Horizons Issue 3 2011 - National Gaucher Foundation

In Your Corner
Patient Education Liaisons and Genetic Counselors
By Nick Sambides Jr. and Cheryl Alkon
M
any illnesses carry genetic components that get
passed among families, within marriages, and
down through generations. Gaucher disease type
1 has so many genetic variables that Genzyme Corporation
employs Certified Genetic Counselors and Patient Education
Liaisons – people employed to explain just what those
genetic elements are and who, within the families of disease
sufferers, might have to contend with them.
It’s a job with many challenges and satisfactions, said
Lisa Sniderman King, a senior Patient Education Liaison and
Certified Genetic Counselor at Genzyme.
“Type 1 Gaucher disease is a relentless progressive condition.
Bodies change, especially as people age or grow physically or gain
weight, and you really need to ensure that the dose of medicine
they [patients] are getting is appropriate,” Sniderman King said.
According to Sniderman King, Genetic Counselors and Patient
Education Liaisons don’t make those types of decisions, but will
encourage patients to adhere to their providers’ recommendations.
“What we do is not based on whether the patients get our
treatment,” said Paula Ciampa, a regional manager of Patient
Education Liaisons (PELs). She oversees several geographic
regions in the US. “We do this because we have the knowledge
and we want them to get the best care. This isn’t about ‘you have
to be on Genzyme’s treatment.’ This is about ‘how to make the
best decision about your care.’”
Decisions, Decisions
The decisions that need to be made by patients with Gaucher
disease type 1 depend largely on the individual and are often more
varied than the genetic components themselves, according to
Debbie Sullivan, one of Genzyme’s four Patient Education Liaisons
and Genetic Counselors in the United States.
Sullivan was recently working with the family of a 50-something
patient with Gaucher disease type 1, whose daughter was about
to marry. The family’s questions: Did the daughter have the illness
Would she suffer the chronic fatigue her mother has to battle
Would her children inherit the disorder Would they be carriers
“Our job,” Sniderman King said, “is to help educate families
so they know who is at risk and to understand who could benefit
from testing.”
In the case of the woman and her engaged daughter, Sullivan
said she found that the daughter did not have the illness, but was
a carrier, and that the chances of her children having the disease
were almost nonexistent.
All in the Family
The genetic permutations of the disease can be tricky, Sniderman
King said.
“You could have patients with severe anemia and bone
involvement and patients in the same family that are practically
asymptomatic,” Sniderman King said. “I know of two siblings that
have the same genetic mutations. One was diagnosed as a child
because of her symptoms — enlarged spleen and nosebleeds
— and her older sister is monitored annually because she was
checked and she has remained asymptomatic.”
PELs are committed to helping the entire family deal with
Gaucher. If a child is diagnosed early in life, for example, a PEL
can help parents work with school officials so that their son or
daughter won’t be penalized for frequent absences that might
occur due to receiving treatment.
“If we meet with parents and they say ‘the school doesn’t understand
what is going on, why is the child missing days of school’
the PEL can step in,” said Kathleen Delaney, the associate director
of the PEL group. Sometimes a child with Gaucher might qualify for
particular accommodations that ensure his or her education won’t be
affected by medical care, such as assignments that can be done at
home, if infusion therapy cannot be scheduled after the school day.
A PEL can help navigate the school system so the family isn’t doing
it all alone. The Patient Education Liaisons can say to the parents, “If
you let me do this for you, you can go back to being a parent.”
The PELs also intimately know the medical setting. “We have a
general knowledge of the disease and know how to work through
the whole system of a hospital,” said Delaney, “and can talk to
healthcare providers. It makes a big difference to have those
people on your team. The Patient Education Liaisons have a sensitivity
to the people in the field, and they really get it.”
The PELs are four Genetic Counselors, each representing 150
to 250 active patients in their respective geographic regions, they
typically meet with families individually to explain the genetic
components of the illness. (They also handle three other rare,
unrelated genetic conditions: Fabry disease, Pompe disease, and
Mucopolysaccharidosis, or MPS I.) Sniderman King is based in
Washington State, in Seattle; Sullivan, in New York City.
Their task often involves being among the first to explain what
a Gaucher disease type 1 diagnosis can mean, in very real terms,
to those who have it, and to their families.
“Because the symptoms can vary widely, even among siblings,
there may be other family members who have it and don’t know
it,” Sniderman King said, “so we can help them get care and
facilitate testing if they want.”
Every family reacts differently, Sullivan said.
“Some are very interested in supporting family members
with the disease and what they are going through. Others are
Please see accompanying full Prescribing Information.
Winter 2011/2012 / Horizons 7