May 31, 1999

My grandchild, Tyler, hasn't had a "real" diagnosis yet, but from what we have read, we're convinced he has this syndrome. The geneticist at UCLA suggested he had some of the Noonan symptoms, and we have taken it from there.

When Tyler was born, 5/22/96, caesarian, after a very long and difficult labor, the doctors seemed to think he was severely brain damaged. They suggested that he may be "blind, deaf and mentally retarded and probably suffer from some neurological disorder". Because of the heart decelerations during labor, we suspected all of this could be true and were so heartbroken and angry with the medical staff. They kept him in intensive care for 2 weeks, because he did not have a good "sucking" reflex. With prodding, he took some nipple, but was primarily fed by tube. He had no digestive problems, like many of the NS children I've read about, in fact, he rarely (if ever) spit up. After 2 weeks, and only questions regarding his health, he was sent home. His parents continued to encourage him to eat/suck, and I believe they set an alarm to insure he ate often.

He proved to be an "angel" of a baby, which added to our concerns. We felt babies should cry more often, are demanding, etc. Sunlight disturbed him; he didn't open his eyes outdoors for months. My daughter discovered his high palate, which she felt was the reason he didn't have a pronounced sucking reflex. My daughter had the same thing as a child, and she wasn't a good "nurser" either, but in my day, people didn't seem to worry about such things, and I just fed her more often.

As Tyler grew older, it became obvious that he wasn't progressing like a "normal" baby, though he was progressing. Obtaining the necessary tests was a nightmare for my daughter. It took 20 months for her to gain approval for the necessary tests and admission into the UCLA system.

He has had a MRI, and thankfully has no brain damage, though he does have cysts on the outer layer of his brain. These may go away, or if they grow, they will be shunted. These cysts "may" interfere with his motor and speech development. He seems to "space out" once in a while, and they may be responsible for that.

He had eye surgery, to correct a "lazy" eye. It was not 100% successful, so he continued wearing a patch 3 hours a day for at least 6 months. He was also was referred to an "Eye Therapist", who submitted the paper work, but it was not approved. They felt it might improve on its own and it did. They played the "I see you game" through anything that had a hole in it.

Tyler has been in Physical Therapy one hour per week since he was 2. My daughter observed and tried to duplicate the exercises the rest of the week. He has walked since 18 months, and probably could have done so sooner, but he is EXTREMELY cautious! He began standing up in the middle of the room and crawling at about 2 1/2. The therapist said he had poor muscle tone. After one year of therapy (at 3) he was considered strong, with excellent muscle tone, but performing gross motor skills at about an 18 month level. The wonderful news is that his fine motor skills were evaluated at a 4-year level. He also started Speech Therapy at two. His therapist claimed he was very bright (which his parents asserted for months) but he was delayed verbally. He was very good at sign language, which even I understood. At three he sais a lot of words, and a few sentences. I have a hard time Understanding him. I believe the high palate makes speaking more difficult. Tyler has been hospitalized one time for RSV. My daughter tries so hard to keep him healthy, and was very successful. Only one illness in 2 years, but so serious. The price they pay is isolation. When he began "therapy" sessions, with other children he was sick most of the time. One week of school, two weeks off. But he did so well, progressed rapidly and loved the other children. The teachers called him a "peace maker" and he truly is.

Tyler is overcoming his fear of textures and sounds. He always liked all kinds of food, but he uses a fork and napkin after every bite. It's really quite funny.

He was the first in both families to be diagnosed with a possible genetic problem. Though we now know my daughter's high palate, and short stature are symptoms we'll just have to wait and see.

Tyler is a wonderful little boy! Is sweetness also a symptom? He is the nicest little child I've ever been around. If so we could use more Noonan people on earth. We all agree that we are lucky to have him in our lives.

Well, this is such a long message.......I could go on and on, but I'll save some for another time.

My daughter (Tara) doesn't have a computer, but I'll try to be a go between.

Karen Van Buskirk
Grandmother to Tyler N.
Born 5/22/96
So. California