FA Family Newsletter - Fanconi Anemia Research Fund

24 Pages·2011·2.49 MB·English

1 FA Family
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A semi-annual publication of the Fanconi Anemia Research Fund, Inc.
The Emerging Adult Population with FA:
Challenges, Coping and Quality of Life
Amy Frohnmayer presented 18 to 55. Approximately a third
the results of her 2010 Master’s of participants had experienced
thesis, completed as part of her cancer and half had received a bone
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degree in psychology. She explored marrow transplant. Frequently
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i the physical, medical, cognitive cited psychological challenges were
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perceptual and social challenges anticipation of future medical
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c that adults with Fanconi anemia complications, perception of self as
e confront, the coping strategies they fundamentally different from peers,

N use, and how these strategies relate concern about taking responsibility
e to quality of life. for medical management, and
w Frohnmayer interviewed 18 emotions related to the loss of other
s adults with FA and obtained surveys FA patients.
Amy Frohnmayer, MA, is a from an additional 96 adults. Survey data indicated that coping
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r psychosocial researcher at Both groups ranged in age from strategies used most frequently
o Oregon Health & Science
Continued on page 2.
m University. She presented the
results of her Master’s thesis

t project at the annual FA Family
h FA Family Newsletter
Meeting held in Casco, Maine, in 5
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June. Frohnmayer is 24 years old
Hits Milestone Issue
F and has Fanconi anemia.
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This is the 50th issue of the them to the relevant researcher or
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l FA Family Newsletter. The first clinician to review for accuracy.
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newsletter was produced in 1985 Dave Frohnmayer; Mary Ellen Eiler,

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in Dave and Lynn Frohnmayer’s former FARF executive director; and
e living room using an early-model Joyce Owen, PhD, board member
e INSIDE computer and a daisy wheel printer. emeritus, also review all articles and
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in Science News From the The six-page, black and white weigh in with edits.
newsletter was sent to 30 families. Back issues of the newsletter
g Family Meeting .............1-9
Today the publication regularly serve as helpful references and are
Family News ...................10-16
exceeds 20 pages and is sent to available (dating from 1998) on the
Fundraising ....................17-21
about 4,000 families and researchers Fanconi Anemia Research Fund’s
News From the Fund .....22-23
around the world. Lynn still writes website, www.fanconi.org.
every science article and sends
The Emerging Adult Population with FA: Challenges, Coping and
Quality of Life continued from page 1.
were acceptance and active coping; those used least love. Fewer patients chose negative emotions such as
often were substance abuse and denial. Active coping, sadness, fear, embarrassment and anger.
positive reframing and religion (including spirituality) Coping mechanisms that helped those interviewed
were highly correlated with hope (one of the wellbeing were positive thinking, acceptance and maintaining
outcome measures). Self-blame, self-distraction and normalcy, use of external support systems, and actively
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denial were correlated negatively with wellbeing. managing one’s medical care. Substance use and passivity
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Of the 18 patients interviewed, 17 could identify were not helpful.
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e positive aspects of living with FA. Fourteen felt they Advice to other FA patients from those interviewed
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had more compassion for others, 12 had more self- included the following:
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appreciation, 10 had a deeper appreciation for life and • Get involved in your medical care.
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seven felt that dealing with FA gave purpose to their • Reach out to the community for support and advice.
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lives. Participants were asked to choose emotion cards • Try to find something positive about having FA.
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that described how this illness had affected their lives. • Live your life: don’t let FA control your life.
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Thirteen chose hope, 12 picked compassion and 12 chose • Always be hopeful.
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o New Directions in FA Research Discussed
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e Akiko Shimamura, MD, anemia in mice. Scientists hope that this method

F PhD, Fred Hutchinson could eventually cure the FA deficiency in bone
a Cancer Research Center, marrow cells.
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Children’s Hospital, Seattle, • Genomics technology allows scientists to sequence
i discussed research that the entire genome at a fraction of earlier costs. This
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y could be of future benefit methodology could be used to identify quickly and

