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Showing posts with the label mitochondrial disorder

Designing Babies with 3-parent DNA

My son has mitochondrial disease.  Mitochondria is maternally inherited.  My other two children do not have mitochondrial disease which means that my oldest child's mitochondria deficiency/deletion was atypical, sporadic, a random occurrence.  The technology that is being considered by the FDA to prevent mitochondrial diseases in embryos would not apply to our situation, so why am I so worked up by this? Yesterday, the FDA concluded a two-day hearing on the science of 3-parent embryos.  The process would take the DNA from the egg of the mother and that of the father and insert it into the embryo of a donor egg with healthy mitochondria that has had its nuclear DNA removed. In an interview I heard with Dr. David Prentiss, who spoke out against the technique before the FDA  Tuesday, he said that though this has not been attempted in humans, about four years ago, it was accomplished in monkey embryos; thus far, the animals seem to be healthy, though we are unce...

The Hard Days

Funny how yesterday morning everything seemed golden, blessings everywhere I looked.  Then the afternoon. . .nothing especially bad, nothing really good, just the quotidian, the ordinary stuff.  But it was too much.  My eyes glazed over--I lost the ability to see the joys, the God-gifts. All I could see was a house that needed cleaning, clothes that needed washing, food that needed cooking, and children that needed attention.  D was lethargic, rubbing his head like he does when he is in pain.  He didn't eat much after-school snack either.  His balance was off--several times when he did get up he nearly fell down the stairs, or in the garage, or walking in the yard.  He couldn't tell me what was wrong.  I took him to get his haircut (one of his MOST favorite things in the whole world to do) to get ready for inspection Thursday and that cheered him momentarily. After supper, I bathed him because he had had an accident.  I was heading toward...

Back When I Could Walk. . .

Yesterday, a brave man said this to me.  He said it with difficulty-- not at the words, but because speech is hard to produce.  He said that back when he could walk, he rode horses and it helped with his coordination. It made him think of D and wondered if he had ever tried horse therapy. We had just arrived at school after D's visit to his rehab pediatrician.  This man, after retiring from his work at the court house, now in a motorized scooter, works as a security guard to keep an eye on the high school kids.  And he does an excellent job.  Half the time, when no one else knows where D is (he likes to visit other classes), Mr. Brian knows.  And he knows D likes to push the buttons on his electric scooter, so he'll unplug if he sees D heading his way.  I had been having a pity party for me and D on the way home from the doctor.  The doctor was alarmed at the loss of muscle mass in D's hands.  He had not seen him in 9 months and though D'...