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By his dad, Brad
Alexander, and his twin brother Benjamin, were born in late 2003. We were told the day after they were born that Alexander had biliary atresia and probably wouldn't survive. Quite a shock after being told the day before that all was well and both boys looked "perfect".
Fast forward thru 17 days in the NICU and 2 and half months going from doctor to doctor, we finally got a diagnosis of alpha-1 antitrypsin definciency. Alexander's liver values (AST and ALT) have never been in the "normal" range, but still haven't gotten near 1,000 so the doctors aren't too worried yet. We continue to do blood work every 3 months or so to follow the trends and learn more.
Alexander struggles with horrible reflux, lots of vomiting, and with putting on weight. He has never been on the growth charts. Luckily, looking at our boys you would never know there was anything wrong. Alexander is a very active little guy and enjoys getting in all kinds of mischief with his brother.
By her mother, Michelle
My daughter, Alexandra (Ali), was born in Kearney, Nebraska in September of 1991. At the age of 2 weeks she was diagnosed with Alpha 1 Antitripsin Deficiency. The doctors told us that she may someday need a liver transplant because it seemed, in her case the Alpha 1 was affecting her liver. She remained healthy and continued to grow and thrive. The doctor put her on a special formula and she was given extra vitamins. They continued to monitor her liver function numbers with monthly blood work. When she had her regular check up at 4 months of age, the doctor became somewhat concerned because her liver function numbers were going up, a sign that something was going on with her liver. She sent us to Omaha to meet with a pediatric liver specialist. He wanted to do a biopsy, but just by feeling her stomach and the area where her liver was, he decided that we should skip the biopsy and have her evaluated right away for a liver transplant. This was quite a shock to my husband and me. We thought she had been doing very well.
We took her to the University of Nebraska Medical Center for an evaluation. After 2 days of testing, the doctors decided she did indeed need a liver transplant. So at the age of 5 months, Ali was placed on the transplant waiting list. The doctors at the Medical Center told us the average wait for a pediatric liver was 4-6 months. We were totally shocked when 8 weeks after she was placed on the list (April 1992), we got the call saying they had a liver for her. When Ali came out of surgery after 7 hours the first thing we noticed was how pink her skin was. No more jaundice. We knew this new liver was working like it should. She did very well, spending only 10 days in the hospital and setting a pediatric record for shortest stay in the hospital after a pediatric liver transplant.
She had a few “bumps in the road” early on. She was hospitalized for 17 days in May and June of 1992. She had a couple 2 day hospital stays at the ages of 2 yrs. and 4 yrs. for fevers of unknown cause. She has gone from having daily lab work done to weekly labs to once every 3 month lab work. When she came home from the hospital after her transplant she was on about 7 medications and now she only takes Prograf – her anti-rejection medication.
We moved to Lawrence, KS in October 1997 and things have continued to be great. We go back to the Medical Center in Omaha every summer for her yearly checkup and for a reunion with her transplant buddies. In 2004, Ali participated in the US Transplant Games as a member of Team MO-KAN, bringing home a gold medal in table tennis, a silver medal in bowling and a bronze medal in volleyball. She looks forward to participating in the 2006 Transplant Games in Kentucky. Ali is now a happy, healthy teenager enjoying the second chance at life she was given as an infant. She lives life to its fullest and is active in helping to promote organ and tissue donation. We are so thankful for her donor family who made the decision to donate their baby’s organs and give Ali the gift of life.
I was born in September 1976 with alpha1 antitrypsin deficiency. My mother noticed that there was something wrong with me. I wouldn’t eat or absorb milk and I had failure to thrive. They at first didn’t know what was wrong with me, so my mother had me tested. Tests soon showed that I had alpha 1 antitrypsin deficiency which is a rare lung disorder.
