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American Liver Foundation
6737 W Washington St., Suite 2253
West Allis, WI 53214
American Liver Foundation
39 Broadway, Suite 2700
New York, NY 10006
>Mia >Photos taken by: Picturesque Photography by Megan Moran
Published: June 2nd, 2008
I always relate our liver disease experience as a journey. We began our journey with our oldest son Hunter. On November 24, 2002, Hunter came into this world with some breathing problems but a little oxygen kick and within a day he was just fine. However, on the day we were to go home Hunter became jaundice and that changed everything. What we thought would be a few days in the hospital on the bili-blanket turned out to be a week long stay and countless blood tests turning his heels purple with bruises. His numerous daily bilirubin results were higher than the average jaundice newborn. So, doctors assumed more was going on with his liver. They took a list of possible liver diseases and crossed them off one by one. We spent days & nights there and even had Thanksgiving dinner and bottle feedings with him. Crying every time we left we wondered when they would know what was going on with Hunter.
The doctors sent us to the Genetics Clinic and Gastroenterology Clinic at Children’s Hospital and it confirmed their preliminary diagnosis. On December 30, 2002 at 5 weeks old, Hunter was diagnosed with Alpha-1 Anti-Trypsin Deficiency (A1AD). A1AD is a rare, genetic disease that may result in serious lung disease (emphysema) in adults and/or liver disease (non-alcoholic cirrhosis) in infants, children or adults and in extreme rare cases panniculitis, a skin form of Alpha-1. We worried what was in store for us- special diets, disabilities and God forbid would he live?
Hunter has been closely monitored by his GI Specialist and pediatrician, who are the two most wonderful people in our lives! Initially, he was seen about every 3 months for labs and observation. Hunter always puzzled the docs because he appeared so healthy, but his liver said the exact opposite? We were scared because there is no cure for liver-affected Alpha-1, only a liver transplant. At 18 months old they decided to do a liver biopsy, which revealed Hunter only had mild scarring of the liver! However, despite the mildness of his liver scarring for the next 18 months his liver labs continued to climb and the next discussion was a transplant. At 3 the results were amazing. His liver had finally calmed down! Hunter’s liver had finally stabilized to almost normal! His GI Specialist refers to Hunter’s Alpha-1 as a “ghost”- genetically he is an Alpha however at the present he has no signs or symptoms of Alpha-1!
We continued our Alpha-1 journey with our youngest daughter, Mia. At birth, on October 30, 2007 she was pink as a rose! However, within a week of life Mia quickly turned to that unforgettable lemon color. Mia had been tested but we hadn’t received her Alpha results yet and we worried! On November 14, 2007, at 2 weeks old we were told she also had A1AD. Unfortunately though, Mia also seemed to have additional problems with her bile ducts and gallbladder. At first they suspected Biliary Atresia (BA) but after a die-injected scan they ruled that out; thank God because BA and A1AD do not go well together at all! They continued numerous tests and finally decided on a liver biopsy and cholangiogram (flush gallbladder with a dye). Unlike Hunter, Mia’s liver biopsy revealed moderate scarring however her gallbladder and bile duct issues had resolved on their own as she grew and developed.
Mia continues to be observed and have labs drawn about every 1½ to 2 months. Her cholestasis/liver disease continues to be moderate due to her lack of weight gain and growth. She eats great but has a metabolism through the roof- all the extra supplement calories don’t seem to help her at all. At 7 months old she still wears newborn diapers and 0-3M clothing. We get daily compliments about how cute our “newborn” is. It looks a little silly when Mia crawls- this tiny little baby going from one side of the room to the other!
Both Hunter and Mia alike are on 2 prescription vitamins ADEKs & Mephyton (vitamins A,D,E, K & K) for maintenance & blood clotting. Having liver-affected Alpha also does not allow them to absorb fatty-soluble vitamins and it also affected Hunter with a slight blood-clotting disorder.
Amongst our 2 Alphas, Hunter age 5 and Mia 7 months we also have a 10 year old daughter Lexus, 4 year old son Devon and 2 year old daughter Taylor. Our 3 other children are all carriers of Alpha-1, like mom and dad.
Throughout these past 5+ years, we’ve traveled many steps in our Alpha-1 journey- understanding Alpha-1, its’ signs and symptoms, treatments, research and living with Alpha-1. We’ve been highly involved throughout the Alpha-1 community- a local Alpha-1 Support Group, the general public and many Alphas worldwide even know Hunter & Mia! Hunter has preached to everyone since he could talk about his “Lucky Liver” and that he cannot drink or smoke. It brought tears to our eyes when we told Hunter that Mia was also an Alpha- he was so excited. We of course weren’t but he immediately bent down by her and told her that she has a Lucky Liver now and that he was going to teach her all about Alpha. You hate to see your children have a disease or illness however the love and support Hunter has for Mia is just amazing.
Each child has sent us on a different journey. Meeting so many people over the years because of having children affected with A1AD has been an unfortunate blessing- we now pass on the support we received when we needed a shoulder to lean on.
Written by: Jaime Freitag
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