Alagille Syndrome

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Emmalee

Emmalee

By her mom Julee

Julee Emmalee Olivene is our beautiful daughter born with Alagilles Syndrome. Emma is what we call her and her middle name is from her Great Grandma Olivene. Emma is just about the sweetest baby girl you would ever meet and she is definitely spunky too.

Emma was diagnosed with Alagilles at 2 weeks of life, She is 8 months old now and learning to crawl. She says Mama, Dada and is starting to wave. She is a daddy's girl and can eat more vanilla yogurt than anyone I have ever met. We are very optimistic about her future and have turned to the Lord for strength and support. Emma has brought more love and joy to use than anything on this earth and she has taught us not take life for granted and to live each moment with God by our side. We truly are blessed to be her parents.

Our journey with Emma has just begun. I can't say it has been easy but when I look into her eyes and see them dance with glee my heart gets a little lighter and everything seems to be Ok at that moment. When Emma was in the NICU the nurses would all comment on how loud she could cry. "The girl has a set of lungs" they would say. I knew then that my baby was a fighter and had a little spirit on her that no one was going to stop. Emma does not cry much these days. She even tolerates blood draws and doctors. She enjoys trying to steal their name badges the most.

Thanks for reading our story.

Evan

Evan

By his mom, Sherry

Evan's Web site: http://www.caringbridge.org/in/evanstrongwarrior/

In April, 2002, our third son, Evan Matthew was born. Ironically, this date is also my older brother's birthday. What was supposed to be a happy, joyous moment in our lives turned out to be a whirlwind of medical fright. Just twelve hours after first holding Evan in our arms, he was whisked away to our state’s children’s hospital via their ambulatory transport team.

The team arrived for him around 5:45 pm; I kissed my newborn good-bye, squeezed my husband’s hand and watched helplessly as they wheeled Evan away in an isolette. Although Evan was quite stable at that moment, the cardiologist felt the heart defect he heard needed immediate repair. The wires attached to all the medical equipment seemed to entangle his entire tiny frame. Weighing in at just five pounds and fifteen ounces and only measuring eighteen inches long, he seemed very fragile. In the months to come, our local cardiologist and the children’s hospital cardiologists had an on-going debate whether Evan’s congenital defect was Tetralogy of Fallot or pulmonary stenosis. We didn’t care what they called it---we just wanted it fixed. Five minutes after the transport team pulled out of the Women’s Hospital parking lot, my husband and I were on our way home to say good-bye to Trevor and Trent. I dreaded explaining the situation to his very proud big brothers.

The three and one half hour drive from our home to the children’s hospital was grueling. It didn’t help that I myself was just fourteen hours post partum. We arrived around 11:45 pm. I remember thinking, “Let’s just go straight up to his room so I can hold him!” As we entered the NICU for the first time, alarms were beeping, machines were humming and nurses were tending to the smallest babies that I’d ever seen. Evan’s isolette was situated just inside the door of the unit. The cardiologist on call had just finished reading his echocardiogram. She explained that Evan would need a shunt the next day so that his lungs would receive adequate oxygen. The shunt was a temporary fix to a major heart problem that would need to be evaluated as he grew. I heard everything she was saying, but it took awhile for it all to sink in.

So at just over one day old, Evan had his first major surgery. Our whirlwind of medical fright seemed to be calming down. Just seven days after his heart surgery, we brought Evan home for the first time. The nurse who walked us out told us she’d never had a baby with Evan’s type of defect leave the hospital this early. We gave God all the glory. The eight days we were at the hospital our faith in God’s power to heal helped sustain us. We knew that our God is a healer and that Evan would be okay. Each day that he progressed, I was reminded of the meaning of his name. Evan means “strong warrior” and Matthew means “gift of the Lord.” At the time we chose his name, little did we know that he would need to be a strong warrior fighting for his life.