Alpha 1-antitrypsin is a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. There are several forms and degrees of deficiency. Severe A1A deficiency causes emphysema and/or COPD in adult life in nearly all people with the condition, as well as various liver diseases in a minority of children and adults, and occasionally more unusual problems. It is treated by avoidance of damaging inhalants, by intravenous infusions of the A1AT protein, by transplantation of the liver or lungs, and by a variety of other measures, but it usually produces some degree of disability and reduced life expectancy. The disorder itself is usually found only in the Caucasian race and its genetic, meaning the mother and father both have to be carriers.
After my mother found out I had this illness, she had all of my brothers and sisters tested, (I was the last of 4) and it was soon showed to be that my older brother also had the disorder, but for some reason or another, which I don’t think is known among doctors, he did not have liver problems. After I was diagnosed as an infant, I then spent the first 10 years of my life in and out of CHLA in Los Angeles for GI bleeds. I had severe ascites of the liver and my belly was bigger then my head as a child. Because of the emphysema I was tired all the time and my mother had a hard time taking me to high elevations because I couldn’t breath. I would throw up blood and have bloody stools. My liver was failing.
At age 3 I had 3 ft of my small intestine removed, (for reasons I’m not clear). I then slipped into a coma and they told my mother I wouldn’t make it to see my 4th birthday. (I think these are the ages). In the late 1970's or early 1980's, when liver transplantation was new, doctors offered my mother a chance to transplant me, but because back then the only rejection medication they were using was prednisone, my mother declined because she would see the children pumped full of this steroid with big cheeks and other severe side effects and my mother didn’t want to put me through that. (She probably was given information that I was stable, but I’m not sure).
In 1985, researches finally came out with the drug Cyclosporine, which finally increased the success of transplantation. I was soon worked up for a new liver and placed on the UCLA Transplantation list. During the summer of 1986, Channel 7 news, (ABC News) did a cover story about me and how I was on the waiting list for a new organ. In December, I think it was like 1 week before Christmas, my mother's beeper rang. They had a liver for me from Texas. (I don’t have details and I don’t remember). I was flown by helicopter from my town in La Crescenta, Ca to UCLA Medical Center. Twelve hours later I was transplanted. Because transplantation was still new, my transplant operation took a total of 12 hrs. It was so long that the back of my heels eroded from lack of circulation, causing ulcers.
When my transplant was over, I was stable for a little bit, but then I declined again. I went into not only liver failure, but kidney failure as well. I lost I think it was 1/4 to 1/2 of my kidney function, again, I’m not sure, ask my mom. I was very, very jaundice, (yellow). And without another liver, I would die. The Lord then gave me another liver. This time the liver was from Minnesota. Three weeks later, I was wheeled into the hospital room again. I remember the surgeon, Dr. Busitil, (who is now a famous surgeon), told me that they were going to transplant me again, and I told him that I was ready. I was more than willing to go back into the operating room. I then got the second transplant. This time it took, I was given a third chance at life. I slowly got better and got released. One month later I rejected. I rejected 2 more times after that once in 1989 and the second time in 2000. I was the one of the first group of 100 transplant recipients to receive the drug cyclosporine.
In 1996, I gave birth to my little girl. Despite the fact that I had to take anti-rejection meds throughout my whole pregnancy, my daughter came out completely healthy. In 2005, I was diagnosed with thyroid cancer. I had a complete thyroidectomy with radiation and have been cancer free ever since. I’m a born again Christian and I hope to serve the Lord by giving hope to those who are either waiting for a transplant or have just received a transplant. To let them know that there is hope and that Jesus died on the cross to give us not only a new organ but to give us life. I owe my many chances of life to God, because He is the one that moved the hearts of those parents to donate the organs to those who are dying. The gift of life is precious and not to be taken for granted. I hope I have brought hope and encouragement to anybody who reads this testimony.
In May 1996, our youngest child Catríona (Irish spelling for Katrina) was born with a genetic liver disease called Alpha Antitriypsin Deficiency. This disease caused cirrhosis of her liver. Catríona fought bravely the many symptoms that accompany end-stage liver disease, such as ascites, severe itching, malnutrition, bleeding, vomiting, etc. A lot of time was spent in the hospital. At six months old, she received a g-tube and central line and was listed for a transplant.
