There are experts that say 30 to 40 percent of children with special needs do not have an exact diagnosis. This to me is a guess and we cannot fully appreciate the prevalence of the undiagnosed situations that many children face, until there is an opportunity to collect and share data about children that are faced with many signs and symptoms where a diagnosis hasn’t been determined.

Without knowing the prevalence of undiagnosed children, they will not get the attention they deserve. Children will continue to face some very serious medical problems without any information that may guide the doctors to a treatment. The effects of undiagnosed conditions on a child can range from mild issues to very serious issues that can even cause death. We may not know if the issues or deaths could be prevented if a diagnosis was determined beforehand. We shouldn’t have to wonder if a child’s death could have been prevented by knowing what the diagnosis was.

Such as in the case of Cal who was a five year old boy, whose mother had to watch him spiral downward for three years until his death just after his fifth birthday. After the death of Cal, Heather searched for answers to what mysterious disease caused the death of her son. After discussions with others the thought of a database to collect and share undiagnosed cases was prevalent in her mind. She set out to see how to get such a database to Heather and Cal Longbecome a reality, in the name of her son Cal, an act was brought to the US government. The Charles August ‘CAL’ Long Undiagnosed Diseases Registry Act of 2009 was introduced to the US House of Representatives, and is waiting to reach the floor for a vote. Read this in the News

The registry will not change the outcome for Cal, but a diagnosis even after death can help the family know whether this can happen in their family again. It may also help many other children experiencing the affects of an undiagnosed condition, like Elijah who was recently in the news. He is two year old boy who has no diagnosis for his many signs and symptoms. Read this in the news.

The registry will create opportunities that could allow for better chances to make a diagnosis or connect undiagnosed cases that are similar. The registry will not only have great potential for doctors to gain more information that will allow them to better treat a child’s condition, it also has the potential to save a great deal of tax payer money.

Many children with special medical needs are covered by variety of government insurances. Children with undiagnosed conditions are sLorna Clugstoneeing many doctors and having many tests. Such as in my own daughter’s case, Lorna is 13 and has the affects of a undiagnosed syndrome. I have kept track of her many specialty appointments and tests since she was born, she is up in the 200’s now. There is no question that children like my daughter will be seen by a lot of doctors and have many tests anyway but there is a good chance that many doctors’ appointments could be prevented by having a proper diagnosis and a better understand for what is affecting the child.

It will be a combination of programs and opportunities that will create better opportunities for those with undiagnosed conditions to get a proper diagnosis. Just last year the Undiagnosed Diseases Program at the NIH was started to begin researching these cases bringing professionals together to discuss one case at a time. This was the beginning of changes, now is the time to step it up with the registry and start moving toward bigger changes.

You can read the bill language here.

These are the key pieces of the bill.

1.    The Secretary, through Center for Disease Control and Prevention (CDC) shall establish and maintain a undiagnosed disease registry.

2.    The Secretary shall include in the registry the information that they deem appropriate, relating to undiagnosed diseases.

3.    The information will be public, but will not publicly disclose identifiable information or trade secrets.

4.    There will be designated $5,000,000 for 2010 and may be needed for following years of 2011 through 2015.

5.    The Health and Human Services shall see that it becomes operational no later than a year after enactment.

If you feel strongly about this bill you should voice your thoughts to your representative. You can find who your representative is and how to contact them by going to The United States House of Representative’s website at

Amy Clugston, mother and director, SWAN

1 thought on “Undiagnosed Disease Registry – Take Action!”

  1. Anonymous says:

    I support this bill and wrote my representative today!

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