The overwhelming
challenges of Huntington’s disease frequently provoke serious conflict – even splits – within families.
The genetic nature of
HD, the accompanying stigma, the devastating symptoms, and the heavy caregiving
burden often produce emotionally draining conflicts. Then the lack of
solidarity impedes the quest for improved care and treatments.
On April 24, during a
recent visit to Brazil, I met the extraordinarily united Miranda family. The
Mirandas’ example provides HD families (and other disease communities) with an
alternative to hostility: when adversity hit, they pulled together.
At the invitation of
their matriarch, EdÃlia Ferreira Miranda Aded Paz, I met more than a dozen members of the
extended family at EdÃlia’s spacious home in a prosperous neighborhood on the
outskirts of BrasÃlia, the capital.
EdÃlia’s father,
Marcondes Miranda, died of HD in 1974 at 62. Marcondes left an enormous number
of offspring affected by or at risk for the disease. He and his late wife had
14 children, eight of whom inherited the HD genetic defect. Today there are 50
Miranda grandchildren, plus also great-grandchildren and
great-great-grandchildren. Some descendants have died from HD, others currently
suffer from the disease, and many young ones likely carry the defect.
EdÃlia, who tested
negative for HD, took the family’s lead on HD in the mid-1990s. At 65, she is the
vice president of the União dos Parentes e Amigos dos Doentes de Huntington (UPADH, Association of
Relatives and Friends of Huntington’s Patients), based in BrasÃlia, and she
sits on the board of Brazil’s other HD organization, the Associação Brasil Huntington (ABH),
headquartered in São Paulo.
“What’s interesting
about my family is that it united us,” EdÃlia, a retired public servant,
said of Huntington’s. “From the moment we learned that a very large number of
people had the gene, we came together.”
We spoke in
Portuguese during the family meeting, which I recorded so others could listen
later. EdÃlia and I had met briefly at the World Congress on Huntington’s
Disease in Rio de Janeiro in 2013, and she follows this blog. I had long wanted
to meet with UPADH members.
“I do everything
possible and impossible to keep the family united,” EdÃlia continued.
“Because in my mind, if things are already bad enough with all these people
affected, it’s even worse if we’re alone.
“I don’t have the disease, but I never
celebrated that fact. Two other sisters who tested negative and I used to say:
what’s worse – having a
disease yourself or seeing siblings die from that disease and knowing that
nieces and nephews have the disease? But I took on this mission. I don’t do it
to show off. I do it because it makes me feel good. I don’t have the disease,
but I can help.”
EdÃlia at her home in BrasÃlia, April 24, 2016 (photo by Gene Veritas)
Unconditional love
for the stricken
The meeting at
EdÃlia’s home was the largest family gathering I have encountered in nearly two
decades of HD advocacy. After warm introductions, we sat in a circle in the
living room. With EdÃlia’s prompt,
I began the meeting. I explained that my mother died of HD and that I carried
the HD gene.
For the next two
hours, as we shared our stories, I witnessed the deep pain that HD has wrought
on the Miranda family and their courage to fight back.
EdÃlia’s sister-in-law
Izaura Maria Soares Miranda lost her husband, Genésio Miranda, to HD. They had
three sons and a daughter. All three sons developed HD. The oldest, Marcus
VinÃcius, died nine months ago, at 46.
“The disease started
in him at age 32,” Izaura said, still deeply stricken with grief. “I took care
of my son for eleven years. I saw him die little by little. I didn’t want him
to die. I’m still mourning him. A piece of me is missing.
“No mother deserves
to go through that, to lose a son. I know he’s now at rest. He suffered a lot.
But that doesn’t diminish the pain.”
Seeing her other sons
devastated by HD has multiplied her suffering, said Izaura, 65, an attorney who
has testified about HD in the Brazilian Congress.
“In the next incarnation I don’t want children,” she insists. “I don’t want to suffer. I love my children unconditionally. I raised them alone and continue to care for them alone. So I’d kill or die for them. In the next incarnation I don’t want to suffer.”
“In the next incarnation I don’t want children,” she insists. “I don’t want to suffer. I love my children unconditionally. I raised them alone and continue to care for them alone. So I’d kill or die for them. In the next incarnation I don’t want to suffer.”