In September 1999, Catríona received a new liver. After a few rocky weeks in ICU involving two scary episodes of bleeding from esophageal varices, Catríona came home to a new life. Despite a few hiccups along the way, Catríona continues to thrive.
Catríona is very involved with Irish dancing and loves to play with her older siblings. To make a very long medical story short, she has gone from a very ill child to a well one! Catríona is our miracle!
By her mom, Jen
In April 2002, our Gracie entered the world screaming as loud as she possibly could. She’d just been “extracted” from her warm, soothing water world by the unexpected hands of a surgeon. It was as if she was saying, “Put me back in there.” But, I remember feeling so relieved when she cried and wailed loudly.
In the previous two weeks, I had been on the severe preeclampsia roller coaster ride with sudden onset swelling/edema (40+ pounds), dangerous high blood pressure, vision disturbances, and kidney failure issues, the worst headache of my life, and lots and lots of bed rest on my left side. I was only 34 weeks pregnant. It didn’t seem like life could be any scarier.
Well, the moment I saw my baby Gracie, I forgot about what I was experiencing. All that I could see, hear, or think about was Gracie, our gift from God. My husband, Charlie, was all grins, too.
Grace was born small for gestation because of my preeclampsia, weighing in at 3 pounds, 14.5 ounces. She had some difficulty breathing because she was a bit premature so she went straight to NICU.
About two weeks into Grace’s stay in the NICU, her neonatologist mentioned that something might be wrong with her gallbladder, and he wanted an ultrasound with some blood work. He was so casual about it that we didn’t think much of it since Gracie was being put through the gamut of NICU experiences anyway.
In NICU with Gracie, we passed some of the time by reading her chart from top to bottom. Most of the time, we didn’t know what we were looking at but did see abbreviations in the chart that had abnormal values. I can still picture that piece of paper in my mind. The letters AST, ALT, GGT, and Alk Phos had abnormal results. We both wondered what that meant.
We asked the doctor about the ultrasound results. He said they were normal. I also asked about her blood work. He said that premature babies often have abnormal blood work, but that he was calling in a specialist from our local Children’s Hospital to check her out just in case since her direct bilirubin was still elevated.
I can’t remember the exact day that the gastroenterologist found us in the NICU, but I do remember Charlie and I were caught off guard and quite confused. The doctor kept asking us if any members of our families had ever had emphysema or liver issues. I didn’t know of any and neither did Charlie. I finally asked her, “Why?” Then came the words that changed our lives forever…Alpha-1 Antitrypsin Deficiency. I thought, “What did she just say? Did she just say genetic disorder? Alpha what? Possible liver transplant? Huh? How do you spell that? We carry what gene?”
Well, Grace went home with us 23 days after she was born. She struggled to gain weight, took a battery of fat soluble vitamins, threw up quite a bit, and was generally a fussy baby. She eventually started to gain weight when she was about 6 months old. Her liver labs started to go in the right direction, and life just kept going on and on.
Now, Grace is a healthy, almost 3 year old. Looking at her, you would never know that her liver doesn’t work properly and that her lungs need vigilant protection from cigarette smoke, pollution, and other irritants. Gracie doesn’t understand that she has a genetic disorder. All that she knows is that playing with toys, reading books, spending time with Mommy and Daddy and chasing our cat is what life is all about. Only time will tell if Alpha-1 will ravage Grace’s liver or lungs. Meanwhile, Charlie and I treat her like the precious gift that she is, remembering that Grace’s liver allows her to LIVE.
Jamie was 4 years old when she was diagnosed with Alpha-1-antitrypsin deficiency (A1AD) and cirrhosis of the liver. Jamie’s liver disease steadily worsened until she received her liver transplant at the age of 7. Since her transplant there have been many clinic visits and bloods draws, but Jamie is happy to report that she has been hospitalized just twice during the past 11 years for rejection.
Jamie graduated from high school in 1997. She is attending college and pursuing her dream of a career working with transplant patients.
