After my last post, I decided that I needed to finally do something more to take charge of my children’s medical situation. I had been thinking about doing this for a really long time, but just never to around to making the appointment.
I was able to snag an appointment with a geneticist at a big city hospital in NYC. I had such high hopes, although I really wasn’t sure what to expect. I think I was expecting for the geneticist to connect the dots on most, if not all the different diagnoses. I was looking for that AHA! moment; the smoking gun; the secret that would unlock the reasons why my kid’s medical charts at our pediatrician’s office are the size of the unabridged version of War and Peace.
Alas, the answers remain elusive.
After describing my daughter’s condition, the geneticist flat out told me “You know everything that you need to know about your daughter’s condition. There is no test that will tell you more than what you already know.”
In the end, it turned out that what I know about Klippel-Trenaunay Syndrome is more than the geneticist knew. I ended up providing her with more data and current research than she had known about. So I am waiting for her to review the data and get back to me.
Very recently, there was an amazing “accidental” discovery that begs further investigation. In short, mice were injected with the PIK3CA gene. This gene is known to be responsible for causing certain cancers. I am not sure what they were looking to accomplish, but the accidental finding was that the mice began forming venous malformations*. The really special part of this research was that once anti-cancer drugs were administered, the malformations were successfully treated. I am not a doctor, I don’t exactly understand how the malformations were successfully treated, but it sure is an interesting concept.
*Venous malformations are a very large part of what makes up Klippel-Trenaunay Syndrome.
Again, I must put out this disclaimer: I am not a medical professional. I am a very worried mom who has the capacity to learn and retain too much information, more than what is for my own good.
I am worried because, on the flip side of this gene, I am very concerned that a gene that is known to cause cancer can potentially also be responsible for causing venous malformations. This information is a bit unsettling to me. Does this mean that if you have venous malformations, and you test positive for having the PIK3CA gene, should you also be on the lookout for cancer in your future? In my case, should I be more worried about my daughter’s future?
The geneticist could not answer my questions, nor could she allay my fears. She did say that she thought that I didn’t have much to worry about. But I am a mom. I will always worry.
Much later on, the discussion finally shifted to my son and his newly acquired set of diagnoses. Now the geneticist was able to flaunt her stuff. She is very interested in what he has been going through. So we will make a return visit to her for additional testing.
In a generous way, the geneticist wanted to offer me resources for my daughter’s condition. She logged into her secret network of medical websites that are locked away from the general public. She started looking up treatment options for Klippel-Trenaunay Syndrome. Her first search yielded the name of a highly regarded physician who is on the cutting edge of treating KTS. I said “Thank you, I am very familiar with this physician, he is my daughter’s surgeon.” The second search yielded a picture of my daughter’s hematologist.
She sat back in chair, gave a great big sigh and said, “I am sorry, but as I said at the start of our conversation, you know everything you need to know about your daughter’s condition. You are already being treated by a leading expert in this field. I am sorry, but I cannot help you.”
Back to the drawing board!