EdÃlia's nephew Félix (left), friend Estela, sister-in-law Izaura, and niece Samantha (photo by Gene Veritas)
The other relatives
present revealed many other difficult HD challenges: caring for parents and
children stricken with the disease, pondering genetic testing, and pooling
resources to aid affected relatives unable to earn a living, including one
symptomatic woman with young children.
In the words of one
niece, EdÃlia has “mobilized the entire family” to assist relatives in dire
need because of HD.
In another example of
unity, EdÃlia noted the regular collaboration between the UPADH and ABH. The
two organizations emerged independently of each other based on the needs of the
families they serve in their particular regions of Brazil.
The Mirandas make
history
According to EdÃlia
and a 2009 news article on the family, in 1995 the Mirandas
became the first Brazilian family to undergo genetic testing for Huntington’s
disease. Scientists identified the disease-causing gene in 1993, making such a test
possible.
Advised by a
neurologist in BrasÃlia, the extended family pooled its resources and paid about
$80,000 for the tests, done in a lab in another city. The family elected EdÃlia
to receive the results for the entire family.
Very quickly, most of the family regretted the decision
to get tested: HD was untreatable, so what good did it do to know? EdÃlia knew
she had tested negative, but at the time nobody else in the family wanted to
learn the results. So EdÃlia didn’t share the documents with anybody.
Worse, at the time Brazil lacked protocols for genetic testing.
Such protocols include a waiting period before collecting the DNA sample, as
well as genetic and psychological counseling.
The BrasÃlia
neurologist simply handed over the test results with no additional information,
EdÃlia recalled.
“As a consequence of
that, big changes were made in way test results had to be delivered,” EdÃlia
said.
In 2008, EdÃlia
removed the genetic test documents from the safe in her house and burned the
results of those who had tested positive for HD but didn’t want to know their
status. EdÃlia had memorized the results; at the April meeting, she discussed
some of them openly.
“Yes, I burned them,
because looking at them brought great suffering,” EdÃlia wrote after our
encounter in BrasÃlia. Without psychological support for the family or the hope
of treatments, “I felt at rock bottom,” she recalled.
Anxious to end the ‘nightmare’
Today EdÃlia and her
family have greater hope.
At the meeting on
April 24, the Mirandas eagerly awaited news on the latest HD clinical trials.
They were excited to meet an advocate from the United States, where the HD
cause is relatively strong and many companies and universities have labs focused
on finding treatments.
The Mirandas especially
wanted to know about the Ionis Pharmaceuticals Phase I HD gene-silencing
clinical trial currently in progress in England, Germany, and Canada. I
reported that the first group of gene-silencing volunteers had safely completed
their portion of the trial, and that the chief HD drug
hunter has expressed confidence that effective HD treatments will eventually
appear (click here to read more on these developments).
The family hopes
anxiously for a cure to be freed of the “nightmare” of HD, said Jucilene, a niece who struggled terribly with
fear before testing negative in 1995.
Noting that I had
avoided symptoms into my 57th year, the Mirandas also wanted to discuss my
personal strategies for avoiding the inevitable onset. We covered the gamut,
from supplements to psychotherapy, exercise to healthy eating.
Gene Veritas (seated, center) with members of the Miranda family (personal photo)
I promised further
news from two key, Portuguese-speaking members of the effort to develop HD
treatments: Celina Zerbinatti, Ph.D., vice president for biology at Evotec, a Germany-based drug discovery company partnering
with CHDI Foundation, Inc., the nonprofit virtual HD biotech, and
Cristina Sampaio, M.D., Ph.D., CHDI’s chief clinical officer and one of the
individuals responsible for Enroll-HD, the CHDI-sponsored global patient
registry and clinical trial platform.
“You are in good
hands!” Dr. Zerbinatti said in an interview aimed at the Brazilian HD community
in which she outlined the efforts of CHDI and Evotec.
In another interview,
Dr. Sampaio explained the importance of Enroll-HD for Brazil and urged
Brazilian advocates to keep pushing for the adoption of the program in their
country.
I conducted both
interviews at the annual CHDI conference in February. You can watch them in the
videos below.
'Vocês estão em boas mãos!' A Dra. Celina Zerbinatti fala para a comunidade de Huntington no Brasil from Gene Veritas on Vimeo.
