Cal was five years old when he passed away on December 13, 2006. But for three years preceding his death, Cal suffered a gradually progressive course of declining heath that took him from a walking, talking, happy two year old to a little boy trapped in a body that was wasting away. He lost the ability to walk on his own, he suffered from several broken bones from simple falls, chronic vomiting, constipation, deteriorating fine and gross motor skills, diminished ability to eat on his own, failure to thrive, and seizures to name a few. When Cal died, he was a shadow of his former self; he suffered in silence because he also lost the ability to speak. The only way he could communicate with his family, friends and doctors was through facial expressions, body language, and various other signs of emotion such as crying or laughing.
For three years I sought in vain to find someone who could tell me what was wrong with him. Over and over again, I was told, “We can’t tell you what this is, but we can tell you what it isn’t.” All the tests we had run did nothing to further our investigation, but only planted us right back at square one every time. Even more distressing was the fact that each of Cal’s specialists cited statistics as to how many children they had seen within their respective practices that they could actually render a diagnosis for. Cal’s neuromuscular specialist told me that he could only diagnose 40 to 60 percent of the children he saw. The genetic counselor also told me that they were only able to diagnose 50 percent of the children they saw, the other half severely affected by some unknown disease like Cal.
I also asked several of them if there was any way for me to promote Cal’s case to the general public, because I could not believe that Cal was the only child on God’s green earth that had whatever disease it was he had. Someone, somewhere, had to have seen a child like Cal before. Each time I asked, I was told that there was no such way to get Cal’s case out there. Maybe one doctor would “by happenstance” speak to another doctor at a convention or something, but that was about it. So, we were continually sent home with no hope, no plan, and with no idea of what would happen next. I knew in my heart that my son was dying, and I felt consumed by the sense that his time with us ticking away. Yet there was not a damn thing I could do about it. Nobody seemed to have the same sense of urgency to save Cal’s life or find an answer as I did. On December 13, 2006, as I held my son in my arms, as he took his last breath, I vowed that I would do whatever I could to make sure that what Cal went through would not be in vain. That I would help other children like him, so that they and their loved ones would not have to go through what he and I did.
Today, most people take for granted that there is a diagnosis for everything. People can’t grasp the concept that Cal did not have a diagnosis. How, in this day and age, could a little boy die and none of his doctors be able to ascertain the cause? It is because of this mindset that those who are undiagnosed fall through the cracks in our current health care system. With the big fight to reform our health care system, we have been focusing on costs, quality, and access. However, there’s a group of people out there who feel they do have access to affordable, quality health care, and the system has still failed them.
Parents of undiagnosed children are continually set to sail in the dark; adults suffering from undiagnosed diseases don’t fare any better. Whether you are a child or an adult, unless you have a diagnosis that the doctors can work with, you don’t have an identity. And without an identity, you don’t exist and you surely don’t receive the benefit of the research and resources afforded to those suffering from a diagnosed disease.
Through my own research I found that there is no one agency to which all undiagnosed cases are reported. As a result, there are no viable statistics on the numbers or types of undiagnosed cases there are within the United States – much less any on-going research into the issue. The National Human Genome Research Institute cites on its website:
“Physicians will sometimes say that a child has an “undiagnosed rare condition” or an “undiagnosed genetic condition” when they are unable to find a diagnosis for certain characteristics or symptoms. In fact, finding an underlying diagnosis for many conditions can be a very long and frustrating experience. A diagnosis can take as many as five years, and occasionally may never happen, especially with rare conditions. In addition, some experts say that between 30 to 40 percent of children with special needs do not have an exact diagnosis.” (http://www.genome.gov/1751
So, I came up with the idea for an Undiagnosed Disease Registry. I thought that if we could have other disease registries, such as SEER registries for Cancer, why not one devoted to undiagnosed cases?
In May/June 2008, I approached doctors at the NIH Undiagnosed Diseases Program and at the Office of Rare Diseases about my idea. Needless to say, that initiative did not take root. While these docs are great at what they are doing, they were not interested in helping me get the Registry developed and put into action.
So, I then proposed the idea to my State Representative. H.B. 2294: Texas Undiagnosed Reporting Act was proposed by State Representative Dan Gattis during the recent Texas Legislative Session. However, the bill did not get passed.
Not putting all my eggs in one basket, I also contacted my U.S. Representative John Carter. In May of 2009, Representative Carter proposed H.R. 2538: The Charles August “CAL” Long Undiagnosed Diseases Registry Act of 2009. If passed, this legislation would require the CDC to create a National Undiagnosed Diseases Registry. Right now H.R. 2538, the CAL Registry, is sitting with the House Committee on Energy and Commerce. The bill has five co-sponsors and Rep. Carter’s office is actively recruiting others. Unfortunately, the current health care reform debate is taking a lot of our Congressmen/women’s attention so Cal’s bill is not moving like I would have hoped.
I have a Facebook Causes site called Project Considering All Lives which currently has over 1,000 members. I use this as a tool to get the word out about the bill and encourage the members to reach out to their Representatives and request that they co-sponsor the bill and help it get through committee etc.
I fondly refer to the Registry as "The CAL Registry" because NUDR just does not have that special ring to it. It is my hope that when the CAL Registry gets created, all of the undiagnosed cases will start to get the attention they deserve, and then maybe resources and research will follow. I can only hope that the work I am doing will someday be the beacon of light guiding those sailing in the undiagnosed waters so that they can find their way to a safe harbor.
Aside from my work on the Bill in the House, I am also working on getting a National Professional Physicians Networking site built called CALLABOR8.com.
Louis Lasagna drafted the modern version of the Hippocratic Oath in 1967. One of the oath components was a paragraph that stated, " I will not be ashamed to say "I know not," nor will I fail to call in my colleagues when the skills of another are needed for a patients recovery".
CALLABOR8.com will be the first physician networking site of its kind. There are other sites out there for physician to physician networking but they are not devoted solving undiagnosed cases. CALLABOR8.com would work like a cross breed of E-Harmony, Match.com and Realtor.com all in one. Primary Care Providers handling undiagnosed cases will have the ability to register their case, enter in certain information about their patient (not revealing the individual's identity) and CALLABOR8.com will give the physician a listing of other cases that best match the case he/she is working on. Then the physician can contact the other physicians with cases in common and start COLLABORATING on them to the benefit of the patient.
Only time will tell if either of these initiatives will come to fruition, but I have the time and I hop that it does not take too long since every day that goes by is another day lost by those suffering from an undiagnosed disease.
