Special Day of Awareness - A Mother Shares Her Struggle and Triumph

Wow, think about getting the answer to one's prayers, in an email, and first thing in the morning. That's what happened to me!

My eyes opened Wide as I read the following email:

IMPORTANT NEWS ARTICLE IN THE WASHINGTON POST

"Mother labored to find reason for son's developmental delays"
By Sandra G. Boodman

Click the link below and read the Washington Post article and then come back because I have more to share about the consequences of not getting an early diagnosis. Do you know anyone else who fits this description?

1 in 500 boys have it and they need your help!

Washington Post Article

For years, we have wanted to get the word out and to let the public know about this condition which often goes undiagnosed and untreated while countless suffer. You can imagine my delight and excitement to see the story of a mother and a son who struggled until they got answers. With the diagnosis, came understanding and appropriate care and services. I identified with that mother and son, because I have lived a similar story.

Our son was diagnosed with 47,XXY when he was 11 years old, after struggling for years in school. His language delays were identified early, followed by reading and writing difficulties which then led to acting out and behavioral problems.

When his teacher told me that he was actually regressing in his reading ability in fourth grade, I decided to have him completely evaluated by the medical community. It was then that I learned that he had an extra X chromosome, 47,XXY – a critical fact that had been repeatedly overlooked by doctors and educators despite our years of searching for the cause of his challenges.

Sadly, our experience is all too common. Over the years, we have gone in many directions looking for help for our son. Even at very good private schools designed for children with learning and emotional disabilities, our son presented more challenges than the staff was equipped to handle. Our struggles and his frustration have been extremely challenging and at times, we were tempted to throw up our hands in despair.

Since getting this diagnosis, he has seen several great doctors and has had some great teachers, but as hard as we have all tried, he never seemed to have access to all of them at the same time. As a result, services for most of his life have been fragmented, his self esteem has suffered, and he still struggles academically. Our son is now 18 and we have finally succeeded in assembling a great support system of school and medical personnel and we consider this to be one of our greatest accomplishments.

Not all young men with XXY are so lucky. Many are still mislabeled, misjudged and left without much needed services. Most are never tested to rule out genetic abnormalities and are simply mislabeled as ADHD, ADD, lazy, or as loners or troublemakers in school (which is incredibly sad because they are often uncommonly sensitive and caring for others when properly diagnosed and treated.)

Many of these boys need specialized educational services and benefit from testosterone supplementation as their bodies generally do not create enough of this hormone, which often leads to fatigue, moodiness, and a lack of focus.

Many doctors and educators are largely unaware of this very common genetic variation and its social implications. Raising awareness of this genetic abnormality in publications such as yours will increase the possibility that these boys will be tested and given appropriate services early on to avoid needless years of struggle and frustration, strengthening these boys to take their rightful place in our society.

It is my hope that with more public awareness, that parents will get the help and support that they need for their sons who often struggle to read, to write and to fit into traditional classrooms. It is my hope that increased awareness of 47,XXY will lead to a recognition of symptoms, testing, proper diagnosis, and attract research dollars and more effective treatment which could mean the difference between success and failure for our boys with an extra X chromosome.

If you know of anyone who fits the description above, please feel free to contact me or the KS&A organization directly. There is much to share and much to learn. Let's do it together!

With higher hopes for tomorrow because of a story shared today,

Doreen

One Step Forward, Two Steps Backward and One Step Forward and So it Goes with a Ray of Hope....

The year is now 2002, the month November, and we have learned that our son has Klinefelter Syndrome, 47 XXY. Our doctor called and said, "Mrs. Fulton, are you sitting down?" "Yes, I am, Doctor." The Doctor said, "Mrs. Fulton, the test results have come in and Robert has 47 XXY; It is a chromosomal abnormality and I would like to tell you about it. Your son, has many of the challenges that others with the syndrome have and we would like you to meet with a geneticist to give you an idea of what you can expect." "Yes, Doctor, please make the referral and please spell the name of the syndrome for me. I will be doing some research, myself."

It seems like only yesterday, that I got that call. I had waited 7 long years to get this diagnosis and my hopes soared with the information that I gathered. Boys, like my son Robert were often immature for their years, often had speech challenges and difficulty in expressing their ideas. Many were described as good looking, tall and generous in spirit. This certainly was true of Robert, who had always impressed me with his good looks and compassion. With testosterone supplementation at puberty, they often became better focused, more at ease, and school work became easier for them. At the age of 11, puberty was around the corner, and with testosterone, hopefully, his troubles would soon be behind us.

