Age 3 1/2 -  Michael was very fearful and “helpless” and would not take a bite of food by himself without being told.  He would look at french fries and wail, “Eat french fries!” and I would have to tell him, “Eat french fries!” before he would eat one!    He did that on a preschool field trip too, and the teachers reported to me that he had just cried and cried and been unable to eat (they had not known to repeat “Eat french fries!”)    He had Auditory Integration Training while this was going on, and by the third day of the training he not only lost that fearfulness, he started grabbing food off of my own plate!   Teachers noticed the difference too.   However, he was the only child in the group of 10 for whom this training made a difference. 

Age 3 1/2 -  Began pragmatic language therapy with a good therapist who realized he did not KNOW how to answer questions or even that an answer was expected!  

Age 4 -  Toilet trained!  Very quickly, in fact, now that he was old enough to dislike being wet and to understand what I said about it.    I waited until summer, put real underwear on him (he would wet Pullups), and told him in the simple concrete language he understood, “Do not wet your pants.”    I let him play outside a lot  :-)  and we probably had to change two or three times before he learned.  

Age 4 - Took to neurologist.  Told the guy I did not want any test that would scare Michael to death yet not tell us anything that we wouldn’t be able to fix anyway.   Neurologist did an EKG - only 5 minutes of usable results because Michael was plunging around hating the wet gel on his head.   But it was normal.   He said this is not autism.    Michael had started slow and progressed from there, instead of starting normal and regressing.    It is a LANGUAGE DISORDER.    He said he was sure he had at least normal intelligence.   OH THANK YOU GOD.   

Age 5 -  Started regular kindergarten, being pulled out for language therapy.   Had an IEP.   Did two years kindergarten. 

Age 12 - Started middle school, with special ed teachers teaching him regular subjects.  

Age 13 - Said he wanted to be in regular classes.   I was not sure about this and his language therapist was afraid he’d be lost, but he insisted and went into regular classes, with his IEP specifying accomodations if he ever needed a question restated, more time on an assignment, etc..    He continued to have language therapy.   English literature was and has been his only problem.   The abstract, obscure, and subtle - you know what I mean - that is totally lost on him. 

Age 15 - Entered high school.   By now his good language therapist at the school retired, so I hired her to work with him privately.   He did not need to “work on R” with a run of the mill school speech therapist.  

Age 17 - School informed me that although his language comprehension scores were still really low on standardized tests, he did so well in regular classes (3.5 average) and scored well enough on everything else that they “could” no longer keep him classified as receiving special ed services.   All he was getting at the time was the accomodation possibility (and he never used his accomodations) so we really didn’t lose anything.  Also, I could have fought this but Michael insisted he did not want to have anything to do with special ed at all and was really mortified about the whole thing.   He joined the youth group at church and just wanted to be one of the guys!  

Age 19 -  Graduated from high school with 3.5 GPA.    Still missed subtle language, inuendo, etc.     

This is a language disorder.   He has normal intelligence, can empathize, can tell when people are angry, knows that others have their own thoughts, etc.    He is still improving every day!

……..It was a pleasure to meet with you and Michael on your visit to the ………Clinics.  As you will recall, at your parent conference held on December 5 at the Developmental Evaluation Clinic, we discussed the following diagnoses and recommendations for Michael:

1.  Diagnosis:  Developmental Delay

Psychology administered the Bayley Scales of Infant Development.  Test results indicated that Michael has a mental age of 12 months.  Michael did pass some items in the 17-18 month range.  This means that Michael learns slower than other children his age.

Recommendations: Return to clinic for re-evaluation by Dr.  ………..

2.  Diagnosis: Global Developmental Delay

The Vineland Adaptive Behavior Scale was administered with you as the respondent.  With your answers, Michael scored the following: Communication, 1 year 4 months; Daily Living Skills, 1 year 3 months; Socialization, 1 year 7 months; Motor Skills, 1 year 8 months; and an adaptive age equivalent of 1 year 4 months.

Recommendations: Early Intervention Program

Nursing believes Michael will benefit from an early intervention program with behavior modification and speech/language intervention which is available at ………….. 

3.  Diagnosis:  ?Pervasive Developmental Disorder

A vocabulary test, the Sequenced Inventory of Communicative Development (SICD), was administered to Michael.  His receptive age level is 16 months.  HIs expressive language age level is 16 months.  During evaluation Michael made some odd sound effects and exhibited atypical behaviors. 

Recommendations: Speech/language intervention

Michael needs an early intervention program with a behavioral component to address atypical behaviors.  Speech/language intervention can begin now through the ……………Clinic language group. 

4.  Diagnosis: Normal hearing

A hearing test in sound field was conducted and Michael has normal hearing for at least the better ear.

Recommendations: Annual hearing exam

Michael can benefit from annual hearing exams as any early problems can be identified and tested. 

