You will meet Teresa and Randy at HOPE AT HOME 2011, September 23-24. They will be speaking more about adoption and parenting the special needs child. Find out more and register HERE.
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| I knew he was "Our Son." |
I knew in my heart he was OUR SON
In 2007, with four children already in our family and a firm prompting from the Lord to adopt again, I began contacting adoption agencies regarding both domestic and international adoption. I had done a little research on adopting from Taiwan, but the adoption programs I found did not appear to be a good fit for us. One morning I awoke with a distinct impression to “revisit Taiwan”. I went to my computer and instead of “adoption” this time I entered “Taiwan orphanage”. The search brought up a specific orphanage in Taiwan and a list of their waiting children, all of whom had some form of special needs. I looked at the pictures and one baby boy immediately captured my attention. I knew in my heart that he was “our son”. When my husband came home for dinner that night I had this baby’s photo sitting on his dinner plate. My husband said, “What’s this?” I said, “That’s our new son, and by the way, what is Fabry disease?” In that moment, our family entered the world of special needs adoption.
In 2007, with four children already in our family and a firm prompting from the Lord to adopt again, I began contacting adoption agencies regarding both domestic and international adoption. I had done a little research on adopting from Taiwan, but the adoption programs I found did not appear to be a good fit for us. One morning I awoke with a distinct impression to “revisit Taiwan”. I went to my computer and instead of “adoption” this time I entered “Taiwan orphanage”. The search brought up a specific orphanage in Taiwan and a list of their waiting children, all of whom had some form of special needs. I looked at the pictures and one baby boy immediately captured my attention. I knew in my heart that he was “our son”. When my husband came home for dinner that night I had this baby’s photo sitting on his dinner plate. My husband said, “What’s this?” I said, “That’s our new son, and by the way, what is Fabry disease?” In that moment, our family entered the world of special needs adoption.
Fabry Disease is life
altering and life threatening
Our son, Jeremiah, was born in Taiwan in August of 2006, four months after the country began a pilot newborn screening program for Fabry disease, an extremely rare genetic disorder. We just found out this summer that of 110,000 newborns tested in Taiwan, only 45 babies had tested positive for Fabry. In medical terms, Fabry disease is a lysosomal storage disorder. In layman’s terms it is like dealing with cholesterol on steroids. We have all heard of cholesterol and most of us know that cholesterol is a lipid. The stickiest lipid we have in our blood is a substance known as GL3. Normally, we have a naturally occurring enzyme in our blood that breaks down GL3 and keeps it from accumulating in our bloodstream and organs. Those with Fabry disease are missing this enzyme, and therefore GL3 begins to accumulate in the brain, kidneys, heart, lungs, and other organs. Fabry disease affects essentially every system and organ of the body in ways that researchers are still trying to understand. Fabry Disease is a life-altering and eventually life-threatening disease. It is not uncommon for men to die from complications of Fabry as early as the 30s or 40s.
Yes, we could....
Randy and I immediately began researching Fabry disease as soon as we became aware of Jeremiah waiting in Taiwan. As we made contacts with those in the Fabry community, we quickly realized that a Center of Excellence for the treatment of this disease was located about 40 miles from our house at the Genetics Department of Emory University. We made an appointment for a consultation before submitting our final adoption paperwork to Taiwan. Our first question to the staff was, “We know we can’t cure this, but can we medically manage it?” We were assured that, yes, we could. With that word, the decision was final that Jeremiah was meant to be ours.
We have to step out in faith
Since Jeremiah’s arrival home in January 2008 we have taken a very aggressive approach to his treatment. Our goal is to increase the quality and longevity of Jeremiah’s life. The treatment for Fabry disease involves intravenous administration of a drug that acts as an artificial enzyme. This is commonly referred to as enzyme replacement therapy or ERT. In February of 2009, we had a portacath inserted into Jeremiah’s chest. Just a few weeks later, Jeremiah had his first infusion of Fabrazyme®, the only drug available in the United States for treatment of Fabry disease. With this dose, Jeremiah became the youngest known child in the world to be treated with Fabrazyme® and to begin regularly scheduled enzyme replacement therapy for Fabry. With each decision regarding Jeremiah’s care we have had to step out in faith that we are doing more good than harm. There is very little information and research on the effects of ERT on a child so young. We feel like a guinea pig in many ways, but we know the impact of not treating Fabry until after damage has occurred to a patient’s major organs and are determined to take advantage of every medical option that is available to Jeremiah.  |
| Noah hugs his new brother. |
An unexpected bump
We hit an unexpected bump in the road in Jeremiah’s care when major manufacturing issues disrupted the supply of the drug needed for his treatments. The manufacturing problems resulted in a worldwide shortage of the drug meaning that Jeremiah’s treatments became sporadic and the dosing became inconsistent. While he was supposed to receive an infusion every two weeks, we once had to go as long as two months between treatments. Sometimes we would get a full dose, other times a half-dose and occasionally even a one-third dose. We began to see the impact on Jeremiah’s health, particularly in terms of his fatigue and stamina. It was frustrating for us because part of the point of starting Jeremiah’s treatments so early was for the medical community to be able to measure the impact of early treatment and intervention on the progression of the disease.
In early 2011 we got some wonderful news. Jeremiah’s doctors received permission from the Food and Drug Administration to provide him with a new medicine under an emergency access protocol. The new medicine has been used in Europe but does not have FDA approval for use here in the United States. At the time Jeremiah began his infusions he was only the 38th child in the world under the age of 18 to be treated with this drug. As I was signing the releases and authorizations for Jeremiah to be treated with this medicine, it was intimidating and a little scary to think that every child in the world who has received this medicine could fit in one U.S. classroom. The “chain of custody” controls that are in place each time Jeremiah receives a treatment are about the equivalent of transferring gold out of Fort Knox.
It's just what we do
We are so encouraged by how Jeremiah has responded to the new medicine. Most days, he has the stamina and energy of a normal four year old boy. Because of this we are hopeful that he will be able to attend regular school. Our biggest concern recently has been monitoring his exposure to the Georgia summer heat, as Fabry patients have a very low tolerance for hot weather. Most Fabry patients will lose their ability to sweat, making them very susceptible to heat exhaustion and heat stroke. We drive the 40 or so miles to Emory University for treatments every other Tuesday and we are happy to do it. Traveling that distance can take up to two hours in Atlanta traffic, but we feel blessed that such an excellent, experienced medical facility is nearby. Jeremiah’s treatment schedule is an adjustment to our family routine and requires a commitment on our part, but we don’t in any way see it as a burden. It’s just what we do. Jeremiah is an “old pro” at this point when it comes to actually getting his infusions. He has been flushing his own port since he was two years old. He is very attached to his infusion nurse, Trudi, whose consistent care has given Jeremiah a feeling of trust and security. We consume the latest information regarding Fabry from various medical journals and attend as many patient education programs as we can. I enjoy picking the brains of other, older Fabry patients who have several years experience fighting this disease. The insights they share into their own childhood experiences with Fabry have been invaluable to me as a parent.
We've extended the discount registration fee through September 16. Register now for HOPE AT HOME 2011!
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