I decided to join Mary's Summer School once again. I had a lot of fun doing it last year so why not do it again. It is actually perfect posting it today, as I am starting actual summer school today. I'm taking an extra credit in order to lighten my load for next year.
I really want to do the homework where you go to the library and take out a CD for everyday of the week, but my local library will not be open until Tuesday. So I will have to wait until then to get my CDs.
This year in biology we did an entire unit on genetics and it was actually my favourite part of genetics. I loved doing punnet squares and working with pedigrees. It was very interesting to see how genes are passed down through generations. I want to share a genetic disease with you that after researching about and reading the stories of those who are affected by the disease really touched my heart.
SCID is often called Bubble Boy Disease due to David Vetter. He was a boy in the 70s who lived in a plastic bubble because he was affected by this disease. The disease affects the immune system.
What is SCID?
- A primary immunodeficiency (a state in which the immune system’s ability to fight infectious disease is compromised or absent) due to a defect in a gene.
- A severe defect in both the T- & B-lymphocyte (a type of white blood cell) systems.
- Also known as “bubble boy syndrome”.
- SCID can be successfully treated early. Otherwise it can be fatal within the first year of life
- Rare disease
- Most Common SCID is X-SCID
Signs and Symptoms:
- Signs of SCID include an increased susceptibility to infection (more infections than usual). I.e. A baby with SCID may have recurrent bacterial, viral, or fungal infections that are much more serious and less responsive to treatment.
- Numerous, serious, and/or life-threatening infections that are not easily treated and do not respond to medications (as they would in children without SCID), including the following:
o pneumonia - infection of the lungs.
o meningitis - infection of the brain.
o sepsis - infection in the bloodstream.
- other infections, including the following:
o chronic skin infections
o yeast infections in the mouth and diaper area
o infection of the liver, skin, or ear
Reasons For Malfunction
The mutation occurs on the IL2RG gene
The gene codes for a protein essential to the immune system
The protein aids in development of Lymphocytes (an immune system cell)
Lymphocytes protect against invaders, regulate immune system and make antibodies.
If a body is lacking Lymphocytes it makes it impossible to defend it against infections.
Lack of enzyme that removes toxins
Pattern Of inheritance
Sex Linked recessive disease
Affects more males
Females can be carriers of the disease
In order for females to be infected with the disease both X chromosomes must have the defect.
Affects males and females equally
It has an autosomal inheritance pattern
There are a few treatments for SCID. They include bone marrow transplant and an experimental treatment of Gene Therapy.
If you would like more information about SCID check out this website.
If you would like to read about a child who suffers from SCID visit this blog and this one.
Summer School has allowed for many hallway moments! Why is it that the best laughs always happen when your sitting around in the hallway?
I hope you all are having an amazing summer.