Heather and Ken's Story

Ken carries a balanced translocation between chromosome 5 and 8, and they have two lovely little girls, one with Cri du Chat syndrome (5p-) and the other with partial trisomy of chromosome 5 (5p+) read on........


Ken, Heather, Kennedy and Madison


On August 31, 1995 I gave birth to a beautiful little girl, Madison Rose. Madison weighed 4 lbs 12 oz and was 15 1/4 inches long.Her size did not seem to alarm anyone seeming that she appeared to be healthy otherwise- until day 3. Ken and I were planning to carry our new cargo home when our plans were suddenly abrupted by a visit from Madison's pediatrician. He had began to notice some things were a little different about Madison and because of an infection around her navel admitted her into Neonatal Intensive Care. The doctors concerns were, of course, her infection and then list went on to include her size, her small head, poor suck, and high pitched cry, ect... Immediately, many different doctors came to examine Madison and perform many test which included a chromosome analysis. At 5 days my little angel was diagnosed with Cri du Chat Syndrome. Like most of us, we had no idea what any of this meant. Unfortunately, the doctors didn't either. They gave us that grime horror story we all get in the beginning. Holding together Ken and I went the next day to have our blood work done for chromosome analysis. Tests came back to show that Ken has a balanced translocation between his 5 and 8 chromosome. Life continued on as normal as possible knowing that we had a beautiful little girl to take care of. Madison stayed in the NICU for 8 days and then we brought her home. We are very fortunate in that she has not had any of the major medical problems often associated with CDC. Madison is now 4 and we are very proud of her. She began to walk at age 3 and has a small vocabulary of sign language. As of yet, she has not said any words. She just completed a thorough evaluation using the Batelle system and her composite age was only 11 months. We try not to let this discourage us because we know that she is progressing on her own scale.


Madison and her friend Missy

During the month of May 1998, we found out we were expecting another child. We chose to have a CVS done to confirm what we thought was going to be a normal pregnancy. It was the early part of June that we learned through the CVS that we were going tohave another special child but not one with CDC. This time our baby had partial trisomy 5p which is a duplication of chromsome 5 rather than a deletion. This was not what we expected at all! To make things a little more difficult there was not any up to date information to be found on this disorder. Our geneticist gave us a horrible prognosis. He felt that if the baby even made it through the pregnancy that "she" would not live to be 2 years old and would spend most of that time hospitalized. Although Ken and I had made the decision before the test that we would continue the pregnancy regardless, I was quickly confused and had no idea what was the right thing to do. The geneticist encouraged teminating the pregnancy which even made things more difficult. After the shock settled I knew I had to continue the pregnancy. I knew God would carry us through. I had many, many ulra-sounds throughout the pregnancy and they were all normal, however, the geneticist still would not give us much hope. Kennedy Jane arrived December 22, 1998 a healthy 6 lb baby girl. They put her in the NICU for observance not sure of what might happen. Two days later Kennedy and I came home and have not returned to the hospital. She is nearly 17 months now and developing wonderfully. She is delayed but is progressing much faster than Madison. She is not walking yet but can defiantley move on those knees! She can say the "dada" and "baba" sounds. Her therapist feel she will develop speech but just at a slower rate than the norm. Our life gets quite hectic carrying two babies back and forth to therapy, doctors, ect.... but they worth every moment. We have been truly blessed with these two angels. Times get tough and I sometimes wonder why but I always find the same answer.... God has a purpose for each and every one of our lives and I am glad he chose me to care for these two special girls.


Kennedy's first birthday

Please feel free to contact us for any questions you may have or if you just need support. We love to hear from other families.
 
Ken and Heather R
madisonr@netdoor.com

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