One Woman’s Journey to a Correct Diagnosis

Fall 2006 – With the support of her family and determination to discover the truth, Christi avoided unnecessary surgery and obtained a correct diagnosis…but only after paying doctors out of pocket, sending her tumor samples to three different pathologists, and facing the possible loss of her jaw.

Christi’s Story
A Case of Misdiagnosed Chondrosarcoma at the Maxilla

As you may know, the pathway to getting a correct diagnosis with something as rare as chondrosarcoma can be very difficult. I would like to share an overview of my experience in hopes that it may help someone else on their journey.

In April of 2005 I went to an orthodontist to see about having a retainer made because my front right upper tooth had been slowly moving down and back. It was very slight and when I pointed it out to people they couldn’t even tell. I was told that I would need a full set of dental x-rays first to make sure that there was no underlying problem. I had been avoiding dental x-rays for the past five years because my teeth seemed great. On the x-rays the orthodontist noticed a shadow or radiolucency above the tooth I was concerned about. He said that I needed a panorex full mouth x-ray and sent me to an oral surgeon. At the same time he noticed that I needed a root canal on a back molar (which I had done) and also sent me to an endodontist. The oral surgeon told me that the panorex showed a cyst above my teeth and said that I needed a CT scan to see if it extended into my sinus. At this point my dental insurance maxed out and I began to try to use my medical HMO. I won’t go into the details of that but do want to share a lesson learned.

The HMO was a nightmare, and stalled me getting the help I needed at every point. They denied my getting a CT scan and wanted me to see their ENT (ear, nose, and throat) doctor who was gone on vacation. They then referred me to another ENT who pressured them into getting me the CT scan. When it came time to review the results he was gone on vacation. When we finally met he said that my right sinus was almost completely blocked and began calling this a tumor. He referred me to an Oral Surgeon but the HMO fought fiercely and insisted I go back and see their original ENT who had been on vacation. This doctor had to pressure the insurance as well and finally got me to an oral surgeon. I was told that the root canal had possibly abscessed into my sinus.

I cannot begin to tell you how stressful and difficult the insurance made it at every turn. In the meantime, I went to 3 oral surgeons on my own and was considering selling my condo and paying for surgery myself just to get rid of the tumor and find out what it was. So in August, after 4 months of fighting them, I finally had the surgery to remove the tumor. My doctor said that it was an Odontogenic Keratocyst which is a very destructive and locally recurring benign tumor. He said that the insurance pathology was not very good and asked if I wanted to pay extra to have it sent to oral pathology at UCLA, which I did.

Two weeks later he called me into his office and asked me to bring a family member with me. He then informed me that UCLA had given the diagnosis of chondrosarcoma, grade 1. I was completely devastated. He referred me to a head and neck surgeon at UCLA and told me that I would need another surgery to go in and get clear margins around the area, with a pathologist there to check each section during the surgery. I then went to see the surgeon at UCLA who explained to me that in order to get clear margins I would need to have a maxillectomy. This would involve the removal of my upper jawbone (maxilla) along with all my teeth from the front to the back on the right side. It would also involve the removal of the roof of my mouth (hard palate) and possibly my cheekbone.

I then found out that, depending on the extent of the damage, patients may also lose their eye. I would be given an obturator (denture and plastic roof of mouth that is removed during the day for cleaning and at night). It would be unable to eat or speak without it. I was again devastated! But, also, hopeful that I could live in spite of the cancer. I was so anxious to have the surgery that I had packed my suitcase, and brought it with me in case they could check me in that day for surgery. That was not possible. They had already scheduled me for surgery the following week. The day after this appointment I learned that UCLA pathology had changed my diagnosis. Apparently, after more stains, and having other doctors view the slides, they determined that there were Chondroid features to the tissue, and they now diagnosed Chondroid Chordoma, grade 1. They explained that the bone part of the specimen had to be soaked in a solution that took a week, or so and they wanted the input of other doctors. So that is why it had taken longer to come to this conclusion.

