction to our vessels causing increases to the heart rate –Decreases sex drive –Depression (Research even suggests that stress also can bring on or worsen certain symptoms or diseases.)
Stress costs American industry more than $300 billion annually. The lifetime prevalence of an emotional disorder is more than 50%, often due to chronic, untreated stress reactions.
Stress is a normal part of life. Many events that happen to you and around you — and many things that you do yourself (Ex. Work 40 to 60 hrs a week in a highly stressful job, like a policeman) – will put stress on your body. You can experience stress from your environment, your body, and your thoughts. You can also cause the stress to impact your body with first just signs and symptoms (s/s) developing, that are listed above, but without relief of the stress these s/s can lead you into a disease/illness forming or even make the diagnose (s) you already have even worse.
Many signs and symptoms pick up when exposed to continual stress or stresses that just build up on top of each other causing some people in developing unhealthy habits, poor dieting, and the lack of desire to be as active as they were which in turn develops conditions that would not have occurred if this negative behavior didn’t happen over a long period of time.
This behavior with the stress or stresses you are experiencing increases the probability of health conditions starting to take place in your body or if you’re with certain diagnoses already the stress can possibly impact your body by worsening the condition.
The conditions that can develop from any age of being under continual stress over a period of time are:
-ADD or ADHD –Panic disorders –High blood pressure –Anti-arrhythmias -Cardiac Disease -Diabetes 1 or Diabetes 2 -Stroke –Irritable Bowel Syndrome –Weight Gain/Obesity –Fibromyalgia –Complex Regional Pain Syndrome –ETOH -Depression and so much more.
“Smoking can cause lung disease by damaging your airways and the small air sacs (alveoli) found in your lungs. Lung diseases caused by smoking include COPD, which includes emphysema and chronic bronchitis. Cigarette smoking causes most cases of lung cancer.”