Jordan was diagnosed with alpha 1-antitrypsin deficiency when he was just two months old. His liver was already terribly damaged and he was listed for a transplant almost immediately. Six months later Jordan and his family got the call. Jordan received his liver transplant at the University of Nebraska Medical Center in June 1996.
Since his transplant Jordan has had to deal with many ups and downs. At times it's been a real struggle. But Jordan is a fighter and today he is healthy, happy and full of life. His mother Suzette says "Jordan is truly a gift from God and we know that He has some big plans for him and his life.
Livia is eight months old and has alpha 1-antitrypsin deficiency with mild to moderate cirrhosis. She is being followed at Primary Children's Hospital in Salt Lake City, Utah. Shortly after birth Livia was also diagnosed with Beckwith-Wiedemann syndrome. Her mom, Jill, describes her a happy and very determined baby. "Whatever Livia set her mind to do, that's what she does!" Her new favorite pastime is bouncing in her baby bouncer.
By his Mom
Our son was born with a rare disease called Alpha1 Antitrypsin Deficiency. He was jaundice when he was born and seemed to get more yellow as the days went by. We did a simple blood test when he was 6 weeks old which confirmed the disease.
The next week we did a liver biopsy which again confirmed the A1AD along with the fact he did have some scarring. The Dr's kept telling us most people do OK, but the only cure was a liver transplant,. We did lots of research and didn't find out a much information on the disease, it is so rare. We had information sent to us from the A1AD Foundation and was able to get in with a Dr. that was researching A1AD and also was a GI Dr. We had to travel to St.Louis for many Dr visits. He continued to grow but stayed jaundice- we had labs done once a month, as long as he stayed well. He had several upper respiratory infections throughout that next year.
In February 2004, Roman caught a virus that was going around at Church, his stomach got bigger and he was very lethargic for two weeks. We took a trip to St. Louis to see our doctors. While in St. Louis we learned that his liver was not working and Roman had developed asciteies.
On March 4,2004 we found out Roman needed a liver transplant, he needed to receive a transplant in 9 months or he would be too sick to get one. The news devastated us. Roman had his transplant evaluation and was put on the waiting list. While we waited for a new liver, Roman continued to get worse. Roman had unexplained fevers that landed us in the ER The veins on his cheeks, chest and stomach seemed to be showing up more and even spreading. His stomach was so big he could never wear anything but one piece outfits. His liver and spleen were four and five times bigger than they should have been which caused him to breath heavy. The liver and spleen were so large he lost over 50% of his lung capacity.
We decided to move forward with testing family members for a living donor. We soon found out Roman's Dad, Steven was a match. A few simple test where done and six months later we made our way to St. Louis Children's Hospital for the transplant. I was so thankful he was a match, but really scared because Steven had always been with me at Roman's doctors appointments. God gave me a peace and showed me that it was Him I needed to lean on and not my Husband for strength.
Steven donated 25% of his liver and left the hospital 5 days later. Roman did wonderful and was out of the hospital 9 days. He has had no bouts of rejection. He has had a few bile duct issues and needed to have a stent put in for 8 months and has a parasite contracted from water. It has been a long 4 years for our family and Roman has gone through more than most do in a lifetime. God has a purpose for Roman's life and ours and we want Him glorified through all we do. Roman is now a strong and active 6 1/2 year old boy who likes to play with his dog Rocky and 2 older brothers.
We have a website set up for others to keep updated through Roman's life and links that can point you in a direction if you are dealing with A1AD or having a Liver Transplant. www.romanholden.com.
By his mom, Mary
At birth Sean appeared to be a "perfect-in-every-way" 6 lb.-15 oz. newborn. He had slight neonatal jaundice, but it was not enough to require phototherapy. When I took him back to the pediatrician at 2½ weeks old because the whites of his eyes were yellow, and his skin slightly yellow, I was dismissed with "Relax, that's okay for a breast-fed baby for 4 to 6 weeks." There were several more doctor visits during the first weeks of his life, but I was always reassured that everything was ok. I took him in again at 7 weeks because he had been on a 3-day, 2-night crying jag and was spitting up constantly. I thought we would talk about my recent addition of a supplemental bottle of Enfamil and consider changing to Lactofree. But the pediatrician stopped me short and told me he was much more concerned that the baby was so jaundiced.
