Three times! Poor boy! On Monday we took Wade to see his pediatrician. It was just his normal 2-month checkup. I was impressed by the nurse who gave him his shots. She got all 3 syringes lined up, band-aids ready, told Karen to hold him down, and wham, wham, wham she was finished! I honestly think it only took 3 or 4 seconds from start to finish. No. The third shot was not in his belly button. Dr. Jones just put some silver nitrate on his belly.
What are chromosomes? Our chromosomes contain the genetic code which controls and instructs cell division, growth, and function. They are the structures inside the nucleus of living cells that contain hereditary information. A person normally has 46 chromosomes, 23 inherited from each parent. Every person has a unique genetic code (with the exception of identical twins). It is this uniqueness which makes the physical appearance of each person different. How do we get our chromosomes?Our chromosomes are given to us by our parents. Each parent gives us 23 chromosomes which come from the egg and sperm cells. When they combine, they produce a cell with 46 chromosomes. This cell then divides, the result being that every cell contains identical genetic material. What is Down syndrome?Down syndrome is caused by a person having three copies of chromosome 21 instead of two copies. This is why Down syndrome is also referred to by the name Trisomy 21. Instead of a pair of chromosomes, as is found in all the other chromosomes, number 21 includes three chromosomes. It is important to understand that all of the chromosomes of this person are normal. It is the fact that there is an extra chromosome that causes Down syndrome. Every cell in a person with Down syndrome will contain 47 chromosomes (with the exception of Mosaic Down syndrome which is discussed below) instead of 46 chromosomes. There are many theories about how the extra chromosome causes the effects of Down syndrome but little is currently known. Research, however, is continuing and a breakthrough may provide possible treatments to lessen the effects. How does this happen?During cell division to create a germ cell (either sperm or egg), a cell containing 46 chromosomes divides into two germ cells each containing 23 chromosomes. Sometimes this division does not happen properly and one cell may contain 22 chromosomes and the other may contain 24 chromosomes. This can happen if the chromosomes do not properly separate and instead "stick together." This is called nondisjunction because the chromosomes have failed to disjoin or split-up. 75% of the time it is the egg cell which carries the additional chromosomal material, 25% of the time it is the sperm cell. If the cell containing 24 chromosomes combines with a cell containing 23 chromosomes, the new cell will contain 47 chromosomes instead of 46. If the trisomy is chromosome 21, the person will have Down syndrome. Other conditions arise if the duplicated chromosome is a different chromosome. If the trisomy is chromosome 13, the person will have Patau's syndrome. If the trisomy is chromosome 18, the person will have Edward's syndrome. These conditions are rarer than Down syndrome and have their own characteristics which are different than Down syndrome. Are there different types of Down syndrome? There are three different types of Down syndrome: Standard Trisomy 21, Translocation, and Mosaicism. Standard Trisomy 21 is when the extra chromosome 21 comes from either the egg or sperm cell. Between 90% and 95% of all Down syndrome is Standard Trisomy 21. Translocation is caused when a piece of chromosome 21 is located on another chromosome such as chromosome 14. The person with Translocation Trisomy 21 will have 46 chromosomes but will have the genetic material of 47 chromosomes. The person with Translocation Trisomy 21 will exhibit all the same characteristics of a person with Standard Trisomy 21 since they have three copies of chromosome 21. Translocation occurs between 3% and 5% of cases of Down syndrome. Mosaicism is when a person has a mix of cells, some containing 46 chromosomes and some containing 47 chromosomes. This occurs either because: a) The person received 46 chromosomes at fertilization but somewhere during early cell division the chromosome 21 cell pairs failed to split creating a cell with 47 chromosomes and a cell with 45 chromosomes. The cell with 45 chromosomes can not survive but the cell with 47 chromosomes will continue to divide. All cells that come from this cell will contain 47 chromosomes. b) The person received 47 chromosomes at fertilization but later during cell division the extra chromosome is lost. Mosaicism occurs in 2% to 5% of cases of Down syndrome. A person with Mosaic Down syndrome may exhibit all, some, or none of the characteristics of Down syndrome depending on the percent of cells carrying the extra chromosome and where these cells are located. I copied all of the above from http://www.downsyn.com/whatisds.html Wade does have Trisomy 21.
