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Diagnosis

Prenatal Diagnosis

We are here to help and to listen to all your worries and concerns.

We would like to share our 20 years of experience of boys and girls with X and Y chromosomal Variations with you. You must be scared and concerned –what will happen in the future? What does an extra X or Y actually do? What will my baby look like—me or my husband or totally different ? You have million questions and seemingly no answers? But we can help–below are some of the common questions we have been asked by many many families over the years.

Your Concerns

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No, typically boys and girls with an extra X and Y and boys with 47,XYY can do very well. Many of these children will enter first grade with few discernible problems. Their parents WILL NOT even reveal that there is additive X or Y because there are so few issues.

No, these boys and girls look quite typical when there is only one additional X. They are often very attractive and several of our babies have modeled!

The babies with X and Y chromosomal disorders do need some special services but typically they need specialized services for short periods of time. With this extra support and guidance, the boys and girls do very well in school and life. They often need additional help here and there throughout their life until that they are young adults. It can be very little such as tutoring for reading dysfunction or extra time for testing. Some children need an IEP but this is less common in the prenatal diagnosed child.

Typically, many babies receive physical therapy between 8 and 18 months. The babies may receive speech and language therapy between 18 months and 36 months of age.

Yes, many children do very well in their local elementary schools. Boys and girls with X and Y chromosomal disorders learn better in smaller classes so many families elect to enroll in private schools for their children with an additional X or Y.

Early Hormonal Treatment (EHT) is short term Testosterone biological treatment for boys with XXY. Boys with 47,XXY ( Klinefelter syndrome ) are deficient in Testosterone, a very important hormone for boys. The hormonal deficiency effects brain development, speech and language skills, bone health and neurocognitive development. We have published several articles on the benefits of EHT both short term and long term. Please visit our research page to review the articles. Contact us if you would like these articles to share with your physicians.

You should talk talk to your child’s pediatrician and then a pediatric endocrinologist. Please consider taking our articles to your doctors so they can receive the most current information regarding your son.

Typically boys with XYY and 47, XXX do not receive EHT at this time.

It is uncommon that children with these disorders require a tremendous amount of therapeutic support and care. Typically, if problems are addressed when they first appear then there will be no major issues. But small disturbances become significant dysfunction if not addressed quickly and appropriately.

Our Hope

We believe that boys and girls with X and Y chromosomal disorders can be independent and empowered adults when they are given appropriate services in timely manner.

We also believe that EHT is very important for all boys with 47,XXY and without EHT, they struggle more in development and health.

Our hope is that every one of our children with X and Y chromosomal disorders will develop very well with the proactive care rather than reactive care. So small problems are identified early and quickly so the each and every child will reach their optimal potential.

We have the road map to sucess for these boys and girls with X and Y Chromosomal Variations. With the proper help, targeted treatment and syndrome specific goals, these children will do very well. They are bright, talented and delightful children who will contribute to their family, their community and their world in meaningful manner. Have great hope in your child and his or her outcome.

Diagnostic Odyssey

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Testimonials

Together, anything is possible

What You Can Do Now

If you have had a prenatal diagnosis or feel you may have a child with developmental delays or developmental dysfunction the following options are designed to help you towards the next step in treatment or early diagnosis.

RESEARCH

Take The Child Questionnaire

QUESTIONNAIRE

DIAGNOSIS

Learn About Chromosomal Microarrays

Chromosomal Testing

TREATMENT

Begin Syndrome-specific Therapy

ARRANGE A CONSULTATION