We did blood work that day and I could tell when the doctor phoned, he was concerned. He asked me to bring Sean back the following week, which was around 9 weeks old. This time we saw a different pediatrician in the group who ordered more blood work. She told me she was going to refer Sean to a specialist in pediatric gastroenterology. I wasn't surprised at this point since Sean's eyes were flaming yellow-green and his skin was greenish. I was surprised, however, when she asked if I could take him that same day!
An appointment was secured the following day and the pediatric GI scribbled on a paper towel for me his line of thinking: 1) biliary atresia, 2) Alpha 1 antitrypsin deficiency and 3) infection. Then he explained he wanted to admit Sean to All Children's Hospital in St. Petersburg, FL, for a diagnostic workup, including a liver biopsy. I hesitated as soon as he mentioned "biopsy," but when he said the word "transplant" my mind went numb. We spent four days in the hospital and the doctor ran a battery of tests, including a needle liver biopsy. He told us he felt sure it was Alpha 1.
We went home on a Friday with our still-yellow baby. I was skeptical. The doctor phoned on Monday and confirmed Alpha 1 with the phenotype results. The liver biopsy report showed damage to the liver. Later that week we went back to the doctor's office and were told that our 10 week old, 12 lb. son had Alpha 1 antitrypsin deficiency. The doctor told us that 90 to 95% of these kids are fine and our son would just need to be monitored.
Several months later we moved to the Boston area. When I took Sean for a what I thought was a routine checkup with a new pediatric gastroenterologist, the doctor was very concerned that Sean's liver felt "stiff." Instead of asking me to return in 6 months as I expected, he asked me to come back in 6 weeks. Over the next few visits, he gently changed my mind from thinking Sean was going to be fine, to realizing that Sean was probably going to need a liver transplant. Even when he urged us to let him put us in touch with the local transplant people, I told him I didn't want to rush into that scene -- I was still thinking a transplant could be 8, 10, 12 years in the future. Since it was the week before Christmas, the doctor didn't push.
When we went back in February, 1998, Sean was 18 months old. At this visit, the doctor firmly told us "I'm calling the Chief of Pediatric Gastroenterology at Massachusetts General, and asking him to give you an appointment." A few weeks later, we had our consult at Mass General. I was still in denial, hoping the doctor would say 'come back next year,' but he said very matter-of-factly at the end of our visit, "I'll add him to the transplant list." I was shocked.
Sean was listed at Massachusetts General Hospital in April, 1998, and had several more appointments that year as part of his preparation for transplant. In January, 1999, my husband was again transferred, this time to Ohio, and we brought Sean to Children's Hospital in Pittsburgh. After our session with the clinical nurse specialist (who I like to call the teaching nurse) where she covered, among other things, active and inactive listing, I went downstairs to the transplant director still hoping Sean could be listed as inactive! Naturally, it didn't happen that way. Once he had examined Sean and browsed through his records, he said he would recommend Sean be accepted at Children's and he hoped to transplant him within the year.
As of October 1, 1999, Sean has been on the UNOS list for a liver for 18 months. Very fortunately, we have so far not had any episodes of bleeds or ascites. His cirrhosis has progressed to the point where he will soon be classified as "end stage" liver disease. He sometimes has yellowish eyes. There are lots of things we wonder about--poor sleeping, diarrhea, milk intolerance, etc., but otherwise he is a delightful, happy little guy. He loves Blues Clues, Hot Wheels cars, his twice weekly pre-school class, and riding his trike.
At our most recent doctor's visit in Pittsburgh (9/23) we were basically told all we are waiting for is "a match" for Sean's liver. Any and all prayers are certainly appreciated. If there is any information I can share, or questions I can answer for other parents, please feel free to contact me. Thank you.
Update: The above picture was taken 6 weeks post transplant. Sean received his new liver in March of 2000 and is doing very well!