Coping with a Rare Disease and What It Can Do to Those You Love

If you have followed my blog at all, you are aware that my family and I have been through the wringer over the past several years.

Barry‘s stroke was a huge surprise. He is alive and kicking today, thanks to modern medicine and the quick responses of the local EMS, emergency room and Emory University Hospital in Atlanta, Ga.

Our journey started over four years ago when I was found to have a brain tumor pressing into my mid-brain that needed removing  quickly. If you don’t know much about the brain, your vital function are regulated in the mid-brain.

Long story short, the brain tumor was just a symptom of a genetic disorder called Cowden Syndrome. It truly isn’t a big deal to check. The trick is to stay vigilant and organized with check-ups and diagnostic testing. If you don’t something can sneak up on you and bite you in the honey.

Cowden Syndrome is a mutation of the PTEN gene. It makes you body unable to stop formation of certain types of tumors. The tumors that develop are  benign or cancerous. They can also appear quickly.

I have already been through three episodes of issues from Cowden Syndrome and survived each without major issue. I am about to tackle the fourth. We were lucky to catch this one early, like one other. Hopefully this will be a breeze like a few others.

I can now state that I am not only a Thyroid Cancer Survivor, I will soon be able ta add breast cancer Survivor to that list. I am not sure I like making a list of the cancers I have survived, but I’m glad I’m still here.

As long as I follow-up with my list of 20+ doctors monthly as they ask, I can keep these issues under control without adding another cancer to the list.

Since my condition is rare, I have joined a research study on Cowden out of the Cleveland Clinic in Ohio. Hopefully this research can help someone else breeze through this mess of a disease. Currently, 1 in 200,000 thousand people diagnosed yearly.

Barry has been my rock. Even after the stroke. He’s hanging in with me. We take care of each other. My mother has been with us almost a year. Her health is declining a bit. Barry and I take care of her issues, as they come up. Mom is having trouble dealing with giving up her independence and she isn’t taking it very well.

Our local friends called and came around for a while, but have slowly disappeared from the picture. It really hurt Barry’s feelings to start with, but he has since realized that people have trouble dealing with change and they don’t know how to handle our illnesses.

What has hurt the most for me, is the change in my older sister’s attitude toward me. I called to tell her I have breast cancer, she stated she was speechless and I have not heard a word from her since.

After I had brain surgery, her attitude changed because of my communication problems. We used to talk at least once a week. Now that I am healthier, her attitude has not changed. I love her dearly and will do anything in the world for her. She is my sister, that will never change.

When I attempt to discuss it with her, she denies everything. I miss what we had. Barry thinks her attitude change is because of him, I tell him continuously that Sandy isn’t like that. My younger sister and I are closer than ever.

My mom does her best to deal with my illness. She starts to cry every time she is around me and looks at me as if it is the last time she will ever see me. I talk with her and ask her to help me get through life. I told her I need her strength, not her tears. She’s getting better. My nieces and nephews all treat me the same.

Barry and I have found a church home. Mom goes with us. The church has welcomed us as if we had gone there for years. They offer many areas of ministry that gives us many choices to volunteer and get involved. We all enjoy Victory Baptist Church in Loganville, Ga.

At GMC

At GMC

Cowden Syndrome rearing it’s ugly head

Barry is the most patient human being on earth. Either, God is giving him strength or he is hiding his fear really well. We are currently waiting to see a doctor for results of an abdominal/pelvic MRI.

During my renal ultrasound, they discovered something on my liver. The doctor’s answer was it is just an incidental finding, we’ll get an MRI to check it out. He thought he was easing my anxiety.Nope….just made it worse….why don’t they get that?

If they were honest enough to just say it could be this or this…..why not do more test to rule it out…..would have made me feel better……but since when is the patient supposed to feel good after seeing a doctor?

Other than that, even though the breast biopsy was negative. They are still investigating the cause of the problem. Another MRI this weekend and appointments all next week to get results and such.

My body is acting crazy and I can’t get a return call from a doctor to save my life. I am also experiencing a new symptom of cowden syndrome, that no one wants to help me with. These doctors wonder why people get depressed. I have a rare genetic disorder that actually scares the doctors treating me.

Barry is being a supportive dream. I am a fussy mess, he just tells me to relax and go sit down. I love that man.

I’m doing the paperwork to join the study at the Cleveland Clinic. Not sure it will do me a bit of good, but maybe it will help someone else dealing with this mess.

I need to go for now, have a few contacts to make. I think I have diverticulitis again. I have to call my doctor. I need to do paperwork for myself and mom. Have a great day everyone.

Barry and I didn’t know how to act yesterday. We saw a movie and had lunch out without dealing with a doctor’s office.