Just a brief history...for all new to Steven's journey.
Steven began complaining of dizziness in December of 2004. I tended to ignore these complaints, assuming he wasn't eating well or sleeping enough. Dale, Steven's dad, decided that more action was needed, and he took Steven to the pediatrician in January, 2005. An EKG and a CT scan were ordered. While both tests indicated abnormalities, the issue with the EKG was quickly resolved with a quick visit to a cardiologist. Steven's heart proved to be as sweet and healthy as ever!
The abnormal CT proved trickier. An MRI was scheduled for the following Monday, and I was directed by the pediatrician to schedule an appointment with a pediatric neurosurgeon ASAP. The CT indicated an abnormal vascular structure in my son's brain.
Our visit at the neurosurgeon's office prompted more questions than answers. The MRI revealed two small and compact lesions, one being in the cerebellum and one in the brainstem. Steven was poked and prodded that first day, and I was questioned about his overall health, his learning abilities, and family history. Neither the MRI results, nor the findings on Steven's exam, nor my answers to the drs questions provided a path for diagnosis or furthers treatment.
After speaking with a radiologist, the neurosugeon decided that we should scan Steven's spine and kidneys. The radiologist was looking for more tumors, indicating a disease called von Hippel Lindau syndrome.
These tests came back negative, except for that pesky little "incidental" cyst on the pancreas. At the follow-up visit the neurosurgeon it was decided that the cerebellum tumor could safely be removed and biopsied, and the surgery was scheduled for February 24th.
After a grueling night in PICU, Steven made a remarkably fast recovery. His only complaint by day two was that he had to stay in the hospital until the cerebral angiogram was performed. This test was done to look at these unusual blood vessels.
Tuesday, March 1, 2005, at noon our questions were answered. The cerebral angiogram was done under anesthesia at Children's Hospital. The radiologist met me in the waiting room with a description of what was seen. The angiogram showed two small "blush stains" in the areas where the tumors were seen on the MRI, indicating hemangioblastomas were growing under those tortuous vessels.
I immediately began researching hemangioblatomas that same evening. The tortuous, serptentine vessels seen during surgery are associated with these tumors. But more devastating, the disease once alluded to, von Hippel Lindau syndrome, was strongly associated with multiple hemangioblastomas.
The next few weeks were spent looking at Steven's eyes (thankfully still very nice and neat retinas), submitting blood and urine samples (all within normal range still), scheduling a second opinion with a different neurosurgeon (who reported three hemangioblastomas on the MRI...but now seeing five), trying to make our way into a study at the Institutes of Health in Maryland (success!), and receiving genetic testing (the definitive genetics results were received on May 11, 2005)...
...and in the past 18 months we have been shattered and healed, strengthened and humbled.
Join us for the story of Steven's life with von Hippel Lindau disease.
Steven began complaining of dizziness in December of 2004. I tended to ignore these complaints, assuming he wasn't eating well or sleeping enough. Dale, Steven's dad, decided that more action was needed, and he took Steven to the pediatrician in January, 2005. An EKG and a CT scan were ordered. While both tests indicated abnormalities, the issue with the EKG was quickly resolved with a quick visit to a cardiologist. Steven's heart proved to be as sweet and healthy as ever!
The abnormal CT proved trickier. An MRI was scheduled for the following Monday, and I was directed by the pediatrician to schedule an appointment with a pediatric neurosurgeon ASAP. The CT indicated an abnormal vascular structure in my son's brain.
Our visit at the neurosurgeon's office prompted more questions than answers. The MRI revealed two small and compact lesions, one being in the cerebellum and one in the brainstem. Steven was poked and prodded that first day, and I was questioned about his overall health, his learning abilities, and family history. Neither the MRI results, nor the findings on Steven's exam, nor my answers to the drs questions provided a path for diagnosis or furthers treatment.
After speaking with a radiologist, the neurosugeon decided that we should scan Steven's spine and kidneys. The radiologist was looking for more tumors, indicating a disease called von Hippel Lindau syndrome.
These tests came back negative, except for that pesky little "incidental" cyst on the pancreas. At the follow-up visit the neurosurgeon it was decided that the cerebellum tumor could safely be removed and biopsied, and the surgery was scheduled for February 24th.
After a grueling night in PICU, Steven made a remarkably fast recovery. His only complaint by day two was that he had to stay in the hospital until the cerebral angiogram was performed. This test was done to look at these unusual blood vessels.
Tuesday, March 1, 2005, at noon our questions were answered. The cerebral angiogram was done under anesthesia at Children's Hospital. The radiologist met me in the waiting room with a description of what was seen. The angiogram showed two small "blush stains" in the areas where the tumors were seen on the MRI, indicating hemangioblastomas were growing under those tortuous vessels.
I immediately began researching hemangioblatomas that same evening. The tortuous, serptentine vessels seen during surgery are associated with these tumors. But more devastating, the disease once alluded to, von Hippel Lindau syndrome, was strongly associated with multiple hemangioblastomas.
The next few weeks were spent looking at Steven's eyes (thankfully still very nice and neat retinas), submitting blood and urine samples (all within normal range still), scheduling a second opinion with a different neurosurgeon (who reported three hemangioblastomas on the MRI...but now seeing five), trying to make our way into a study at the Institutes of Health in Maryland (success!), and receiving genetic testing (the definitive genetics results were received on May 11, 2005)...
...and in the past 18 months we have been shattered and healed, strengthened and humbled.
Join us for the story of Steven's life with von Hippel Lindau disease.
1 comment:
i miss london
mary
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