Pedigree

[Click to Enlarge!] 

As you can see, John who is [homozygous dominant] diagnosed with CF, Jackie [heterozygous]a carrier, Cathy [homozygous recessive], and Frank [homozygous dominant] who is diagnosed with CF are my grandparents as well as Sarah's and Josh's. Natalie and Ethan are our parents, who are both carriers. 

Sarah was diagnosed with CF from inheriting two defective chromosome 7 with the gene responsible for CF [one from each parent] 

Sarah and her husband are allowed to have children, but it is taking them a very long time. Yet, they are not giving up! Sarah being diagnosed [homozygous dominant] and Jerry being a homozygous recessive know their child is going to be 100% not diagnosed with CF but still a heterozygous. 

Because our parents are both heterozygous, there was a 50% chance their children were going to be heterozygous, 25% homozygous recessive and 25% homozygous dominant. My brother Josh and I are both heterozygous, while Sarah fell into the 25% homozygous dominant category. If Josh and I both marry homozygous recessive indiviudals, we have a 50% chance our children will be heterozygous and a 50% chance of them being homozygous recessive. However, if we marry individuals who are diagnosed with CF, our children have 50% chance of being heterozygous and a 50% chance of them being homozygous dominant and inheriting CF. 

This is my last blog.. upsetting, I know. I hope you all enjoyed listening to my sister’s journey battling with Cystic Fibrosis in my point of view. Remember to keep her in your prayers. Thank you. 

MLA Format- Websites

"Cystic Fibrosis - PubMed Health." Web. 11 May 2011. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/>.

Cystic Fibrosis Foundation - Home. Web. 11 May 2011. <http://www.cff.org/>.

"Cystic Fibrosis." Lab Tests Online: Welcome! Web. 11 May 2011. <http://www.labtestsonline.org/understanding/conditions/cystic_fibrosis.html>.

"Cystic Fibrosis Symptoms, Causes, and Treatment on MedicineNet.com." Web. 11 May 2011. <http://www.medicinenet.com/cystic_fibrosis/article.htm>.

"What Is Cystic Fibrosis, Pancreatic Cystic Fibrosis." National Heart, Lung and Blood Institute. Web. 11 May 2011. <http://www.nhlbi.nih.gov/health/dci/Diseases/cf/cf_what.html>.

Early Diagnosis

My parents were not aware that they were carriers of Cystic Fibrosis. Scientists have now made it possible to know the chance of your children being diagnosed with Cystic Fibrosis. This early diagnosis is a genetic carrier testing. This is a blood test that can help detect carriers, who could pass this illness onto their children. Scientists have also made newborn screenings possible to find babies born with certain health conditions in order to begin treatment early and prevent lifelong problems. The first step of this screening is a blood test which is done a couple days after birth. If this screening for Cystic Fibrosis is positive, it means that high levels of immunoreactive trypsinogen [IRT, which is an enzyme created by the pancreas] were detected. Depending on what state you live in, depends the next step in this process. Most states do another blood test to find out if the baby has a mutation of the Cystic Fibrosis Transmembrane Conductance Regular [CFTR]. Once detecting a mutation, the third step is the sweat test. This test measures the amount of salt in a person’s sweat. Usually people with Cystic Fibrosis have a higher amount of salt than normal. If Sarah and Jerry end up having a baby I know that they will go through these procedures in order to start treating this illness as soon as possible to increase the years of the babies life. 

Chromosomal Research

to really get a picture in your head of what is going on

A defective CF gene on chromosome 7 is responsible for causing Cystic Fibrosis. In order for an individual to be affected with Cystic Fibrosis, they must have a mutation in the CF gene on each chromosome 7 [one abnormal copy must be inherit from each parent].Normally that gene would produce a which is a chloride channel protein called cystic fibrosis transmembrane regulator [CFTR], but when it is defective, it produces a contaminated CFTR protein. Usually, this contaminated protein is a result from the base deletion of 3 nucleotides [CTT]. Individuals with the contaminated CFTR protein lead to abnormal mucus in the lungs and pancreas  and defective/impaired protein digestion. This mucus then builds up and can cause serious permanent damage in organs.

Symptoms Got Worse..

