About the Registry

Mission Statement

The Chromosome 18 Registry & Research Society is a lay advocacy organization composed primarily of the parents of individuals with a chromosome 18 abnormality. We consist of three separate organizations located in the United States, Australia, and Europe, all with a common mission: To help people with chromosome 18 abnormalities overcome the obstacles they face so they may lead happy, healthy, and productive lives. We are proud to count among our members those who are affected by a chromosome 18 abnormality, extended family members, and professionals. Membership is open to any interested person. We are a 501(c)(3) non-profit, tax-exempt public charity.

Our work is supported by memberships and donations from individuals and charitable organizations. We have met the strict criteria for fiscal responsibility set by the Combined Federal Campaign.

Welcome Letter from the President of the Chromosome 18 Registry & Research Society

To the parents of a newly diagnosed child:

Your baby was just diagnosed with a chromosome 18 abnormality and you may feel like all your dreams for your child just came crashing down. However, we are here to tell you that this is not a negative life event; but rather a change in plans. We are here to catch you, inspire and support your new dreams for your child and for your family. Welcome to our chromosome 18 family.

Through our organization you will be able to meet other families. From them you will find people who know exactly what you are feeling. They have already been in the place you are now. You can meet them through our Caregiver Message Board, Facebook group, regional get-togethers, and our Annual Conference. In addition, some of our families have posted their stories on this website. But know that you are not alone.

Through our organization, you will learn the absolute latest in medical and scientific research on the syndromes of chromosome 18. We have taken to heart the saying that the best way to predict the future is to invent it. We have a lot of questions we want answered and we are actively pursuing those answers. We created and support the Chromosome 18 Clinical Research Center at UT Health San Antonio.

Our goal is to enable the following scenario when a family discusses the results of their new baby’s chromosome analysis. The doctor can say:

Your child has a rare chromosome abnormality involving chromosome 18, but:

  • This is a well characterized condition.

  • The molecular analysis tells us that your child is not at risk for the following things associated with the condition.

  • The molecular analysis also tells us that we should

    • watch for the following possible problems

    • begin the following therapies now.

  • With consistent intervention, your child can grow up to experience a full life with all of the possibilities that your other children enjoy.

  • There is an active organization of families (The Chromosome 18 Registry & Research Society) who can help you make sure this happens.”

This scenario is becoming a reality because the parents who came before are making it happen.

I would encourage you to read the materials on this site about genetics and chromosome abnormalities. This will provide you with a better context when you read the information on your child’s syndrome. The syndrome information is intended to be comprehensive as opposed to painting a picture of any one child. This way, you and your healthcare team can know what to monitor. Hopefully there will be many things on the syndrome list that you can eliminate as possible problems.

When you call or email the Registry office you will be talking to our Director of Operations, Leah Gransbery.  Leah will be happy to provide you with more information about our organization and about potential research participation. When you have additional questions, please don’t hesitate to call. We look forward to meeting you and are looking forward to many exciting years together. Again, welcome to our family.

Sincerely,

 

Jannine D. Cody, Ph.D.
Founder and President