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Sam was three months old when his brother, Jake, was diagnosed with Cerebral Cavernous Malformations. In early 2000 most physicians didn’t realize how many cases of CCM are genetic; we were advised that there was very little chance that Sam could have this disorder.
However, Sam was born with a vascular birthmark on the top of his right foot, which was diagnosed as a hemangioma. We were told that it would shrink and go away by the age of five. But, instead, it kept growing larger, and when Sam was learning to walk, the large lump prevented him from properly bending his foot. We sought treatment for the problem and Sam was prescribed a steroid that the doctors said would cause the hemangioma to decrease in size.
We gave Sam the medicine, and while nothing happened to the lump, Sam started to cry all of the time and his face began to swell. The medication had caused a serious case of glaucoma, which threatened his vision. It took many months of treatment to get Sam’s eye pressure back to normal – and still no one knew for sure why the hemangioma had not responded to treatment.
Then I began talking to a surgical researcher at Harvard regarding alternative therapies for Jake. I mentioned the situation with Sam and he said he doubted that Sam’s lump was a hemangioma. He recommended that I get an MRI and send it to him. When Sam’s doctor ordered the MRI, I asked him to get one of the brain as well – just to be sure.
When the results came back, we were shocked. The lump in Sam’s foot was really a cavernous malformation. He also had one in each leg and four CCMs in his brain. Seven in all.
We were dumbfounded when we realized how many doctors had misdiagnosed Sam – even though he had a positive family history for CCM. Yet, Sam is doing very well; he has had no major bleeds. But we are all too aware that any day one of the four lesions could hemorrhage.
That is precisely why THE BRAINPOWER PROJECT is so important. Research in this area is exploding and a cure is entirely possible. Won’t you please help us provide researchers with the power to cure Cerebral Cavernous Malformations before Sam and others like him must know the agony of brain surgery?
UPDATE: During a routine MRI, it was discovered that one of the lesions in Sam’s brain had bled enough to require medical attention. On October 29, 2002, he underwent his first brain surgery. Now both of Elizabeth’s children have had to undergo this devastating surgery.
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