Genetics Appointment

Today we had our appointment with genetics. We talked mostly with the genetics counselor. Let me just say, it was a nice meeting, even if the information we received was a little hard to take in. The genetics counselor validated our feelings. She said it's a diagnosis most people don't understand or know about. It is a long explanation for others to understand. There is an initial reaction to not understand where we are coming from with our fears and thoughts because she is healthy right now. It is not like other diagnosis that others understand. If we had the diagnosis of Down Syndrome, people would know what that means. I cried, she teared up, I stopped crying, I teared up again. You know, normal reaction for me. She really didn't tell us anything different than what we knew from the research. They have seen others with this PTEN gene mutation. They gave us an official diagnosis - PTEN Hamartoma Tumor Syndrome, or we can just say PTEN related disorder. (the second sounds a little less scary). She stated that there is definitely an overlap between BRRS and Cowden Syndrome now, so the symptoms that go with each of these can both be seen with Brooklynn. Cancer is our biggest long term risk. The numbers are always changing, so she stated to not trust the percentages. They can go from 25% to 80% for chance of getting breast cancer depending on the research article. They are still learning about this gene mutation. We have to monitor her thyroid every year. We have our first thyroid ultrasound on Monday. We will have to monitor for GI polyp symptoms. We will have to go yearly to the dermatologist. There are many types of growths, tumors, and malignant cancers that can be seen in this syndrome. Brooklynn could have many symptoms, she could have no symptoms, there is no predicting the severity. There is a clinic in Cleveland that deals with PTEN related disorders. They have a Dr. who goes there that is highly recognized for her work in PTEN related disorders. The genetics counselor will contact that clinic and see if it will benefit us to get in touch with them. She stated she would put us in touch with other families that are dealing with the same thing. There is also a doctor at KU who does a lot of research for adults with PTEN and cancer. We might be able to speak with her at some point. Sam had his labs drawn today - it may take any where from 2 weeks to 6 weeks. Those results will reflect the next step. If it is positive, he will have to have his thyroid checked. At 35 he will have to start some other screenings. If his is negative, I will have to have my labs drawn. If mine is positive, I will have to do thyroid, breast, and endometrial cancer screenings by the time I am 30. If either of us is positive, we have to decide if we want to test Izzy (she has no symptoms at this point, so we feel that right now our decision is no - but if she develops any symptoms we would test her - we feel like she should be able to chose for herself if she wants to know as she gets older since she has no symptoms of anything being wrong). Brooklynn will have to be told at some point in her life about this. The counselor talked about how some people deal with this. She said some people tell them little by little, some tell them all at once. Some kids want to speak with a medical professional, some just want to talk to their parents. We need to tell her prior to her being child bearing age. She has a 50% chance her kids will get the mutation. They could either have mild symptoms, or much more severe. She will have to talk to her significant other that she is at increased risk for cancer. That she might have to have her breasts removed at a young age. She might get breast, skin, endometrial, brain, renal, or GI cancer. And at any age it can show up. This will possibly hinder her ability to get life insurance at a decent premium. This diagnosis will effect her whole life, and even before she knows it. Right now, our biggest concerns to pay attention to are her development. Foster her learning and development as much as possible. The positive is now we should get services we need easier. We will be vigilant about screenings. She will possibly get a developmental screen done to see if there are concerns. This goes along with learning disabilities and developmental delays. Sam was my rock. He was so strong through all this. He took it wonderfully. He supported me in all my million questions. He pretty much summed it up "We can't change this. It is what it is." I still feel like I am in a fog. I don't know necessarily how to handle this. I don't know how to process this, but I am working on that.