What the doctor said after that, I'll probably never know. I know I spoke, and I know that I asked some questions. That's about it. Funny, I went in to this appointment with the proof already in front of me....bilateral angiomatosis activity on the frontal and pariatal lobes....right there in black and white. It was just one of the results of Ben's MRI. But I also went into this appointment hoping that someone would tell me it was all a mistake...you can go home now. It all came down to one thing......the doctor finally said Sturge Weber.
Every parent or individual dealing with Sturge Weber Syndrome has gone through this exact moment in some way. Some of us had no clue what Sturge Weber Syndrome was when it was first spoken to us. Some of us, like myself, were already familiar with what Sturge Weber Syndrome means. Well, at least I'm able to tell you what the clinical signs of Sturge Weber are. In fact, to this day, I still don't know how it will affect my son. I do know this....when it come to Sturge Weber Syndrome, we are one of the lucky ones. Many parents get their diagnosis after they've brought their infant to the doctor with uncontrollable seizures. Many other parents get their diagnosis when they realize their child is not using one side of their body effectively...or at all. Others get their diagnosis when they find out their child has glaucoma, and may eventually be blind. Some realize their child is developmentally delayed in certain areas. This list could go on. Sturge Weber Syndrome is individualized in each and every person who has it. That's just one of the things that makes it so hard to figure out. Another factor in the care of Sturge Weber patients is that there are less than 1000 babies born with it every year. This makes it hard to find health care professionals with extensive knowledge of the syndrome.
I realize that I've been going on about Sturge Weber Syndrome here, and I haven't described what it means. It's hard to sum it up in a sentence or two, so please check out this page for a definition of Sturge Weber Syndrome. I've taken this definition from the National Institute of Neurological Disorders and Stroke (NINDS). The Sturge Weber Foundation also has a great definition of Sturge Weber Syndrome. This link will take you directly to their definition of Sturge Weber Syndrome.
Sometimes I feel a bit guilty about all of this. I wonder why my son was spared the early onset of Sturge Weber Syndrome complications. I know of people who deal with so much on a daily basis, and I just can't fathom what it's like. My heart goes out to everyone who spends every day on this journey, and I can't express enough the need to help find a cure, or to isolate the exact cause of this syndrome. The Sturge Weber Foundation is doing so much to help with the education, support, and fund raising needed. Although the intentions of this site are not to solicit funds, I will add that the Sturge Weber Foundation does accept tax deductible donat ions for continued research on their web site.
After spending hours studying, reading, and fact finding, I know now that Sturge Weber can be a progressive condition. Ben may not always have such a mild form of this syndrome. We will deal with anything that may happen as it comes. For now, our family will be concentrating on the research and studies that are being done. For us, and for all people who have this condition.
So, as of today, Ben has no developmental delays. He does not have seizures. He does not have glaucoma, nor does he have increased pressure in his eyes. He does not have any weakness or lack of muscle coordination. In fact, he doesn't seem to have anything except a birthmark, and a few abnormal blood vessels in the wrong place. I correct myself.....Ben does have headaches on occasion, and an articulation speech delay that we feel is a structural obstacle. His birthmark involves the inside of his nose and mouth, making his right side thicker than the left. However, just looking at his MRI results causes one to wonder why he does not exhibit more symptoms. Ben's Sturge Weber involvement in his brain is bilateral, meaning that he has the angiomatosis in both hemispheres of the brain. More than one doctor has started the conversation of our appointment with "How are you managing his seizures?" "What seizures?" is our response. He's our miracle!
Ben has other obstacles to get through. In addition to finding the angiomatosis activity (the reason for the SWS diagnosis), the MRI also showed that Ben has an AVF (Arteriovenous Fistula) in the tentorium area of his brain. Is this related to SWS? I'm not sure what the doctor would say, but the SWS, the PWS, and the AVF are all vascular malformations of some sort. So I guess, if we simplify the whole thing, they are related.
Ironically, this scary diagnosis of Sturge Weber Syndrome has already taken a back burner in our life. After consulting with several doctors, we found that Ben's AVF needed to be treated soon. Ben underwent an embolization of his AVF on February 8th, 2005. It was a scary time for our family, but the outcome was successful. Read on for our story of Ben's AVF.
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- Ben's Story Page 1 - The Birthmark
- Ben's Story Page 2 - Finding the right Doctors
- Ben's Story Page 4 - The AVF
- Ben's Story Page 5 - Ben Goes To New York
- Ben's Story Page 6 - Parkes Weber?
- Ben's Birthmark Progression
- Ben's Laser Treatments
- What is Sturge Weber?
- What is a Port Wine Stain?
- What is an AVM?
- What is an AVF?
- What is Parkes Weber?
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- Ben's Story Page 1 - The Birthmark