Caroline Christina Chapman
Born: November 16, 1999
Diagnosed: August 8, 2001
Place: Maryland, USA
This is the story of Caroline. I was 32 years old when Caroline was born. I was also told I had too much amniotic fluid - but that is wasn't anything to worry about. I was measuring larger than normal too, but they just said I was going to have a big baby. At my eighth month check-up I had started to get high blood pressure . My doctor told me to go on bed rest and to quit working. I still had a month to go in my pregnancy but that night my water broke out of the blue and I went into labor.
Caroline was born after 17 hours of labor using forceps. She was 7 lbs, 15 ounces so she was large for being premature. She went to the NICU because I had meconium in the amniotic fluid and she had to be suctioned out really well. We believed her to be a normal baby girl.
The next day a house pediatrician examined her because my regular pediatrician was ill. He told us he suspected that she had a genetic disorder, probably Downs, but we should see a specialist. He named so many dysmorphic features it is hard to remember, such as low tone, low set ears, high palate, heart murmur, her baby toe curled under, eyes wide set, anus too close to her vagina, - so many little things it is impossible to list!! It was like he picked our little girl to pieces and didn't even care. She was perfect to us and to hear all this was such a shock. This doctor had NO bedside manner at all. In fact, he told me my child might be retarded in front of my mother-in-law, grandmother, sister-in-law and my young niece and nephew - but that is another story. Anyway, that started a long bout of testing, etc. Her heart murmur was just something related to being premature and that corrected itself. They thought something was wrong with her kidney, but that turned out to be nothing. All genetic blood tests came back normal and after about a month we just thought everything was a big mistake. We saw a genetic specialist and he said all her defects were familial and that he was concerned about her low tone, but that he didn't feel she had a genetic disorder.
Fast-forward a year. I had always believed something was wrong with Caroline. She just wasn't very responsive and was not meeting the normal developmental milestones. She did sit up on her own at around 7 months, but only when you put her in that position. She has always had strong trunk muscles. She was a good eater and healthy. At her normal doctor's visits he would always reassure me that she was just a big baby and big babies took longer to hit their milestones. After a year of this we decided it was time to start physical therapy - the doctor was starting to become concerned. We started PT, OT and speech in December 2000. We still had no known diagnosis.
We had every test done known to mankind - as I am sure all of you know. I felt I couldn't really even enjoy my child because every week I was running from specialist to specialist, therapist to therapist. She had hearing tests, MRI's, blood tests, sonograms, everything you could think of she has had. She also has astigmatism and needs to wear glasses (of course she won't keep them on her face). We went to the best specialists at Johns Hopkins Hospital & Kennedy Krieger and I was told it was probably genetic, but that there are so many things that are not even discovered yet, it was possible we would never find out what was wrong. Everyone was stumped.
I started searching the internet for her symptoms and thought she might have benign hypotonia. I also started researching every genetic disorder I could find. My sister-in-law was also researching and had an old genetic textbook that a doctor had discarded. She found Pallister Killian and mentioned it to me. My daughter had a very odd hair pattern and that was one of the symptoms. I had also researched PKS and didn't believe that was what she had due to the severity and rarity of the disorder. I had also begun to notice dark patches on her legs. On our next genetic visit I brought up PKS and a few other syndromes such as Prader-Willy. They told me to stop researching and leave it to them, because I would drive myself nuts. They looked up PKS and said that her face sort of resembled the one in the textbook and that skin pigmentation was a symptom, but PKS only shows up in skin cells. They took a biopsy and in a week we had the results - it was PKS.
Caroline has made many strides with all her therapies. She started to crawl at 2 *, she is still not walking, but can take a few steps with a walker (if she wants to). She is a very happy, laid back girl. She has a mind of her own and is very stubborn at times too. She plays by herself for hours and keeps herself entertained. She was actually a very easy, content baby. Sometimes she seems to be in a world of her own. She was very obsessed with her hands and everyone's hands in general from about 5 months on. She would always stare at them and when she got upset she would just stare at her hand, she just recently stopped doing that habit. She has always eaten anything we would give her. She can finger feed herself, but not use utensils. She just started using a sip cup.
She doesn't talk, but does babble and have conversations with herself and us. She is now obsessed with looking in the mirror and talking to herself. She seems to get obsessed with certain objects. She loves books and musical things. She looks at books, newspapers, etc and you would swear she could read. She never really took to any toys when she was younger. She always preferred human faces or hands. The therapists would try to get her to play with toys, but she just wanted to play with their hands. She is getting much more social and we know what she wants with her cries or grunts, but not any talking. She also loves pens and pretends to write. She can't really bear down hard enough for crayons yet. She is just a big, lovable, huggable baby. She is always hugging you and she pats you on the back when you are holding her. She is the sweetest little girl you ever met. She can melt your heart with her eyes. She has big beautiful green eyes with the longest eyelashes you ever saw.
We are very uncertain about what the future will hold for Caroline and that is the depressing part. Hopefully more people come out of the woodwork or more research is done to find out a prognosis. The syndrome seems to have so many degrees of severity. Our geneticist thinks a lot more people have the syndrome but have never been diagnosed correctly.
------- Updated on February 2004 -------- Well it took 4 years and 2 months but Caroline is finally independently walking!! She is walking more and more everyday. I think she is in competition with her baby brother who started walking in December.
She still does not talk but does seem to understand more and more things on a daily basis. She makes a lot of different sounds but no words. She is still not feeding herself with untensils, but is experimenting with them, so hopefully someday soon. She is getting more and more independent everyday.
Caroline is definitely one in a million, figuratively and literally as I am sure you all know about your "special" children.
If you have any questions, feel free to contact us.
Debbie and Mark Chapman mailto: deb.chapman@jhu.edu.
