During the many years that I have practiced clinical social work, I worked with the developmentally disabled population. I have helped individuals and family members better cope with the challenges with which they were faced. Helping them accept "why me" and gain an acceptance for these life-long challenges was a large part of what my job entailed. Ironically, I now find myself in a parallel situation. This time, I am not the therapist rather I am the parent.
Having a healthy child after a long endeavor to get pregnant, I was thrilled the second time around to have far less challenges with conceiving. While pregnant with Evan, my second child, it was recommended to me by a family I know to have an expanded newborn screening done simultaneously as the state mandated testing. The test was about $70, so why not have it done? After all, better be safe then sorry. I read the packet, filled out the forms and felt confident that I was doing the right thing. I also felt strongly that I would never be dealing with any of these rare disorders beyond reading about them on these forms.
Evan arrived and all was well, or so we thought. He was six days old when the pediatrician called and instructed us that we had to repeat the newborn screening. We did not even rush back to the hospital to repeat the blood work until the next day when the doctor firmly instructed me to get there ASAP. Five days after that, we found ourselves in a geneticist's office feeling very confused. We were learning that Evan has SCAD, short chain acyl-CoA dehydrogenase deficiency, a rare metabolic disorder for which there was little information and research. Basically, we were told that all we had to do was feed Evan every 12 hours and he would be fine. We have since learned through other doctors and our own research that we needed to feed Evan every four hours around the clock for several months, at which point we would be able to increase slowly the span in which he could sleep at night while maintaining the four hour daytime regimen.
My husband and I found ourselves faced with a disorder that to this day I am not clear how to say it or what it means. I just know that we are so very lucky to have the knowledge that Evan has SCAD. It's been a long 16 months. From waking up every few hours to the other medical issues, I am tired and exhausted. At two and a half weeks, Evan was not nursing so we found ourselves in the emergency room frantic that his sugar levels had dropped. After blood tests, an IV of D10, lots of tears and much anxiety, we were thrilled to learn that Evan's sugar levels were within the normal range. At this time, Evan was put on formula so that we could better monitor his intake and he was prescribed the first of many reflux medications due to continually spitting up since birth. By seven weeks, Evan's spitting up evolved into projectile vomiting and he was diagnosed with Pyloric Stenosis which required immediate surgery for correction. Of all the kids to have a problem with keeping food inside him, why must it be the one child who has to monitor every ounce of intake? At present, Evan has had ten ear infections in the past six months so he underwent surgery to put tubes in his ears yesterday. This common out-patient procedure for most has become, for Evan, an overnight stay at the hospital for preventative reasons. He had an IV of D10 starting the night before so as to ensure that his blood sugar never dropped below the normal range.
We are a very lucky family - we know about Evan's disorder. So for all of our sleepless nights and frustrated days, we are truly thankful for them because we know that life for Evan and us, without the knowledge of SCAD, could be so much worse.
The irony of all of this is that we learned via DNA testing in Denmark that Michael, my husband, has SCAD. For him, he never had an underlying medical issue that went unexplained until now therefore SCAD has minimally changed his life. I, myself am a carrier of SCAD but do not have it. Other family members have undefined versions of SCAD for which there is little to no concern. Alexis, my three-year-old daughter, though a carrier has a rare mutation that places her at risk when sick because her body responds to illness as a person with SCAD's body responds. Little information is known about her mutation so we monitor her when sick and hope that she continues to be as healthy as we believe her to be.
In all the years that I've worked with families confronted with an entirely different problem, I find myself now faced with an enlightened level of support for which I can apply both professionally and personally.
My friends think it's been so tough for us because we are so tired and cannot allow Evan to sleep through the night. I think some of them think of Evan as a "sick" child but what they may not realize is everything we do for Evan is to keep him as he is, a healthy 16-month-old little boy. Our friends also know about the unrelated medical things that Evan has endured. That said, many of our friends do not realize the appreciation we have for our endless fatigue and tireless efforts to always do the best for him. We feel so lucky to have learned of Evan's SCAD so that we can work hard towards having Evan grow-up to be another "normal" little boy.
Westfield, New Jersey
Evan Hammer is a 22-month-old happy, energetic, adventurous, curious and (knock on wood) healthy toddler who happens to have SCAD. It's been a long haul for us but I think he is at a place in life where I can pretty comfortably say that Evan will live a healthy and normal life. And still, the worry never fully fades away, the fear of "what if" still resonates inside of me and the everlasting hope that Evan is the luckiest little boy on earth stays close to my heart.
Over the past six months, when Evan's story was initially posted in this newsletter, Evan has made wonderful developmental strides. The surgery to put tubes in his ears was a success and within days Evan became a walker. In fact, he did not walk, he ran. Speech and his ability to focus have not been as forthcoming and Evan currently receives Early Intervention services with a special educator and speech therapist three hours per week. While his speech is not yet developed, he shows signs of progress as he mimics sounds, makes gestures and says a few words. His ability to focus has extended itself beyond his obsessive love for The Wiggles and he now enjoys reading books, playing with toys, being on a swing set, socializing with his peers and cuddling with his family members.
As Evan approaches the age of two, I see signs of "the terrible two's." Just like other kids, Evan has tantrums and insists on having everything his way. On one hand, I don't want to spoil him by giving in to everything he wants and on the other hand, I am ecstatic to see that Evan is exhibiting "normal" and "age appropriate" behaviors. Disciplining, trying to help him grow up into a well adjusted individual and making sure that Evan's medical needs are always tended to, continue to be my focus. However, the focus has shifted and I am finally at a point where Evan is not often granted special treatment because of his SCAD. Rather, he is usually treated as an equal to his three and a half year old sister, Alexis.
It has been a long 22 months - 22 months filled with sleepless nights, worry, fear, searches for answers and explanations about SCAD, etc. Happily, life is settling down and things are gradually falling into place. As Evan approaches his second birthday in February, we are already planning his summer at camp as well as preschool classes in the fall. Most importantly, we are feeling confident that the days and years in front of Evan will be filled with endless health, love and happiness. We wish you all the same in 2006!
Westfield, New Jersey
December 21, 2005