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rebeccaWritten by Den Mom, Laura

Rebecca’s story begins when she came into this world on December 4th, 2005. Her parents couldn’t believe their eyes. She was a beautiful baby girl weighing in at 6 lbs 10 oz, and 21 inches long. Rebecca’smother Karin had a normal delivery with no complications. She checked to see if her precious baby girl had 10 fingers and 10 toes, and that her Apgar scores come back in the normal range, as all Parents do. They left the hospital after 2 days and brought their baby home to start a new chapter in their lives.

 

rebecca2Rebecca’s parents received “the”phone call alerting them that something came back as abnormal on her expanded newborn screen. MCAD deficiency was mentioned, and they were told they needed to get her to the pediatrician as soon as possible.They went to the pediatrician, not knowing what to expect next.Given the fact that Rebecca’s pediatrician had no experience with MCAD,he told her parents that he had looked it up online and that all they needed to do was to feed her frequently. He directed them to a website for information,and informed them he would be referring Rebecca to a genetic specialist. In addition, another heel prick was done for a second newborn screening.

Karin and her husband looked at the website the pediatrician had suggested,and read things like “brain damage”and “death.” Needless to say,this was devastating for them. Karin collapsed on the floor crying, and her husband tried to console her and told her that everything was going to be alright.Unfortunately their appointment with the genetic specialist wasn’t until one week later which seemed like forever because they wanted answers to their many questions. .

rebecca3In the meantime, Karin knew she still had this precious little girl to take care of, and she nursed her around the clock every 1.5 to 2.5 hours. This,along with all of the emotional stress,took its toll on both Karin and her husband. However, their daughter was thriving, and so they endured.Within a week, the family received word that the second screen did comeback positive for MCAD. They met with a genetic specialist, who took the time to answer all of their questions and provide them with detailed information on what needed to be done to properly care for their daughter.

They were also told that Rebecca’s octanoyl carnitine concentration was 28.6 micromol/L. Though they didn’t full understand what that meant, the specialist told them that the highest she’d ever seen was a 30.0. The word “impressive” was used, and notin a good way. They were also told“when”, not “if,” Rebecca gets a fever or is not eating, to call her right away.That day came on Labor Day in 2006 when Rebecca was 9 months old. caught a virus, had a fever of 104, was vomiting and was unable to keep any food down. She was also shaking uncontrollably (they believe now that this is due to both hypoglycemia and muscle breakdown).

Her parents called the specialist,who called ahead to the ER to let them know they were on their way. Rebecca spent the next 5 days in the hospital on IV D10. She was poked so many times because the IV lines kept blowing, that they ran out of spots on her arms and hands for IV placement sites, and had to place the IV in her feet. Seeing Rebecca in this state was devastating to her parents.They now have come to know what needs to be done in order to keep Rebecca alive and well. The IV is her lifeline when she is not well. Once the fever subsided and Rebecca was able to consistently eat and drink on her own, she was discharged from the hospital.

It helps tremendously for Karin to realize that she’s not alone in this. She often thinks of the other moms with children with these types of disorders and what they are going through.Rebecca had another hospital stay shortly thereafter due to a UTI and,as a result, received a diagnosis of Stage III Vesicoureteral Reflux. She was put on a daily maintenance dose of antibiotics,which she is still currently taking. She is due to see her Urologist this summer and hopefully this condition will have reversed itself. The family is crossing their fingers!If not, then Rebecca will need corrective surgery. Her family will deal with that if and when the time comes.

Rebecca has had a few more hospitalizations since then, all usually resulting in a 2- or 3-day hospital stay. Karin is always prepared to run out the door when Rebecca is ill. She always makes sure to have bags packed and glucose gel on hand in case of hypoglycemia en route to the ER. Karin also has a very thick binder where she keeps all of Rebecca’s medical information,including copies of her emergency protocol letter, to hand out to the ER staff. Rebecca is even flagged on the hospital computer system so she gets ahead of the queue when they arrive.

Through all of this, Karin and her husband have developed an amazing support system, ranging from Rebecca’s pediatrician and genetic/metabolic specialists, to caring friends and family members. It is a great comfort for them to know that these people in their lives ‘get it’ and are right therefor them when needed, no matter what time of day or night. Karin also met some wonderful moms through the Bailey Baio Angel Foundation.

Through the foundation, she continues to form a very close-knit group of friends. Karin loves the opportunity to be able to bounce ideas off other families, and even share some laughs Rebecca is currently 4 years old and a joy. She knows she needs to take her daily dose of Carnitine for her MCAD plus the antibiotics. She knows she needs to ‘not eat too many fats’ and that she has to eat frequent meals. Rebecca absolutely loves all fruits and vegetables. She is not a picky eater, and will try anything once.The family has a ‘house rule’ and that is that if you try it, and you don’t like it, then you don’t have to eat it. This has been working out very well, as mostly everything she tries she likes!

Looking back at the time when Rebecca’s parents first learned of the diagnosis, Karin can’t deny that it was very hard on her and her husband,both emotionally and physically. She wouldn’t want to have to go back and relive it. They felt they were in a state of mourning, not having the‘normal’ child that they had expected.The ‘new mommy excitedness’ was ripped out from under Karin. Those were dark days. But seeing Rebecca now, thriving and meeting all of her milestones, Karin would have to say it was all worth it. She wouldn’t change a thing. They love her just the way she is; she is perfect!