All the appointments and meetings

Kids born with Down Syndrome often have numerous health related problems. Many have heart defects, problems with their vision, hearing, thyroid function, muscle tone, feeding and more. Jocelyn's first 2 months of life seemed like a never ending doctor's appointments. Although it was very expensive, there is nothing like getting the news that your daughter is perfectly healthy and growing right on track. She has had an US of her heart which was negative. She has had blood work for her thyroid function which was okay. We have seen an opthamologist and had a hearing screening. She has even had a hip US to rule out congenital hip displasia. At her routine doctor visits, at 2 months, she was in the 77% for weight and 81% for height for typical. On the Down Syndrome growth chart, she is off the chart. Well above the 90th percentile. She is growing like a weed. Kids with Down Syndrome tend to be more on the over weight side. So as long as she is growing height wise as well as weight, we are heading in the right direction. I mean, look at her dad, I think she is going to be more on the tall side. She has her next follow up appointment on February 10. I can't wait to see how much she has grown.





Shortly after she came home from the hospital, we were set up with our Family Service Coordinator with Johnson County Infant/Toddler services. Since my mom works as the director of family services for a similar agency in NW Kansas, she was familiar with all the steps we needed to do to get set up with support. We met our Service Coordinator, Bev, who set us up with our Occupational Therapist, Diedre. We have been meeting with her every other week to work on developmental skills like visual tracking, head control, and learning how to sit up. Kids with Down Syndrome tend to reach certain milestones developmentally, such as crawling, walking and speech, slower than typical kids. They tend to take a little bit more time reaching certain goals due to their low tone, but eventually will catch up. Jocelyn is making great improvements every week. She is not behind developmentally at all right now. And since Diedre is very proactive, I look for her to continue to develop along with her typical peers.





About a month after Jocelyn was born, we went to a geneticists to discuss the results of her chromosome study. Her study revealed that she has what is called Robertsonian Translocation of the 21st chromosome. This is a pretty rare form of Down Syndrome. Only 4% of people with Down Syndrome have this type. This is where one copy of the 21st chr. attaches itself to the other copy. Then when the cell goes to divide, the 21st chr. with two copies does not get divided. When the 21st is combined with the other person's 21st chr. you get 3 copies of it. This also means, that this type can be inherited. If one of the parents is a carrier of the translocation, there would be 100% chance that our next child would have Down Syndrome as well. So when we met with the geneticist, they made it clear that it was very important for Alex and I to get our chromosome study performed so that we could make decisions about having more children in the future. We had our blood work done and after 4 weeks of waiting on pins and needles, both of ours came back normal. So this means that our chances of having another child with Down Syndrome is 1%, just like a person who had non disjunction type of Down Syndrome. Our chances before Jocelyn was born for someone my age was 1 in 1500. Now, it is 1 in 100. We were really glad to have some answers but it still makes us kind of hesitant about having more children. We have the option of invitro fertilization where they can look at each gamate and see make sure they have the correct number. Or, we can let nature take its course again. Alex and I talk about this a lot. I think we will eventually have more children but not until Jocelyn is at least 4. I am sure that Jocelyn would love to have a little brother or sister to run around with. She will begin school at 3 and we would like for her to get started with that before we add more chaos to the picture.

So, as you can see, we have had a busy couple of months. But knowing that Jocelyn is perfectly healthy and happy is worth all the hassle and money. She continues to work with our OT every other week and we will have a new Individual Family Service Plan (IFSP) in April when she is 6 months to address any new issues that may have come up. Also, on April 1st, we will be going to the Down Syndrome Clinic at Children's Mercy Hospital. You meet with them one day a year to talk to specialists including ENT's, nutritionist, developmental therapists, etc. She will also have her hearing tested again as well as some blood work. It is just a great opportunity to make sure that she continues to stay healthy. We will let you know how that goes as well.