Wednesday, March 16, 2011

Staring doesn't make it boil faster

It's been a week since my Donor Day orientation, and I'm doing my best to restrain myself from checking my phone every 5 minutes for missed calls. I'm feeling confident that my MMPI scored fine, because I haven't received a phone call for a disqualification notification. Hopefully I'll hear back with good news with regards to the genetic tests within the next two weeks so I can schedule my appointments with the social worker. This will be the last step I have to take before I officially enter the donor database! The suspense is definitely weighing down on me.

I've been thinking a lot about the genetic tests this past week, so I did a little research about the diseases that Shady Grove tests for. It's amazing to me that ANY baby is born completely healthy with the multitude of genetic diseases that exist. Some of the conditions are pretty debilitation, or even life threatening. I can't imagine having any of these issues myself, or putting a child at risk of being born with one if I happen to be a carrier of the gene. I'll do my best to decipher all of the medical jargon...

1. Beta Thalassemia is a blood disorder that causes the body to make an abnormal form of hemoglobin. Hemoglobin is a protein that gives red blood cells their distinct color, and enables the cells to carry oxygen. Without normal hemoglobin, a person will develop anemia (lowered capacity for RBC's to carry oxygen to tissues/organs) and may experience hemolysis (premature breakdown of RBC's). This disease can be life threatening, but can be treated with blood transfusions and bone marrow transplants.

2. Bloom Syndrome is a disease that commonly affects individuals of Jewish descent. These individuals have "breaks" in their chromosomes, which causes many physical deformities. The most noticeable symptoms include a red facial rash when exposed to sunlight, narrow face, and short stature. They often have a higher risk for leukemia, other types of cancer, and life threatening infections.

3. Canavan Disease is a metabolic disorder in which an individual lacks an enzyme to break down aspartic acid. This can lead to deterioration of white matter in the brain, leading to severe mental retardation. While some individuals are able to live into young adulthood with this disorder, most die within 18 months of age. The MRI pictured shows significant damage within the brain, in comparison to the normal brain.

4. Cystic Fibrosis is a disease that causes a build up of abnormally thick mucus in the lungs and digestive system. People with CF have a persistent cough and abnormal bowel function, as their body is unable to rid itself of the mucus. The symptoms of CF can be alleviated with respiratory therapies, and diet regulation, but most die by the age of 35 from respiratory complications. I had a childhood friend pass away from CF at age 15, and I know how hard it was to see him & his family endure the struggles associated with his disease.

5. Familial Dysautonomia affects the development of nerves, and commonly affects people of Jewish descent. This disease has a variety of symptoms associated with the central nervous system, and only half of sufferers live to the age of 30.

6. Fanconi Anemia Type C causes individuals to have a lower levels of white blood cells, red blood cells, and platelets (clotting agents). People with this condition have a higher risk of developing leukemia, but are typically able to live normal lives with blood transfusions/bone marrow transplants.

7. Gaucher Disease is yet another metabolic disease that typically affects people of Jewish descent. Individuals lack an enzyme, which causes a toxic build up of substances in the liver, spleen, and bone marrow, thus preventing them from functioning normally. Enzyme replacement therapy has extended the lives of those affected by this disease, but they may also need bone marrow transplants at some point in their lives.

8. Tay Sachs is a disease of the nervous system that is particularly devastating. 1 in 27 people of Jewish descent carries the gene, and those affected typically die by age 5. Tay Sachs causes deafness, blindness, decreased muscle tone, dementia, seizures, and even paralysis. Currently there is no treatment.

9. Mucilipidosis is a genetic disorder that causes mental retardation and progressive loss of vision. People with this disease are unable to break down carbohydrates and lipids normally, which causes a build-up of intermediate substances. Accumulation of the substances can cause organ damage, corneal clouding, and cognitive delays.

10. Niemann-Pick Disease causes lipids (fats) to accumulate in the liver, spleen, and brain. This progressively causes motor skills to decrease, seizures, tremors, intellectual decline, and other neurological issues. Severe cases typically cause death by age 3, but those with mild cases may survive to the age of 20.

11. Sickle Cell Anemia causes red blood cells to form an abnormal crescent shape due to an abnormal form of hemoglobin. The fragile RBC's can't deliver adequate amounts of oxygen to tissues of the body, and can easily clot in small blood vessels. Sickle cell can be treated with dialysis and blood transfusions, but may still be life threatening.

12. Spinal Muscular Atrophy causes muscle degeneration which leads to poor muscle tone, breathing/feeding issues, and progressive muscle weakness. Most individuals only live to 2-3 years of age because of the lack of treatment for this fast acting disease.

13. Fragile X is caused by a defective gene located on the X chromosome, and can affect both men and women. Some with this disease often suffer mental retardation, or experience symptoms similar to those with autism. They often very tall, have long faces, and low muscle tone. Men with Fragile X are typically more drastically affected in comparison to women with the disease because they have only one X chromosome. You can see the "fragile site" located at the bottom of the chromosome, which appears to have broken off.

If I was a carrier for any of these genes, I would definitely want to know. However, awareness of that fact could bring a new set of challenges down the road when I choose to start my own family. It was emotionally painful just to get through this post after seeing photos of people affected with these diseases, and I know I would never want to put a child through that struggle. For now, I'm hoping on good genes!


  1. that picture with the child's eyes blacked out is giving me the creeps.

  2. I chose not to upload more pictures of babies/children with the disorders because they are so devastating to see. There were a lot of tears during this post, and it makes me so thankful to be as healthy as I am today.