Function Problems

Eating difficulties Babies with Down syndrome often have difficulties with eating, particularly if they are born prematurely. This may be a result of low muscle tone (hypotonia) and oral muscular difficulties with coordinating sucking and swallowing. Eating problems can also be associated with other medical problems. For instance, babies with Down syndrome may also have heart problems that could cause them to tire easily, or be short of breath and not able to eat adequately. There are many methods that may help with eating problems including holding the baby in different positions while they eat, stimulating the baby to suck such as stroking their cheek, and, in bottle fed babies, trying different nipples or bottles. Sometimes the baby is not able to eat adequately despite these measures and it may be necessary to feed the baby via a naso-gastric tube for a while. This is a small, flexible tube that is passed into the nostril, down the esophagus and into the stomach. This is usually only necessary for a short period of time. Gastro-esophageal reflux This occurs when food that had already passed into the stomach and beyond comes back up into the esophagus and may be vomited up. Most healthy babies (and even older children and adults) experience this occasionally. It is more common in babies because their diet is made up of liquids and therefore more easily brought back up. Babies with Down syndrome are more likely to have reflux, likely because the muscles of the stomach and esophagus that push food along seem to work less effectively. Symptoms may be very mild and are able to be managed with simple methods such as holding the baby in an upright position after they are done eating. However, if the vomiting is considerable the child may not gain weight. Also the acid contents of the stomach irritate the lower esophagus and can cause discomfort and sometimes bleeding from the esophageal wall. This in turn may cause anemia. In these cases, medical treatment is necessary. Different types of medicine are normally used, often in combination. They work in a number of ways - by preventing the stomach contents flowing back, by neutralizing the stomach acid, and by improving the gastrointestinal motility. Rarely these measures won't be enough to control the problem and an operation to tighten up the area between the esophagus and stomach could be necessary. Malabsorption This is a condition in which the bowels are unable to absorb particular nutrients from food. This causes a depletion of some nutrients and poor digestion. Children with malabsorbtion problems also experience serious vitamin and mineral deficiencies. While supplementation may help, if the gut can’t absorb the nutrients from food, they will have similar difficulties absorbing supplements as well. It is important for parents to work with their child’s healthcare practitioner to determine the best course of action regarding nutrient deficiencies and supplementation. Celiac Disease is a type of malabsorption that is more common in Down syndrome. This condition is, in essence, a food allergy or intolerance to the protein called gluten. Gluten is the common name for the proteins in specific grains that are harmful to persons with celiac disease. These proteins are found in ALL forms of wheat (including durum, semolina, spelt, kamut, einkorn and faro) and related grains rye, barley and triticale and MUST be eliminated. Also to be noted is that some people may be sensitive to corn and soy products since the proteins in corn and soy are similar in make up. When people with celiac disease eat foods containing gluten, an immune-mediated toxic reaction is created causing damage to the small intestine and does not allow food to be properly absorbed. Even small amounts of gluten in foods can affect those with celiac disease and cause health problems. Damage can occur to the small bowel even when there are no symptoms present. Infants, toddlers, and young children often exhibit growth failure, vomiting, abnormal stools, bloated abdomen, tiredness, and behavioral changes. The following are some of the related health problems that may occur as a result of celiac disease: Iron deficiency anemia Early onset osteoporosis Vitamin K deficiency associated with risk for hemorrhaging Vitamin and mineral deficiencies Central and peripheral nervous system disorders - usually due to unsuspected nutrient deficiencies Pancreatic insufficiency Intestinal lymphomas and other GI cancers (malignancies) Neurological manifestations Gall bladder malfunction Specific antibody blood tests help identify the presence of CD and are the initial step in screening and should include the following tests: Endomysial antibody (EMA-IgA) Tissue transglutaminase antibody (tTG - IgA/IgG) Anti-gliadin antibody (AGA-IgG, AGA-IgA) Total serum IgA The exception is children under the age of 2 years in which tTG and EMA may not be present. Parents should talk to their child’s doctor regarding these tests. It is essential that patients with positive antibody tests, and those with an IgA deficiency have a small bowel biopsy (which is performed endoscopically) to confirm the diagnosis and assess the degree of damage to the villi in the intestinal lining. Because celiac disease is a chronic disorder, the only treatment is the lifelong adherence to the gluten-free diet. When gluten is removed from the diet, the small intestine will start to heal and overall health improves over time. Medication is usually not required. A child diagnosed with celiac disease should have medical follow-up to monitor the clinical response to the gluten-free diet. Adapting to the gluten-free diet requires lifestyle changes. It is essential to read labels and learn how to identify foods that are appropriate for the gluten-free diet and do not contain gluten.

