Horizons Issue 3 2011 - National Gaucher Foundation

elaborate beyond their question,
because that’s not what they’re
asking.”
While some parents actively decide
to withhold details about genetic
diseases from their unaffected
children, subjects in the UK study
reported that those siblings hungered
for more, rather than less, knowledge.
“Affected and unaffected children
of all ages (8 years upwards)
consistently said they wanted to
receive information about the genetic
condition from a young age,” the
study authors wrote. “Children wanted to be able to discuss
this information within their families throughout childhood.”
Parents and children in the study said that they did not regret
discussing the genetic illness among the family, but for those
families who specifically did not talk about the conditions, the
unaffected children “were more likely to show resentment
or withdraw from the affected child,” wrote study authors.
“Children in families where the condition was discussed more
openly still expressed uncertainties and concerns, but they
also demonstrated understanding for their affected sibling and
a better understanding of their role within their family.”
Frohlich noted that siblings of children with Gaucher
disease type 1 often receive relatively little support outside
of the family, a point also emphasized by the study’s authors.
“Parents need to specifically consider siblings in terms of their
information needs and inclusion in family discussions,” they
wrote. “They need to tell them they are open to discussing
the condition with them, and continue talking to them as they
grow up… Genetic counselors and other health professionals
should support the whole family as a unit, which includes
helping parents to realize the importance of including unaffected
siblings in this coping process.”
Where to Find Support
Frohlich is one of Genzyme’s team of Patient Education
Liaisons, representatives who work together with Gaucher
patients and their healthcare team to ensure the best care and
optimal treatments for those living with Gaucher disease type 1.
This can include finding resources, including support groups or
mental health providers who can offer siblings help and insight.
Elsewhere, the National Gaucher Foundation offers a Mentor
Program that enables people to email or telephone others living
with Gaucher. The group of available mentors includes people
diagnosed with Gaucher, as well as parents of children with
Gaucher, either directly or as parents, to offer advice about
talking to siblings. (See http://www.gaucherdisease.org/mentor_
program.php).
Rosalie Borovetz is a National Gaucher Foundation Mentor
based in Pennsylvania; her daughter Betsy was diagnosed with
Gaucher at age 3 in 1982. The elder Borovetz said that she
was always open with her son,
Michael, who is 2 years older,
about his sister’s condition — just
as she was with her affected
daughter.
“My son was always aware
of his sister’s Gaucher and the
treatment she was receiving,”
she said. “We spoke frankly
with him without alarming him. I
think it is important for siblings to
know and understand when treatment
is planned, and it should be
explained to them in the same
way it would be explained to the patient. Siblings should be
allowed to be present during treatment, and if an in-patient
admission is necessary, they should be allowed to visit the
hospital.”
Like Betsy Simon, Borovetz discussed the importance of
acknowledging the unaffected child’s needs. “It’s important to
include siblings when considering treatment options,” Borovetz
said. “Sometimes the Gaucher child becomes the focus of
attention, and the other siblings get less time and attention
from parents. But they also need quality time and attention.”
Today, Borovetz’s son is in his early 30s and single. As a
Gaucher disease type 1 carrier, he talks to potential mates about
his sister’s condition and would expect his spouse to be tested
before starting a family, she said.
For Betsy Simon, who is an Orthodox Jew, having Gaucher
disease type 1 was not an issue when she met her husband,
though it can be among a community where being a carrier,
or having Gaucher disease type 1 itself, can be seen as a
stigma. Her two daughters, ages 9 and 2, have watched their
mother receive infusion therapy every 2 weeks and for them,
that is normal. Both girls are Gaucher disease type 1 carriers,
which Simon plans to discuss with them. “We plan to talk
to them about what that means, and whether they’d want
to marry another carrier,” she said. Her husband, who does
not have any gene for Gaucher disease type 1, never had
an issue with Simon’s condition, and it is something Simon
hopes her own children will find when they are ready to
consider marriage.
“I am sure when my kids are ready to get married, they may
find that people may reject them because they are Gaucher
carriers,” said Simon. “But the older I get, the more you really
realize that the people who might give you a hard time about
being a Gaucher carrier — there are other reasons to avoid
them. When you find the right match, you’ve found it.”
Reference
1. Plumridge G, Metcalfe A, Coad J, Gill P. Parents’ communication
with siblings of children affected by an inherited genetic condition.
J Genet Counsel. 2011;20:374-383.
Please see accompanying full Prescribing Information.
Winter 2011/2012 / Horizons 17