I wish I could say that Evan’s troubles ended here, but unfortunately his tumultuous medical storm didn’t end with the heart surgery. Just a little under six weeks later, his cardiologist asked our pediatrician to test Evan’s liver function. Evan had been quite jaundiced for almost three weeks by then. “Not again…hasn’t his little body been through enough?” I thought to myself. The blood test was performed on a Thursday and the results came back on Friday showing an elevated bilirubin count. During a phone call, Evan’s pediatrician explained that there are two types of bilirubin, direct and indirect. Many children who have elevated indirect bilirubin counts can be placed under a “bili light” and all is well. However, Evan’s bilirubin count was elevated due to the direct bilirubin and this is an indication of greater significance. Evan was going to need immediate diagnosis to rule out liver problems. “Okay, we can handle this; God always keeps his promises.” The diagnostic test to rule out liver problems is a HIDA scan. Evan’s scan showed that his liver was not emptying bile into his small intestines. This was what our pediatrician had feared. He sent us back to the children’s hospital for the second time. (Later, we found out he should have been given phenobarbital for 5-7 days to aid in bile production. Babies this small can have false results from the HIDA scan if their livers aren’t “primed” with the drug prior to the scan.)

I’ll never forget the first and second week of June 2002 as long as I live. For the second time in his short life, Evan had another major surgery. In order to accurately diagnose congenital liver defects, an infant’s stomach is opened up so the liver can be biopsied. Long story short, the surgeon informed us that our little baby would need a liver transplant because he had biliary atresia (BA). With BA the body’s biliary system eventually becomes so damaged that the injury to the liver is irreversible. Even with this horrific news, Dirk and I knew Evan was going to be all right. We weren’t going to let the devil waiver our faith and steal our peace. God keeps his promises. He is the Alpha (beginning) and the Omega (end). I can’t say that I didn’t grieve. My heart ached that Evan had to be in so much pain. Dirk and I prayed over him daily.

After five days of recovery, we were sent home to await the big transplant team consultation. Later we discovered that we had to wait two weeks to see these doctors because they were on vacation. Ironically, we never made it to that appointment because God intervened. A couple days after returning home, something inside me said to call our insurance company. This one little phone call saved our son from going through a liver transplant. As it turned out, our state’s children’s hospital was not on the list for acceptable transplant sites. We had to choose either Chicago Children’s Memorial or Cincinnati Children’s Hospital.

For the first time since Evan’s birth, I remember feeling totally overwhelmed. I began crying uncontrollably. I hated the thought of Evan having to change hospitals and change doctors. God is so good though. We soon found out that this horrific news was actually a blessing. The case manager nurse at my insurance company encouraged us to take Evan to Cincinnati so I called immediately. The nurse from the GI department in Cincinnati was great. After gathering all of Evan’s information she called back within an hour. Several bits of information had jumped out at her during our initial conversation. Upon her return phone call, she said Dr. B wanted to re-evaluate Evan. Many of his medical symptoms seemed to relate to another liver disorder, not biliary atresia.

Many of the medical issues I had shared with the Cincinnati nurse were also expressed to the doctors from our state. My husband and I both wondered why were these same details jumping out at Dr. B but had been disregarded by the doctors back in June? Evan had spinal cord anomalies, a swollen left kidney, liver dysfunction and a heart defect. Dirk and I had read on the Internet that these problems tend to follow a syndrome called Alagille. As we had suspected, Dr. B wanted to rule this syndrome out before placing Evan on the transplant list there. Only 3-4% of Alagille patients ever require a liver transplant. So, on June 19, 2002 Evan had his second liver biopsy. This time it was in Cincinnati and this time he was not opened up. It was simply a needle biopsy.