Sarah's lungs- in desperate need for lung transplant

Sarah, now at the age of 25, is suffering some severe lung infections. Dr. Fisher is recommending for her to get a lung transplant but she can’t face the facts just yet. It hasn’t hit her that her disease has taken over and is this bad. The doctor also said that soon her gallbladder might have to be removed. How can a disease take over a whole persons life? How is this possible that your life is revolving around your effort in surviving and surpassing this type of illness? Lately Sarah has told me that she has been coughing up mucus that sometimes has blood in it. There is no cure for Cystic Fibrosis but newer treatments have allowed patients to live past 40, but this is still a very short life span when compared to the average life of a healthy person.                        


Now a days, Sarah is in a loving and healthy marriage. Her and husband, Jerry, have been talking about children. They have tried several times but things are just not clicking. The two have recently seen a fertility doctor and the doctor was suspicious that it was the Cystic Fibrosis disease getting in the way, once again, just like all throughout her life. They found out it actually was, since the thick mucus is blocking the way of the sperm to get through, her eggs can not fertilize. Usually females that are diagnosed with Cystic Fibrosis have a slim chance of having children, but it is possible. I have just received recent news that the two aren't giving up yet. 


Good luck to them!!! 

The Organs..

Aside from the fact that Cystic Fibrosis severely affects the lungs, it also affects various parts of the body. Usually, the bacteria grows from the thick mucus build up and it causes infections that can lead to serious lung damage. Breathing passageways can become blocked, and air can’t get through. If the inflammation or infection in the lungs is very severe, the only way to survive is by getting a lung transplant, this however, does not cure Cystic Fibrosis. Cystic Fibrosis also affects the Pancreas. This disease causes secrete enzymes and insulin [controls blood sugar] to become thick, when this happens the pancreatic ducts become clogged, enzymes cant get past, food isn’t digested properly and body can not absorb nutrients. As a result, you may not gain weight but rather even lose weight.To some individuals with Cystic Fibrosis, the defective parts of the pancreas make it so that insulin is not available to the cells, which causes blood sugar level to rise and results in insulin dependent diabetes. Thank god Sarah’s symptoms haven’t gotten this bad! 

This illness also affects the liver, gallbladder, intestines and reproductive organs. Thickened secretions can clog up these organs and prevent them from working properly. If this happens, the liver could become permanently damaged and the gallbladder is usually removed. Thick secretions also form in the intestines which can cause life threatening blockages. The intestines that are affected are known as meconium ileus. With Cystic Fibrosis, thick secretions in sperm canal cause blockage that prevents sperm from getting through and are almost always infertile in males, and females able to reproduced but often very decreased fertility because of the thick mucus blocking the entry way of sperm.

As well as Cystic Fibrosis affecting these organs, it also affects the skeletal system. People who have Cystic Fibrosis may have weaker bones than others as a result of their bones containing less material. This can sometimes lead to arthritis, or the bones getting easily fractured or broken. 

The Beginning..

I remember sitting at the doctors’ office while the doctor Fisher was talking to my whole family, before getting diagnosed, Dr. Fisher, explained to us why he thought Sarah is a candidate for Cystic Fibrosis. She was only about 13 months old, and was put through sweat tests, along with blood tests, and chest x-rays. The sweat test measured the amount of salt in her sweat. After seeing the outcomes, it was evident Sarah had Cystic Fibrosis.  This was a horrific moment, since neither my parents nor I have Cystic Fibrosis, it was so unexpected. Symptoms started just after she was diagnosed- her lungs were starting to ache and then got a really bad cough that wouldn't go away. She also would not have a lot of energy, and started losing weight. These are just some of the early symptoms with Cystic Fibrosis.

I recall just about 10 years later, Sarah was still struggling with Cystic Fibrosis since there is no cure. For the most part, she had a daily life. However, Sarah had to do some airway clearance techniques, anywhere one to four times a day, it was such a hassle, but an obligation in order for her to survive. This helped remove thickened mucus from the lungs, to prevent bacteria to build up. Sarah also had to take digestive enzymes with every meal because the thickened mucus in the pancreas and intestines disrupts the normal flow of the pancreatic enzymes. As well as these two things, Sarah also has to take antibiotics to control lung infections, which can be caused from the mucus in the lungs. She also has to go to frequent visits at a CF [Cystic Fibrosis] clinic. Sarah would have diarrhea very often as an affect from the illness. Sarah also had some difficulty exercising during her gym class, as a result from her breathing problems and chest pains. Since she did not want to publicize her disease she ended up failing the class for the year. Especially when she would start sweating, all the children would make fun of her because her sweat was salty. This just kept bringing Sarah down, until she finally decided to go public about Cystic Fibrosis.