M to Fanconi anemia patients. accurately all disease-causing mutations.
e Ongoing efforts include the • Scientists at the Fred Hutchinson Cancer Research
e following: Institute, Seattle, have developed a clinically
t successful method of increasing the number of
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• Scientists are now screening for drugs that might blood-forming cells available from a single cord
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correct the FA pathway in cells. When the FA blood unit by expanding the cells in the laboratory.
pathway is working correctly, DNA damage causes Patients undergoing a cord blood transplant who
a small molecule called ubiquitin to attach to the received these expanded cells recovered their
FANCD2 protein (a process called ubiquitization), neutrophil counts in half the time compared to those
enabling DNA damage repair. Researchers can now who received cells that had not been expanded. This
test for the add-on of the ubiquitin molecule and are technology could significantly improve the outcomes
screening for compounds that might effectively result for patients undergoing cord blood transplantation,
in the addition of ubiquitin and therefore correct the which is particularly important for patients who lack
FA pathway. a suitably matched donor.
• Scientists can take adult skin cells, introduce four
different genes and re-program these cells to become Scientists are now screening
induced pluripotent stem (iPS) cells. IPS cells can
for drugs that might correct
replicate themselves and can be cultured to become
the FA pathway in cells.
any tissue in the body. Gene correction combined
with iPS cell technology has corrected sickle cell
2 Family Newsletter #50
Early Gynecological Care is Essential
for Girls with FA
Given the special health include a Pap test and vulvar and vaginal inspection for
risks associated with lesions. Colposcopy is useful to magnify this area, and
Fanconi anemia, parents should be followed by biopsy if suspicious lesions are
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need to introduce their girls seen. Lesions of the vulva or vagina should be treated
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with FA to the need for aggressively with surgery, since FA patients may respond
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gynecologic care early. The poorly to standard radiation and chemotherapy. Other e
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first appointment should be possible therapies include laser surgery of lesions of the
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at age 16 or at the onset of vulva or vagina and topical medicine such as Aldara
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menstruation. (imiquimod) or 5-fluorouracil for pre-cancerous lesions.
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Rahel Ghebre, MD, At each annual visit, patients should be tested for
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University of Minnesota, sexually-transmitted infections (including gonorrhea
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stated that establishing trust with a gynecologist is of and chlamydia) until age 25, a standard of the US
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paramount importance and should be the main purpose Centers for Disease Control and Prevention. Dr. Ghebre
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of the first visit. recommended use of condoms to prevent sexually-
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The gynecologist needs to be aware of FA-associated transmitted infections. Contraception should be used o
gynecological complications or be willing to learn. when pregnancy is not desired. m
Patients should be prepared to discuss potentially The human papillomavirus (HPV) causes cervical
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sensitive issues such as sexual activity, contraception and cancer and genital warts. It has also been implicated in h
risk for sexually-transmitted diseases. vulvar, vaginal and anal cancer. FA patients should be e

The physical exam should include a careful evaluation vaccinated against HPV as early as age 9. F
of the vulva, vagina and cervix. Annual screening should a
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Early Results Reported from Alternate Donor, Multicenter