At this time my family strongly encouraged me to get a second opinion. I was so broken emotionally, that my siblings were researching things on the internet for me. Elizabeth Munroz’s website and the chondrosarcoma yahoo group were among the first things they found. I was in such a dark place in my life and had been unable to eat or sleep after the diagnosis. I called Elizabeth and for the first time felt hope. Talking to a survivor was definitely what I needed. I will be forever grateful to her for all she has done to help others who are facing this rare disease.

I really felt rushed to get the cancer out, but decided that my family was right about getting a second opinion. We also made the decision to switch from an HMO to a PPO. This was scary to do in the middle of the situation, but it was one of the best decisions ever. No more red tape, just go to the doctor and have done what you need.

I then flew to Houston to go to Dr. Ehab Hannah at MD Anderson. He is an expert in skull based tumors, which is where most chordomas are located, and has worked with Dr. Al-Mefty of Arkansas who is a leader in the field.

By this time, I was very concerned that the jaw and sinus might be a secondary sight and that I could have a chordoma of the skull base or spine. I began to understand that chondrosarcomas and chordomas have many similar features, and some even refer to them as twins. To clarify this I had my pathology sent from UCLA to Dr. Krishnan Unni of the Mayo Clinic. He is an expert in bone pathology and especially with these two rare cancers.

I then proceeded to have every part of my body tested at MD Anderson. Everything was clear and they concluded that it was a chordoma even though it is highly unusual to have one in the sinus and jaw. They recommended do the maxillectomy as well, but suggested that we extend it to an 18 hour surgery and remove bone and tissue from my lower leg in order to make a micro vascular flap in the roof of my mouth. The femur could be used as a jaw bone. This would allow me to have a roof in my mouth without an obturator, would maintain the shape of my face, and may give the possibility of having dental implant later. I was thrilled to be given this option and scheduled the surgery for a few weeks later.

Then, I heard back from Dr. Unni. He said that it had to be chondrosarcoma; it just could not be a chordoma in that location. I decided that, either way, I needed surgery. I could now rest knowing that it was the primary site. I then flew back to UCLA for a Tumor Review Board. A team of about 35 doctors met for the day to review my case along with a few other patients’ cases. I was only able to be present for a tiny bit of the meeting. They put my pathology and x-rays on a large screen and discussed everything. At the end of the day my surgeon said that there was enough uncertainty about my pathology to cause them to want to do another biopsy. Because they had scheduled me for a maxillectomy for the following day they said that we could use that surgery slot to do the biopsy. They wanted more bone to study. So, I had the surgery.

In the meantime I had found a website for the pathology team at Mass General Hospital in Boston at Harvard. Mass General is one of three proton beam radiation treatment centers in the US. (MD Anderson will open another major facility in January 2006) Because of the number of patients that go there for treatment for skull base tumors, their pathology center sees more specimens of chordomas and chondrosarcomas than any other institution. They have found that up to 37% of the tissue sent to them has been misdiagnosed at the primary institution. They have electron microscopes and other special testing equipment that other pathology labs usually do not have.

I called UCLA and they agreed that my tissue should be sent there. Two weeks after the second biopsy, my surgeon called to say that they were thinking that my tissue was actually benign and had some ideas about what it might be, but they wanted to see what Harvard thought. When we finally heard back from Harvard they gave a diagnosis of a benign tumor, myoepithelioma.

You can imagine what a huge turn of events this was for me! My UCLA surgeon will now monitor the situation and I am to come back in 3 months for a check up.

A few points I would like to share in hopes that they may help others.

• If at all possible get on a PPO health plan or pay for the best doctors out of pocket.

• All treatment hinges on a correct diagnosis from the pathology. If there is any question get a second opinion on the pathology.

• Always get a multi-disciplinary second opinion when diagnosed with any cancer. When it is a rare cancer, you must do the research to find doctors and institutions that are experts with this particular cancer. At this site, read “A Letter to all Newly Diagnosed Cancer Patients.” There is a click-through link to a list of institutions that offer multidisciplinary second opinions.

• You have to be your own researcher and advocate, or have a family member or friend who can serve as one for you.