Structural Problems

Around ten percent of children born with Down syndrome will have one of the following structural problems. The most common problems are discussed below. Small bowel obstruction A small bowel obstruction occurs when something is blocking the small bowel so food is unable to pass from the stomach to the large bowel. This can be a complete obstruction; where part of the bowel has failed to form at all, or a partial obstruction; where the bowel has formed but is narrower than a normally formed small bowel. When the blockage is severe, it may be detectable before birth using an ultrasound scan. If the problem is not detected before birth, problems will usually present in the first few hours or days of life with vomiting or failure to pass stools. A less severe obstruction may not present so obviously, but vomiting is still likely to be the main symptom. An x-ray is the best way to determine if there is a blockage and surgery is the most common form of treatment. The surgery involves removing the blocked section of bowel and reattaching again. In a small number of milder cases, surgery may be avoided through dietary intervention. Abnormalities of the anus Sometimes babies are born without an anal opening (Imperforate anus). This is not common but occurs more often in children with Down syndrome. This condition is noticed at birth and requires immediate action. The extent of corrective surgery depends on the severity of the abnormality. Less severe problems occur when the anal opening is narrow thus causing constipation. In less severe cases, the opening can sometimes be stretched while the child is under anesthesia. The more severe cases require corrective surgery. Annular Pancreas This problem is similar to an obstruction. The pancreas normally lies behind the lower part of the stomach and the first part of the small bowel. With this condition, the pancreas encircles the duodenum (the first short section of the small intestine immediately beyond the stomach) causing narrowing or blockage. Hirschprung's disease Hirschprung's disease is a relatively rare condition that tends to be found more often in children with Down syndrome (approximately two percent of children with Down syndrome). It is an abnormality of the lower part of the large bowel where part of the bowel wall is missing nerve cells. This means it cannot do its normal work of evacuating stools. Sometimes a long segment of bowel wall is affected. In this case it may be obvious in the newborn period because the baby does not pass any stools. More often these babies have chronic constipation, poor weight gain, vomiting and a swollen abdomen. If however only a short part of the bowel is involved (short segment Hirschprung's disease) symptoms are less severe. It is in these children that the diagnosis may be easily missed. It is important to consider the possibility of short segment Hirschprung's in any child whose constipation persists despite dietary measures and simple laxatives. A diagnosis is made through a thorough medical examination, X-ray and biopsy of the bowel. Treatment usually involves surgery to remove the diseased part of the bowel. Sometimes it is necessary to use a colostomy after surgery. This is when the upper end of the remaining bowel is temporarily attached to an opening or stoma in the abdominal wall, through which stools are passed into a bag. This allows the bowel to heal. Then the sections of bowel can be reattached.

