The Road to Understanding

Lauren
Manfuso
June 19, 2012
For patients and families, genetic counselors help navigate the uncharted path through treatment of rare genetic disorders.

Megan MiceliFrom the beginning, Megan Miceli’s parents knew something wasn't right.

Megan wasn't Amie Miceli's first child. She knew there were certain milestones every newborn should reach and that every parent looks forward to. But Megan was floppy -- literally floppy, Amie says. She wouldn't lift her arms or head. She didn't cry. She barely ate. She wasn't growing. And what scared Amie most was that no one could tell her why.

At every check-up, Megan's pediatrician insisted she was just a little behind and that she'd catch up. But months passed without improvement. "At five months I took her in again, and they actually wanted me to wait longer," Amie recalls. "But I told them I didn’t want to wait. Something just wasn't right, and I was scared because she wasn’t developing."

Around the same time, Amie spoke with a friend whose child was diagnosed with autism. That friend recommended Kennedy Krieger. And so, still uncertain of what the problem was -- but determined to do something -- Amie and her husband Nick brought Megan for physical therapy at Kennedy Krieger, where she was evaluated and diagnosed with hypotonia, or decreased muscle tone. But that was just a symptom of her overall condition, which was still undetermined. A month later they met with Dr. Alec Hoon, who recommended that the family meet pediatric neurologist Dr. Ali Fatemi for an evaluation.

Dr. Hoon also directed them to the Institute's genetic counseling office -- often the first stop for parents of children who either are suspected of having or have recently been diagnosed with a genetic disorder. While many hospitals offer genetic counseling, at Kennedy Krieger the physicians are well-versed in rare conditions and genetic anomalies, and the post-diagnostic services families often need can all be found under one roof. "I think we do have a knowledge of certain conditions here that gives us a leg up on other centers, with the emphasis being neurogenetics," says genetic counselor Rebecca McClellan. "We also have solid knowledge of developmental pediatrics."

The breadth of services offered by the Institute's four genetic counselors varies, depending on need. For families of children with more common diagnoses, genetic counseling may simply offer a better understanding of their child's condition and perhaps some information about educational and community resources. But then there are the more complicated cases, like Megan.

For the Miceli family, meeting with McClellan was the beginning of a 15-month journey to find out what was wrong with their daughter and how they could help her.

Calling Doctor Google

From the moment their child is diagnosed with a developmental disorder, most parents' first inclination is to learn everything about it. And of course, the fastest and most accessible way to do so is on the Internet. "I call it Dr. Google," says Kennedy Krieger genetic counselor Julie Cohen. But Dr. Google can be somewhat ominous and potentially misleading, and parents often walk away from their computer with even more anxiety and fear.

Megan with Genetic CounselorsIn Megan's case, her parents could have spent infinite hours online and found nothing. Instead, a battery of genetic tests ordered by Dr. Fatemi -- everything from MRIs and EKGs, to ultrasounds of every vital organ -- eventually revealed that she had something called gene microdeletion syndrome. In layman's terms, it means she lacks certain bits of genetic material that are crucial to development. Occurring in about one out of 50,000 births, the condition is somewhat unusual on its own. But it also takes many forms, and Megan's condition seems to be among the rarest of the rare -- there are, perhaps, only six other known cases in the world. As such, her physicians have little means of predicting what her future holds, and there is little information -- online or otherwise -- about the disorder.

Such uncertainty can be overwhelming for families, especially when coupled with the day-to-day rigors of raising a child with such complex needs and issues, says Cohen. Add to that the vast and often frightening array of information available online, and you have the recipe for some very scared and anxious parents.

Enter the Genetic Counselor

"There are different ways that genetic counselors become involved in each patient's care," explains Cohen, who recently took over as the Micelis' genetic counselor. "Sometimes it's right from the get-go, when they're referred here because of concerns about developmental delay. They realize right away that it could be genetic and want us involved from the beginning. Other times we become involved after a diagnosis is reached."

No matter what the circumstances, every family's experience can be equal parts unique and similar. Each family has questions and may be plagued by uncertainty. Typically, other family members need to be tested to determine whether future children or family members are at risk. And then there's the complicated process of coordinating care and interpreting the sea of confusing information constantly thrown at parents. All are aspects in which genetic counselors can play a vital role, not only in patient care, but also by providing peace of mind as parents battle against the unknown.

"Genetic counselors are uniquely trained to explain complex scientific information in a meaningful way," Cohen says. "Our role is complementary to physicians. A physician may not always have the time to spend an hour explaining a child's chromosome condition. But as genetic counselors, we have that time set aside, and it's part of our training, and it's what we're here for."

Now What? Preparing for the Unexpected

Of course, the rarer and lesser-known the condition, the more extensive the explanation. At such times, Cohen says, it becomes important for the genetic counselor to do his or her homework, and for the family to be forthcoming about any worrisome information they unearth during the inevitable Google search.

"With a rare or unknown genetic condition often comes the feeling of being alone, as if they're the only person on the planet who has a child with this condition," Cohen says. It's not always far from the truth. "From a provider point of view, we know lots and lots of information about Down syndrome and what it means for the child. For these rarer conditions we don't."

Such was the case for the Miceli family, for whom finally finding a diagnosis only raised more questions. "We were excited they finally found it, but there was that fear, now what happens? Is this life threatening?" Amie Miceli recalls. "We didn’t know what to expect."

What they did know is that the diagnosis was just that -- a diagnosis, not a cure. New symptoms and challenges may crop up as she ages -- issues that no one can predict and that will require treatment on a case-by-case basis. But, armed with a little more knowledge, the Micelis feel better prepared to face the unexpected and a future that will most likely hold even more doctors' visits, as well as lots of therapy. Fortunately, all of these services are available right at the Institute, under the same umbrella as Megan's physician and genetic counselor.

Megan with Toys"It can be really hard trying to figure everything out and do the right thing for Megan so she can benefit in every way possible. But whenever we leave there, we understand everything," Amie says. "It's not just a bunch of confusing medical terms. Julie really breaks it down for us and that's really helped."