The day before he had the procedure, we met with Dr. B. God put him in our path. Since he is the head of the GI department, Dr. B happens to only take new patients every now & again. The best part is that he is also one of the top three doctors in the United States for dealing with Alagille syndrome. Even before the liver biopsy, he was 99% sure Evan did not have biliary atresia. A biopsy that showed 30-50% of the biliary ductules indicates Alagille syndrome. As he had suspected, Evan’s biopsy the next day showed 30%. Just weeks earlier, the other pathologist saw zero ductules. We know this was God’s work. We thanked God for this good news, but knew that God had even greater things in store for Evan. Another finding that is one of the indicators for having Alagille syndrome is a thickened Schwalbe’s line. Dr. B had us see an ophthalmologist right away, and Evan’s line was indeed thicker. Medically, this eye finding causes no problems; it is just another piece of the puzzle to help diagnosis Alagilles. We wondered why this simple eye exam wasn’t performed before Evan was put through a surgery back in June.

Evan was discharged from Cincinnati on June 20th weighing 9 lbs. 4 oz. & measuring 21 ½ inches long. We continued our daily regimen of prayer and medicine for him. He had to take vitamins A, D, E, & K, Poly-Vi-Sol with iron and Actigall to help with the liver issue. For his heart, he was placed on a blood pressure medicine, Atenolol. To prevent clotting around the shunt in his heart, he had to take baby aspirin. Along our journeys, Evan had also been diagnosed with bladder reflux. He is supposed to be re-evaluated at one year to see if it is gone. So, finally to prevent an upper urinary tract infection he was prescribed amoxicillin. Just three weeks later (he was 3 months old) at his check-up appointment he had grown 1 ¼ inch and gained 1 lb. 4 oz. We thanked God again. The doctor said most Alagille patients do not grow this well. The rest of this check up was exceptional as well. The doctors were so pleased that we didn’t have to return for three months.

Seven months later…

I wrote the beginning of Evan’s story back in August of 2002. I wanted to have everything fresh in my mind and believe it or not, I have typed the shortened version for you! Evan is now going on eleven months old and is progressing as God has promised us. In my prayers, God often reminds me…he is the Alpha and the Omega, the beginning and the end. We believe the wonderful gift of life from conception is from God (the beginning). Satan might have interrupted Evan’s development in my womb, but God is the Omega and he will finish and complete everything that has been stolen from Evan. We know Evan will have his inheritance of complete health restored to him. Evan saw the liver doctor in August and was doing so well they said, “See ya in February.” He now weighs nearly 16 pounds and is 27 1/4 inches long. He registers on a “normal” baby chart for his height. I mention this because we were told that Alagille patients do not normally register on a “normal” growth chart. Recently, he hasn’t been putting on the weight as quickly as we would like for him to so he is now taking Peptamen Jr. along with his Pregestimil. The Peptamen Jr. has more MCT oil, which his body digests more easily. He is a very happy baby. He is crawling everywhere, loves to pull up to things, and loves table food! We praise God every day that Evan does not itch from the cholestasis like many liver patients do. He still looks yellow, but we know that it will soon fade.

On February 4th Evan had a heart catheterization to check the pressures in all the chambers of his heart. After the heart cath., they decided to schedule his heart repair for April 14th. Having a child go through this medical fright is horrific, but with God on Evan’s side, we know all things are possible. God has a mighty plan for his gift to us, Evan Matthew…Strong Warrior.

Jenna

Jenna

By her mother, Cecilia

Jenna was born in December 1996. Biliary atresia was suspected within one week because of her severe jaundice. She had a Kasai at five weeks, but it was not successful.

When she was five months old, we flew from our home in Tarrytown, NY, to UCSF, in San Francisco, because we wanted Dr. Emond to see her. Once admitted, she developed ascites and was scheduled for a living-related transplant within a couple weeks. They wanted to beef-up her nutrition before the transplant. I began the screening to be her donor.

The day before the transplant Jenna spiked a fever and the transplant had to be postponed until the infection cleared up. She was hanging by a thread, needing the transplant, but besieged with infection. She became very lethargic and her eyes were dull. Needless to say, it was a very tenuous and stressful time.

