MOSAIC MOMENTS

When Carmen told me her story of her little girl Sydney and all the struggles she went through with her obstetricians during her pregnancy, I found myself continually shaking my head in frustration for her. I have to wonder if what doctors actually listened to Brian Skotko’s report  on the extensive research he did for parents of children with Down syndrome in 2005. The main message? Give parents positive, accurate, supportive information and then let them make their own decisions.

Thankfully, now with the Prenatally and Postnatally Diagnosed Conditions Awareness Act on its way to law, we will hopefully move forward in this mission.

Another part of Carmen’s story that made me shake my head in frustration was her battle to get a proper diagnosis. Carmen is just another one of our “statistics” that add to the 15% of those misdiagnosed with Down syndrome when they actually have mosaic Down syndrome. The doctors tend to argue with the parents for this actual diagnosis. Their stance “Down syndrome is Down syndrome”. However, there are as many differences as there are similarities and even if there were not, it is the parent’s right to have a true diagnosis.

Join me today as we learn about Sydney Jade. She is a beautiful little girl that will surely melt your heart!

Sydney Jade was born on November 22, 2006 weighing 8 lbs 1 ounce and measuring 21 inches long. She entered the world one day before Thanksgiving. My actual due date was November 14th. However, it seems as though it was no coincidence that she decided to arrive the day before we give thanks because she has given us many more reasons to be thankful.

I was 35 when I was pregnant and due to my age the doctors were constantly warning me about my increased chances of having a child with Down syndrome. I felt as though they were constantly warning me and making me feel guilty for being pregnant at such an “advanced age” as they referred to it. Despite the doctors fears, her father and I had decided we were already in love with our child and we were looking forward to having her in our life. After feeling pressured by my OB/GYN I decided to have the triple screen testdone. My doctor later called and explained to me that my results indicated that I had an increased risk for having a child with Down syndrome and urged me to have an amnio. She said the amnio was the only test that could tell us for sure whether or not our child had a chromosomal abnormality. She also explained that having the amnio early would give me the option to terminate if the results showed an abnormality. I remember thinking “Is she out of her mind?” I felt this way because I knew I would love my child no matter what and I knew that God would not give me more than I could handle. So I decided at that time (16 weeks) not to have an amnio. 

In later weeks I had the routine ultrasound. After the procedure my doctor explained that the ultrasound showed that Sydney’s kidneys were somewhat enlarged. She explained that this was a “marker” for Down syndrome. Once again, my doctor urged me to have an amnio and I refused. As the weeks went on my doctor ordered me to have 3 additional ultrasounds to track the kidney growth. Each of them also showed that the her kidneys were still enlarged. My doctor then sent me for a level II ultrasound. The perinatologist that read the results explained to me that she saw 3 “markers” for Down syndrome which included the enlarged kidneys, bright spot on her heart, and short femurs. While explaining the results she was not very empathetic or compassionate. She was actually rather rude and acted as though I was doomed for having these results. I began to tear up in her office  because I just felt like none of the doctors had been very nice to me at this point. It was almost like they were handing my child a death sentence. At that point I was 32 weeks along and I felt that all of the doctors involved with my care were stressing me out. They were not very optimistic at all. In my stressed out state that day I decided to finally do the amnio just so I would know for sure if there was anything wrong with my baby. I felt in my heart that it would be negative for Down syndrome and that they would finally leave me alone. Well..I was wrong. The amnio result came back positive for Down syndrome and my doctor called me into her office to share the news. At this point, she acted as if my life was going to be over. She even suggested that I could choose to allow Sydney to die if there were complications during my delivery. I was in shock and cried tears of disbelief.

I will admit that when my fiance and I first found out the news that our daughter had Down syndrome we were both devastated. We began feeling sorry for ourselves. We wondered “why us.” We knew we would love her no matter what but we were scared of the unknown. We also felt very alone and unsupported by the doctors. We were not given any positive information about Down syndrome. We were just given a pamphlet and told that we could call our local support group.

When I left the doctors office I began to do my own research about Down syndrome.

Based on what I had read, I decided to hope for the best but be prepared for the worst possible outcome. However, I knew that we would be fine no matter what. It was through my Internet research that I learned about the 3 types of Down syndrome. I remember looking at my amnio result and realizing that something was not right. My amnio result contained a statement from the lab that read something like. ”An extra copy of chromosome 21 was found on most cells examined, however, some of the cells examined did not contain the extra chromosome, this is best explained as the extra chromosomes on those cells must have been lost during the testing.” I kept reading that statement over and over and I knew in my gut that something was just not right about it. I felt in my heart that the real explanation was that my child probably had the Mosaic type of Down syndrome. However, I knew I could not confirm anything until she was born.

Well…I went into pre-term labor at 30 weeks. My contractions were stopped with the drug terbutaline. I was put on bed rest for the next 6 weeks. I just knew that I would deliver early. But after stopping the medicine Sydney decided she wanted to take her time to make her debut. I was actually induced at 41 weeks. In a matter of less than 24 hours we finally got to meet our little girl. Upon her arrival she was examined by neonatologists who explained to us that she did appear to have Down syndrome because she had the appearance in her eyes. She had great APGAR scores and appeared to be in great health so she came with me to the postpartum room. We were blessed in that Sydney was born with no major medical problems. She also did not have any other physical features of Down syndrome except for her eyes.

In the first few months of her life people were surprised when we told them Sydney had Down syndrome. Even her first pediatrician did not seem to understand the diagnosis. I kept asking her first pediatrician if we could have Sydney’s blood tested to determine the type of Down syndrome that Sydney had and she refused to write the order for the testing. Her exact explanation for this was ”It doesn’t matter Downs is Downs just know that she will be delayed.” We later fired that pediatrician. When we began seeing the new pediatrician we finally had Sydney’s blood tested when she was 15 months old and we found out that indeed she did have mosaic Down syndrome at about 15%. That is when I found the IMDSA and the yahoo support group. I am slowly learning the differences between the different types of Down syndrome. The support groups have helped me tremendously. 

Sydney is now 22 months old and is doing great! She does have low muscle tone and a speech delay. She also has some hearing difficulties in her right ear which we are awaiting testing to confirm. She started walking at 19 months and now she is running all over the place. She has beautiful slanted eyes and the best smile ever. My description does not do her justice. Her personality is amazing. She touches the hearts of people each and every day. She has truly given us many reasons to be thankful. I still cannot believe the doctors were so afraid of what a diagnosis of Down syndrome would bring.

I feel truly blessed to have Sydney in my life. I cannot imagine my life without her.

Just looking at this wonderful pictures and Sydney Jade’s great smile I can imagine that anyone who has the privilege to be around her can’t help but to feel happy as well as blessed!

editors note: There are actually four types of Down syndrome, however IMDSA is the only organization to recognize these types. To learn more about mosaic Down syndrome, please visit IMDSA’s website.

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