While at a checkup with the Allergist today, I received a phone call from the genetics counselor assigned to me. She had received the results of my genetics test. I apparently do have the rare genetic disorder all the doctors have been avoiding discussing with me. So I am one in 250,000 people in the United States blessed with this genetic nightmare.
Even though one sweet doctor had taken it upon himself to tell me that I could be considered diagnosed with the disease because of my medical history; I felt like a rock had been dropped in my lap. Reality smacked me in the face and now I had to discuss this with my family and get them to be tested. I hate being like this.
I would never wish this on my worst enemy, I certainly do not need to worry about my sisters, nieces and nephews having to deal with this. What about their children? This is just so much to deal with. I was coping fine, until I knew for sure. Now…I need to pray on this…
Related articles
- Do You Know Your Family Health History? (everydayhealth.com)
- Genes Give You Mom’s Eyes and Dad’s Heart Problems (liheart.org)
- Mitochondrial mutations: When the cell’s 2 genomes collide (esciencenews.com)
Two Rights Attempting To Make A Left! 
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The idea is phenomenal. I’m currently living a genetic nightmare. I’ve changed my diet and exercise 5 days a week for an hour. I still hurt everyday and have not lost an ounce of weight. I’m still in my nightmare. My mom, dad and grandparents were all extremely healthy. Not always behavior modification that will work. Sometimes it comes from way down the line and you can be the first one in your family to develop something.
Hi Jill,
Sorry I saw this post late. When I got my genetic testing results, I sent my mom and sister information and the suggestion that they be tested. My mom is the ‘voice of reason’ for my two brothers. Mom said it’s not from her side of the family (no proof there, just her proclamation). She didn’t even bother to tell my brothers — I had to — because she knew they would never be tested. My sister didn’t think she or her 2 daughters needed testing. Fortunately, that’s the end of the gene line, for now. I was a bit amazed at the lax attitude of my family, especially for the sake of my 20 & 22 yr old nieces sake. I didn’t have any signs until my mid-30’s and then it took me about 12 years to get it all figured out. I have to look at the idea that I told them & they are aware. I have to let it go — if they won’t worry about themselves, I will not. But I do post things to my Facebook & they all see it so I am keeping them aware. Hopefully when and if symptoms start to occur, they’ll remember what might be genetically hiding within themselves.
Bottom line, you have enough on your plate to have to worry about what-ifs in other people. Be there, but let them have the bulk of their own worry. Peace.
Debbie,
You have no idea how bad I needed to hear this. After I called to talk to all of them, I just wanted to cry. I’m more worried about their kids than them. We are close in age and I am in the middle. My parents are actually willing, my sisters are willing to speak to the counselor, but they are worried about losing their insurance.
My oldest sisters husband had a meningioma in his spine, she has three kids just turning 30. I now have a great nice and nephew also. I can’t worry myself to death. I have enough going on around here.
Thank you! Truly! Thank you!
I needed this……Jill
Jill, my thoughts and prayers are with you and your family. I’m so sorry that this burden has been put on you.
My son has a rare genetic disorder (3 in a million) and he’s adopted and doesn’t know his genetic history. His diagnosis was about 10 years later than it should have been because of not having the knowledge. I’m sure this isn’t much comfort right now, but maybe if anyone else has the gene it will turn out to be an opportunity which could end up helping a niece or nephew someday.
Again, I’m sorry it’s been one thing after another for you.
xo
Luanne
Luanne,
You are so sweet! Thanks for being so supportive. My sisters are concerned about what it could do to the kids future insurance coverage chances. But I know how it feels to deal with this and the thought of anyone else having this scares me. They have agreed to at least talk to the counselor about the possibilities. You are the best, thanks for listening……….Jillxxoo
I’m sure all will turn out ok. Big hugs xxx
Thanks for the encouragement!:-) Jill
Having Cowden’s Syndrome I understand. It does help me to know that all my health issues fit together. For a long time I didn’t know anyone else with Cowden’s. So I hope it helps you to know you are not alone. Have a good night and sleep well. Tami
Thanks, Tami!