William & Mary 101

I've been really enjoying being able to read so many blogs about families that in one way or another have been influenced by someone with Down syndrome. Many of them have been so educational about Down syndrome and others have included a little bit about their child's medical history. This has inspired me to do a little research and share a little bit about my own children.
The following is from the Down Syndrome Guild of Greater Kansas City:

How may chromosome subtypes are observed in Down syndrome? There are three main types of chromosome abnormalities in Down syndrome: The vast majority of children with Down syndrome (approximately 95 percent) have an extra 21 chromosome. Instead of the normal number of 46 chromosomes in each cell, the individual with Down syndrome has 47 chromosomes. This condition is called trisomy 21.
The second type is called translocation since the extra 21 chromosome is attached or translocated on to another chromosome, usually on chromosome 14, 21 or 22. If translocation is found in a child with Down syndrome, it is important to examine the parents’ chromosomes, since in at least one-third of the cases, a parent may be a carrier of the translocation. This form of chromosome error is found in three to four percent of the individuals with Down syndrome.
Another chromosome problem, called mosaicism, is noted in about one percent of individuals with Down syndrome. In this case, some cells have 47 chromosomes and others have 46 chromosomes. Mosaicism is thought to be the result of an error in cell division soon after conception.

What health concerns are often observed in people with Down syndrome? The child with Down syndrome is in need of the same kind of medical care as any other child. The pediatrician or family physician should provide general health maintenance, immunizations, attend to medical emergencies and offer support and counseling to the family. There are, however, situations when children with Down syndrome need special attention.
Sixty to 80 percent of children with Down syndrome have hearing deficits. Therefore, audiologic assessments at an early age and follow-up hearing tests are indicated. If there is a significant hearing loss, the child should be seen by an ear, nose and throat specialist.
Forty to 45 percent of children with Down syndrome have congenital heart disease. Many of these children will have to undergo cardiac surgery and often will need long term care by a pediatric cardiologist.

At birth both William and Mary had their blood drawn and had a karyotype done. This maps out their chromosomes. In both of their karyotypes was found an extra 21, meaning they both have Trisomy 21 (three of 21). They both fall into the category with approximately 95% of people with Down syndrome, it's called Non-disjunction. As of yet we have not had any genetic counseling or testing done on David or I. At first it didn't seem necessary as we aren't having any more children. I am not ruling out the possibility, though, because I'm interested on how this would affect Ruth and her future.

As to their health. Both of them were born with at least one hole in their heart. William's, at birth, was in between the upper two chambers and was about 2 centimeters in length. By the time he was two it had closed. Mary has two holes, one in between the upper two chambers and one in between the bottom two. Both are classified in the "small" range and are being watch by a cardiologist.

Obviously because William is older he has much more of a medical history. At birth he failed to pass his hearing screens. Every three weeks we would take him back to have it re-checked. Sometimes one would pass and the other would fail, then the next time it was just the opposite. At four months old he had his first set of tubes put in as well as had an ABR, which is a hearing test that he had to be sedated for. Everything went well and the ABR passed, meaning that his ears and brain were working together. After the first set of tubes he seemed to be doing better, becoming a little more verbal. Passing his hearing screens was still hit or miss. When he was 2 1/2 he had another set of tubes put in as well as another ABR, which came back inconclusive (I'm skipping the story on that set of tubes/ABR as I have the song "let us oft speak kind words to each other" running through my head). After the 2nd set we switched doctors. The third set was put in (as well as his tonsils taken out) about a year later with another ABR done. This time the test (ABR) came back the same as the first, he passed! A few months after that third set of tubes we went in for a routine check-up and the tubes were out. A couple of weeks later he received his 4th set of tubes and this time the doctor put in "T" tubes in hopes that they would stay in. So far they are still in and his ears seem to be staying clear. We have really noticed a change in him since those last set were put in. He is so much more verbal and tries to mimic sounds that he hears. Mary passed her hearing screen at birth (we made them repeat it and she still passed) so she has not had any follow-up with an Audiologist or ENT.

So that is us in a nutshell. This experience of blogging everyday has been very rewarding. I've been meeting lots of "e-people" and learning so much in the process. I had no idea how this "blogging world" would open so many things up to me, I feel so blessed.