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Transplant Study Using Radiation-Free Approach e
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Steve Margossian, MD, removing radiation would lead to poor engraftment, but
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PhD, Dana-Farber Cancer so far all 14 patients have engrafted. Eleven patients are
Institute, reported on a alive and disease-free at one to 24 months post-transplant.
five-center transplant study Deaths were attributed to infection, pulmonary
using alternate donors and hypertension and multi-organ failure.
busulfan instead of radiation
in the conditioning protocol. One of the concerns of the study
Participating centers are
was that removing radiation would
Memorial Sloan-Kettering
lead to poor engraftment, but so
Cancer Research Center,
far all 14 patients have engrafted.
Children’s Hospital Boston,
Children’s Hospital of Wisconsin, Cincinnati Children’s
Hospital Medical Center and the Fred Hutchinson Dr. Margossian stated that early results in engraftment
Cancer Research Center. Fourteen patients have enrolled and survival were encouraging. Longer follow-up is
in this study, ranging in age from 5 to 27, with a median needed to assess the impact of this protocol on chronic
age of 8. One of the concerns of the study was that graft-versus-host disease and secondary malignancies.
Family Newsletter #50 3
Understanding the Genetics of FA:
Carriers, Complementation Groups and Cancer Risk
Certified genetics counselor Heather Zierhut, MS, carriers. However, studies show an elevated risk of cancer
University of Minnesota Medical Center, gave attendees in carriers from five different complementation groups.
at Camp Sunshine a primer on the genetics of Fanconi The FANCD1/BRCA2 gene mutations confer a 45%
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anemia. Approximately one in 181 individuals is a risk of breast cancer to carriers by age 70 and up to an
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carrier of FA. In the Ashkenazi Jewish population, carrier 80% risk of breast cancer during one’s lifetime. Ovarian
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e frequency is one in 90. cancer is also a major concern for women carriers. Male
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To know if relatives of an FA patient are carriers, one carriers in this complementation group are at increased
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must know the FA patient’s specific disease mutations. risk of breast and prostate cancer. Two complementation
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If one mutation has been passed on to a relative, that groups, FANCN and FANCJ, typically double a carrier’s
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individual is a carrier of FA. When two carriers of disease breast cancer risk. One study showed that FANCC
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mutations in the same gene have children, there is a one also doubles the risk of breast cancer for FA carriers.
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in four chance that a child will have FA, a two in four A newly discovered FA gene, FANCO/RAD51C, is
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chance that children will be carriers, and a one in four also associated with ovarian cancer in the general
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chance that the child will not have FA nor be a carrier. population. The specific gene mutations that a person
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o Fifteen FA genes have been discovered, and carries can influence the specific cancer risks. Carriers
m patients with defects in the same gene are in the same are encouraged to discuss these risks with a genetic
“complementation group.” Most complementation counselor and/or their health care providers.
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h groups are not associated with an elevated risk of cancer in
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Dietitian Advises to “Eat the Rainbow!”
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M Carol Ceresa, Registered Ceresa believes that certain foods may protect against
e Dietitian, Veteran’s cancer and cited a recent study by Tong Chen, MD,
e Administration Medical PhD, Ohio State University, which suggests that freeze-
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i Center, San Francisco, dried strawberries might play a role in preventing
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spoke to Camp Sunshine esophageal cancer. Other foods thought to have anti-
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attendees about the cancer properties include turmeric (which contains the
importance of good anti-inflammatory curcumin), mushrooms (especially
nutrition in maintaining shiitake), walnuts and avocados. Ceresa recommended
optimal health and helping the book Healing Spices by Bharat B. Aggarwal, PhD,
to prevent cancer. All University of Texas, M.D. Anderson Cancer Center,
three of her sisters had which details healing properties of foods and spices.
Fanconi anemia, which inspired her early interest in the Butter should be avoided in favor of monounsaturated
protective effects of nutrient-rich foods. fats such as olive oil, avocado oil, peanut oil and walnut
Ceresa highly recommends the book What Color oil. One should avoid foods rich in fats, such as pizza,
is your Diet? by David Heber, MD, PhD, Director cheese, hotdogs, sausage, bacon, ribs and fried food.
of Human Nutrition, UCLA. Choosing fruits and Avoid foods high in sugar (sodas, fruit drinks, sweet teas,
vegetables covering a wide range of bright colors candy, desserts) and choose whole grains such as brown
promotes good health. She recommended eating two rice over white rice. Eat fish twice a week (especially oil-
cups of fruit and two cups of vegetables daily and leaving rich fish such as salmon, sardines and mackerel). And,
the skins on whenever possible. Ceresa concluded, “don’t forget to ‘eat the rainbow!’”
4 Family Newsletter #50
Plans Under Way to Study FA Parental Issues
Related to PGD
This year marks the 10-year anniversary of the successful parents of children with FA, not just those who have
use of pre-implantation genetic diagnosis (PGD) with undergone PGD, about their decision-making, opinions
human leukocyte antigens typing for Fanconi anemia. and experiences with the use of this technology. Researchers
Heather Zierhut, MS, a certified genetics counselor, notes will invite FA groups in Canada, the United Kingdom and S
that much has changed since this technology began. She Australia to participate. The survey will be emailed to FA c
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wrote a grant to study the ethical, legal, and psychosocial parents shortly. The study results will be presented at the e
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issues that have surrounded this subject. Through an Brocher Foundation Symposium in Geneva, Switzerland,
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electronic survey, she and her collaborator will ask all in November.
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Managing Head and Neck Cancer in FA Patients w
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David Kutler, MD, Weill to one study. Dr. Kutler strongly recommends that FA o
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Cornell Medical College, patients, male and female, receive the HPV vaccine. This
gave a comprehensive vaccine protects against HPV subtypes 16, 18, 7 and 11;
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overview of head and neck HPV16 causes 90-95% of HPV-related cancers, so this h
squamous cell carcinoma vaccine might protect against many FA malignancies. e

