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.