Gastrointestinal Issues

Problems with the gastrointestinal tract can either be caused by abnormal structure or may be because part of the tract is not functioning properly. Children with Down syndrome are more likely to have problems in both of these areas than the general population. Some of these problems are serious and life threatening and are likely to cause immediate problems in a newborn. Other issues may not be as serious, but nevertheless can cause considerable problems. Sometimes, gastrointestinal problems may not be noticeable by parents or doctors because some issues develop more slowly. Gastrointestinal problems are a common cause of illness in all children. The more common problems include gastroenteritis (an infection affecting the stomach and intestines) and appendicitis. Regarding typical stomach and digestive problems, children with Down syndrome are no different than typically developing children. However, if a child with Down syndrome seems to have more gastrointestinal problems it is important to have a medical assessment which should consider both the common conditions as well as those that tend to more often affect children with Down syndrome. Symptoms of Gastrointestinal Disorders Found in Children with Down Syndrome As with any health issue, there are numerous symptoms that occur with gastrointestinal tract problems. The following sections discusses some of these symptoms. Vomiting All children vomit from time to time. In babies this may just be a small amount of undigested milk that is brought back after eating and is not usually a sign of an underlying disease or problem. It can often be helped by careful attention to feeding technique, avoiding taking in too much air and keeping the baby upright they eating for about half an hour. Children may also vomit when they are ill (e.g., flu, chicken-pox or other viruses). In these situations the vomiting is usually short lived and goes away when the underlying problem is resolved. If vomiting is severe, frequent (i.e. more than a few times a day) or prolonged (lasting more than a few days) a visit to the doctor’s is warranted. Other signs that the problem is more serious include bile stained vomit, or blood in the vomit. This may look dark brown or like coffee grounds mixed in the vomit. Diarrhea Diarrhea is defined as frequent passing of loose, watery stools. It is impossible to specify how loose, or how often is “normal,” since every person is different. Many infants and toddlers (and some adults) will have several loose stools a day as their normal pattern. There will also be normal, healthy variations depending on what we eat and drink. The important thing is to notice if there is a significant change from the child's normal pattern that lasts more than a few days. Sometimes stools may be particularly bulky, foul smelling or look frothy or greasy. This may be a sign that something is not being absorbed properly in the diet. Constipation Most people get constipated from time to time. Very hard stools can be a problem in themselves as they can be painful to pass and cause a small amount of bleeding on the way out. Sometimes constipation is not identified because the child is continuing to pass small amounts of liquid stools. This happens when hard, dry stool is retained in the rectum, while small amounts of liquid stool seep around the sides, often resulting in soiling. Constipation is a common problem in children with Down syndrome, and in most cases it is not because of an underlying disease. It is likely a result of a combination of low muscle tone, poor motility, diet, and inadequate intake of fluids. Giving extra fluids, fruit and increasing fiber may solve the problem, or it may be necessary for a doctor to prescribe a stool softener. If constipation is severe or persists despite these measures, then other causes should be considered. Hypothyroidism, a common problem for children with Down syndrome, can cause constipation. Another cause of constipation is Hirschprung's Disease. Stomach Pain Children often complain of stomach aches. In many cases it is nothing to do with the gastrointestinal tract but is a general symptom of being unwell, or it may be the child's way of explaining a pain somewhere else in the body. It may also be a symptom of anxiety. Stomach pain is often caused by constipation. Advice should be sought from a doctor if it persists or if it is associated with other symptoms such as vomiting or the pain seems to be severe. Stomach pain may also be related to the esophagus (heartburn or indigestion). Reflux tends to cause these problems. Reflux (discussed below) is more common in babies with Down syndrome and should be checked if the baby seems to be in pain; especially after eating. Poor Weight Gain This can be a symptom of many childhood disorders. It is often associated with gastrointestinal problems. Although the above mentioned gastrointestinal problems may not generally be serious, if they are associated with poor weight gain or weight loss, the help of a doctor is recommended. It should be noted that children with Down syndrome do grow more slowly when compared with other children. They tend to be of shorter stature than their typical peers. Along with height differences, there are also different weight “standards” for children with Down syndrome. Like all children, there is considerable variation in size and weight so a child's actual weight is not as important as the rate of weight gain or the comparison with previous weight or height measurements for that child.