Today we took Wade back to his EN&T specialist, Dr. Vickery. Since our last visit, Wade has been on a round of antibiotics to try to clear up the fluid that was in his ears. It must have worked because Dr. Vickery said he couldn't see any fluid.
They tested each ear three times. The last time that was done, the tests showed normal hearing at certain frequencies but not at others. This time they said the tests were all varied and showing different results with each test.
Dr. Vickery is going to send us back to University Hospital Hearing Center where they have the capability to perform a more advanced test called a "BERA".
Brainstem evoked response audiometry (BERA or ABR) involves sophisticated, computerized equipment. Sounds are placed in the ear, and the brainstem's response is recorded from electrodes (similar to electrocardiogram electrodes) that are taped to the patient's head. This testing is extremely helpful in: Distinguishing sensory (inner ear) from neural (nerve) causes of hearing loss Helping to localize problems in the brainstem auditory pathway
Determining the ability to hear soft sounds, in selected cases
To do this test, the baby has to be sleeping soundly. If the baby cannot be tested while asleep, then he must be sedated with oral medicine or in some cases even anesthesia. We will probably make an attempt at scheduling Wade's appointment at naptime, but we don't have much faith in his ability to sleep through the test. He doesn't like having objects inserted in his ears.
Wade has really started smiling at us this week, although I haven't been able to catch it with the camera yet.
Dr. Laverne Miller expounded on various medical issues
This past weekend we were at Hartwell, GA for the annual Southern Mennonite Fellowship Meetings. For the last 7 years, I have been taking my sound and recording gear up and taking care of the live sound as well as recording and selling tapes and CDs of the messages.
Hartwell is about 2 hrs. northwest of here. We went up Friday at noon. I spent all afternoon setting up my equipment in time for the first evening session. Then 3 sessions on Sat with a terrific barbequed pork supper, followed by 2 more sessions on Sunday. Then I packed up my stuff and we got home about 7PM Sunday evening.
A very enjoyable weekend. We enjoyed seeing friends from all over the southeast that we don't get to see very often.
Individuals with Disabilities Education Improvement Act of 2004 (IDEA), is a national law that works to improve results for infants, toddlers, children and youth with disabilities.
President Bush signed the Individuals with Disabilities Education Improvement Act, which reauthorized the Individuals with Disabilities Education Act (IDEA), on December 3, 2004.
Babies Can't Wait (BCW) is Georgia's statewide interagency service delivery system for infants and toddlers with developmental delays or disabilities and their families.
When Wade was 1 month old, we had our first meeting with someone from the BCW program. A lady came out to the house and started what they call the "Intake Process". Basically just asked a lot of questions about how Wade was doing and discussed with us what all the BCW program involved.
BCW works with children from birth through 3 years of age. Early intervention programs can take many different forms and can include a wide variety of services and professionals, depending on the child’s needs.
Today we were visited by 2 ladies from BCW. One was an Occupational Therapist, the other was an Infant Educator. They held & played with Wade to evaluate how well he is doing in various areas such as muscle tone, orthopedics, eye tracking, etc. They felt like he is doing quite well and is not exhibiting a lot of the troublesome symptoms that are quite common with Down Syndrome.
One problem area with a lot of people with Down Syndrome is an overall low muscle tone and increased looseness of the ligaments between the bones. This often leads to orthopedic problems after infancy.
Wade seems to have good strong muscles. He kicks and pushes hard with his feet. Squeezes tight with his fingers, and he is feeding good and sucks well on his pacifier. These are all great signs.