(HNSCC) in the FA Treatment of HNSCCs can cause tremendous F
population. While this morbidity and negatively affect quality of life. Small a
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cancer is relatively rare in the tumors can be surgically removed; surgical removal of
general population, 21% of large tumors can be devastating. Doctors sometimes use i
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FA patients will experience robotic surgery to remove head and neck cancer, which

HNSCC by age 40 at a enables surgical removal through the mouth, thereby M
median age of 31. In the non-FA population, smoking causing less morbidity. e
and/or drinking causes HNSCC. FA patients should not Dr. Kutler reported on 12 FA patients who underwent e
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drink or smoke and must avoid second-hand smoke. radiation therapy at his center. The average dose of i
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Sixty-five percent of FA HNSCCs occur in the oral radiation was 5,278 rads. Eight of 12 patients died, four
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cavity. They appear as ulcers or masses in the mouth during the course of radiation. Patients experienced high-
that do not heal or go away. The human papillomavirus grade mucositis, inability to swallow, low blood counts,
(HPV) has been implicated in certain HNSCCS in the esophageal stenosis and wound breakdown. Radiation
general population and in 83% of FA tumors, according therapy should be done only for more advanced tumors
and by surgeons experienced in FA. Chemotherapy such
as cisplatin should be avoided but Erbitux is a possible
Three take-aways from the presentation:
option for FA patients.
• Patients should not drink or smoke and must
Early detection is crucial. Head and neck surgeons
avoid second-hand smoke.
(otolaryngologists) for adults should conduct surveillance
• Dr. Kutler strongly recommends that FA
examinations, because pediatric ENTs do not commonly
patients, male and female, receive the HPV
see or diagnosis head and neck cancer.
vaccine.
• Surveillance should begin around the age of The youngest FA patient diagnosed with HNSCC
9 and should be repeated every six months was 9. Surveillance should begin around that age and be
and more frequently if cancer is diagnosed. repeated every six months and more frequently if cancer
is diagnosed.
Family Newsletter #50 5
Bone Marrow Clonal Abnormalities:
Laboratories Agree on Major Findings
Betsy Hirsch, PhD, University of Minnesota Medical • The 3q gain can remain as a sole abnormality for two
School, reviewed findings from three major Fanconi or more years without evidence of MDS or AML.
anemia research centers concerning the significance of
S Dr. Hirsch provided a lucid explanation of abnormal
certain abnormal clones found in the bone marrow of FA
c clones and their significance. A “clone” refers to a group
patients. These three centers (University of Minnesota,
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e University of Cincinnati and Charité Hospital, Berlin) of cells that have the same abnormality. These clones are
n not present at birth but are acquired over time, and they
have reached consensus on the following:
c signify an abnormal process in the bone marrow.
e • The 3q gain (a gain of the long arm of chromosome
The incidence of abnormal clones increases with age.
3) is the most frequent recurring clonal abnormality
N FA patients over age 20 have a 70% chance of having an
in FA. This abnormality is rarely seen in pediatric
e abnormal clone compared to 24% of those under age 10.
w patients who do not have FA.
In individuals with FA, the chromosome abnormalities
s • The 3q gain is not transient, but persists in the
found in clones are mostly “unbalanced” and result in a
bone marrow.
F gain or loss of a portion of a chromosome.
r • Clones with a 3q gain frequently expand over time, The 3q gain can be difficult to recognize in standard
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often evolve to include monosomy 7, and lead to
chromosome studies that do not use techniques such as
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myelodysplastic syndrome and/or acute myelogenous
FISH. Chromosome reports that have the term “add”

t leukemia (MDS/AML) in the majority of cases. In a or “mar” next to a chromosome should be carefully
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German study of 18 FA patients with a 3q gain, 90%
reviewed to see if a hidden piece of 3q is involved.
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evolved to MDS/AML.