Other Heart Related Problems in Children with Down Syndrome

Other Heart Related Problems in Down Syndrome In addition to the heart defects associated with Down syndrome, high blood pressure in the lungs (pulmonary hypertension) is more common in people with Down syndrome. This high blood pressure may be a result of malformation of the lung tissue, but the exact cause is not known. Higher blood pressure may limit the amount of blood flow to the lungs and therefore decrease the likelihood of symptoms of congestive heart failure seen in babies with complete AV canals or large ventricular septal defects. This then causes the problem of delaying a possible needed surgery to close holes in the heart. These babies must be watched carefully in order to determine the best time for surgery. Tests to Diagnose Congenital Heart Disease in Babies with Down Syndrome The majority of cardiologists agree that all babies diagnosed with Down syndrome should have a cardiology evaluation. This is because of the high incidence of associated congenital heart defects. A good history and physical examination should be performed by an experienced cardiologist to rule out any obvious heart defect. An electrocardiogram should be performed. This can be very helpful in making the diagnosis of AV canal, even when physical symptoms are absent. Some doctors also choose to perform at least one echocardiogram to rule out other subtle heart problems. If the diagnosis of congenital heart disease is made, the cardiologist normally follows up with the child through routine office visits. Most patients can be watched clinically to determine if the child is having difficulty because of the heart defect. Occasionally, a repeat electrocardiogram, chest X-ray, or echocardiogram is performed to further evaluate clinical changes. These tests are likely to be repeated before surgical repair is recommended. Rarely, a cardiac catheterization is required for complete evaluation prior to corrective surgery, especially in children where elevated pressures in the lungs are a concern. Parents of a child with Down syndrome need to work closely with their child’s doctor(s) to determine what route (surgical or medical) will best serve their child.

What is ASD?PDA?Tetralogy of Fallot?

What is ASD? In this defect there is a hole between the top chambers (receiving chambers or atria). Because of the higher pressure in the left side of the heart, oxygenated blood flows through the hole from the left to the right side of the heart, and back to the lungs, in addition to the normal flow. There are three types of Atrial Septal Defect; the most common is when there is a hole in the middle of the central heart wall. Holes in the lower part of the septum, called the primum defect (partial atrioventricular septal defect), are often associated with a problem of the mitral valve that often results in a leak. Less common are sinus venosus defects or holes in the top of the septum. These are associated with an abnormality of the right upper lung vein. Symptoms Generally patients with an ASD defect will exhibit no symptoms and the problem is only found when a routine clinical examination detects a heart murmur. Occasionally children with this problem will exhibit poor weight gain and a failure to thrive, and if there is mitral valve leakage there may be early symptoms of breathlessness. Treatment Small holes which allow little blood flow from left to right generally cause no problems. If they are located in the middle portion of the central heart wall, they may even close on their own. However, moderate and large holes do not close, and the extra work over the years places a strain on the right side of the heart causing an enlargement of both pumping chambers. Therefore, treatment (surgery) is usually recommended in the first few years of life for larger holes, before excessive strain has been placed on the heart. What is PDA? This defect is the continuance of a direct connection between the aorta and the lung (pulmonary) artery, which normally closes shortly after birth. A baby in the womb is supplied oxygen by the placenta via the umbilical cord. The baby's lungs are not expanded and require only a small amount of blood for them to grow. The ductus is a blood vessel that allows blood to bypass the baby's lungs. Generally the ductus close within a few days of birth, and the connections between the two sides of the heart no longer exist. The resistance to blood flow quickly falls with the onset of breathing. In some babies with Down syndrome the ductus fails to close. This causes higher pressure in the left side of the heart and increases the amount of blood flowing into the lungs. Symptoms If the ductus has partially closed and only a narrow connection remains, the baby won’t show symptoms. If the connection is larger, the baby may be breathless and tired and show poor weight gain. Treatment If the ductus remains open for more than three months, it is unlikely to close on its own and surgical closure is recommended. What is Tetralogy of Fallot? A small percentage of babies with Down syndrome have this complex heart condition which combines the most common defect associated with Down syndrome, AVSD, with Tetralogy of Fallot. This anomaly includes four different heart problems: a hole between the top chambers and a hole between the bottom chambers combined mitral and tricuspid valves (common atrioventricular valve) narrowed pulmonary artery (from heart to lungs) or the area under or above the valve, or all three thickening of the right bottom chamber (ventricle) Symptoms The combination of these defects early in life almost seems to balance out such that the child may be rather blue, but not too breathless. There can, of course, be too much blueness or too much breathlessness, depending on the severity of the different conditions. Treatment The type of surgery depends on the severity of the AVSD or the Fallots. Usually, the children are quite blue and require a BT shunt to increase the amount of blue going to the lungs. Then another operation is performed later – usually at 1-2 years of age – so that the holes can be closed, the valves repaired, and the way out to the lung artery widened.