I learned of a group of parents who had come together to support one another and the development of their boys with KS. I called the toll free number and talked to Melissa, organizer of the parent group and was delighted to hear that there was a Klinefelter Specialist in the Washington, DC, area. I called Dr. Samango Sprouse, the highly respected expert and she agreed to meet with me and my son the following month. More hope!

I knew that the school would be interested in knowing of this diagnosis and that I would want to share all I knew so that they could help us to help Robert. While the principal and teachers, were interested, they were not prepared to offer the help that the Klinefelter Specialist had suggested.

They had a suggestion, perhaps, a school for the emotionally challenged would be more appropriate for Robert. With a huff and more than a puff, I blew that idea out of the water.

I withdrew Robert from public school, enrolled him in Lindamood Bell for reading support and saw his reading skills increase with the one to one tutoring support. The intensity of instruction, proved to be too much after a couple of months and soon Robert was showing his frustration in emotional outbursts. I knew he needed to let off steam, exercise after a couple of hours and arranged to have personal trainer to come in to lead physical activities. This helped but was not enough and soon we were looking for another school.

We learned of a great school in Maryland about 1.5 hours from our home that specialized in helping children with communication challenges. Robert began taking the gel form of testosterone while still taking the ADD medication as his doctors tried to stabilize his focus and concentration. His endocrinologist was less than enthusiastic about the testosterone, fearing it would make him more agressive. When teachers still had concerns about his impulsivity, we tried Straterra and decided to stop the testosterone while we checked out the effectiveness of this newly released drug. We did not want to over medicate and since the endocrinologist was tentative in prescribing the testosterone, we stopped giving the testosterone to him. Looking back, that was another mistake...

Meanwhile, Robert liked his teachers and the shop class with hands on activities in Maryland. We got in a carpool and hoped for the best even though his school days were extremely long. Robert finished out his 6th grade there and when it was over, we assessed his progress and decided that a private school in VA specializing in helping children with learning disabilities might help and would certainly shorten his 12 hour treks going to and from school. With great hopes, Robert enrolled in 7th grade.

How many of you experience one step forward, two steps backward, one step forward and still believe in a ray of hope? What is the alternative??

Choices, Consequences and Connections to a Ray of Hope

Come back with me to July 4, 1995. I sat lounging in a chair, book in hand, with one eye on my 8 year old who was frolicking with a friend in the community pool. I heard the familiar ring of my cell, picked it up and heard the voice of my husband, urging us to come home quick. The long awaited call from Latvia had come in, and if I came home now I could speak to the adoption coordinator who had identified our daughter. Even though it was midday, the fireworks had begun for me and our lives would never be the same.

On that wonderful afternoon, I learned of not only the blond, blue eyed 5-year old little girl who was chosen to make our family complete, but also of her 3-year old cherub looking brother who was also looking for a home. The choice we made that afternoon had consequences that continue to impact our lives. On that day, July 4, 1995, our family of three became a family of 5.

I flew to Latvia in early August, met both Sandra and Robert, delighted in their hugs, their affection and the joy they showed while blowing bubbles, using crayons and running along the beach. In the adoption court, I learned that Sandra had lived with her birthmother for the first four years of her life and that Robert had been placed in the orphanage at birth and had language delays, but these exuberant children were happy, healthy and would add joy to our lives and our connections were cemented. They would come home with me to United States, be met at the airport by their father, and older brother and we would learn to believe in a ray of hope together.

Fast forward 7 years, Greg, our oldest adopted at birth, is now 15, Sandra is 13, and Robert is 11. Both in their teens, Greg and Sandra keep busy with friends and sports. Robert at 11 has been regressing, his 4th grade teacher has told us his reading skills in 5th grade are not what they were in 4th grade. I'm speechless, my worst fears are being realized. I have been complaining for years that the school and Robert's teachers were not meeting his educational needs. My frustration and anger escalate and finally, feeling misunderstood, I turn to our family doctor, who in turn refers us to a neurologist who runs a wide variety of tests on Robert and in the process, we recieve the diagnosis of Klinefelter Syndrome (KS), 47 XXY.

In learning about KS, we learned that boys like our son, Robert, who have an extra X chromosome often experience language delays, learning disabilities, and are misdiagnosed with ADHD or ADD. Finally, Robert's reading challenges, communication difficulties, frustration and emotional outbursts have a name and begin to make sense to us all. Finally, with the diagnosis, we feel a sense of relief and begin to see a Ray of Hope. Finally, we are able to stop pointing fingers, blaming the teachers, and are able to begin taking actions to serve the needs of our son and the needs of our family.

When have you made choices, faced consequences, and connected to a Ray of Hope?