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Jeff's Illness

Jeffrey Hayek was a seemingly healthy 10-year-old boy when he went to bed on the evening of June 19, 2007. Fourth grade had just been completed, his spring baseball season had concluded the Saturday before, and Jeff was looking forward to a long summer.

On the morning of June 20, Jeff became nauseous and complained of headaches.

On the precautionary advice of our pediatrician, Robin took Jeff to the emergency room at Frederick Memorial where he was treated for dehydration. Also as a precautionary measure, Robin requested a CT scan of Jeff’s head. To our horror, the CT scan revealed what they believed to be a bleed. Jeff was flown by helicopter to Children’s National Medical Center. A revised diagnosis was better news–it was a clot that they believed could be treated through drug therapies. Still, despite efforts by a skilled team of doctors, specialists, surgeons, and nurses, his condition deteriorated and on June 26, Jeff passed away at approximately 11 p.m.

Jeffrey died of a “Central Venous Sinus Thrombosis.” In English, that means Jeff had a blood clot deep in the lower left side of his brain which caused increased swelling inside his head.

Because the brain is contained in a very closed space (the skull), it will tolerate very little swelling before damage and in Jeff’s case, death.

Update 10/2007: Why was there clotting in Jeff’s head?
We knew Jeff died of complications from blood clotting in his head, but what we didn’t know was why the clotting ever took place at all. For this reason, we authorized an autopsy to investigate why this clotting existed and why it moved so aggressively. Here is what the autopsy revealed:

Jeff carried with him an unfortunate disposition for blood clots. He had several blood abnormalities that are not individually rare or serious, but when more than one exist, they increase the risk of clotting exponentially. When Jeff’s blood abnormalities combined with external conditions, in this case an ear infection and possible dehydration, a perfect storm resulted and the clotting began to cascade out of control. The clots quickly blocked blood flow from Jeff’s brain, which built up pressure in his head. This altered his behavior, his ability to understand, and ultimately took his life despite the best efforts of the Children’s Medical Center Pediatric Intensive Care team. Jeff was in the hospital just six days, with his parents by his side virtually every minute of that time.

Because several of Jeff’s blood abnormalities were genetic, we quickly moved to have a family blood test to ascertain which of Jeff’s abnormalities, if any, were being carried by Robin and me, and Bailey and Evan. These are not your run of the mill lipid tests – they’re very specific for the types of abnormalities Jeff had. Afterwards, we consulted with Dr. Yoram Unguru and Dr. Mike Guererra at Children’s National Medical Center. These are both pediatric hematologists, and Dr. Guererra specializes in clotting disorders.

While all of our family members carry some of the abnormalities that Jeff had, and we are all at a higher risk for clots, the blood test results do not call for any long term blood thinning therapies. In fact, no medications are needed at all for the kids, according to the doctors. Hydration, folic acid supplements, and some common clotting prevention measures were all that were advised, and no future visits to the hematologists are planned. In short, Bailey and Evan should be fine. Robin and I have an appointment with adult hematologists at Hopkins in a few months.

As for the abnormalities themselves, the most common condition Jeff had was something called Factor Five Leiden. It all has to do with proteins and the body’s ability to start and stop the clotting process. One in every 20 people have some type of Factor Five Leiden abnormality. Most go through life never knowing they have it. And there’s no reason to test for it unless there’s a history of family clotting or a clotting event takes place.

Jeff also had two mutated genes for something called MTHFR A1298C. Believe it or not, you can google that and find a wealth of information on that as well. You can also look up antithrombin and Factor Eight, two other abnormalities that worked against Jeff.

Given Jeff’s blood condition, ICU doctors and specialists are still surprised at the speed in which Jeff’s condition deteriorated. Jeff’s case has already prompted a hospital-wide conference to develop protocols for patients presenting with symptoms similar to Jeff’s. Dr. Jennifer Scheutte, the head ICU physician, spoke at the National Institutes of Health with Jeff’s case as the focus.

Of course the clinical side of Jeff’s passing, while important for our family’s future, seems so futile in every other way. Finding a cause, or even a hypothesis for a cause, does not change the result. We still find it difficult to start each day

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without Jeff. We do miss him so.