Thursday, August 26, 2010

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:


"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,


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