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.

The Day We Met Our Daughter

There were so many things that were on my mind the few weeks leading up to Jocelyn's birthday. Things like coordinating the bed set with the changing table, getting enough clothes, blankets that match the car seat, a Halloween costume, etc. One thought that never crossed my mind was the possibility of having a child with Down Syndrome. We had a few ultra sounds that never showed any physical signs of Down Syndrome. There were no heart abnormalities detected. She did have renal pelvis' that were on the larger side of normal but they stayed within normal limits and did not require any further evaluation. But due to that, we did decide to get the Quad screen to test for any genetic abnormalities. We were not initially going to get the Quad screen because we had already decided that no matter the results, it would not change our decision about the pregnancy. Due to my age, 24 at the time, the chances of having a child with Down Syndrome was very low. I did it just knowing that sometimes renal problems can sometimes occur when there are other genetic abnormalities and since I am in the medical field, I wanted to be thorough. When we got the results back that were negative, I wasn't surprised. I expected them to be negative. I didn't even think otherwise. My mom works with children with disabilities. I have been around kids with disabilities all of my life. I grew up with a couple of kids with disabilities that my mom would care for on occasions. It always seemed like other families had children with disabilities, not mine. The day that she was born, I was induced. We were so excited to finally meet her. It is not that I need to be induced for any medical reasons, but I just was tired of waiting. I had to meet her. My labor was very uneventful and progressed very quickly. After only 5 hours of labor, our baby girl was born. Immediately, she came out screaming and was doing great. Her apgar scores were 8 and 9. They gave her to me and she immediately started nursing like she had been doing it for years. I remember looking at her and thinking that her eyes did look kind of like a down's child. However, just figured it was due to being puffy from the delivery. I didn't even give it a second thought. Then, as the nurse kept doing her assessments, she noticed that her O2 sats kept dropping. She told me that she was going to have her checked out and took her out of the room. I didn't see her for the rest of the day. I was still in denial at that point that anything was wrong. They had said that since the delivery was so quick that she did swallow a lot of fluid and I just chalked it up to that. About an hour or so later, the OB and nursing staff came back in. That is when they changed my life forever. They stated that it appears that she has some characteristics of a child with down syndrome. I just remember hating the fact that they kept saying that she had characteristics. No one ever said, "yes, we are pretty sure she has it." As if some people just have those characteristics but do not actually have the diagnosis. They stated all of them to me but yet they still said there is a chance that she didn't have it. Being that I am in medicine, I know when people are skirting around the issue. Most of the time, we know the answers to a lot of issues before we get the official results. It was almost like they tried to give us some sense of encouragement that the test may come back negative. When, we all knew that they would be positive. Three days after she was born, we got the FISH tests back that were positive for trisomy 21. I immediately broke down. I am not sure why, I guess I still was hanging on to some tiny chance that everyone was wrong. I guess it was just hard finally hearing the diagnosis. They said that due to her low tone, she was having a hard time keeping her air way open. It was only positional. She did have an elevated white count which after a week of CBC's and blood smears, they still didn't have an answer to. So she was treated empirically for 7 days with anti-biotics. Initially to give her nourishment, they placed a NG tube because she was having a hard time taking to a bottle but was fine with nursing. However, my milk was not in to give her enough nutrition. After a few days of practice, she got the bottle feeding down and the NG tube was removed. The last few days were mainly spent in our room, out of the ICU. The day that we brought her home was pretty nerve racking. We still needed to keep her elevated when laying down to help keep her air way open. However, over the next couple of weeks, as she got stronger and bigger, she was able to adjust and breath normally. It took a couple of weeks of to finally accept the fact that she was born with Down Syndrome. I kept telling myself that they were still wrong even though we got the FISH test back which was positive. I still held out hope until we saw the geneticists. For the first two weeks, I would just break down in tears grieving for all the things that she may not experience. I felt sorry for her and our family. It was a very difficult thing to understand. I kept having to tell myself that God gave us this little girl because he knew we were strong enough to take care of her and we had the means as well. One of the most difficult things for me was trying to tell our friends and family about it. It was not like I was embarrassed or ashamed of Jocelyn. I was just having a hard time coming to terms with it that it was difficult to say. "Jocelyn was born with Down Sydrome" were the hardest words for me to say. Even today, it takes me a second. Thankfully, my family was very supportive, as well as Alex, and they were able to let people know so that I didn't have to worry about breaking down every time I talked to someone. After a week or so, I began looking past the diagnosis and began to see a beautiful healthy baby girl. She was just like all other new born babies. Now a days, I have no problem discussing Jocelyn and her diagnosis with anyone. She is a beautiful little girl first who just happens to have a syndrome. I have realized it is nothing that we need to hide. We embrace it and move on. While we may never know how or why this happened, we would not begin to change a thing. We are happy that she is happy and healthy.