Congenital Heart Disease in Children with Down Syndrome

Children with Down syndrome are at a much higher risk for congenital heart disease. As a comparison: the incidence of congenital heart disease in the general population is 0.8 percent. The incidence of congenital heart disease in children with Down syndrome is between 40-60 percent. Some heart defects can be left alone with careful monitoring while others require surgery to correct the problem. The following types of heart defects in children with Down syndrome are discussed below. Atrioventricular Septal Defects (AVSDs) – These are the most common in children with Down syndrome. Ventricular Septal Defects (VSDs) Atrial Septal Defects Patent Ductus Arteriosus Tetralogy of Fallot What is AVSDs? Atrioventricular Septal Defects (AVSDs) These heart defects are defined b a hole in the wall between the top chambers (atria) and bottom chambers (ventricles) and one common valve between the two areas. In some cases, there might not be a hole between the bottom chambers. Or the valves may not be joined together, but either or both might leak. This is known as valve incompetence. Because of the high pressure in the left ventricle which is needed to pump the blood around the body, blood is forced through the holes in the central heart wall (septum) when the ventricle contracts. This increases the pressure in the right ventricle. This increased pressure (pulmonary hypertension) results in excess blood flow to the lungs. Symptoms Some of the early symptoms seen are difficulty in eating, weight gain, fast irregular breathing and a degree of cyanosis (blueness) particularly noticeable around the mouth, fingers and toes. Clinical examination may show an enlarged heart and liver, and a diagnosis of ‘heart failure' may be given. This term is used because of the flow of blood from one side to the other; the heart has to work harder than normal causing the heart to fail to work normally. Not all children will exhibit symptoms early in life, and those that do will not always show all of these. Treatment Early treatment may involve the use of diuretics to control the fluid retention around the body and to reduce the volume of blood in the circulation, thus making the heart's workload easier. These may be used in conjunction with other drugs that increase the contraction of the heart muscle. Slow weight gain may indicate the need to use high-calorie formula increase calorie intake. Severe eating problems may warrant using a naso-gastric tube (through the nose and directly into the stomach) to help with proper nutrition. The majority of cases of AVSD usually require surgical intervention; this generally takes place within the first six months of life. What is VSDs? Ventricular Septal Defects (VSDs) In this defect there is a hole between the bottom chambers (pumping chambers or ventricles). Because of the higher pressure in the left side of the heart, this allows oxygenated blood to flow through the hole from the left to the right side of the heart, and back to the lungs, in addition to the normal flow. The amount of blood flow from the left to right ventricle depends on the size of the hole and on the pressure between the ventricles. In other words, the higher the rate of flow means more strain on the heart. The abnormal blood flow is responsible for the murmur that may be heard. Symptoms Generally patients with a small VSD will not exhibit symptoms (they are asymptomatic) and the problem may only be found when a murmur is detected upon routine examination. Patients with a moderate VSD may breathe quickly, exhibit poor weight gain, and be slower at eating. These children are also much more prone to chest infections. This tends to be more pronounced when the hole is large. Treatment As with ASVDs, patients with moderate or large holes usually require treatment with diuretics to control fluid retention and to reduce the volume of blood in the circulation may be used. Also, high-calorie formula or tube feedings might be necessary. Many VSDs will close spontaneously or get much smaller, so it is normal practice to leave a child with a small or moderate VSD and monitor their progress before deciding to operate. Surgery may be needed if there is failure to thrive despite medication, or concern about pulmonary hypertension. If a large VSD is present, surgery is almost always recommended.