The transplant, according to Dr. Emond, was particularly difficult. She lost six pints of blood because her ability to clot blood was severely compromised. He told us that perhaps one day he would tell us just how serious it was for Jenna, but not yet. I believe her operation lasted 8 hours and it was Dr. Emond's last transplant at UCSF before he left to start the program at Columbia, where we now go for Jenna's follow-up care.

One week after the transplant, surgeons opened her up as standard procedure for an open biopsy and in the process checked to see if all seemed okay. It is disturbing to know that they don't do open biopsies at all transplant centers but at least all went well.

One week after the open biopsy, they performed a needle biopsy that was a disaster. The needle went through her new liver and punctured a lymph node on the underside of the liver. The internal bleeding was discovered later in the day as her hematocrit dropped and she passed black, blood stained stool. She was rushed in for emergency surgery to cauterize the bleeding. In the middle of the night her hematocrit began dropping again. Again she was rushed in for emergency surgery, this time to stop bleeding of punctured vessels within the liver. So, the needle biopsy had not only pierced the lymph node, it had broken blood vessels on the way through the liver.

After having four operations within three weeks she took a while to recover. But recover she has and we have not had any trouble with her liver since.

A year and a half after her transplant, Jenna had to have surgery to correct urinary reflux. While it was miserable to go back into that "hospital world", which we had so gladly left, this surgery seemed minor compared to what she had been through. She sailed through it and has been perfectly healthy ever since.

Jenna is now three years old and is in nursery school and swimming classes. She is a very active, agile girl who climbs everything she can reach. She is very loving and so independent that she insists on doing everything by herself.

Jordan

Jordan

By his mum, Leisa

Jordan, and his twin Harrison, were born in May 1999. They were brought on at 36 weeks gestation as Jordan was not growing.

Within days of being born Jordan was jaundiced. A couple of days under the lights did not help. Jordan's jaundice continued (wow that's a tongue twister!) and a liver specialist was brought in to look at him. Within weeks we found it could possibly be Alagille syndrome.

Jordan stayed in hospital for 4 weeks until he gained weight, but after being home just 6 days it was discovered he stopped gaining and was readmitted for 12 days. We were taught how to pump feed him and the doctors wanted to monitor his weight gain. During this stay a heart specialist was brought into the equation and it was determined that his heart condition was fairly minor and would need yearly appointments to the hospital.

At three months of age he had a liver biopsy, which came back inconclusive. It did show he didn't have too much scarring on his liver (which was good). He continued with almost monthly appointments at the hospital to keep an eye on him. At about 12 months of age the appointments moved to 3 monthly. He had another liver biopsy at 18 months and again it was inconclusive. Around 1 year we were asked to participate in a research trial for Alagille syndrome and recently we received the results. It was confirmed that Jordan indeed had Alagille syndrome and that his father carries the gene also.

Jordan's development was very slow. His twin Harrison was crawling whilst Jordan would lay there. When Harrison began to stand, Jordan started to roll over. When Harrison first started to walk, Jordan finally started to drag himself around with his arms. Then at about 14 months of age he finally made it to the 3rd percentile for his age. Admittedly it was the lowest part of the scale, but still, he made it. This seemed to be his cue to start everything. Before long he was crawling properly and then was walking at around 20 months of age. He did take much longer than Harrison, but then he was much smaller. Even today Jordan is about 5 centimeters smaller than Harrison and weighs just 12.2 kg (about 28 pounds).

At around 1 year of age Jordan's jaundice began to disappear and for the next two years he was almost pink. Earlier this year though, his bloods started to fluctuate and in recent months his jaundice has returned and the itch worsened to levels higher than ever before. Thankfully with a change of medication his condition is now being managed again. Jordan's Alagille's, thankfully, is quite mild and it appears that medication will be a big part of his life. Hopefully if nothing more happens he won't need a transplant.

