Mom Creates “Remarkably Rare” Apparel for Daughter with Alagille Syndrome

September 6, 2014

Our daughter Emmery was born in April of 2013. At birth she was seemingly born happy and healthy with just a slight increase in her billirubin levels. At the age of 6 weeks we noticed she was still very jaundiced and took her into the doctor to have her bilrubin levels checked again. Once we received the results we were immediately sent to the local children’s hospital, Dornbechers Childrens Hospital to meet a GI specialist. We spent the next three days at the hospital while Emmery received x-rays, ultrasounds, blood work and a echocardiogram. They believed she either had a block in her bile duct or that she had a rare disorder called Alagille Syndrome. A genetic test confirmed Alagille Syndrome.

SAMSUNG CSCEmmery currently sees a GI Specialist for her liver, a Cardiologist for her heart and a Nephrologist for her kidneys. Emmery’s most difficult symptom is her itching due to the irritation of her liver. The reason her bilirubin levels were high is because her liver bile ducts are few and malformed. Basically her bile can’t pass through her liver properly and builds up causing irritation to the liver. The side effect to this build up is an internal itch. They do not currently know exactly how the itch results. It is related to the bile acid salts that build in the blood causing a incurable itch. She takes multiple medications to help relieve this but nothing completely takes the itch away. We keep her covered the best we can to prevent her from itching her skin too much or too deep. Sleeping has always been a struggle. For some reason the itch is heightened in the evening and at night causing a very sleep deprived family. Emmery also under went a catheterization of her heart as well as the ballooning of her Pulmonary Artery. We will continue to evaluate her heart and she will have many echocardiograms in her future to ensure the Pulmonary Stenosis doesn’t progress further. Overall, Emmery is doing very well for having Alagille Syndrome. Due to the fact that her bile cannot pass through her liver properly she has a difficult time growing and gaining weight. People who have Alagille Syndrome are typically short in stature and can’t absorb the fatty acids and vitamins necessary to grow. She takes many multivitamins and a MCT oil to help supplement this. Her outlook for the future is very uncertain due to the fact that those that have Alagille’s range in such severity that it is difficult to know how life will look like for her in the future. Some with Alagille’s need a liver transplant and some don’t. Only time will tell.

Through this journey I now have a desire to provide encouraging and empowering words to those affected by a rare diseases or genetic disorder. Out of this desire for my daughter to know just how amazing and capable she is, I have created a website and line of apparel called Remarkably Rare. . Our goal is to provide a way to spread awareness about her rare disorder through our site and apparel. We have just launched and have dreams of Remarkably Rare being a place of encouragement and support for the kids and parents effected. We would like to be a place to offer fundraisers to directly assist families medical costs as well.

Thank you for allowing us to share our story.


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