Welcome to Caring4Caitlin. We've created this site to keep family and friends updated on Caitlin. We thought this would be the most efficient way to keep everyone informed. We appreciate all your support and words of hope and encouragement during this time when it matters most. As most of you know, Caitlin was diagnosed with Alpha-1 antitrypsin deficiency which is a genetic disorder which can lead to liver disease in children and liver and/or lung disease in adults..More info on Alpha 1 below if you want to know more:
http://childrennetwork.org/families/a1at.html
https://www.alpha1.org/newly-diagnosed/what-is-alpha-1
http://www.youcaring.com/medical-fundraiser/caring4caitlin-on-to-the-future-/355884
Caitlin was born on October 25, 2013. She was full term and weighed 5 lbs. 9 oz. at her birth. She was little, but appeared healthy in every way. We were discharged from the hospital on October 27, 2013 with the instructions to follow up with our pediatrician, Dr. Sheila Jenkins, in 2 days to check weight. Caitlin's stools changed from the typical newborn meconium, to pale, white breastmilk stools. If Caitlin had been my first baby, I might not have realized that something was off. There was no color to her diapers and I knew that was not right. When we went to see Dr. Jenkins, I was able to show her my concern. She consulted with some of her colleagues in the office and then decided to consult with a gastrointestinal doctor from MN Gastroenterology. He instructed which labs to order. Caitlin's liver function tests were abnormal. We continued to monitor these numbers twice per week and started her on a medicine called Ursodiol which helps move bile through the liver. Essentially, Caitlin's stools were white because the bile in her liver was not reaching her gastrointestinal tract like it was supposed to. Her bilirubin started to rise and she began to appear jaundice. This was not the same type of jaundice that goes away with the bili lights. We were told that there was the possibility that Caitlin had a condition called biliary atresia. This is a condition where the bile ducts in the liver are either deformed or absent. If this was the diagnosis that Caitlin had, she would need a procedure called the Kasai procedure by the time she was 8 weeks old. This would be a major surgery in hopes to create a new route for bile to flow. If this surgery doesn't work, roughly 80% of patients go onto to have a liver transplant either in their first year or at some point in their life. The doctor at MN Gastro, Dr. Arora, referred us to his colleague, Dr. Nissa Erickson who specializes in pediatric liver disease. We were able to get an appointment with her on November 7, 2013. We continued to monitor Caitlin's labs with weekly lab draws. Caitlin was super tiny and would not gain weight. Because of her size, lab draws needed to be done at Children's hospital. Our appointment with Dr. Erickson finally came. It was only a couple weeks after Caitlin's birth, but it seemed an eternity at the time. She explained that we needed to rule out a few other things that can mimic biliary atresia. She sent us over to Children's for more lab work. Again, it was only a few days, but it seemed an eternity for the lab results to come in. Dr. Erickson called me once the results were in. Caitlin did not, thankfully, have biliary atresia. She was diagnosed with Alpha 1 Antitrypsin Deficiency. This is a genetic disorder which we now know that Dan and I are carriers for. Alpha 1 Antitrypsin is a protein produced in everyone's liver and is released into the bloodstream to do its job. A person receives one copy of this gene from their mother and one from their father. The normal gene is labeled Pi M, so a person with normal alpha 1 antitrypsin will be Pi MM. There are several known mutations to this gene. The most common is Pi Z. This gene produces a protein that cannot escape the liver and becomes trapped leading to liver disease in some people. It is not fully understood why only some people develop liver disease. One thought is that some people have better internal mechanisms to dispose of the faulty protein, while some do not. Caitlin inherited two Pi Z genes from Dan and I. Her genotype is Pi ZZ. One of the known functions of Alpha 1 Antitrypsin (A1AT) is to help protect the lungs from damage from infections and environmental irritants like cigarette smoke and dust. Since the protein is not released into the bloodstream, people who are Pi ZZ are likely to develop lung disease as adults. Some go on to need lung transplants as adults. This is why it will be important for us to limit Caitlin's exposure to second hand smoke and other environmental hazards. Some children with Alpha 1 are diagnosed with asthma as children but lung involvement doesn't usually occur until adulthood. As far as the liver disease in childhood, it is very variable. After Caitlin's Alpha 1 test came back positive, our biggest struggle was getting her to grow. Bile helps to absorb the fat and nutrients babies and children need to grow. Specifically the fat soluable vitamins are the ones that children become most deficient in. Caitlin had very little vitamin D and was on high doses to catch up. We also gave her MCT oil, which is a fat that is easy for the body to absorb. Caitlin ended up with an NG tube through her nose to help maximize her nutrition. We were instructed to feed her fortified breastmilk with a specialized formula. Caitlin's bilirubin continued to climb until she was admitted to the hospital on Christmas Eve, 2013. That is when we started this site to keep family and friends informed of her progress. The paragraphs below are the ones Dan wrote after we were admitted. I just wanted to add this to explain the events leading up to that time. Caitlin may still need a liver transplant some day, but many people spontaneously improve over time. We continue to monitor Caitlin's liver function along with her growth. For now, Caitlin's liver is able to function well enough to not need a transplant. There is no cure for Alpha 1. This is where our Caringbridge story started:
On Monday December 23, Caitlins nurse (Janelle) came out to do her weekly checkup on Caitlin. Janelle wondered why labs weren't a routine thing and so Janelle requested that Caitlin get more labs done. On Tuesday December 24, another nurse came out to our house around noon and drew blood and sent them off to the lab. While we were at Church at around 5pm that afternoon we got a call from Caitlin's nurse telling us to take her back to Children's Hospital as her numbers have elevated. So Shauna and I took Caitlin to Children's around 6pm and she was admitted. They did more labs that evening and also a ultra sound on her liver. They also hooked her up to an IV and ran antibiotics as they were concerned she may have an infection in her liver. Shauna I spent the night with Caitlin at Children's while Shauna's parents took the boys for the night. We were very said not to be able to spend the evening and the next morning all together for Christmas but we also know that this little girls health is more important. However, we were able to watch the boys open gifts live via the I phone and later Christmas day Shauna and I were able to go home and have dinner with the boys and Shauna's family. Shauna then returned to Children's to be with Caitlin and I took the boys home. We are trying to provide the boys as normal life as possible. So as of today, December 26, Caitlin is still at Children's. We are waiting for more lab results today. It looks as she will be staying there for a few days at this time. They have a great team of doctors from Children and from Minnesota Gastro Specialist working on a game plan to help her gain more weight and to determine what else needs to be done to get these numbers down and to get her liver functioning properly. They may have to do a biopsy on her liver so right now its a waiting game until we hear more. There is a possibility that she will need a liver transplant with this disease. The good news is that a liver transplant is usually less than 2% with this disease. We will update as we know more. Thanks again for all our thoughts and prayers. Dan, Shauna, Liam, Roman and Caitlin
