Rebecca was born on April 2, 2005, but this story begins well before that. The fact that Rebecca was tested and that her MCAD was detected is, to us, truly a miracle. At some point during my wife’s pregnancy, an article in the Wall Street Journal happened to catch my eye. The piece explained that all states test for the three“most common” (e.g., PKU) of the known rare genetic disorders, but only a handful test for the full battery of the 30 or so conditions, and the test to run them all (through Tandem Mass Spectrometry) is simple and very inexpensive.
Having no knowledge of any such disorders on either side of the family, but figuring, “it can’t hurt,” I contacted one of the test providers (Baylor Health Care System Institute of Metabolic Disease) and ordered the $25 test kit. The kit arrived in the mail, and got shuffled in with the baby stuff, almost to be forgotten.
As Rebecca’s birth neared, my wife experienced some complications that caused her to be hospitalized on and off the two weeks prior to delivery. Things got quite hectic during that time, and during one of my trips between the house and the hospital, I remembered the test kit and initially couldn’t find it. Something kept bugging me, though, and I eventually located it and brought it to the hospital. But that was only half the battle. The hospital’s staff and in-house pediatrician refused to draw the blood for the test! In most cases, I think my wife and I would have given up on having this test run, but something compelled us to keep trying.
So, at Rebecca’s first office visit, we asked her pediatrician to run the test, and thankfully, he agreed. We dropped the completed kit in the mail, assuming we would never think about it again. A few days later, my wife received a call from the pediatrician. He said the test came back positive for MCAD.
The FOD Family Support Group was one of the first resources we were referred to, and has been a trusted knowledge-sharing base ever since. After the initial shock and fear wore off and as we became more educated (through the Group and Rebecca’s geneticist), we began to accept and understand MCAD and realized how blessed and lucky we were to have learned about this when we did.
In fact, we believe that the early detection through the supplemental screening may have saved Rebecca’s life. You see, she underwent two surgeries in the first 13 months of her life ~ the first at only two months of age. Local anesthesia was acceptable, but general was preferred – and seriously pushed – by the hospital. But because of our knowledge of the MCAD, my wife and I successfully fought against the use of general anesthesia (which, of course, would have required overnight fasting) for the first surgery. Had we not known about the MCAD (and followed fasting orders), we wonder if Rebecca would have made it through that surgery.
For the second surgery, which required general anesthesia, we worked closely with the surgeon and anesthesiologist, who took all of the necessary precautions (most importantly giving her a D10 IV drip throughout the procedure to maintain her blood sugar). Again, we cannot bear to think of what could have happened had we not been armed with the knowledge of Rebecca’s disorder.
MCAD is a very manageable condition, but clearly, knowledge is key. While Rebecca has been sick a couple of times, we have been able to manage her care at home and have not needed to bring her to the ER. We have taken special care to be prepared and have supplies on hand for trips and vacations. Again, we have been extremely lucky thus far that she has not needed hospitalization – yet. Unfortunately, our guard comes down sometimes since we have been so lucky for so long. But every time she does get sick we immediately remember how important proper preparation is.
In summary, we have truly been blessed with the knowledge of Rebecca’s condition. Thankfully, our state recently passed legislation that now requires the full panel of genetic testing so many lives will be saved in the future. But because this testing was not mandated at the time of our daughter’s birth, we believe that God played a part in the fact that she even got tested in the first place and we are thankful for that every day. We also know that so many other families have not been as lucky, but through their advocacy, they should know that they are saving lives every
2008 Update: We have a new addition to our Family ~ Emily! After waiting almost a MONTH, we FINALLY got the results from Emily’s NBS today and…it is NEGATIVE. We are so relieved and thankful. Of course, Rebecca’s geneticist had us re-test Emily to be sure, and those are negative as well. Rebecca, now 3½ yrs old, is doing great. She is in preschool and is adapting well to being a big sister.
Thanks for thinking of us and for all the support getting us through Rebecca’s diagnosis 3½ years ago.
Dave and Chylynn Bastian