How we would have loved to talk to someone who had been through this when Antonia was younger!
It's a long story. She is the apple of my eye, and has been since the day she was born. She has had a terrific personality and a great sense of humor since she was very tiny, and has always loved music.
She was initially diagnosed with Cornelia de Lange syndrome, but was re-diagnosed with RTS at about 5 years old, soon after we came to Dallas.
She has the classic broad thumbs and great toes, "pixie" face, unusual palate and many other RTS symptoms. Antonia started making rudimentary sounds fairly early, but never developed normal speech, although she can make her needs understood to us and others who know her and are prepared to be patient. She has a large received vocabulary i.e., she understands virtually everything you say, and knows (and gets mad) when you are talking about her. You can tell when she doesn't understand something, because she just gives you a blank smile. She also has excellent (in fact, hypersensitive) hearing, which causes problems in two ways: first, we have to have the TV in the game room, because she can hear it in her room from the lounge (we have an open-plan house), and second, she suffers physical pain from loud noises like road repair equipment, where there is a lot of low-frequency energy. She has been reading simple books recently, but hasn't had a lot of interest in reading for its own sake. She would rather listen to music.
She has over 100 CD's, probably two or three times that many tapes and about 150 video tapes. You can play or sing just about any tune at random, and she will pull the CD and click forward to the right track immediately. Same thing with tapes, which is even more amazing, because the only clue is how long to fast forward! She has had this ability since she was 5 or 6 years old.
She can also figure out just about any kind of TV or stereo, as long as the controls are on the front of the set. I'm not sure if she doesn't understand how to use a remote, or if she just doesn't see the point, as most of what she does involves changing the media, which you can't do with the remote.
Antonia has had her share of medical problems. She had sleep apnea when she was tiny and had to have her tonsils and adenoids out, which cured the problem. She has had irritable bowel syndrome, with severe colic as an infant. We discovered recently that she had lactose intolerance and insufficient digestive enzymes, so we have cut out dairy products and added digestive enzymes.
Her eyes were another area of concern. We discovered when she was about 3 that she was very short-sighted (she has about -11 myopia in each eye.) She also had a strabismus (lazy eye/strabismus) which was corrected by day surgery. She always had an unusual gait, and we discovered when she was about nine that her knees were not fully developed. The kneecaps are supposed to migrate to the front of the legs during development, but Antonia's had not completed their journey and as a result became dislocated - painfully - whenever she tried to climb stairs. We spent the next several years trying to find a doctor that could do something about this problem and around 1989 came across Dr. Walter Bobechko at Medical City, Dallas. He reconstructed her left knee that year and the right knee a year later. The procedure involves taking the entire kneecap structure from the side of the leg, including a v-shaped section of muscle, and moving it to the front of the leg. He also took a tendon (one of many) from the back of the leg, and used it as a guy wire to hold the kneecap in position. We were told by other doctors that without surgery she would almost certainly develop arthritis in the knees and be confined to a wheelchair by the age of eighteen. We have recommended other parents to Dr. Bobechko and both the ones we know about have been successful. By the way, although she had a full cast on her leg, she crawled to our room the first night home from the hospital, and was on her feet unassisted within a couple of days. She literally took the whole thing in her stride. We have had a lot of test done for chemical imbalances over the years, and have been giving Antonia mega-doses of vitamins and minerals and also amino-acid replacement therapy. These have brought about great improvements in her awareness and physical and mental performance. She has been having regular OT and PT since she left school three years ago (our choice) and we have seen great progress in here sense of balance and general awareness and control of her own body. Unfortunately, there was a mix-up in her amino-acid prescriptions about three years ago, and the labels for the Taurine and Tyrosine were switched. As a result of this, we think, she had a grand mal epileptic seizure. She had another a couple of days later, and was diagnosed with seizure activity. She was prescribed a number of different medications, but we eventually settled on Depakote, and she has only suffered occasional mild twitching (in her sleep) since then. She was toilet trained fairly early on, but needed a diaper at night until about two years ago, when we discovered the Sears bed-wetting alarm. We had about two weeks of sleepless nights, but she responded to the exercise and has been dry at night consistently since then.
You come to regard little things like this as miracles, by the way. Like when we first realized she knew the difference between yes and no; the first time she cried for emotional reasons; the time I had to be hospitalized for three weeks and she was beside herself with woe. All of these kids have different abilities and ranges of ability, but none of them are going to grow up to be normal adults.
My own feeling is, do the best you can with what you and your child have, and you will enjoy enormous satisfaction from the tiniest step forward. Also, from my experience with Antonia and the other the RTS kids I've met, they are just a joy to have around. One thing I have noticed is how much more I appreciate so many things we take for granted in the human machine, and how difficult they really are. Things like learning to walk, learning to talk, hand-eye coordination, doing just about anything while you're walking, memory. In fact, just about any of the things we watch our kids learn in that kind of slow-motion way, with every step learned from first principles.
Best wishes, David
Contact: David de Jongh ddejongh[at-sign]worldnet.att.net