Living With a
Information and Resources
For all families who live with any Rare Disorder.
No parent expects to hear the words “Rare Disorder” after the birth of their long-awaited beautiful child. It may change… no it will change your life. The key word here is “Rare”. With around seven thousand Rare Disorders known, over 90% have “No” FDA treatment plan and to be honest about it, there may never be a treatment plan during your child’s lifetime. It is a lonely position to be in but know that you are not really alone at all! You are your child’s main advocate along with thousands of other parents around the globe.
The Medical community will do all they can to treat conditions (such as Epilepsy) which impact daily life, but there is concern regarding the validity of a treatment plan for an individual who’s main diagnosis is not clearly understood. How can you treat someone optimally when you don’t understand the cause behind the condition? Well, treatment does happen, and it is a conundrum because doctors can’t refuse to treat. The burden which drives clarity rightfully falls on the parents.
Our daughter, Joy, at one point in her life was having over eighty strong seizures each and everyday for two and a half years; and now has one to two dozen seizures in a month. Your input can be life changing.
If you are not currently keeping a medical journal, I strongly recommend you begin. This process has little to do with you remembering events, but everything to do with communication. The medical community shows restraint when parents share information starting with terms such as “I think” or “I feel”. Treatment plans are formulated according to medical facts and data. If you have events documented and thereby have a visible history supporting your statements, they will be of greater value in influencing your child’s treatment program. For the purpose of having a quick reference I also suggest keeping a special monthly calendar and posting all significant events on it. Glancing through the calendar may reveal patterns of events which you may not have easily identified from the journal entries. Fully understanding an individual’s medical history has untapped potential in the development of an optimal treatment program for your child’s future.
This website is here for you, I offer no direct medical advice for your loved one. I focus on organizational skills and clarity of thought. When an event occurs, always ask the question “Why? Why did this happen? Has it happened before?”. If your family is one of the few faced with your unique challenge, please know that the doctors will do their best to help, but also be aware that there are other sources of support as well.
This venue is here to begin new conversations between families and professionals alike. We can work together to provide a better quality of life for our loved ones.