Co-existing Medical Conditions in Down Syndrome

Medical Conditions associated in people with Down syndrome: Congenital Heart Diseases. Dementia may be seen. Eye problems, such as cataracts (most children with Down syndrome need glasses) Early and massive vomiting, which may be a sign of a gastrointestinal blockage, such as esophageal atresia and duodenal atresia Hearing problems, probably caused by regular ear infections Hip problems and risk of dislocation Long-term (chronic) constipation problems Sleep apnea (because the mouth, throat, and airway are narrowed in children with Down syndrome) Teeth that appear later than normal and in a location that may cause problems with chewing Underactive thyroid (hypothyroidism). Seizures and many more that I will be posting here.

What is Down Syndrome

In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called Trisomy 21. The extra chromosome causes problems with the way the body and brain develop. Down syndrome is the most common single cause of human birth defects. Symptoms Down syndrome symptoms vary from person to person and can range from mild to severe. However, children with Down syndrome have a widely recognized appearance. The head may be smaller than normal and abnormally shaped. For example, the head may be round with a flat area on the back. The inner corner of the eyes may be rounded instead of pointed. Common physical signs include: Decreased muscle tone at birth Excess skin at the nape of the neck Flattened nose Separated joints between the bones of the skull (sutures) Single crease in the palm of the hand Small ears Small mouth Upward slanting eyes Wide, short hands with short fingers White spots on the colored part of the eye (Brushfield spots) Physical development is often slower than normal. Most children with Down syndrome never reach their average adult height. Children may also have delayed mental and social development. Common problems may include: Impulsive behavior Poor judgment Short attention span Slow learning As children with Down syndrome grow and become aware of their limitations, they also feel frustration and anger.

The 21st Chromosome and Down Syndrome

The chromosomes are holders of the genes, those bits of DNA that direct the production of a wide array of materials the body needs. This direction by the gene is called the gene's "expression." In trisomy 21, the presence of an extra set of genes leads to overexpression of the involved genes, leading to increased production of certain products. For most genes, their overexpression has little effect due to the body's regulating mechanisms of genes and their products. But the genes that cause Down syndrome appear to be exceptions. Which genes are involved? That's been the question researchers have asked ever since the third 21st chromosome was found. From years of research, one popular theory stated that only a small portion of the 21st chromosome actually needed to be triplicated to get the effects seen in Down syndrome; this was called the Down Syndrome Critical Region. However, this region is not one small isolated spot, but most likely several areas that are not necessarily side by side. The 21st chromosome may actually hold 200 to 250 genes (being the smallest chromosome in the body in terms of total number of genes); but it's estimated that only a small percentage of those may eventually be involved in producing the features of Down syndrome. Right now, the question of which genes do what is highly speculative. However, there are some suspects. Genes that may have input into Down syndrome include: Superoxide Dismutase (SOD1)-- overexpression may cause premature aging and decreased function of the immune system; its role in Senile Dementia of the Alzheimer's type or decreased cognition is still speculative COL6A1 -- overexpression may be the cause of heart defects ETS2 -- overexpression may be the cause of skeletal abnormalities CAF1A -- overexpression may be detrimental to DNA synthesis Cystathione Beta Synthase (CBS) -- overexpression may disrupt metabolism and DNA repair DYRK -- overexpression may be the cause of mental retardation CRYA1 -- overexpression may be the cause of cataracts GART -- overexpression may disrupt DNA synthesis and repair IFNAR -- the gene for expression of Interferon, overexpression may interfere with the immune system as well as other organ systems Other genes that are also suspects include APP, GLUR5, S100B, TAM, PFKL, and a few others. Again, it is important to note that no gene has yet been fully linked to any feature associated with Down syndrome.

Trisomy 21

We went back to the Geneticist for the result of the Karyotyping Test.The result was P has Trisomy 21.

