Today, Michaela Farej, is a happy and healthy 4 ½ year-old girl residing with her mom, Maria Lopez, in suburban Illinois. However, one morning, when she was just a ten-month-old baby, Michaela (who has CdLS) gave her mom quite a scare.
Maria remembers having a bad feeling that day — her daughter just seemed "off." Earlier in the month, Maria had taken her infant daughter to the doctor several times for circumoral cyanosis (a bluish skin tint around the mouth, typically from a lack of oxygen), and had just hung up with her physician insisting her daughter be seen that day. It was then Maria noticed Michaela had gone limp and her face had turned blue.
Maria propped Michaela upright and called her name, but Michaela's chest was not moving. Maria responded, first, by checking to make sure her daughter's airway was not blocked, and, then, by performing rescue breathing.
Panicked, Maria called her mother, Connie, who directed her to call 911. While waiting, she continued rescue breathing and suctioned the mucus from her daughter's airway. She, also, had the presence of mind to check her pediatric C.P.R. book to make sure she was doing everything correctly.
Despite her medical background and familiarity with epilepsy, Maria never realized what was actually happening — Michaela was having a seizure.
Since that first episode, Michaela has been diagnosed with epilepsy, specifically Mixed Seizure Disorder. Every four to six weeks, she may have one 30 to 90 second seizure. Many of us may have seen an actor on television, perhaps in a medical drama, quite realistically portray a seizure. But nothing can prepare us for witnessing a loved one going through such an episode. A parent's response involves many emotional elements, mostly fear and overwhelming concern.
The first time Connie saw her granddaughter fall into a seizure, her initial thought was Michaela might die. As time passed, both Connie and her daughter began to feel more comfortable helping Michaela through her seizures, but their fears and concerns remained. Medical professionals would often respond to their emotional reaction by telling them to "calm down and not worry so much." In those instances, they wish the doctors had been more sensitive to and respectful of their motherly and grandmotherly instincts.
Maria and Connie take time to educate other family members about what to expect and how they can be helpful when someone is having a seizure. A couple of helpful tips are to keep time of the seizures with a second hand watch and maintain a journal of the date, time, duration and signs of the seizures. This information has proved invaluable to Michaela's doctors.
When speaking with physicians in an emergency room situation, Maria insists, "Speak loudly and clearly, repeating yourself if necessary. Expect the doctors to be less than interested in what your instincts tell you but do demand they at least acknowledge that they heard you."
"Realize and be honored that your voice is not your own but that of your child. I have often reminded parents, ‘If you do not speak up for your children, who will?' Never be afraid to ask questions about testing, procedures, and medications."
Although Maria never hesitated to question the various doctors she had encountered, she feels it would have been helpful to have someone there to tell her it was "okay and that you are not a horrible person for doing it."
As many other parents have reported, it can be difficult to find the correct dosage or combination of medications to treat the seizures. It was not any different for Michaela. After repeated hospital admissions, and Maria's repeated questioning of side effects and new drug trials, Michaela's seizures are effectively under control. In addition to medication, Maria stresses a very strict sleep schedule is imperative for her daughter, as variations have led to seizures.
"While everyone's experiences with seizures is different," Maria poignantly concluded, "I wished other parents would have told me, when Michaela was sick from the medications and bruised by the I.V.s, that it was okay for me to be scared, tired and angry."
Thank you to the Lopez family for being open and willing to share their experiences. Both Maria and Connie were eager to be as much help to families as they could possibly be. The limited space of an article cannot impart the full extent of their invaluable information!
Help us further our understanding of your family's experiences with CdLS and seizures by contacting Lynn Audette or Mindy Webb.