Carlos is a cheerful 25 month-old boy who was diagnosed two months ago with the full mutation of fragile X syndrome. He lives with his mother, Ana, and his grandmother, Gloria, in their small suburban home and has no siblings. Ana and Gloria describe him as an active two year-old who “gets into everything” and needs constant supervision at home. Once Ana left Carlos in the family room for only a minute and came back to find him on the floor surrounded by VCR tapes from the TV cabinet. He held his favorite Barney tape in one hand and the remnants of a potted plant in the other. He had dirt all over himself and grinned as Ana walked into the room. Carlos loves to cuddle and is affectionate with those around him, but he typically shies away from strangers. When his mom comes home from work, he is the first one to the door. He waits impatiently, jumping up and down with excitement and wiggles his fingers. Then he laughs and reaches up for a hug when she comes in. Although Carlos is a sweet and fun-loving little boy, his mother and grandmother are concerned that he has tantrums several times each day. These tantrums are frequently in response to minor schedule changes or difficulty communicating his needs, and, sometimes they seem to have no apparent cause at all.

One of Carlos’ favorite activities is swinging. He loves to play outdoors, but he does not like to play in the sand. Bath time is also a favorite activity. In fact he is so enthusiastic about it that sometimes he tries to climb into the tub with all of his clothes on! Carlos has recently become interested in Barney. He smiles and laughs when he watches it on TV. His mother commented that he also seems to be mesmerized by The Price is Right and will watch it for the entire hour.

Carlos hates to have his teeth brushed. He struggles to get away and whines when someone tries to brush them. He’s also a picky eater. He will eat fresh vegetables like celery and carrots, but he won’t touch cooked vegetables. He loves crackers with peanut butter on them, and some days that’s the only thing he wants to eat. Carlos also dislikes going to the grocery store. He gets whiny and has tantrums, so Ana tries not to take him with her when she goes.

First Concerns and Delays

Carlos’ mother first became concerned about his development at 10 months of age because he wasn’t babbling or using any typical “baby talk”. Carlos’ grandmother became concerned when even as a young baby he didn’t look into her eyes, study her face, or coo when she played with him. At first she felt hurt by his apparent lack of interest in her, but then she began to suspect that something was really wrong. When Carlos was 11 months old, Ana took him to his pediatrician for a stomach virus. At that time, she expressed her concerns about Carlos’ development. The doctor told her that each child develops at his own pace, and that Carlos was within the normal limits. He sat at 6 months and was starting to pull up and cruise. The doctor saw no reason to worry, and Ana left his office feeling like he had disregarded her anxieties and concerns. She was apprehensive about the doctor’s conclusions, but felt that he was the expert and decided to wait and see how Carlos progressed.

Carlos’ first birthday came and went, and by 13 months he was still not babbling or saying any words. He communicated his needs by reaching for things or turning his head away and whining when he did not want something. When frustrated he sometimes hit himself in the head repeatedly with his hand. Ana and Gloria also noticed that he didn’t play with toys the same way as other children his age. He typically picked things up and then dropped them, quickly moving on to something else. He did not seem interested in pop-up toys or books, and he tended to mouth objects rather then playing with them. He loved to play peek-a-boo, but got overly excited and flapped his hands during the game. Although he was always happy to see familiar people, he reacted negatively to new people (crawling away, fussing). This behavior was particularly stressful to Ana because she had to focus on calming her crying son whenever they encountered unfamiliar people.

At 14 months, Ana took Carlos back to the pediatrician and again expressed her concerns. This time he agreed that Carlos’ development and behavior were atypical and referred them to the local Developmental Evaluation Center (DEC) for a complete developmental evaluation. This evaluation included a communication assessment, educational assessment, an occupational and physical therapy assessment, a hearing test, and a parent interview. Carlos was uncooperative at first, but by the end of the testing Ana felt that they had seen all that Carlos could do. Ana and her mother returned a few weeks later to hear the results of the testing. The psychologist explained that Carlos demonstrated significant delays in all developmental domains, but that they did not know the cause of the delays. Results indicated that he was functioning in the 8-11 month range, and they were told that early intervention services would likely benefit him. Carlos’ mother and grandmother were somewhat relieved to hear someone affirm their suspicions that something was wrong, but at the same time they felt upset and confused. They had so many questions about Carlos. Will he have a life-long disability, or will he catch up with the other children? What is causing these delays, and will we ever find out? What kinds of expectations should we set for him? What will he be like as an adult? And finally, What can we do now to help him?

To address this last question, the DEC team explained that Carlos qualified to receive early intervention services and was guaranteed these services by part C of IDEA. He could receive these services through the county developmental disabilities program, which provided the services with a sliding scale payment plan. About three weeks later, Ana met with Carlos’ new case coordinator, Elaine. She helped arrange for Carlos to begin Speech Therapy and Occupational Therapy (combined) at a local clinic. In addition, Elaine arranged for an Infant-Toddler Program Specialist to begin to visiting Carlos at home for an hour each week. The specialist, Margaret, worked with Carlos to help him learn new skills, such as how to operate simple toys, and she provided support and advice to Ana and Gloria. Initially, Carlos did not interact with Margaret when she came to visit; however, after about a month he seemed to warm up to her and showed interest in the toys she brought for him.

At first the visits to the clinic for Speech Therapy and OT were overwhelming for Carlos. The new people, new noises and new activities made him anxious. He frequently shrieked, held his ears, and tried to pull his mom to the door. There was lots of equipment that Carlos, his mom, and grandmother had never seen before—like huge brightly colored balls and swings hanging from the ceiling. The therapists asked Ana to tell them about Carlos’ favorite activities and toys. Since he loved Barney and loved to play in water, the therapists introduced new activities for brief periods (3-5 minutes) and then let Carlos play with Barney at the water table. Soon, Carlos was grinning from ear to ear when his mother pulled into the clinic parking lot and fussed when it was time to leave.

