- Part 6 - What Exactly Does Ben Have?
- Updated April 15, 2006
After Ben's initial visit with the Geneticist in April of 2005, we were able to detail much of Ben's vascular anomalies. The Geneticist has been a fantastic advocate for Benjamin!! Without her help, we may never have gotten the chance to secure insurance coverage for the doctors that have become vital to Ben's ongoing care.
During the course of his appointments, we found several vascular "birthmarks" on Ben's limbs leading the geneticist to believe that Ben has some form of a multiple AVM syndrome. The one that has been most prominently mentioned is Parkes Weber Syndrome. Ben had an EKG/ECHO and a renal ultrasound as a result of the geneticists findings. Everything was normal, and there was no sign of internal AVM's in this area. His heart has not been affected by the AFV in his brain. The only thing that was found was a heart murmur, and for that we are grateful.
The Geneticist has given a diagnosis of Sturge Weber Syndrome (which we knew), and Parkes Weber Syndrome. I've spent much time here speaking of Sturge Weber. Parkes Weber is a condition in which there are vascular "port wine" birthmarks with underlying AVM's. It's been extremely hard to find information about this syndrome, and embarking on a fact finding mission
After a mulitple visits with the Genetics clinic....including one very thorough, yet funny, examination of Daddy by three women. We are embarking on yet a new adventure. With the diagnosis of Sturge Weber, Parkes Weber, and the AVF, along with the multiple smaller birthmarks, Ben is a strong candidate for participation in a study of a newly named vascular condition. This condition is called CM-AVM (capillary malformation-arteriovenous malformation). CM-AVM is a genetic/hereditary condition. Ben's paternal family has shown three solid generations of vascular birthmark involvement of some sort. As a result of these medical findings, Daddy has also undergone an MRI to rule out any AVM's in the brain. Thankfully, his MRI was normal.
It is standard knowledge that the vascular syndromes that Ben has are congenital and not hereditary. This study is proving that wrong in a very small number of families. Individuals diagnosed with CM-AVM have a gene mutation in common. Thus, some of these vascular related conditions are considered genetic for this small number of individuals. This study has initiated in Belgium with Dr. Miikka Vikkula at the Laboratory of Human Molecular Genetics. They are working in close collaboration with Dr. Mulliken at Boston Children's Hospital. Ben's information has been sent to Boston Children's hospital by the local genetics clinic here in Minnesota. We are waiting to hear back from them, and hope to find out if in fact Ben does have this condition.
In the families that have been diagnosed with this gene mutation, there has been at least one incident of a couple of conditions. Sturge Weber, Parkes Weber, and AVM's. I haven't found any reference yet that shows that one person alone has managed to suffer all three of these conditions at once. Ben seems to have won the lottery in this case.
Thanks for taking the time to meet Ben!
- We'll be updating Ben's site, so check back
- for updates on Ben's continuing journey!
And watch him while he plays
He has no fears and no concerns
It's just another day
As I watch him race his cars around
A tear falls from my eye
Because I know I cannot stop
Life's fear from sneaking inside
Some will think him different
And they won't try to understand
That this boy, this amazing gift from God
Is a beautiful little man
It is my largest wish to protect him
From the life that is lurking outside
Waiting for that one small chance
When I am not by his side
It will happen soon enough
And I will work hard on my part
That he would always feel this way
No fear within his heart
Now a smile crosses my face
His sweet little face looks up at me
As he says, "Mommy, I love you"
I force my tears to leave
I will protect him as long as I can
And I will be here for his tears
But right now I laugh and join in his game
He is Batman! And today there is no fear!
- Home
- Ben's Story Page 1 - The Birthmark
- Ben's Story Page 2 - Finding the right Doctors
- Ben's Story Page 3 - Sturge Weber Syndrome
- Ben's Story Page 4 - The AVF
- Ben's Story Page 5 - Ben Goes To New York
- 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?
- Links
- Email us
- Our Family Blog
- Ben's Story Page 1 - The Birthmark