Living With Fragile X

Bobby at age 3

At around 6:00 AM on 24 November 2002, 17-year-old Amber gave birth to her first child – a baby boy she named Bobby. And so, her life as a mother began. Little did she know what that would mean as the years went on.

When Bobby was sixteen months old, he was diagnosed with Type 1 juvenile diabetes. This news was difficult to accept, but it was not the worst of the troubles for her and her young son.

At the age of three, Bobby was diagnosed with a condition Amber had never heard of before – Fragile X Syndrome. When she learned what that meant, she was devastated.

“I cried,” she said. “I almost fainted.” She was still learning to deal with his diabetes, and now her baby boy had yet another life-altering condition she had no idea how to manage.

Bobby’s pediatrician immediately referred Amber to two specialists in the departments of genetics and development. “The genetics doctor educated me on what (Fragile X) was (both) genetically and physically. The developmental doctor kept an eye on (the condition) physically and mentally as (Bobby) grew older.”

By this time, Amber had given birth to her second son, Briceton. He, too, was diagnosed with Fragile X and was put at once under the care of the doctors caring for Bobby.

“I was also referred to a place called Family and Child Connections. This place sent therapists to my home to help with physical therapy, speech therapy, and occupational needs. (The boys) were also qualified to start preschool a year earlier than most kids. They (the doctors and therapists) felt the earlier we could start these services, the more they would benefit from them in the future.”

Brice at 2 years old

Amber was told that, if she had more children, the odds of her other children inheriting the Fragile X condition would be fifty-fifty. “They also requested that I have my mother tested as well,” since women are the carriers for the condition. Even her obstetrics doctor tried to talk her out of having any more children.

“I didn’t listen!” she declared. She has had two children since then, a boy and a girl. Her son, Aaron Jr (AJ) does not have the condition. Her daughter Becca does but to a lesser degree.

As the boys grew older, the problems became even more difficult to handle emotionally.

“They couldn’t talk for years, so it was hard to figure out what they wanted. At first, my mom was the main support (person), but then I met my husband a year after Brice was born, and he helped a lot with childcare and helped me mentally as well!”

Many of the physical aspects of Fragile X were evident in both boys, like the enlarged ears, long faces, and smaller statures. However, their personalities were, and still are, completely different.

“Bobby is more of an introvert, shy,” Amber remarked. “Brice is outgoing and loving. Their behaviors growing up were different as well. Bobby cried a lot, whereas Brice was always happy; but because Brice had more (sensory) needs, he would tend to bite a lot instead of cry to express his frustrations,” especially when he felt someone wasn’t paying attention to him or understanding what he wanted.

“It’s funny,” Amber mused. “(As different as they are), when we go out, a lot of people ask if they are twins!”

As the boys have grown, they are past the need for special therapies now, However, they still need a lot of reminders on everyday self-care.

“There are still some things they can’t do independently, like tie shoes or manage diabetes, but we are still working on it one day at a time. They both are really smart, considering they function at a lower age level.” Bobby is now nineteen years old, and Briceton is seventeen.

Becca at 10 years old

The youngest child in the family, their daughter Becca was born in May of 2009. She is also affected by Fragile X Syndrome and, as a female, is a carrier of the condition.

“(Being female,) Becca didn’t get the full mutation like the boys did; therefore, she only has slight learning disabilities. She still received OT (Occupational Therapy), PT (Physical Therapy), and ST (Speech Therapy).” Although Becca is also functioning educationally at a lower age, her understanding and communication skills have developed beyond that of her brothers because her second X-chromosome has not been damaged. (See: https://chasinglifeafter64.blogspot.com/2022/01/normal-0-false-false-false-en-us-x-none_25.html )

When asked what the future holds for her children, Amber replied, “Even though I’ve imagined the future a million times, it’s really hard to say. Only time will tell. I don’t see the boys driving, but it’s possible they could maybe work one day. I do see them being at home for a very long time, which I’m sure most other mothers would love, including myself!

“But, if they want to eventually explore the world, they’d probably live in a group home or assisted living.”

Most people have never heard of Fragile X before and may not understand all the aspects involved when a child is diagnosed, or the effort and patience it takes to care for even one affected child, let alone three. How can a mother explain her children to people who don’t know what this is?

“When people ask me what Fragile X syndrome is, I tell them it’s a lot like autism because people have heard more about autism. I tell them that it’s genetic; my mom passed it to me, and then me to them. Becca will also have a fifty-fifty chance of passing it to her children if she decides to have any.

“It’s a simple blood test that can detect it, and I urge people to have the blood work done if they have any types of delays in their children’s development or if they already have autism.

“Bobby’s diagnosis started with a physical. The doctor felt he had autism (hence the hand-flapping). Brice has ADHD (attention deficit hyperactivity disorder) as one of his symptoms.”

Amber recommends to people whose children have any of these conditions or have been diagnosed with Fragile X to continue researching as often as possible to learn as much as they can.

“The research and understanding of Fragile X, the diagnosis, and the treatments are constantly changing and evolving.” She also encourages parents to seek out support from others who are going through the same things with their children that she has.

I know Amber and her husband and my son, Aaron, would never trade what they have been through with their children for any other situation without them. Their lives revolve around their family, and they wouldn’t have it any other way.

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All four children in 2018

 UPDATE (9 September 2024): Bobby and Briceton are both adults now: Bobby is 21 and Briceton is 19. They still live at home and are still below age-level educationally. But their intelligence shines through in other ways.They can recite their favorite movies word for word. Both boys can build the most amazing creations with Lego blocks - actual "working" vehicles and machines that roll, dig, and lift. Bobby has learned to read at a 4th-5th-grade level, and his grasp of literary standards has improved tremendously over the last two years. Brice's verbal communication skills are greatly improved, although he still struggles with reading and writing. 

Becca is now 15. She has the most lovable personality. She enjoys school and, although she is a few grade-levels below her age group, she is progressing rapidly in most areas. AJ, the only child in the family not affected by Fragile X, is 17 now and in his Senior year of high school. He has become a guide and protector of the other children, especially for Becca. I am extremely proud of all my grandchildren.