My experience with PKD (Polycystic Kidney Disorder) by Alexandra
Prologue:
3 years ago my mother met the love of her life, but he was not entirely the perfect mate. His name was "Mike". Mike seemed like the perfect guy for my mom. He worked out, he ate fairly healthy, he had a great job, he had his own house, and he was attractive and 6 ft 4in tall. They were happy and everything seemed to work out.
He Had to Tell Her:
As the months went on, Mike stopped going to the gym, and it looked as though he was pregnant. His stomach seemed as thought it kept getting bigger and bigger and he seemed hunched and a shadow of his former self. He wouldn't drink his favorite beers anymore or eat his favorite foods. Finally, he told my mom he had a disease called PKD. She had never heard of it, and I had only seen the PKD kidney at the BODIES exhibit once before and I didn't know what it was.
3 years ago my mother met the love of her life, but he was not entirely the perfect mate. His name was "Mike". Mike seemed like the perfect guy for my mom. He worked out, he ate fairly healthy, he had a great job, he had his own house, and he was attractive and 6 ft 4in tall. They were happy and everything seemed to work out.
He Had to Tell Her:
As the months went on, Mike stopped going to the gym, and it looked as though he was pregnant. His stomach seemed as thought it kept getting bigger and bigger and he seemed hunched and a shadow of his former self. He wouldn't drink his favorite beers anymore or eat his favorite foods. Finally, he told my mom he had a disease called PKD. She had never heard of it, and I had only seen the PKD kidney at the BODIES exhibit once before and I didn't know what it was.
What is PKD?
Polycystic Kidney Disorder is a cystic kidney disorder divided into two types, autosomal dominant (ADPKD) and autosomal recessive (ARPKD). An individual with PKD develops clusters of cysts in their kidneys that is very painful (as I saw Mike go through it). Although it affects the kidneys mainly, cysts can grow on the liver as well as other organs.
Mike had autosomal dominant PKD. He inherited the disease from his father, who also has ADPKD and is on his 2nd kidney transplant currently. Most of his family members have the disease. His father, 2 uncles, 1 aunt, and 5 cousins have the disease. Each child born to at least one parent that has PKD has a 50% chance of having the disease. ADPKD results from a spontaneous gene mutation causing the disease Mike has.
In this disease the signs and symptoms of the disease do not appear until an individuals 30s and 40s. Recent developments show that although the signs show in later adulthood, children are now showing signs of the disease showing it is not limited to adults.
PKD is caused through mutations in the PKD1, PKD2, and PKHD1 genes. Mutations in the PKD1 and PKD2 mainly cause autosomal dominant PKD. Researchers think that they're are involved in transmitting signals from outside the cell to the cell's nucleus. The two proteins work together to promote normal kidney function, organization, and development.
Mutations in the PKD1 and/or PKD2 gene lead to the formation of thousands of cysts causing PKD, which disrupt the normal functions of the kidneys and other organs surrounding them, like the liver.
A Tragic Loss:
A year before his surgery, my mother and Mike were going to have a baby. With her previous pregnancies had two healthy children, me and my brother. Through the first couple weeks everything was going perfectly, the fetus had a strong heartbeat and growing strong. Around 6 weeks my mom grew worried, for she read in a baby book that around 6-8 weeks, the kidneys develop in a fetus. Because of Mike's condition, she was very concerned and was eventually going to do genetic testing. Sadly, she lost the baby at the 6 week mark when the kidneys were developing. The doctor told her that because of his PKD, the fetus might not have been strong enough because of the gene mutations.
Works Cited:http://ghr.nlm.nih.gov/condition/polycystic-kidney-disease
http://www.mayoclinic.com/health/polycystic-kidney-disease/DS00245
Mike had autosomal dominant PKD. He inherited the disease from his father, who also has ADPKD and is on his 2nd kidney transplant currently. Most of his family members have the disease. His father, 2 uncles, 1 aunt, and 5 cousins have the disease. Each child born to at least one parent that has PKD has a 50% chance of having the disease. ADPKD results from a spontaneous gene mutation causing the disease Mike has.
In this disease the signs and symptoms of the disease do not appear until an individuals 30s and 40s. Recent developments show that although the signs show in later adulthood, children are now showing signs of the disease showing it is not limited to adults.
PKD is caused through mutations in the PKD1, PKD2, and PKHD1 genes. Mutations in the PKD1 and PKD2 mainly cause autosomal dominant PKD. Researchers think that they're are involved in transmitting signals from outside the cell to the cell's nucleus. The two proteins work together to promote normal kidney function, organization, and development.
Mutations in the PKD1 and/or PKD2 gene lead to the formation of thousands of cysts causing PKD, which disrupt the normal functions of the kidneys and other organs surrounding them, like the liver.
A Tragic Loss:
A year before his surgery, my mother and Mike were going to have a baby. With her previous pregnancies had two healthy children, me and my brother. Through the first couple weeks everything was going perfectly, the fetus had a strong heartbeat and growing strong. Around 6 weeks my mom grew worried, for she read in a baby book that around 6-8 weeks, the kidneys develop in a fetus. Because of Mike's condition, she was very concerned and was eventually going to do genetic testing. Sadly, she lost the baby at the 6 week mark when the kidneys were developing. The doctor told her that because of his PKD, the fetus might not have been strong enough because of the gene mutations.
Works Cited:http://ghr.nlm.nih.gov/condition/polycystic-kidney-disease
http://www.mayoclinic.com/health/polycystic-kidney-disease/DS00245
Off to the Mayo to Get a Healthy Kidney:
Mike's kidneys were developing more and more cysts as time went on. Finally his nephrologist (a doctor that specializes in Kidney function and disorders), told him he needs to be put on the transplant list right away. His recommendation was to have the surgery at UMC here in Tucson. Mike looked into it and the doctor was planning on slicing him from his collar bone to his hip bones also, being a training hospital, students would be present and might help in the procedure. His ultimate choice was the Mayo Clinic in Phoenix, a recommendation from the PKD foundation. His doctor that would be in charge of surgery up at the Mayo was an expert specializing in PKD and kidney related disorder surgeries.
Luckily 3 months later Mike's friend "Tim" volunteered his healthy kidney. The surgery took place and the surgeon did not slice Mike and Time to pieces. When the kidneys were taken out, one was 9 pounds and the other was 12 pounds, also some of his infected liver was taken out. After recovering for 2 months up in the Mayo, Mike was allowed to come home under supervision on my mom.
Now, 2 years after the surgery, he has been doing very well, and the kidney is functioning great. Sadly, because of his disease several little cysts have formed on the new kidney but it is not bad yet.
Luckily 3 months later Mike's friend "Tim" volunteered his healthy kidney. The surgery took place and the surgeon did not slice Mike and Time to pieces. When the kidneys were taken out, one was 9 pounds and the other was 12 pounds, also some of his infected liver was taken out. After recovering for 2 months up in the Mayo, Mike was allowed to come home under supervision on my mom.
Now, 2 years after the surgery, he has been doing very well, and the kidney is functioning great. Sadly, because of his disease several little cysts have formed on the new kidney but it is not bad yet.