Enroll-HD rejected in
Brazil
With large HD
families such as the Mirandas, Brazil and other Latin American countries could
play a pivotal role in defeating HD by providing badly needed volunteers for
crucial research studies and clinical trials. The world’s sixth largest nation,
Brazil has an estimated 20,000 HD-affected individuals.
However, Enroll-HD
currently functions in only two countries in the region, Argentina and Chile.
In October 2015, CONEP, Brazil’s
National Research Ethics Commission, rejected CHDI’s proposal to set up
Enroll-HD there.
“It never occurred to
us that Enroll wouldn’t come to Brazil,” EdÃlia said. “Enroll is very important
for us.”
Reconciling different
standards
Advocates aim to
reverse the commission’s decision.
On March 28, EdÃlia,
ABH President Vita Aguiar, three former ABH presidents, and other advocates met
in São Paulo with the CONEP coordinator, Dr. Jorge Venâncio.
EdÃlia’s niece TaÃs, an
attorney, also took part. She is at risk but has not tested for the disorder.
“We were very well
received,” EdÃlia said. “It was a very productive meeting. We wanted to know
why the Enroll application hadn’t been approved.”
According to EdÃlia,
Dr. Venâncio explained that the CHDI applicants had not answered all the
questions posed in the government paperwork. In addition, the Brazilian
officials disagreed with some aspects of the international research study
standards included in Enroll-HD.
EdÃlia cited the
example of genetic testing. In the Enroll-HD program, which collects
participants’ blood samples and tests for the HD genetic defect, the
participants can decline to learn their genetic status.
“With the Brazilian
government, the patient has to know,” EdÃlia said, referring to the country’s
rules for research studies.
As one of EdÃlia’s
relatives pointed out, Brazil’s
requirement will diminish the number of volunteers willing to offer their blood
for Enroll-HD. Scientists study aspects of the blood to advance the effort to discover treatments.
For those who would
participate and learn their genetic status, either Enroll-HD or the local
clinics involved in the program would need to provide genetic and psychological
counseling, EdÃlia explained.
As the Miranda
family’s earlier experience with genetic testing starkly illustrated, Brazil lacks an adequate genetic counseling
infrastructure. A recent news report noted that this continent-sized country
has only 100 geneticists, for example.
A pledge to resolve
issues
Despite this and
other disagreements over protocol, EdÃlia remained optimistic that Enroll-HD
would enter Brazil. She said that Dr. Venâncio pledged to help resolve all of the
pending issues. He guaranteed a response to a new application within three to
six months, she said.
The Brazilian
advocates also await resumption of the initiative at CHDI, where the long-time
Enroll-HD coordinator, Joe Giuliano, recently left to take a position
elsewhere.
“The coordinator of
CONEP asked us to notify him as soon as we submit the new application so that
he can give it priority,” EdÃlia said.
Long-term hopes
My trip to BrasÃlia
marked milestones in my journey as a college professor, Brazil specialist, and
Huntington’s disease advocate. I also had the chance to visit my brother-in-law
and his family.
From April 25-28, I
helped evaluate proposals to establish research in the social sciences and
humanities to be funded by Brazil’s National Council for Scientific and Technological Development. The prestigious
multidisciplinary meeting of some 40 researchers from around the world widened
my perspective as a scholar branching into the history of science, technology,
and medicine. I hope this endeavor will enhance my ability to interpret the
history of the HD cause and advocate even more effectively for it.
On the evening of
April 28, for my research on Brazilian politics, I attended a turbulent hearing
of the committee installed in the Brazilian Senate to consider the charges of
impeachment brought by the Chamber of Deputies against President Dilma
Rousseff. On May 6 the committee voted 15-5 to recommend the charges to the full Senate.
I was thrilled to have
the health and clarity of mind necessary to witness this historic moment: I had
always thought that by now HD would have prevented me from taking the arduous
trip to my second home.
Despite Brazilians’
current pessimism about their country’s immediate political and economic
future, I felt a renewed sense of hope for the long term after meeting the
Mirandas.
Led by EdÃlia, they
will not rest until the day HD no longer threatens their family and the
families of so many others.
Gene Veritas (aka Kenneth P. Serbin, Ph.D.) at Brazil's Congresso Nacional building in BrasÃlia, April 28, 2016 (photo by Lucas Souza)
