What is Down syndrome?

Down syndrome is a chromosomal disorder that occurs in approximately 1 in 700 births in Canada. A person with Down syndrome will have 47 chromosomes in each cell instead of 46. Down syndrome results from a genetic imbalance in cells caused from an extra set of genes on chromosome 21. Down syndrome affects all races and economic levels. Statistics show that 80 per cent of babies with Down syndrome are born to mothers under the age of 35 years, as these are prime child bearing years.

There are several characteristics that are more common for babies with Down syndrome. They may include: low muscle tone, eyes that appear to slant upward, a flat nose bridge, relatively small nose and ears, and a single horizontal crease on either palm. Newborns with Down syndrome look like babies who do not have Down syndrome.

About one-third of all children with Down syndrome have congenital hear disease. Many are prone to respitory infections. Many experience visual, hearing or thyroid dysfunction. Greater frequency to leukemia. Greater susceptibility to Alzheimer's Disease.

There is a range of development in children with Down syndrome from severe mental handicap to near normal. Factors influencing this range, in addition to early intervention programs, include the other genes the child inherited from his family, effects of fetal distress or difficult birth, health problems, resulting in low oxygen or prolonged hospitalization for health reasons.

Many children with Down syndrome are performing at levels undreamed of in years past. Young people are graduating from high school with vocational diploma's, many are holding jobs in multi-national companies, in stores and garages. Some excel in sports, some in music and arts receiving worldwide acknowledgment of their talents.

For more info: http://www.cdss.ca

Complete Atrioventricular Canal Defect

This is a brief description of Nathan's heart condition. I will not be going into too much detail or list possible complications, it's just too scary.

The complete form of A-V Canal is the most serious. There is a very large hollow hole between the four chambers. As the heart pumps, blood is ejected everywhere, in no specific direction. There is no differentiation of oxygenated and deoxygenated blood. It is all mixed, in one large chamber, being pumped everywhere. Try to visualize a heart with complete A-V Canal as a hollow ball. If you put oxygenated blood in on one side, and nonoxygenated blood on another side, and then squeeze it, there is no way to keep the blood seperate. All of the blood will mix, and in the heart there in no way to send nonoxygenated blood to the lungs and oxygenated blood to the body. The mixed blood that is sent to the lungs is abnormally high in oxygen, and the blood going to the body is abnormally low in oxygen.

The two valves that normally seperate the upper atria from the lower ventricles are deformed too. Because there is no septum in the center of the heart for the valves to "anchor" onto, the valves fuse and form one common valve. This complicates the blood flow even more. Blood flow through the heart is very specific. In the case of A-V Canal, there is pandemonium and chaos in the direction of the blood flow. To prevent complications with the lungs surgery is performed before the child's first birthday.

Nathan's Beginning...

Nathan was born May 12, 2008. He weighed 8 lbs 9oz, and came into the world screaming. He had the biggest cheeks I've ever seen and purple feet. That is all the glimpse I got of him while they wisked him away to be checked out by the neo-natal doctor.
Prior to being born, during ultra sound, a difference was noticed in little Nathan's heart. One that required a better look by a fetal echocardiogram. Once the echo was done I (Nate's mom) was taken into an office with the cardiologist, a cardiology neo natal nurse and the cardiology departments councellor. Ugh..Right away I knew I wouldn't like what I was about to hear. I was terrified. I found out during this meeting that little Nate was going to be born with a heart defect. He was diagnosed with Complete Atrioventricular Canal Defect. I was also told that this type of heart defect was very common in children with Down Syndrome. I felt like I had been run over by a truck. I was in complete shock. I went through all sorts of feelings during the following several weeks. I was numb, terribly sad, worried, angry, frustrated and overwhelmingly sad again.. I took the time to research little Nate's heart defect. Some of what I found scared me more and some was re-assuring. I was told different stories as to what to expect at birth. One was great, he would be born okay and be able to be with me in my room right away, the other not so good he would be wisked away and be in the NICU at an ajoining hospital.
After little Nate was born and checked over he was handed to my hubby Brian and was brought to visit me. Both Brian and I were able to spend twenty minutes cuddling with him before he was brought to the NICU. It wasn't the worst case senario or the best, it was somewhere in between. Little Nate stayed in the Nicu one night. He was put on oxygen for a little while. Apparently it was due to fluid in his lungs since he came into the world via c-section and not due to his heart. He was brought to the adjoining hospital for an echo and an ekg. It confimed what was previously diagnosed. He was also checked out by the genetics team since there were a few signs of Down Syndrome. Blood tests were taken we were to expect the results the following week. We were left feeling worried and sad yet again. Shortly after all the tests were completed little Nate was allowed to be in the room with me. We were overjoyed that he was doing so well. The next day we were cleared to come home!! Even better news!
Shortly after coming home we received a call from the Genetics department confirming that Nathan had Down Syndrome. We took it very hard at first. It's been very difficult to explain all of what is going on with Nathan to his older siblings. (Kristopher age 10 and Mykaela soon to be 9) We are now coming to terms with little Nate's diagnosis, and are looking into what we can do as parents to give him the brightest future available. It has been two weeks since Nathan's birth and he is doing well so farr. He has us all wrapped around his little finger. He is just that cute. And while sleep is still evasive I wouldn't have it any other way. Little Nathan is a true blessing to this family.