Based on our discussion of your present pregnancy and the unanswered questions regarding Fragile X, we have scheduled Michael to see Dr. …………….. on December 19th at 2:00 p.m.   I realize that this information must have been very disheartening and hope that having a written explanation will be helpful. 

If we can be of further assistance to you, please feel free to call. 

Sincerely,

……………………

Clinical Specialist

A few days later I went in to meet with the doctor and nurse who had been in charge of our visit to the medical center for Michael’s evaluation. There was nothing but bad news. I was told scores which were simply horrible. They actually counted all those refusals of his as wrong answers, so they opened by saying, “We’re not saying Michael is mentally retarded. We’re saying it’s just too early to know.” OH MY GOD. THEN WHY DID YOU SAY THIS TO ME? They went on to use the terms like “developmental delay” and “autistic-like.” They even said that he did have many traits of Fragile X Syndrome and perhaps that should be explored further. Recommendations included either an early intervention program for all special needs children which was nearby, or admission to a residential school which was specifically for children with autism! They really recommended the school for autism, saying there were many little guys who were a lot like Michael there. Also, I was urged to start him in their speech/language clinic ASAP while we were thinking of what schooling to try for him. He was not even 2 1/2 at this point, and back then at least, public school had to provide early intervention for all “at risk” children starting at age three. If you remember the way Tammy Faye Bakker was always portrayed on Saturday Night Live, with the tears spurting out and the mascara all over her face, then you can pretty much picture the way I looked from Michael’s second birthday through at least the next year. I think it was a kind of grief.  I was and am VERY thankful that this was not a physical disease or a life-threatening illness, but I was still grieving for the life I believed he was never going to have. My poor, poor baby! I got home and looked up the school for autism and I just couldn’t do it. This was my baby and he didn’t have a behavior problem, so I was going to try to see how far we could get by putting him with kids who did not have autism. He needed to hear some kids talking and see how kids do things, even if he seemed not to take it in at all at this point. I called the early intervention program instead and they told me they would put his name on a waiting list. A waiting list! Couldn’t they fit one more small boy into the program? It could make all the difference in the world - to his life!

Meanwhile, since it had occurred to me that I was now 33 years old and we had decided that it would be fine to have another baby, I decided I would get pregnant again immediately and could not stand to wait and just let things happen naturally.  After all, I was having to wait and wait to find out about Michael and what was going on with him, and there was only so much waiting I could stand!   But the instant gratification I sought did not come.  It seemed that every month something happened that ruined my chance to conceive.  One month I came down with a raging fever and sore throat for the days when I could have conceived.  The next month, I got a terrible case of food poisoning just as I had thought it was a good time.   I started to become desperate, and that was really ridiculous since it was only a few months.  But like I said, the situation with Michael had me under more stress than I would have admitted to myself. 

The lady who had had the grandson with Fragile X Syndrome had told me some symptoms she knew of, and one of them was flapping of the hands.  Michael had begun to do that when he didn’t get his way and was frustrated with us!   She also mentioned high birth weight.  Michael had been a very large baby, and in fact he was large even as a 12 week old fetus.   When I went for my prenatal visit at 12 weeks, the doctor had ordered that at my next month’s appointment an ultrasound would be given to me just to be certain there was only one of him!   Were there other, related syndromes we knew nothing about that would cause similar symptoms?   The appointment for the evaluation was still a couple of months away, and I was clinging to hope that he was “normal” but somehow just developing at his own rate.  

In late October, I left Michael at home with my husband and met my sister at our college’s homecoming game, as was our yearly tradition.   I remember I just felt strange, not sick, but definitely sort of dizzy, by the end of the game.   My sister, who was younger and still single, teased me, “You’re not pregnant again are you?” and was very surprised when I said, “Maybe!”    I soon bought a pregnancy test and hurried home and ran it.  Yes indeed, there was another one on the way for the next summer!  

Meanwhile, during the weeks when I’d been waiting for the Fragile X test results, I had gone to the hospital where Michael was born and requested to view the records of his birth. I was permitted to sit and look through them and take notes, but I did not get a copy of them. I’m not sure if I would have had the right to demand a copy, but I just wanted to see if there were any abnormalities noted or any events I had not known about. The main thing I had started to wonder about was the PKU test. I had always heard that babies get a PKU test at their very first pediatrician appointment after going home from the hospital (at 72 hours of age). In Michael’s case, since I had had a C-section, we went HOME when he was exactly 72 hours of age, so he did not get the test at the pediatrician’s office. Had he gotten it at the hospital? NO. I could see that he had not had the 72 hour PKU test. During those weeks, I went over everything I could think of that might have happened and everything I could find in books that might cause an otherwise healthy baby to become mentally disabled. The PKU had to be it! Since I did not have access to the internet in those days, I bought a Mayo Clinic medical encyclopedia to have a look, dreading to read it, even as I rushed home with it to devour anything I could find about PKU, babies, and mental disability. The PKU article did not sound like that was his problem, but who could be sure? The day Dr. Hamilton talked to me, I told him about those fears and he asked us to come in so he could give Michael a PKU test again. They took a urine sample which was negative, but then they also took blood to send to the state lab. More waiting!

