Uncommon condition has many causes

DEAR DR. GOTT: My 26-year-old son has been diagnosed with homocysteinemia. It seems that physicians don’t know a great deal about this. I know it is a genetic disease that has something to do with amino acids in his blood. The neurologist who confirmed the disease has told us that he has Marfan-like features (my son is 6 feet 7 inches, 160 pounds and has long limbs). He has had an irregular heart rate for many years that fluctuates from 40 into the hundreds. (His cardiologist said a lot of people have this.) His level was 16 at his last blood test. My research states that a normal level is between 3 and 7, but his family doctor (who admits not knowing much about the disease) said 12 could be normal. The neurologist said his count was high.

What is this disease and what complications can it cause? [Read more...]

Information on sickle-cell anemia

DEAR DR. GOTT: I would like to express my opinion about your recent article on growing pains. The lady stated that her grandson would awaken crying with severe pain in his wrists, ankles, knees and hands. These could be the result of growing pains or of sickle-cell disease. I was the mother of a child with sickle cell for 30 years. I remember, as a 24-year-old parent, my 6-month-old baby waking up crying in pain. The doctors could not find anything wrong until I asked them to test him for sickle cell. They found that he was in a sickle-cell crisis. Since this is a hereditary disease found mostly in African-Americans and some Latinos, you should have asked the grandmother about her nationality. I lost my child at the age of 30. I hope this can help save the lives of children who may be affected.

DEAR READER: Sickle-cell anemia is an inherited condition that causes abnormal red blood cells (RBCs). [Read more...]