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Fertility and Fertility Preservation in
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e Rahel Ghebre, MD, University of Minnesota, believes to loss of ovarian function. Females are most vulnerable to
e that fertility and its preservation are subjects that merit radiation damage of the uterus before puberty.
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i discussion well before patients undergo a medical The most successful method of preserving fertility
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procedure that usually results in loss of fertility, such before transplantation is embryo cryopreservation. One
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as transplant. A survey of cancer survivors showed that needs a sperm donor, an obstacle for young patients or
many suffered unresolved grief and depression over their those without a committed relationship. Survival per
infertility and were resentful that fertility preservation thawed embryo ranges from 35% to 90%. For those who
options were never discussed. Physicians and family do not have a partner, egg cryopreservation can be done
should explore the patient’s interest and potential options in certain centers with expertise. Pregnancy rates from
in fertility preservation. this method are around 20%. Investigational methods
Fertility is higher in women with Fanconi anemia than include freezing of ovarian tissue.
in men. A 1991 study of 110 FA females age 16 or older Fertility preservation in males with FA is less
reported 26 pregnancies between the ages of 18 and 25, promising. Some FA males have fathered children, but
with 18 surviving children. A study last year of 300 FA this is rare. The cause of infertility is usually low sperm
patients transplanted at 15 transplant centers revealed count, but also includes anatomic problems and primary
that 10 women had 14 children post-transplant. or secondary hormonal insufficiency.
Women with FA have fewer eggs, fewer follicles, and Options for preserving fertility in males include sperm
experience premature ovarian failure. Hormonal imbalances cryopreservation and hormonal therapies to protect
caused by androgens or chemotherapy reduce fertility due testicular tissue during chemotherapy or radiation therapy.
6 Family Newsletter #50
Psychological/Social Issues Affect Families
During Transplantation
Julia Kearney, MD, develop a symptom management plan. Families should
Memorial Sloan-Kettering identify personal and professional sources of support.
Cancer Center (MSKCC), Children need preparation for what lies ahead. Honest,
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New York, reminded age-appropriate discussion with parents and helping
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families facing a stem cell professionals, books, role-playing medical procedures,
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transplant (SCT) that the and games that help children understand medical issues e
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“family is the patient” and can be helpful.
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to remember that “you are At MSKCC, a multidisciplinary psychosocial team
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not crazy, what you are helps with issues as they arise throughout the transplant.
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going through is crazy!” It’s useful to create a routine by posting goals for each
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She gave a comprehensive day. Psychiatric symptoms such as depression and anxiety
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presentation on social, educational and psychological cause suffering and should be treated.
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considerations before, during and after SCT. Dr. Kearney identified the challenges that await

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Prior to SCT, Fanconi anemia families and patients families post-transplant. These include coping with
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often seem more distressed than non-FA families, so an extremely complex medication schedule, caregiver o
MSKCC conducted a study to investigate psychiatric burnout, and emotional/behavioral issues. Maintaining m
issues in families with FA. Fear of future cancers, contact with peers during transplant (through Skype,
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congenital malformations, neurologic issues, multiple for example) can help with re-entry to school and peer h
affected children, effects of androgen use and infertility contact post-transplant. FA survivors and their families e

