Turns out it makes a big difference ...

The last time I received a call from the Genetics department at the Children's Hospital was when I was 21. They scheduled a time for me to come and meet with them about some developments in the field and to look at my genetic profile as I entered adulthood. I remember now how odd it was to be back in that hospital (the old one now I guess), and how surprised I was at the memories that flooded back to me. The hours in the wee of the night spent in emergency because my parents did not know what else to do with a six year old screaming in pain. The hours spent in waiting rooms for tests and to see this specialist and that specialist ... watching the fish, playing, or sleeping. The hours spent roaming the halls in a wheelchair being pushed by whoever was with me ... the dread of my name being called to return to my cluster. The hours of painful physio and brace fittings. The minutes to me, and hours to my mom, spent in the gift store, picking out little trinkets to bring back to my friends. The hours spent stuck in hospital beds, desperately bored. The hour I woke up and could not bring my chin to my chest and was rushed to ICU with spinal meningitis. The hour, crying on the bathroom floor (maybe that is where my affinity for bathroom floors evolved from), my mom told me that I could not return to my friends as I had been promised but would have to undergo another surgery to get some of the tumor that had snuk into my belly. And as always when a flood gate is opened, many more memories ... good and bad. But oh so important, squeaker my blue squeaky elephant, and hospital bear.
Today I received another call from the department. Apparently they have found the gene for mulitpleschwanomatosis (hehehe spell check says NO SUGGESTIONS!). In all honesty it is not something that I have followed closely or have thought of often. And my heart did not release a sigh of relief upon hearing this news ... in fact I was more concerned about how much poking and prodding would be required of my little body to now officially confirm my diagnosis. And, a twang of fear that I would return to be being a medical mystery without any diagnosis.
I understand and have researched the implications associated with neurofibromatosis, a disease that had to first be ruled out before I could be diagnosed, and a disease grouped with and researched in connection with my disease. A disease they identified the gene for many years ago. But it did not sink in right away that those implications now implicated me.
And they are not small. I can now know for sure that I do have multipleschwanomatosis. I can now know the exact risk of passing my disease on to my children. From what I understand my family can now be tested to see if they are carriers and what risk their children will run of inheriting the disease. The future father of my children can be tested to see if he is a carrier. My choices as far as having children have completely changed because of some brilliant research funded in Switzerland I think (I vaguely remember being asked for permission to send my records).
And on the gross side. It will now be possible for my Mom or Dad to know exactly what part they unknowingly played. It is not something I ever think about. But knowing about the thoughts that have gone through my mind while debating if I should risk having kids ... I am sure that it is something that they have carried. In a way I don't want them to know. I am equal parts of both of them, all of me, ALL of me ... regardless of what any test says.
Should be an interesting road to journey down. I meet with the geneticist that has followed me since I was 6 in the next couple of months. I will keep you posted.