Jordan is a bright, happy little boy who adores music and dance unlike his more robust, physically outgoing brother. He also has a terrific attention span and will sit and watch stuff for hours, but then I believe that comes from laying there all those months without the strength to move.

Who knows what the future brings for Jordan but he knows how deeply loved he is and we wouldn't trade the challenges he presents us for anything!

Justine

Justine

Justine is a beautiful, smart 11-year-old with Alagille syndrome. She was diagnosed with Alagille's at the age of 2 weeks after a liver biopsy and exploratory surgery. Doctors told her parents she would have to be watched very closely for the first several years of her life. Over the years she has done very well.

Justine is doing great in school, makes friends easily and is known for her kind heart. On her latest report card her teacher remarked about her positive attitude and that made her family very proud.

Through it all -- the doctor visits and medicines that she takes every day -- Justine has been a real trooper. She is a very special girl.

Kaylee

Kaylee

Kaylee was diagnosed with Alagille syndrome at 4 weeks old.

Our midwife was concerned as Kaylee had lost a lot of weight since birth. We arranged an appointment with her GP. She was also concerned about Kaylee’s consistent vomiting.

Kaylee was sent to the local hospital in South Wales and monitored. When examined doctors picked up on her jaundice and ran some tests. After 2 days with no results Kaylee was sent to Birmingham Children’s Hospital.

In the liver unit in Birmingham, Kaylee had more tests which pointed doctors towards Alagille Syndrome, She had x-rays, scans, an eye test and a liver biopsy before a diagnosis could be made. These showed that Kaylee has most problems related to Alagille syndrome apart from a kidney problem. She also has reflux. Kaylee was sent home finally with a list of medication.

Kaylee is now 8 months old and is catching up really well; she has 2 teeth and can sit up unaided.

Kendall

Kendall

By his parents, natalie and mike

Kendall was born in February 1999. He has 2 older brothers, Tevin and Mikey, who he adores.

Kendall was jaundiced from birth. He was also very, very fussy. His doctors ordered a liver work-up at 10 weeks and he was immediately placed in PICU. He had a liver biopsy and they thought he had biliary atresia. He was 5 minutes away from having a Kasai performed when the surgeon said it was not biliary atresia after all. It took two more months for the doctors to confirm Alagille Syndrome.

On top of all of the complications of his disease, Kendall has asthma and chronic ear infections. His itching was very extreme and he never slept more than 3 hours at a time, night or day. He was miserable. He had been on every medicine known to relieve the itching to no avail. We thought a transplant was the only way to help him, even though his liver was not that bad. Fortunately, Kendall got to be part of a study about Partial Biliary Diversion and Alagille Syndrome. He had the procedure in April 2002.

Since the procedure Kendall acts like a new kid. He is very happy all of the time. He still itches, but it does not control his day anymore. We have issues with the bags and his stool output, but we are glad he had it done. Kendall got a wish from the Indiana Wish Fund to got to Disney World in August. He was so amazed and I was so happy he got a chance to meet his favorite character without scratching.

Mike

Mike

Born with Alagille syndrome, Mike was the only boy in a set of full term triplets. His twin sisters Megan and Margaret were not affected by the rare hereditary liver disorder. The 5-year-old triplets also have an older brother, Matthew, who is eight.

In July 1998, Mike received the gift of a new liver at John Hopkins Medical Center, Maryland. His aunt was being evaluated as a possible living donor when a donated liver became available at the last minute. He has done very well since his transplant and everyone is delighted with the way everything turned out.

Mike loves preschool, alligators, story books and best of all, playing with his brother and sisters.

Tara

Tara

Tara was born with cirrhosis of the liver due to Alagille syndrome. She received a liver transplant in March of 1991, at the age of 13, at Children’s Hospital in Pittsburgh. She is currently attending college, pursuing her childhood dream of a career in nursing. Tara is an honor student, and a 1997 TRIO scholarship recipient.

Congratulations Tara!

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