Sunday, October 5, 2008


*UPDATE* 5/12/2012 Maddi used to have an Abernethy malformation/Portosystemic Shunt (PSS) , a disease that may ultimately lead to liver failure. On October 3rd, 2011 - - all because of one life changing e-mail from Dr. Superina - - Maddi received her life saving surgery. The surgery at Children's Memorial Hospital in Chicago, IL (now called Ann and Robert H. Lurie Children's Hospital of Chicago) CURED Maddi of the "rare" disease and saved her life!

Here is our story:

Maddi was our third pregnancy as of 2003. Our first two babies passed away from miscarriages early in my pregnancies. We never thought we were EVER going to have a baby. It was heartbreaking. I became addicted to reading on the Internet to find an answer. I joined message boards for support and read everything I could find about keeping a full term pregnancy. I was consumed with not being able to "keep being pregnant" and have a baby. I just wanted to have a family and raise children.

Back in 1999, we started with a Reproductive Endocrinologist at Mayo Clinic in Rochester, MN to get some help on staying pregnant. We also had a preconception visit with our Perinatologist at Mayo who diagnosed me with antiphospholipid antibodies.

I was put on baby aspirin. . .in 2003, we got pregnant and stayed pregnant, finally!
Our Perinatologist told us that he could do more to help our baby outside of me instead of inside of me. We agreed that 34 weeks was the right week to meet our baby girl.

At the end of my pregnancy I had bi-weekly ultrasounds to keep a good eye on her. On the day of my ultrasounds I usually couldn't breathe until the nurse found her heart beat on the ultrasound. I was a complete mess, to say the least. But somehow it gave me peace to know twice a week I would hopefully get to hear her heartbeat.

Dr. Ramin, our favorite Perinatologist said I had an abnormal placenta and scheduled an echocardiogram on her heart inside of me to make sure her heart was o.k. It was terrifying. Fortunately, we were blessed. Her heart checked out good on her echo. It was such a relief to finally have GOOD news!

I was put on home bedrest in December and finished my bedrest in the hospital two weeks before I had Maddi in March.

We prayed that my steroid shot would help her lungs develop in time for my c-section. Maddi was taken by c-section at 34 weeks due to IUGR and a two vessel cord. She was only 3 lbs 6 oz when she was born.

She is our miracle baby.

Skip to five years later. . .

Maddi has been followed by genetics at the Mayo Clinic for less than 3rd percentile in weight since birth. Her height is on the growth chart. We have had her tested for everything under the sun for her entire life. She is one brave little pincushion.
* * *
We decided to "take a break" from going to genetics. We had a difficult time with Maddi's tests. They were not able to determine what, if anything, was wrong. Thankfully, on Maddi's five year check up, our pediatrician, Dr. Vicki Jacobsen suggested that we go back to genetics. Something inside of me needed to go back until Maddi's doctors found out more. Anything to figure out why Maddi is so tiny. Deep down I knew I had to go back to genetics and have more tests done on our little girl.

Our Mayo Clinic genetics doctor, Dr. Babovich found Maddi's ammonia level and AST slightly elevated and scheduled appoinments with Mayo Clinic's GI department to have Maddi's liver checked out.

We had two ultrasounds to examine her liver. I was told by the ultrasound radiologist that Maddi had a porto-systemic shunt and that I should call to schedule a CT scan to confirm if she had Abernethy's. I sat and Googled "Porto-systemic shunt" to find out more while in the ultrasound waiting room before I could talk to a doctor. I could only find veterinarian websites about porto-systemic shunts on dogs. . .

The night before her CT scan we spent the night at St. Mary's hospital. Due to Maddi's hypoglycemia, they gave Maddi an IV of D-5 to help her maintain her sugar levels while on her fast for the CT scan scheduled the next morning. We had McDonalds in our hospital room and Maddi thought we were at a hotel on vacation! She loved it at St. Mary's. Everyone went out of their way to be nice to us. Then later that night, right before bedtime it hit her. We weren't at home and she was scared to go to sleep. So we decided to sleep with the lights on. I held her so close that night. I barely slept as I anxiously waited to hear about her CT scan results the following day.

Thursday, September 18th, 2008 at 1:30 changed our lives forever. That is the day we had an appointment with our genetic doctor, a CT scan and a follow up appointment with our GI doctor. From what I previously read on the Internet I truly believed Maddi would be having a liver transplant. . .sooner than later. I was numb and in serious denial. I couldn't believe what was happening. I just couldn't go there in my mind.

At 1:30 the GI doctor met with us. She had a diagram of the liver and told us that Maddi was missing her portal vein. The doctor explained that she couldn't tell us if Maddi had 5 or 10 years to live. . .
My husband and I sat in disbelief, we heard nothing after the words life expectancy. This was the most tragic thing we could have been told about our precious miracle baby. Then the doctor seemed to correct herself and say, "well, I think she will live through her school years". Now looking back I think what she meant to say was that she couldn't tell us if Maddi would live 1 year or 100 years. The doctors just didn't know. Needless to say my husband and I could hardly get up out of bed that next morning. We were in a fog of denial, and completely upset with our new possible life expectancy for our daughter.
My mother-in-law, Peggy gave us encouragement. She told us to go on as normal. "Pop a bowl of popcorn, do the dishes and laundry, and most importantly to have HOPE." Her advice was extremely helpful. So, we got up the next morning and sent Maddi to school. That entire day I felt like I was moving in slow motion. I felt like I was watching myself outside of my body. That day was a foggy blur.

My husband and I returned to Mayo to speak with another doctor from the GI department. Dr. El-Youssef calmed us down and told us that Maddi has Abernethy Malformation, type 1 and that Maddi could live a long, LONG time. The doctors just don't know because Abernethy's is so extremely rare. Possibly at this very moment, there might be people walking around undiagnosed that have Abernethy's because sometimes there are NO symptoms!

We are reaching out for advice and any help we can get to help our little girl. Anyone who has ANY information on Abernethy's, PLEASE, please e-mail us!
If you know someone that can help in ANY way, please forward our blog to them.
We are learning as we go and would LOVE all the help we can get.
~Thank you for your prayers & support~