issues can contribute to psychological issues and increase need to understand the importance of adhering to F
a family’s stress level. medical advice and follow-up screening, and to avoid a
Goals of a pre-transplant psychiatric consultation are to behaviors that could risk future health. m
address current problems, identify medical stressors and i
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Making a Personal Connection to FA Research e
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Several researchers attended the FA Family Meeting at MD, and Lisa Leathwood, RN, from the National
Camp Sunshine to gather tissue or saliva samples to help Cancer Institute in Rockville, Md. Dr. Alter and
further their Fanconi anemia research. Eunike Velleuer, Leathwood took advantage of the high number of new
MD, Heinrich Heine University, Children’s Hospital, families at Camp this year (14!) to encourage enrollment
Düsseldorf, Germany, took oral brush samples from FA in the Inherited Bone Marrow Failure Syndromes
patients as a means of detecting early-stage head and Cohort Study.
neck cancer. Flavia Teles, DDS, MS, DMSc, The Forsyth We know from past meeting evaluations that families
Institute, Cambridge, took saliva samples for her study appreciate the presence of researchers at Camp and
on microbial markers of oral cancer; and Melinda Butsch clearly understand that their participation in the projects
Kovacic, MPH, PhD, Cincinnati Children’s Hospital can significantly contribute to the body of knowledge
Medical Center, Cincinnati, collected saliva samples for about FA. Likewise, the researchers always express
her work on human papilloma virus (HPV) in people gratitude for the opportunity to meet directly with
with FA. families and acquire such precious samples. Thanks to
In-depth information about families affected by FA both the families and researchers for their efforts to move
was collected by the research team of Blanche Alter, FA research forward!
Family Newsletter #50 7
DNA Testing for FA Before Pregnancy
Certified genetics 51 PGD cycles (average is three per family), resulting
counselor Heather Zierhut, in the births of six healthy children. The chance that
MS, gave Camp Sunshine any one PGD attempt will result in the birth of a child
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attendees an overview of is 12%. PGD is expensive, averaging approximately
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preimplantation genetic $20,000 per cycle. Most insurance companies will not
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diagnosis (PGD). PGD cover PGD.
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offers families the option of Zierhut discussed the physical and emotional
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testing for Fanconi anemia implications of undergoing PGD. Interviews with
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and for human leukocyte 14 women who had undergone PGD elicited both
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antigens status in an early positive and negative emotions: women felt in control,
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embryo before implantation. empowered and hopeful, but also experienced anxiety
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Readers can consult the October 2010 FA Family while anticipating results, and extreme distress when a
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Newsletter for detailed information on the steps involved in cycle failed. It was suggested that couples consider in
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this process. advance what they will do with fertilized eggs that are
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o The Reproductive Genetics Institute of Chicago, not needed when the process ends. Zierhut cautioned
m Illinois, has helped 17 families at risk for FA to try to that PGD can negatively affect future pregnancies and,
expand their families. These families have gone through on rare occasion, be life-threatening to the mother.
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Excellent Transplant Outcomes Continue at

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a Charité Hospital, Berlin
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Over more than a decade, One patient on GEFA03 relapsed with his original

M Wolfram Ebell, MD, clonal abnormality. This patient was given a mild dose of
e Charité Children’s Hospital, fludarabine, Cytoxan and ARA-C, and a stem cell boost
e Berlin, has transplanted from his original donor, and is now disease-free.
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i 27 Fanconi anemia
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patients with protocols
g At his center, Dr. Ebell finds no
using oral busulfan in a
survival difference between
cumulative dose of 2 mg/
kg instead of radiation in patients with matched sibling
the conditioning regimen.
donors and those with alternate
None of these patients
donors.
has experienced organ toxicity clearly attributed to
the busulfan. Dr. Ebell stated that he uses half of the
busulfan dosage currently given in a multi-center, US- Dr. Ebell noted that a large number of FA patients,
based study, which could explain the lack of toxicity. often with androgen support, do not undergo
Alternate donor transplants continue to improve at transplant. This group still survives longer than
Charité Children’s Hospital (see FA Family Newsletter patients who have needed to go to transplant. With
#49 for information on recent protocols and outcomes improvements in transplant outcomes, this could
at this center). All nine patients with alternate donors change. At his center, Dr. Ebell finds no survival
on the present protocol, called GEFA03, survive, with difference between patients with matched sibling donors
only one experiencing grade 1 graft-versus-host disease. and those with alternate donors.
8 Family Newsletter #50
Minnesota Reports on Transplant Outcomes
The University of All 25 patients under the age of 18 with matched sibling
Minnesota Amplatz donors and a chemotherapy only (no irradiation) protocol
Children’s Hospital has are alive and well, with no graft-versus-host disease.
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transplanted more than 195
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Fanconi anemia patients
All 25 patients under the age of 18 i
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since 1982, using a series
with matched sibling donors and a n
of protocols to improve
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chemotherapy only (no irradiation)
transplant outcomes. e
Margaret MacMillan, protocol are alive and well, with no
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MD, reported on 40 graft-versus-host disease.
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patients with alternate
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donors enrolled in the current trial, which has been
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open since 2006. This protocol includes 300 rads of The University of Minnesota also transplanted eight
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total body irradiation, thymic shielding to hasten high-risk patients using a busulfan-based protocol. Seven
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immune recovery, Cytoxan, fludarabine and ATG of these patients had leukemia. Patients experienced high o
followed by either T-cell depleted bone marrow or levels of toxicity; four patients survive. This protocol is m
umbilical cord blood. Survival for the entire group now open only for patients in the FANCD1/BRCA2
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is 87%; all 14 patients under the age of 10 survive complementation group or for patients who cannot h
(median follow-up of 32 months). Dr. MacMillan stated tolerate TBI. e

