A Pain with no Name

By Heather Long (Guest Blogger)

I wish that I were able to say that my son, Cal, had fought cancer, cystic fibrosis, muscular dystrophy, leukemia…SOMETHING! But I can’t… I know that sounds strange. Why would a mother wish that she could say that her child had to battle any of these diseases? If you were a mother in my shoes, you might also wish this, as an alternative to being forced to say, “I don’t know what my son had, but whatever it was… KILLED him.” At least if I had a name for the disease that took Cal’s life, I would have some closure. I would have something tangible to wrap my mind and my heart around. Not knowing what it was that killed my son is a perpetual source of physical, emotional, and mental anguish.

Heather and Cal

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/17515951)

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? I first 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. 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.

———————————————————————————-

The National Institutes of Health does offer an Undiagnosed Diseases Program. For more information visit their website here:

http://rarediseases.info.nih.gov/Resources.aspx?PageID=31

Please note that Rare Disease Day is coming up February 28, 2010.
Rare Disease Day
If you would like more information please visit the website http://www.rarediseaseday.org: or Facebook page: http://www.facebook.com/rarediseaseday2010

If you have any questions, feedback or other stories to share please submit a comment via the links below:

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~ by marbleroad on February 9, 2010.

6 Responses to “A Pain with no Name”

  1. I am so sorry for your loss. I am thankful I found your site through the National Rare disease facebook site [http://www.facebook.com/rarediseaseday2010]. My 9 year daughter has an UNDX autoimmune inflamatory diease. We have been going to NIH for treatment since ’03 evey 3-5 months. When I read the first paragraph I wanted to shout “I HEAR YOU!” She is calling for me, but I will be back. I have been active in our state with legislation (had worked with Ted Kennedy before he passed). We need to talk!

    • Hoping you are doing alright. Wanted to let you know we are holding a little contest – the Rare Children’s Storybook Project… A children’s book about the effect a rare diagnosis has had on your family could earn you $750 to help with health care related costs. Please scope it out over at http://www.myrarestory.com!

  2. […] on the MarbleRoad blog in February via a guest post from Heather Long who lost her son to an undiagnosed disorder: So, I came up with the idea for an Undiagnosed Disease Registry. I thought that if we could have […]

  3. […] shared on the MarbleRoad blog in February via a guest post from Heather Long who lost her son to an undiagnosed disorder: So, I came up with the idea for an Undiagnosed Disease Registry. I thought that if we could have […]

  4. […] in February 2010, Heather Long was a guest blogger on the MarbleRoad blog site. She talked about what it was like to sit and watch her son’s life be […]

  5. […] in February 2010, Heather Long was a guest blogger on the MarbleRoad blog site. She talked about what it was like to sit and watch her son’s life be […]

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