I gave birth to my daughter Hillary after a normal pregnancy. She seemed to be the picture of health, but the doctor discovered that she had a cleft palate. He said that this particular type of cleft in the soft palate is usually corrected easily by surgery when a child is about two years old.

The only immediate problem was that she could not nurse properly. With part of her palate missing, she was not able to create the vacuum necessary for suction.

For the first three months, Hillary had to be fed by hand. Then, in her fourth month, she somehow learned to suck her nostrils in and create a vacuum. This permitted her to nurse. What a relief? Soon Hillary began to gain weight, and everything appeared to be normal. She could use her hands to hold things. She also made baby sounds and learned to sit up.

                                                  MYSTERIOUS SYMPTOMS DEVELOP

When it was time for Hillary to start crawling, she didn’t seem interested. For instance, rather than get up onto her hands and knees, she would sit on floor and push herself around. This was puzzling to me because it was so different from what my elder daughter, Lori, had done when she the same age.

Talking to other mothers, I learned that some completely healthy children never crawl. After hearing that, I didn’t worry so much about Hillary’s behavior.

By the time her first year drew to a close, Hillary had learned only few words. This seemed a bit unusual; but not all children are alike, and learning to speak can make take more time for some than for others. Hillary also made no effort to walk or pull herself up to a standing position.

I took her to pediatrician, who said that she had flat feet. During the next couple of months, she still made no effort to pull herself up.

 We went to the doctor again, and this time he said Hillary was lazy. At 18 months of age, she was no closer to walking and had stopped using the few words she had learned. I called the pediatrician and told him that something was definitely wrong with my daughter.

We made an appointment with a neurologist. He ordered a number of tests, including an electroencephalogram [EEG], which allows doctors to analyze the electrical activity of the brain. The EEG showed seizure activity.

The neurologist said that Hillary also had some physical features –including cafĂ©-au-lait-colored spots, a pigmentation of the skin that is usually light brown –and certain eye characteristics that are often related to neurological problems. Clearly, Hillary had something wrong with her, but the neurologist could not explain what it was.

While tests indicated that Hillary had been having seizures, we had never seen anything that could be identified as a seizure. There were, though, other problems that were obvious. She would go through crying spells almost every day. The only thing that seemed to help was shuttling her around the neighborhood in the car and singing to her. We drove her around so much that some of our neighbors asked us why we kept riding by their houses!

During her second year, Hillary started developing unusual hand movements –a constant rhythmic movement of her hands back and forth to her mouth. She eventually reached the point where she would do this almost nonstop during her waking hours.

She also went through a period during which she seldom slept. Sometimes she would take a short nap in the afternoon but then stay awake all night. Hillary loved music. She could watch children’s musical shows on TV for hours on end. But her neurological problems seemed to grow worse. She began to develop some breathing abnormalities, such as hyperventilating and breath-holding.

She would sometimes hold her breath till her lips turned purple. That was really scary. We tried some seizure medications, but they seemed to cause other problems. From there we ran the gamut of treatment options –more doctors, more tests, conventional and alternative therapies. Nothing provided a diagnosis, much less a cure.
                                                     MYSTERY SOLVED AT LAST

When Hillary was about five years old, a close friend of mine read an article in her local newspaper about a girl with little-known genetic disorder called RETT SYNDROME [RS]. She knew that Hillary had similar symptoms so she sent me the article.

Armed with this new information, we went to see a different neurologist –one who had experience in this field. In the early 1990’s researchers were fairly certain that RS was a genetic disorder because it had been identified mainly in girls.

But the genetic marker RS had not yet been found and many of its symptoms are similar to those of autism or cerebral palsy. So RS had to be diagnosed by its symptoms. Hillary had almost all of them. The neurologist confirmed the diagnosis of RS.

I started to read everything that I could about the disease, which at that time was not much. I leraned that RS occurs in about 1 of every 10,000 to 15,000 female births and that there is neither a known cure nor any specific treatment for it.

There is also something that I would rather not have learned – I found that small percentage of Rett girls die inexplicably. However, one thing I learned was, in a way, a relief. Let me explain. The fundamental handicap in RS is called APRAXIA.

The Rett Syndrome Handbook defines it this way: “Apraxia is the inability to coordinate thought and movement. It is most fundamental handicap seen in RS, and involves all body movements, including speech and eye gaze.

While the girl with Rett syndrome does not lose the ability to move the body, she loses the ability to tell the body how and when to move. She may have a desire and a will to move, but is incapable of carrying the movement through.

Why was it a relief to learn this? Because apraxia does not affect intelligence; in fact, it hides intelligence because it makes any kind of communication all but impossible. I always felt that Hillary knew everything that was going on around her, but without communication I could never really know for sure.

Because apraxia affects movement and speech, Hillary had lost her ability to walk and to talk. Many girls with RS also have problems with seizures, scoliosis, grinding of teeth, and other physical problems.

Recently the gene that causes RS was discovered. It is actually a very complicated gene –one that has to do with the control of other genes, switching them off when they are no longer needed. At present, extensive research is under way with the goal of finding effective treatments and eventually a cure.

Hillary is now 20 years old and is totally dependent on others to feed her, clothe her, bathe her, and change her diapers. While she weighs only about 45 kilograms, it is not easy to pick her up. So Lori and I use an electric hoist to get her in and out of the bed and bathtub. A close friend added casters to the bottom of Hillary’s recliner, so the recliner can be pushed under the hoist and she can be lowered into it.

                                                            SYMPTOMS OF RETT SYNDROME

At some point in the years following the first 6 to 18 months of life, a child with RETT syndrome experiences an overall regression. Symptoms include the following:

     1.      Decreased head growth from four months to four years of age

     2.    Loss of the ability to use hands functionally

3         Loss of the ability to speak.

4   Repetitive hand movement, such as clapping, tapping, or wringing. Individuals with RS often move their hands in a characteristic “washing” motion and/or repeatedly put their hands into their mouth.

5         If a child is able to walk, movement is stiff, with legs wide apart. As the child gets older, moving and walking may become increasingly difficult.

6         Unusual breathing patterns: either holding the breath [apnea] or over-breathing [hyperventilation].

7         Seizures –which take place when the brain unexpectedly creates extra powerful electrical signals –affecting behavior and movement. The seizures themselves aren’t usually harmful.

8         Scoliosis, a curvature of the spine, may cause the child to lean to either side or toward the front.

9         Some girls frequently grind their teeth.

10     Foot size is small, and poor circulation may make the feet very cold and/or swollen.

11     Girls are usually small for their age in both height and weight. They may also be irritable and have trouble sleeping, have difficulty chewing and swallowing, and/or tremble and shake when upset or scared.