Husband's last camping trip

Husband's last camping trip

Saturday, March 24, 2012

Happy birthday??

Dr A called me yesterday afternoon. The news is not good as expected. Husband has in fact inherited what his mother had. Of course, we knew, but, to have it confirmed by Genetics Testing, was, well, sad.

Dr A explained how they can tell, these experts. It's really rather interesting how they go about it. Test results show the defective gene is present at conception. What makes his type of disease so interesting is, this defective gene lies dormant for about 35 years. And like an alarm, at or around age 35, this gene, or dominant chromosome, will start to mutate, causing a deadly consequence. It also showed that husband received this defective gene from the female contributor.

He also explained that what husband has is so rare, not much has been done in studies. I swallowed hard and asked, how long? He hesitated, then said, "With what we know, and how he is now, I'd say 1 more year, tops."

We talked for a good 30 minutes, he told me it was time to put him in a wheelchair, the evidence of falling is too great at this stage. He was pleased that he is using the shower seat. He also explained that I will have to look into getting him into a hospital bed.

Being concerned about all the seizure activity, he has requested an EEG, in May.

I then had to call Father in law. I felt so bad for him. He cried, I cried. He was in denial for so long, it was so hard on him. I really felt bad for him. He thanked me for taking such good care of husband, his son, his little boy. I can imagine how he has felt, yet at times, would make me so crazy by his denial, yet, here I was, telling him his only child will in fact, die, soon.

Dr A is sending me the results, I told father in law that I need to see the family, giving them copies of the test results. They all have a right to know what can happen to them, or their children. He agreed.

Husband will be 47 in May. Family members afflicted with this disease did not live to see their 48th birthday. We are now upon the dreaded 47th year. This birthday will be bittersweet. And, his last.


  1. So sorry that what you feared has come true. I don't know how they can predict it so much.....I guess from experiences. I am sorry. I am sure this worries you about your children.

  2. I cry for you, today especially. I'm so sorry. May you feel the presence of God during this journey. Praying.