Carlos’ “play” with Barney in the water was really his speech and language time. The speech pathologist taught Carlos to follow simple verbal directions with Barney (e.g. “Give Barney to Mom”…or…”Give the keys to me.”) She put laminated picture symbols on a big key ring so he could “tell” her which toys he wanted from the “toy bag”. They also had a separate ring with “head nod” for yes and “head shake” for no. She printed labels under each symbol and always pointed to the label when they tried to say the name together. The therapist explained that at this stage, the printed words weren’t for “reading” but were his cues to “use his words”. When he got restless, the Occupational therapist would put him back in the swing or on the big ball. The therapists explained that the motor and sensory work the OT was doing helped Carlos focus and tolerate more demands at one time (e.g. like following the verbal directions or expanding pretend play routines such as putting Barney to bed or feeding Barney.) Sometimes the speech therapist did oral-motor exercises with Carlos while he was on the big ball or in the swing. The goal of these exercises was to desensitize his mouth area and to improve muscle coordination in his tongue and mouth. At first, he hated her rubbing with a cloth around his mouth, but the therapist would sing funny rhymes to him while playing “mouth games” and pretty soon he liked it when she rubbed inside his mouth with a warm wash cloth. Therapists always gave his mom and grandmother a couple of exercises to try at home like pushing roll toys around to increase joint stability or following simple directions without gestures (“Put this in the trash.”…or…”Close the door.”)

Carlos’ progress was slow, but he was beginning to learn many new skills. When he was 18 months old, he delighted his mother and grandmother by taking his first steps without assistance. This new skill elicited so much praise and excitement from others that whenever he had the chance he fervently pulled himself up and tried to walk. He smiled and seemed proud of his accomplishment each time he was successful. Around the same time, he was beginning to show much more interest in his surroundings, and his mother and therapists were glad to see him engaging in more goal directed behaviors. For instance, he would make his way across the room to reach a ball or musical toy. Even though his attention span was extremely brief, it became much easier to interest him in new toys and activities. His eye contact had improved, but he typically only maintained it for an instant before looking away.

Fragile X Diagnosis

Despite the progress Carlos had made, Ana still felt that some of his behaviors were odd, even for a child with developmental delays. For instance, his difficulty tolerating groups of children or adults was becoming more obvious despite his apparent desire to be sociable. At 20 months, Carlos’ mother took him to his pediatrician for an ear infection. She also discussed some behaviors that concerned to her (hand-flapping, group avoidance, head slapping, high activity level). The pediatrician, unable to explain why Carlos was exhibiting these behaviors, suggested that Carlos see a developmental pediatrician. At 22 months, Carlos saw Dr. Rogers, a developmental pediatrician at the local hospital. After a comprehensive exam, Dr. Rogers explained that Carlos’ delays could be due to fragile X syndrome (FXS), an inherited genetic condition. He told Ana that Carlos had low muscle tone, a characteristic feature of FXS. This explained why Carlos continued to fall frequently and stumble over things while walking. Furthermore, hand-flapping and hyperactivity were quite common among children with FXS. Although Carlos’ physical features did not appear unusual, his ears were somewhat large, another characteristic common in children with FXS. Ana agreed to have Carlos’ blood drawn and tested for fragile X.

The 3-week wait for the results of the blood test was difficult for Ana. She asked Carlos’ case coordinator to send her information about FXS and began to read as much information about the cause and manifestations of the syndrome as she could. The more she learned about FXS, the more positive she was that Carlos had it. Her heart sank. Until then, she had allowed herself to believe that Carlos might eventually catch up with other children his age, but now she had to cope with the possibility that Carlos might have a severe disability and would never be “normal”. When she finally found out that Carlos tested positive for FXS, her first emotion, surprisingly, was a sense of relief. When asked about this experience, Ana replied, “Even though the news was upsetting, it was reassuring to know that there was a name for Carlos’ problems. I couldn’t figure out why in the world he was acting this way, and the diagnosis provided an explanation.”

A genetic counselor explained how fragile X is inherited and told her that any of her future children would have a 50% chance of inheriting the syndrome. Ana found the genetic counselor to be very helpful and easy to talk to, but it took her quite a while to absorb all of the information. Not only was she devastated that Carlos would have a permanent, life-long disability, but she also felt pangs of guilt for having passed on this disorder to her son. A few weeks later, Ana and her mother were both tested for the fragile X mutation. As expected, Ana was a carrier of the syndrome. She had inherited it from Gloria, who was also a carrier. They knew that they needed to inform their family members who might be FXS carriers; however, Gloria was reluctant at first. She felt guilty for passing on the gene, even though she knew there was nothing she could have done about it. She also resisted because on some level she wanted to deny the possibility that other family members could be affected. Once Ana and Gloria had some time to let the news sink in, they pulled themselves together and began to inform their family members. It was particularly hard to tell Ana’s younger sister who did not yet have any children. She took the news relatively well, though, and Ana helped her make arrangements for DNA testing.

Currently Carlos is 25 months old and Ana is concentrating on providing information to Carlos’ therapists about fragile X syndrome so that they can serve him better. She has been surprised to find that many professionals have not heard of fragile X, and she is trying to educate them as much as possible by giving them whatever information she can find. As time goes on, she is beginning to feel more comfortable with the diagnosis, although she is still struggling with a sense of loss and grief. According to Ana, her mother’s support over the past several months has been invaluable, and she has a close friend who has also been supportive.