Play For FA

Shining light on Fanconi Anemia

  • Children
  • Sean McQueen

About Fanconi Anemia

Fanconi Anemia (FA), named for Swiss pediatrician, Guido Fanconi, is one of the inherited anemias that leads to bone marrow failure (aplastic anemia). It is a recessive disorder: if both parents carry a defect (mutation) in the same FA gene, each of their children has a 25% chance of inheriting the defective gene from both parents. When this happens, the child will have FA.

There are at least eleven FA genes (A, B, C, D1 (BRCA2), D2, E, F, G, I, J, and L). These eleven account for almost all of the cases of Fanconi anemia. Mutations in FA-A, FA-C, and FA-G are the most common and account for approximately 85% of the FA patients worldwide. FA-D1, FA-D2, FA-E, FA-F, and FA-L account for 10%. FA-B, FA-I, and FA-J represent less than 5% of FA patients. Nine of the Fanconi anemia genes have been cloned.

FA occurs equally in males and females. It is found in all ethnic groups. Though considered primarily a blood disease, it may affect all systems of the body. Many patients eventually develop acute myelogenous leukemia (AML). Older patients are extremely likely to develop head and neck, esophageal, gastrointestinal, vulvar and anal cancers. Patients who have had a successful bone marrow transplant and, thus, are cured of the blood problem associated with FA still must have regular examinations to watch for signs of cancer. Many patients do not reach adulthood.

Fanconi anemia patients are usually smaller than average. FA usually reveals itself before children are 12 years old, but in rare cases no symptoms are present until adulthood. Patients may feel extreme fatigue and have frequent infections. Nosebleeds or easy bruising may be a first sign. Blood tests may reveal a low white cell, red cell or platelet count or other abnormalities. Sometimes myelodysplasia or AML is the first sign of FA.

What are the signs of FA?

FA is sometimes evident at birth, but because it is a rare condition, it may not be detected until later in childhood. The following symptoms are common among FA patients:

  • Hand and arm anomalies: misshapen, missing or extra thumbs and/or incompletely developed or missing arm bones
  • Skeletal anomalies of the hips, spine, or ribs
  • Kidney problems, including missing or horseshoe kidney
  • Skin discolorations
  • Small head or eyes
  • Mental retardation or learning disabilities
  • Low birth weight
  • Gastrointestinal difficulties
  • Small reproductive organs in males (most FA individuals are infertile)
  • Defects in tissues separating chambers of the heart

What are the effects of FA?

Though considered primarily a blood disease, FA can affect all systems of the body. FA patients are highly susceptible to head, neck, gynecological and/or gastrointestinal cancers as well as others. Many will develop acute myelogenous leukemia (AML). Those who have had a successful bone marrow transplant and thus, are cured of the blood problem associated with FA still must have regular examinations to watch for signs of cancer.

How many children have FA?

While the total number of FA patients is difficult to document, it is estimated that there are about 500 FA individuals in the US, and approximately 3,000 cases worldwide. Scientists also estimate that the carrier frequency (carriers are people carrying the defect in an FA gene, whose matching FA gene is normal) for FA is somewhere between 1 in 600 and 1 in 100.

Why is finding a cure for FA important?

Curing FA is not merely important to these 3,000 patients and their families. Research has shown a relationship between the genetic activity of FA and breast, neck, head, other blood, and uterine cancers. Discoveries in FA genetic research have led to important breakthroughs for these other cancers. So while FA itself may be a rare disease, continued support for FA research indirectly supports research for those who are affected by FA as well as other cancers.

Alex and Jacqueline's Story

Jacqueline was born with what we thought was VACTERL association. She had abnormalities of the heart, kidneys, esophagus, spinal cord and vertebrae. So at her five year check-up in September 2011 I was concerned about why she was sucking on a wash cloth, wondering if she was anemic. Our pediatrician drew blood and did a series of tests on her. All her labs looked okay except her platelets were very low. We were then instructed to see a Hematologist. After several months and many tests later we discovered Jacqueline had a very rare disease called Fanconi Anemia (FA)-a disease that leads to bone marrow failure and cancers. Our world just stopped.

Trying to give her the best care possible we went to Children’s Hospital of Philadelphia for a second opinion and to get her big brother tested to see if he would be a match for her when it was time to have a bone marrow transplant (BMT). To our surprise Alex’s blood counts were dangerously low. We knew in that instant that he too had FA! Our world came to a screeching halt AGAIN! We couldn’t believe it; Alex has been perfectly healthy all his life. But there was no time to mourn because his counts were so low that he needed a bone marrow transplant in the next 3 months to survive.

So off we went to one of the FA BMT centers for his transplant. We spent 4 long months in Cincinnati. Alex had very few complications, which we felt very blessed about. He is now four years post transplant. We are happy to say he is doing well and is acting like a typical 14 year old boy.

As for Jacqueline, well we are excited to say she had a successful transplant in 2016 at Cincinnati Children's Hospital and is doing very well. January 2017 she returned to school and is acting like a typical 10 year old girl!

Sean's Story

Sean was just three and a half pounds when he was born. Because of his low birth weight, thumb abnormality, and missing kidney, he spent the first two weeks in the NICU surrounded by doctors who poked, measured and x-rayed every portion of his body! Sean's doctors presented us with a series of potentially devastating diagnoses, but none of them quite seemed to fit. Sean was eventually discharged from the hospital but the doctors remained mystified and advised us to follow up with the geneticist in a few months.

We immediately began an intensive research process ourselves, scouring the internet and spending long days at the MCV medical library searching for clues... all to no avail. Finally, when he was just about one-year-old, we got a letter in the mail (on a Friday afternoon... we will never forget that awful day) stating that our doctor would like to test him for a disease called Fanconi Anemia. "That doesn't sound so bad", we thought. "Maybe he just needs some more iron in his diet.. Ignorance is bliss, isn't it?

Once the diagnosis was confirmed Sean began a journey filled with invasive procedures designed to improve longevity and track progress in battling his disease and managing his symptoms. He has undergone countless blood draws, skin and bone marrow biopsies, MRIs, endocrine studies, physical therapy, occupational therapy and two years at a feeding clinic (little or no appetite is an unfortunate symptom of FA). We are, however, amazed at how far he has come since his days in the NICU. His stamina and positive attitude inspire and amaze us each day. To know Sean is to love him.

Today (Spring 2017) Sean is able to live relatively symptom free. He is obsessed with ESPN, manages his high school football team, plays basketball, golf and does most other things that other 18-year-old boys like to do. He must have a CBC (blood draw) every four months and a bone marrow biopsy annually in order to keep a close watch on his rate of bone marrow production. We feel very lucky that we are able to enjoy this period of normalcy but are always "on guard" for it to change. We dread the day when we need to start packing for transplant. We try not to dwell on that reality but it unfortunately, it gnaws at us. We hold our breath before, during, and after each blood draw and count our blessings each time we get back results that allow him more time.

Event Info

Brew, Band & BBQ

Saturday

Hippodrome Theater
Richmond, VA

Music by Flat Elvis

Barbecue Provided by Q BBQ

Beer and Wine

Tickets are $100 per person.

Casual Attire

All proceeds benefit the Fanconi Anemia Research Fund

Please click here to register for the Brew, Band & BBQ!

For more information please contact Lorraine McQueen at lmcqueen01@verizon.net or 804-247-1459.

Contact Us

Play for FA
14118 Cotesworth Way
Midlothian, Virginia 23113

For more information contact:
Lorraine McQueen at lmcqueen01@verizon.net or 804-247-1459.