Living With a Rare Disorder

“This website is dedicated and available to all families who live with any Rare Disorder.”

This website is dedicated and available to all families who live with any Rare Disorder.  If you are not seeing positive results from your current treatment program and feel as though there is nowhere to turn, please consider the information and resources addressed here. Your advocacy is more vital to your child’s quality of life than you may currently be aware.

Families living with a Rare Disorder may struggle to obtain information which may be impactful to the care of their loved ones. HIPAA provides us with many privacy benefits which safeguard our personal information; however, I feel HIPAA also creates additional challenges for this rare group of individuals. One main struggle is simply trying to locate another family you may wish to communicate with. We felt isolated for many years.

For the commonly known disorders, such as Cancer, there is a plethora of information available for anyone to read. And it is relatively easy to find a support group for emotional issues. However, if you are dealing with a Rare Disorder there may be little information available from any communication-based media source.

“With around seven thousand Rare Disorders identified, less than ten percent of these disorders have an FDA approved treatment plan.”

There is no attempt in the content of this website to slight the medical community in any way. I am very sympathetic towards our medical professionals. They, however, are practicing physicians and not researchers; I fully understand. My message to our medical professionals suggests that for individuals with a Rare Disorder, doctors should perhaps look out-of-the-box for an optimal treatment approach.

Why? Because there are no FDA drug approval studies in which individuals with rare disorders were the main participants. Please keep in mind my concerns are mainly for those individuals with any rare neurological disorder. Couple this last thought with the reality that there are individuals who have not had any success with a standard drug treatment program. How many times do we need to see failed results before we realize they don’t work for our loved one? Taking a step out-of-the-box is certainly not an easy step to take but has the potential of improving the quality of life for one very special individual.

 With around seven thousand Rare Disorders identified, less than ten percent of these disorders have an FDA approved treatment plan. Doctors will treat a secondary diagnosis (such as Epilepsy) regardless of the main diagnosis. It just may be that the main antagonist for the secondary diagnosis is the primary diagnosis. Please give careful thought to every aspect of a treatment process.

A Rare Disorder is one which affects two-hundred thousand individuals or less on a global scale. Our daughter’s rare disorder affects only one in thirty-nine million individuals. She has not one, but two Cortexes separated by a small layer of white brain matter. Needless to say, we have found no one who has any personal contact with anyone else living with Double Cortex. Yet the medical community uses an Epilepsy treatment plan designed for the general population who all have one Cortex.

“This website is designed for families and advocates alike to start new conversations.”

Standard treatment protocol for Epilepsy has not produced a positive outcome for our daughter. Treatment plans outside of the approved FDA treatment box are not on the treatment table. If you have a loved one who has not responded well to standard treatment plans, you need to do more research on your own. Please do not feel overwhelmed by this last statement. Learn one day at a time and you will be amazed at the results. Our daughter is now seven years older than the documented oldest survivor for her diagnosis. You can make a difference.

This website is designed for families and advocates alike to start new conversations, and I hope you will find information here which is of interest to you. I would like to dialogue with you through the communication page provided if you wish. Sharing with others not only supports the learning process, but it also promotes peace of mind. This site is a tool for you, and it is here for you to use. Nothing shared via this site will be shared anywhere else without your personal approval.

I have always tried to live as one who is a life-long-learner; learning should not end with a formal education. And remember that knowledge is not wisdom; knowledge is sedentary until it is applied. A good result will be remembered as a wise choice and a poor result… (you get the idea). There is another saying which states – there is strength in numbers – this is also true, and together we can improve our entire family’s Quality-of-Life.