What is Trisomy 21? Trisomy 21: The Story of Down Syndrome The formal story began in 1866, when a physician named John Langdon Down published an essay in England in which he described a set of children with common features who were distinct from other children with mental retardation. Down was superintendent of an asylum for children with mental retardation in Surrey, England when he made the first distinction between children who were cretins (later to be found to have hypothyroidism) and what he referred to as "Mongoloids." Send Me Email Down based this unfortunate name on his notion that these children looked like people from Mongolia, who were thought then to have an arrested development. This ethnic insult came under fire in the early 1960s from Asian genetic researchers, and the term was dropped from scientific use. Instead, the condition became called "Down's syndrome." In the 1970s, an American revision of scientific terms changed it simply to "Down syndrome," while it still is called "Down's" in the UK and some places in Europe. In the first part of the twentieth century, there was much speculation of the cause of Down syndrome. The first people to speculate that it might be due to chromosomal abnormalities were Waardenburg and Bleyer in the 1930s. But it wasn't until 1959 that Jerome Lejeune and Patricia Jacobs, working independently, first determined the cause to be trisomy (triplication) of the 21st chromosome. Cases of Down syndrome due to translocation and mosaicism (see definitions of these below) were described over the next three years. The Chromosomes Chromosomes are thread-like structures composed of DNA and other proteins. They are present in every cell of the body and carry the genetic information needed for that cell to develop. Genes, which are units of information, are "encoded" in the DNA. Human cells normally have 46 chromosomes which can be arranged in 23 pairs. Of these 23, 22 are alike in males and females; these are called the "autosomes." The 23rd pair are the sex chromosomes ('X' and 'Y'). Each member of a pair of chromosomes carries the same information, in that the same genes are in the same spots on the chromosome. However, variations of that gene ("alleles") may be present. (Example: the genetic information for eye color is a "gene;" the variations for blue, green, etc. are the "alleles.") Human cells divide in two ways. The first is ordinary cell division ("mitosis"), by which the body grows. In this method, one cell becomes two cells which have the exact same number and type of chromosomes as the parent cell. The second method of cell division occurs in the ovaries and testicles ("meiosis") and consists of one cell splitting into two, with the resulting cells having half the number of chromosomes of the parent cell. So, normal eggs and sperm cells only have 23 chromosomes instead of 46. Many errors can occur during cell division. In meiosis, the pairs of chromosomes are supposed to split up and go to different spots in the dividing cell; this event is called "disjunction." However, occasionally one pair doesn't divide, and the whole pair goes to one spot. This means that in the resulting cells, one will have 24 chromosomes and the other will have 22 chromosomes. This accident is called "nondisjunction." If a sperm or egg with an abnormal number of chromosomes merges with a normal mate, the resulting fertilized egg will have an abnormal number of chromosomes. In Down syndrome, 95% of all cases are caused by this event: one cell has two 21st chromosomes instead of one, so the resulting fertilized egg has three 21st chromosomes. Hence the scientific name, trisomy 21. Recent research has shown that in these cases, approximately 90% of the abnormal cells are the eggs. The cause of the nondisjunction error isn't known, but there is definitely connection with maternal age. Research is currently aimed at trying to determine the cause and timing of the nondisjunction event. Three to four percent of all cases of trisomy 21 are due to Robertsonian Translocation. In this case, two breaks occur in separate chromosomes, usually the 14th and 21st chromosomes. There is rearrangement of the genetic material so that some of the 14th chromosome is replaced by extra 21st chromosome. So while the number of chromosomes remain normal, there is a triplication of the 21st chromosome material. Some of these children may only have triplication of part of the 21st chromosome instead of the whole chromosome, which is called a partial trisomy 21. Translocations resulting in trisomy 21 may be inherited, so it's important to check the chromosomes of the parents in these cases to see if either may be a "carrier." The remainder of cases of trisomy 21 are due to mosaicism. These people have a mixture of cell lines, some of which have a normal set of chromosomes and others which have trisomy 21. In cellular mosaicism, the mixture is seen in different cells of the same type. In tissue mosaicism, one set of cells, such as all blood cells, may have normal chromosomes, and another type, such as all skin cells, may have trisomy 21.

'Who will take care of Peanut when I Die?"