that although the data suggest that children under 10 Dr. MacMillan announced plans for a new trial in the F
have a better chance of survival than older patients, near future. This trial will reduce the length of time a a
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age itself is not a criterion for coming to transplant. patient is on an immunosuppressant post-transplant in an
Transfusion history is also associated with survival. effort to reduce the risk for life-threatening infections. i
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Testing Service for FA Patients
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Testing for Potentially For more information, contact:
Teresa Kennedy, Director of Family Support Services
Beneficial Cancer Therapy
Fanconi Anemia Research Fund, Inc.
Phone: [phone] or
The Knight Diagnostic Laboratories at Oregon Health
1-888-FANCONI (888-326-2664)
& Science University have recently made available
Email: [email protected]
new molecular tumor tissue tests that are designed to
identify potential treatment targets in cancer and to Send samples to:
predict the likelihood of benefit for patients treated Christopher Corless, MD, PhD, Medical Director
with the latest therapeutics. OHSU Dept. of Pathology (mailcode L113)
3181 SW Sam Jackson Park Road
This new testing will be available at Portland, OR 97239
Phone: [phone]
NO CHARGE to FA patients.
Email: [email protected]
Family Newsletter #50 9
Thriving Through Transplant: Coping Tips*
Knowledge is power.
• Get as much information as possible.
Psychiatric symptoms cause suffering.
• Get professional help.
It takes a village !
• Seek multidisciplinary support. …
F • Don’t be afraid to ask your doctor for appropriate medication. Better living through chemistry.
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The family is the patient.
m • Remember: Everyone is affected.
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l *These tips were provided by Julia Kearney, MD, Memorial Sloan-Kettering Cancer Center, New York, at the 2011
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FA Family Meeting.
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s Family Offers Suggestions to Others
Facing Bone Marrow Transplant
Nearly two years ago, Fanconi anemia patient Peter
Fiaschetti, now 12, had a bone marrow transplant
(BMT). Peter’s mother, Mary Ann, shared some tips on
preparing for BMT at our recent FA Family Meeting.
Here is one of the slides from her presentation:
EARLY DECISIONS
Learn as much as possible about Fanconi
anemia (FA)
• Register with FARF and join the
e-group
• FARF: handbooks, newletters, etc.
Peter Fiaschetti (right) and BMT donor, brother Joey,
• Camp Sunshine are all smiles with the hospital team on transplant day.
• FAmily online journeys (blogs,
CaringBridge, etc.) In preparing for transplant and the possible
complications that may arise, Mary Ann reminds
• Regional FA meetings
families, “Be positive! This is a life-saving experience.”
Seek treatment at a recognized transplant
To view Mary Ann’s presentation in its entirety, go to
center (referrals, insurance approval for
www.fanconi.org/index.php/family_support/annual_
out of network provider, etc.)
family_meeting and click on the “BMT Tips from a
Move near a recognized transplant center Post-Transplant Family” presentation.
Adopt healthy habits For more information about the bone marrow
transplant process, consult our Guidelines for Diagnosis
Raise $$$$ for FARF to fund a cure
and Management, available on the Fund’s website. To find
Appreciate every day—live life out more about what BMT is like for families, register
with the Fund and post questions on our secure e-group.
10 Family Newsletter #50