Now that it looked as if we were not going to have a definitive answer any time soon, my husband and I had to decide what to do about having any more kids. I was 33 years old at this point, so we didn’t believe we should wait a few years and see how this turned out. My kind husband said, “I don’t know what’s going on with him, but I wouldn’t mind having another one just like him!” Of course we would not knowingly conceive another child with a disability to bring into this cruel world, but I thought it was a nice thing to say about our Michael. That was one thing my husband and I always agreed on; the little guy was our number one priority and we’d do whatever we could to try to give him a happy life. For the next few weeks, I’d take Michael to the baby pool each day for a couple of hours where he’d watch streams of water going into his plastic cups. We also had fountains at the malls and several other things we did as we made “the rounds” each week. He was so fascinated with fountains and trains. He never pretended, but heck, he was just a baby wasn’t he? So I enjoyed the fountains with him and tried not to worry. I only had two friends who were staying home during the day with babies and with whom we could visit. Their babies were talking, and even more remarkably seemed to understand everything that was said to them. Well, they were girls. Girls developed at a different rate didn’t they? We all have our unique pattern of development. Michael was my first baby, so I had no idea how unusual and slow his language, fine motor, and social development was.

This was almost two decades ago, and I did not have access to the web, much less Google! I had quit my job when Michael was born, with the plan to return to work after he and any siblings went to kindergarten. So my life after that test became a series of days consisting of taking care of Michael, doing housework and errands, taking him to the community pool where for two hours each day he would enjoy watching a little stream of water pour from a spout in the side of the baby pool into one of his plastic cups, then finally rushing home before the end of each afternoon so I could make sure I was there if the lab was trying to call me. What an unspeakably cruel thing it would be to come home after 5 pm and find a message that they had tried to call but would try to call the next morning! Fridays were especially tough. I did not want to chance a whole weekend of hell, knowing that the answer was available but that I had just not been there, so I started grounding us on Fridays. After two weeks, I called the lab. Any results? To my surprise, the woman stated briskly, “I am not in the business of calling mothers. I will call your pediatrician and send him a report when the results are ready.” Oh my GOD! She had told me she’d call me! I called my pediatrician’s office, and the motherly receptionist assured me they’d call me as SOON as they heard a word from the lab. We were to go on like this for six weeks. Every Friday Michael and I would stay at home all day, even on the sunniest afternoon, and then every Monday morning I would call the pediatrician’s office to hear that they had not heard anything. Meanwhile, I did find some medical articles about Fragile X Syndrome and worried and thought and compared and tried to figure it out on my own, hoping to reassure myself that he couldn’t possibly have it. At age 2, the physical signs are not that obvious, but large ears and a large head circumference are among them. Michael’s head was actually in the 95th percentile for his age. I had had him by planned C-section after it was determined that he was two weeks late and that I did not seem to be going into labor at all. His birth weight was almost 10 pounds. Here’s a link to Fragile X information.

After six full weeks went by, I called the pediatrician’s office on Monday morning around 10 am. To my surprise, the receptionist happily said, “Oh yes, we were going to call you.” (Really? WHEN?) “Chris, it was negative!” Oh thank you God. Thank you thank you thank you. Then she said, “Dr. Hamilton wants to talk to you. Hold on, Honey.”

On the afternoon of his second birthday, I took him to a park to swing. We had already had his little party that morning with grandparents present, and he had not enjoyed it and had not seemed to realize he was receiving gifts. At the park, the lady pushing the little boy next to me was urging her grandson, “Say, ‘out!’” She wanted him to ask to get out of the swing. I remarked, “Oh, I see your little boy doesn’t talk either.” The woman said quietly to me, “Shane has Fragile X Syndrome. He’s mentally retarded.” She went on to tell me that he had been diagnosed a year or so before and was now four years old. But he looked so normal! Apparently Fragile X Syndrome is a hereditary trait, and it’s sex-linked, so it’s much more common in males than in females (like color-blindness). I rushed home with a heavy heart that day and called my pediatrician. He had never heard of Fragile X Syndrome! But he agreed that we should go for a blood test. I felt sick with dread and fear as I called the genetic counseling lab at our local medical center for an appointment.

I am only a mother, not a therapist or physician. So please take your child to any professional you believe could help. We tried many things, and of course I can not be certain of the ones that were useless, but I do know that early intervention and PRAGMATIC LANGUAGE THERAPY helped him to make rapid progress once we got started.