Friday, August 07, 2009

A Tough One

While struggling to write a newsletter article about Steven's diagnosis, I was forced to re-live those early, emotional days of Steven's illness. Those days were tough.

Writing about them was even harder.

But here it is.

Diary of a Diagnosis

Steven began complaining of dizziness in December, 2004. I tended to ignore his complaints, as he seemed to be a very healthy boy, and I assured Steven that he would feel better if he slept more and drank more water. However his father, Dale, decided that further investigation was needed, and he took Steven to the pediatrician in January of 2005. Through various tests done that day, it was discovered that Steven had a lesion in his cerebellum that was likely vascular in nature. MRIs were done and neurosurgeon appointments were scheduled.

With one office visit, Steven’s life was literally thrown into a world of unknowns.

Our first trip to the neurosurgeons office prompted more questions than answers. The doctor alluded several times to two genetic illnesses, neurofibromatosis and tuberous sclerosis, that could be responsible for the two small lesions seen in Steven’s brain. However neither MRI results, nor the findings on Steven’s physical exam, nor our answers to the many questions provided a clear path for diagnosis. The only firm answers that we received to our many questions that day were that Steven was neither to play soccer nor drive until the doctor had a better idea of what was causing these lesions.

The neurosurgeon kept the MRI films to confer with the radiologist at the children’s hospital. The recommendation from the radiologist was that Steven’s spine and kidneys should be scanned. The radiologist was looking for more tumors, indicating a different genetic disease, von Hippel Lindau syndrome, as a possible diagnosis. These further scans came back negative for tumors. At the follow-up visit, the neurosurgeon indicated Steven most likely did not have von Hippel Lindau disease. She also reaffirmed that she was 90% sure that these lesions were benign tumors. However without a biopsy she could not tell us the nature of these lesions and associated edema. We opted for a definitive answer, and a biopsy with possible tumor resection was scheduled for February, 2005.

The surgery proceeded without any complications. The results, however, were surprising. The neurosurgeon met us in the family waiting room with the news that while she saw tortuous and unusual vascular structures in Steven’s brain, there was no tumor to be found. Though I couldn’t believe the news, she felt that the lesions on Steven’s MRI films would be consistent with these odd, serpentine vessels. We met Steven in the PICU and had to share with him that this horrible surgery did not go as planned and tumors were not removed.

Our sweet boy was now living in a world of inconceivable.

At this point the radiologist who had originally looked into but discounted von Hippel Lindau disease as a possible diagnosis felt that a cerebral angiogram was an appropriate next step in solving the mystery of these lesions. This too was done at the children’s hospital, and while Steven was being tended to after the brief procedure, the radiologist discussed the findings with me. He described two areas of “blush stain” on the angiogram that indicated that the lesions were small tumors called hemangioblastomas.

That evening I immediately began researching hemangioblastomas. I learned that the unusual tortuous vessels that the neurosurgeon viewed in Steven’s brain were associated with hemangioblastomas. More upsetting, however, was the mention in an article that the presence of multiple hemangioblastomas was indicative of a clinical diagnosis of von Hippel Lindau disease. That evening I read of the devastation of VHL for the first time.

That night the struggles that Steven would face in this new life seemed insurmountable.

The next three months were spent filling our time with visits to the pediatrician, conferring with an ophthalmologist, submitting blood and urine samples, and scheduling a second opinion with a different neurosurgeon while we waited for the most important visit to the geneticist. The genetic counselor and the geneticist reiterated the information that I had read weeks earlier. The discussion revolved around tumors and genetics, surgeries and statistics. And while the doctors never mentioned life-expectancy, I knew from my son’s questions that day that he too had picked up a bit of information from the internet. Blood was drawn and sent away, and we left with still a bit of hope that the two hemangioblastomas could simply be a bit of bad luck, a chance occurrence.

The final answer was delivered on May 11, 2005 when the results from genetic testing showed a deletion of three bases from the VHL gene.

Our sweet, brave son’s life changed forever to incurable.

Sometime during those early days of diagnosis, I realized that Steven was in for a long and arduous battle for his life. I also knew that how he chose to fight this battle was nearly as important as the outcome itself. I did not want Steven to live an unknown, inconceivable, insurmountable life with an incurable disease. I wanted Steven to face the impossible with hope. I wanted Steven to live a beautiful life in the face of a monstrous disease.

That he has.


Britt-Arnhild said...

Thank you Beverly for sharing this information which changed the life of your son and you all.

Becky Smith said...

How well I relate to your Diary of the Days of Diagnosis. When Sarah was diagnosed Stage IV Neuroblastoma, I couldn't even begin to put a name on all the emotions I was feeling--for myself and on her behalf. You brought back those memories.

Thank you for sharing your story and your son.



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