The thought of having a child with Down Syndrome ...the first thing that crossed my mind was.."He will be bullied"."What will happen to my baby when I die? Who will take care of him?" The Pediatrician gave me the name and hospital a Geneticist is connected to for the Genetics Test to confirm his suspicion and know more about DS. We stayed in the hospital for 5 days...during that time I would visit P in the nursery morning and afternoon.I noticed that even with his eyes covered P would move and try to see me I can see the cloth on his eyes moving...without me saying anything ..just watching him he knew I was there...P is very intuitive. The 3rd day when I came to visit him I noticed his skin was red all over...he was puffy specially his cheeks.I called the nurse and asked to get the pediatrician..this was so frustrating...there were nurses in there but nobody saw what was happening to P.The nurse then told me it must be side effect of antibiotics he was taking.I told her stop giving it to him.She then told me pedia is coming to change the antibiotics.I told her tell the pedia I want P in the room with me for the rest of my stay in the hospital.They called and made all the arrangements..and P is finally in the same room with me.They call it rooming in. P knows who trully cares for him.Everytime nurses and doctors will come to check on him P would make a sound like he does not like them to touch him..so I told them to just ask the pedia to check on him and they did.That made P comfortable and happy ..he knows Mama is around to protect him. After 5 days of hospital stay we are finally on our way back home with my Peanut. In my mind I was planning on everything that has to be done and I am going to do a lot of research.

My Baby Has Down Syndrome

After a day of giving birth to Mirage I asked if I can go see him in the nursery and so I did.I had pictures taken while he was in the incubator but I was not able to download and save them. I did not notice anything different with P I totally forgot about the impression in the ultrasound. That same day the pediatrician came to my room.First he introduced himself and told us there is a reason why he came to visit..to look at us(parents)to know if Mirage features came from us.And then he broke the news..its possible that Mirage has Down Syndrome.I started to cry.He was assuring us that having child with DS is easier now just make sure he will have therapies he needed..and that his mother had an assistant when she was working who has DS. He told us P had accompanying condition,hypospadias. What is hypospadias? Hypospadias is a male birth defect in which the opening of the tube that carries urine from the body (urethra) develops abnormally, usually on the underside of the penis. The opening can occur anywhere from just below the end of the penis to the scrotum. Hypospadias is a rare disorder, affecting only about 1 out of 250 live male births.1 A form of hypospadias in which the genitals are abnormally positioned can also develop in females. How is it treated? Hypospadias is sometimes treated with surgery to correct the placement of the urethral opening, usually during the first year of life. There are several different types of surgery, which may include repositioning of the urethra, correcting the placement of the urethral opening in the head of the penis, and reconstructing the skin of the area around the urethral opening. Because the foreskin may be needed for surgical repair, a baby with hypospadias should not be circumcised. Complications, which are more likely to occur in older children and adults, can include bleeding, infection, narrowing of the urethra (stricture), and curvature of the penis. Most males are able to urinate successfully from a standing position after surgical treatment of this condition.

Mirage was born

I did not expect to get pregnant again with Mirage....one day I was doing my regular brisk walking and I suddenly realized I missed my period.I went back home got myself a self-pregnancy test.Lo and behold it was positive.The next day we went looking for an OB Gyne and they did another test and of course got the same result.So the usual appointments and tests were set. I had a difficult pregnancy and was adviced to be on bedrest most of the time.But I am the type of person who cant stay still..I cannot be lying down on the bed 24 hours a day...it was not easy. On my 2nd term of pregnancy I was told by my OB Gyne/Sonologist that there is a possibility that my baby has DS due to the length of the femur that she got from the result of the 3D Ultrasound. Because of that I decided to get another Ultrasound in 2 big hospitals and 2 more clinics and the result was negative on the DS.After all the Ultrasound tests I was a bit assured that Mirage does not have DS. At 36 weeks my bag of water leaked and so I had to get a Caesarean Section. And so Mirage was born on August 31,2008 at 3:14 p.m. in Capitol Medical Center.