This story is shared by a family whose child has BKT.
This is our story, so far. . .
It all began on February 1, 2005 when our third daughter, Olivia Belle Quinlan, was born. She was a perfect 8 lbs. 15 oz. beautiful baby girl. It was such a wonderful delivery and incredibly happy time for my husband Dan and I. Two days after we arrived home from the hospital with Olivia, I received a phone message from a local pediatrician that would change our lives forever. We needed to call his office ASAP regarding the results of Olivia’s newborn screening.
We rushed Olivia to the pediatrician, and were very scared and fearing the worst as the doctor described the disorder Olivia had screened positive for in vague and very frightening terms. He sent us to the local hospital for further diagnostic testing to confirm that results of the initial screen were accurate. All we knew at this point was that Olivia potentially had Beta Ketothiolase deficiency (BKT), but we still didn’t know what that meant. As we went to the hospital, I sobbed like I have never cried before. I could not understand how a perfect little girl who looked and acted so well could have something so seriously wrong with her.
The local hospital sent us to a specialist in Boston at Children’s Hospital to discuss the situation. We would not know the results of the confirmatory testing for 4 or 5 days, which seemed like an eternity. During those days of waiting, we were all very scared. I had never really known the purpose of NBS since there were so many rare disorders listed. I knew almost nothing about the condition, except that it was very rare (only 50 cases identified worldwide at that time). Our pediatrician called us while we were waiting to reassure us that although the disorder is rare, it is well understood and treatable.
When we finally saw the specialist, she explained that Olivia has a ketone utilization disorder also called Beta Ketothiolase deficiency, an enzyme deficiency which inhibits her body from breaking down an amino acid called isoleucine which is found in all food that contains protein. If these foods are not significantly limited, toxic levels of acid from the protein will build up in her blood and she can have severe problems, such as vomiting, diarrhea, trouble breathing, seizures, coma, or worse. Olivia needed to be on a special diet, she couldn’t go too long without eating, and if she got sick, even with a cold, her body could have a reaction as a result of the body fighting off the virus or fever. This was all terribly frightening, but we held onto the words of our specialist when she confirmed Olivia’s disorder, “it’s a relatively benign disorder that is treated mainly with diet and you still have a perfect healthy little girl!”
Although she has been hospitalized with illnesses, with treatment, Olivia has done exceptionally well. We will celebrate her 4th birthday in February and what a celebration it will be! She is thriving like all three year olds should be and hitting and exceeding all of her milestones both physically and developmentally! She makes us laugh so much and smile all day! She is such a gift! She is loved by her sisters, parents, extended family and friends and medical staff who we are so blessed to have. They have truly been there for us every time we have needed them. Without them I don’t know where we would be. She is such a little miracle and a constant reminder of how blessed we are.
It’s amazing how life throws you a curve ball and yet you still find a way to catch it! I have learned more about myself and what life is all about in the past three years of my life than I have in the prior 33 years. I will never take one minute for granted and will always praise the Lord for everything I have. I truly live one day at a time and enjoy life no matter what the day may bring. My family is so amazing to me, my adorable children and my husband who have all been such pillars of strength for me!
I will continue to learn as much as possible about Olivia’s disorder and how it affects her, but I feel empowered by all that I have learned so far. I will continue to ask questions and learn as much as I can, as well as do all that I can to help raise awareness for universal comprehensive NBS and about her disorder. I am sure we have many challenges ahead of us as does everyone in this world, but one thing is for sure, I know now that I can face them and grow from them and having weathered a storm I know brighter days do come! Life is a gift that we have all been given, no matter what the journey may be and Olivia has allowed me to realize and embrace this gift and to appreciate every moment that we have!