Galactosemia if a baby doesn’t drink formula containing milk.

Galactosemia is a genetic disorder that deals with the sugar galactose. Galactosemia is a rare genetic disorder that affects one’s ability to metabolize the sugar galactose properly. There are 2 types of galactosemia. This disorder is very uncommon, so uncommon that in  type 1, 1 in 30,000 to 60,000 people are affected and with type 2 ,1 in 100,000 people are affected(Sharecare). Seeing those stats and realizing that over 7.4 billion people live on this earth means that 194,000 people have this disease. This is why this disease can feel so lonely. This disease is the bodies way of permanently not allowing you to break down the sugar galactose. As you grow older you can become lactose intolerant which is the bodies way of responding to the halting of your bones.  Galactosemia prevents you from digesting lactose and if you do so it could come with some complications. Some of which can cause irreversible damage. All of this is about type 1, type 2 is less intense. Type 2 is more like lactose intolerant. Which is a sensitivity to the sugar galactose. It can be explained that ,  If everyone has 100% enzymes to break down the sugar then you would only have 25% of those enzymes(Community Medical Center). This is the less common than type 1, it is way less intense and cannot cause the irreversible damage that type 1 causes. There are not many ways for people to get this disease, the biggest and really only option is direct family connections. If a close family member has it or they are a  carrier then you could potentially be a carrier or have it. If you are a carrier and so is your husband then your children have a strong chance of getting the disease. You cannot develop this disease over time, you are either born with it or not. Since you are born with it then the foods you can’t have you don’t miss because you really have never had them before. Classic galactosemia or more commonly known as type 1 is the more intense version. It takes place when you are born and never goes away. It is diagnosed through a newborn screening or an amniocentesis(Boston Children’s Hospital). If the screening doesn’t show anything then the only way to recognize it is if a baby doesn’t drink formula containing milk. The symptoms of this disorder are convulsions, irritability, lethargy, poor feeding ( child refuses to eat formula containing milk), poor weight gain, yellowing of skin, whitening of eyes, and vomiting (Medlineplus). If the parent is not cousenisous then the baby could die. The sugar galactose will build up in the liver, kidney, brain, and will spread until the child dies (Medlineplus). Most diseases don’t have a cure, and it’s the same with this disease. Boston Children’s hospital is trying to work on a program to study the genetics for this disease to see how to stop it from happening. At this time the only treatment would be to stop the  consumption of products containing the sugar galactose. Living with type 1 is also very hard. There is so many foods and drinks that these kids cannot have either because they contain galactose or the doctors are not sure. According to the Galactosemia handbook, ” Child with the GALK gene should stay away from liver, sweetbreads. Margarine, butter, salad dressings, apples, bananas, dates, figs, grapes, kiwi, pears, watermelon, broccoli, brussel sprouts, carrots, onions, squash, tomatoes, sweet potatoes, peas lima beans string beans dried peas, pinto/kidney beans, puddings, custards, ice cream?ice milk, sherbet, yogurt, and anything containing milk chocolate. There are also some formulas the parents of the children should avoid because they can have the same amount of lactose as regular breast milk” This list from 2002 is a suggestion of foods to avoid.Duarte Variant Galactosemia more commonly known as type 2 is the less common of the 2 types. This one is really no different than if you were  lactose intolerant. It cause you to have stomach aches and vomiting if the consumption of galactose is to high. Finding out you have this type entails the same things as Type 1, a newborn screening or an amniocentesis. The symptoms are a little different though.There would be no whitting of your eyes or yellowing of your skin. Also irritability and convolutions would be put to minimum. Parents do have 2 different options when dealing with this strand of galactosemia. The first option is to treat them as if nothing is wrong, meaning the baby would consume breast milk or formula. The other option would be to give them water. This would be safer and may cause this may cause less irritability in the baby. Living with type 2  is no different than  a normal life. You wake up and go eat your cereal and go to school. You do just have to watch how much milk and galactose you consume because if you consume to much you have a chance of throwing up. Since this is a milder disease there is no cure and there will never be one. There is no way to prevent getting the disease , Since you are born with it. There are other things that come with it such as food sensitivity. You could have sensitivity to acidic foods or problems consuming dairy. Too much dairy will definitely bother your stomach. Some ways to limit this would be to take a lactaid before eating any type of dairy or only using lactaid products. There may not be any way to fully get rid of either type but there are definitely ways to prevent and limit the risk of some of the side effects.There is not a tone of rechearch will this disorder but some colleges and hospitals are looking into medication and new diets that could potentially help. Boston Children’s Hospital is working on something called “Metabolism Program” which is a program that provides comprehensive evaluation and treatment for infants, children and adolescents who have diseases that involve metabolism. Our program is staffed by a team of experienced clinicians, all of whom have specialized training in the care of individuals with metabolic diseases. Experts from Metabolism, Neurology, Gastroenterology, Nutrition, Ophthalmology, social work and Psychology work together to perform comprehensive and accurate neuroimaging, ocular assessments, neuropsychological studies, and other specialized evaluations.Our multidisciplinary approach works to enhance a child’s health and development and helps them reach their maximum potential in all aspects of their normal activities” (Bostan Hospital). Some other colleges such as Emory University, University of Miami,and Maastricht University Hospital are working on new diets and some drugs that could fix some of the symptoms that Type 1 patients have. Most of these colleges have information, since it’s so hard to get drugs and things like these through a market and into handbooks it may be awhile before we see anything on it.This may also  become involved with cells and how they work to prevent and figure out what genes are affected by galactosemia. There are things that can be prevented and worked harder at. When you find out at birth that you have this disease you will be put through exams and test  your brain and you physical movement because this can stop working. Most kids have problems with speech, language, hearing, fine-motor coordination, hemorrhage of the gel-like substance of the eye, tremors, stunted growth, and certain learning disabilities(Newborn Handbook). Most families with this disease chose to have other family members or friends carry their kids or adopt because they don’t want their kids to have the risk or have to go through life with these problems. There’s also a chance that the women may not be able to get pregnant because this disease can cause ovarian failure in some women (Boston Children’s Hospital).  It the same with cancer and other mental disorders. There’s no way to stop it once you know it’s coming you live your life and try to forget it but it will always be there. Sometimes it limits what you can do but you have Galactosemia which means you don’t have to stop living

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