Rare leukemia gene mutation strikes Virgie family
by Ralph B. Davis
(EDITOR’S NOTE: This is the second article in a two-part series.)
ROBINSON CREEK, Ky. - A Pike County family is thought to be the only one in the world who has been diagnosed with an extremely rare gene mutation that is linked to the development of leukemia.
Homer Tackett, of Virgie, has been diagnosed with the same disease that has already claimed the life of three of his siblings, and has also passed that gene to his daughter, Toni Cable, and her youngest son, Dalson, who is now 3-years-old.
The family is being treated and screened by Dr. Ashish Kumar, an Assistant Professor in the Cancer and Blood Diseases Institute at the Cincinnati Children’s Hospital. The story of how this journey of illness, suffering and loss is described by Cable and their physician.
As Cable explains how the events unfolded, even after months have passed since the devastating news was received, she stated she still finds it hard to believe. Before any of her uncles were diagnosed with leukemia, Cable was told approximately 16 years ago that she suffered with a health condition called Idiopathic Thrombocytopenic Purpura, a disease that causes low-blood platelet counts and bruising. The condition can usually be resolved with treatment and doesn’t often present a serious health risk. In fact, Cable didn’t give the health issue much thought until after the birth of her second child, when he began showing evidence of illness. Taking into account the mother’s diagnosis, the parents were told that Dalson had the same disease. If Cable had minimal symptoms throughout her life that she had previously ignored, this was no longer a consideration since her young child now showed signs of significant health problems.
Dalson’s symptoms were more severe than those of his mother’s, and included painful inflammation of his joints. He also experienced severe rashes and skin infections and most troubling of all, blisters on his eyes. His local family doctor referred the young boy to Dr. Kumar in Cincinnati.
The specialist stated that he knew immediately that Dalson had been misdiagnosed, in part because the Purpura diagnosis is never present at birth and it also does not cause the degree of complications that were present with the child. He was intrigued by the family history after hearing Cable speak of how sick her father had become and his extended family’s curse with leukemia, and ordered genetic testing which came back as “inconclusive”.
“I was stumped,” stated Dr. Kumar. “We were at a fork in the road and I didn’t know where to go next.”
As luck would have it, a distant cousin of Cable’s was also trying to have her young son’s medical condition diagnosed. At this point, Dr. Kumar had only ordered basic genetic testing on Dalson that looked for sequences expected in DNA. Genetic testing can be very expensive, and what type of testing can be done initially is often determined by what can be covered by insurance or the diagnostic capabilities of the lab where the test is deciphered. Sadly, the Cable’s had no medical insurance.
The doctor treating the cousin’s child ordered a more comprehensive genetic test that looked at not only sequences but also when the sequences were repeated unexpectedly. As it happens, both sets of tests were to be reviewed by the same geneticist at the Cincinnati Children’s Hospital and that doctor recognized what he determined to be a clear connection. He contacted Dr. Kumar and requested a more advanced exploration of the Tackett/Cable family’s DNA (Comparative Genomic Hybridization), which can examine genes at a chromosomal level. What was discovered is that in Dalson’s case, half of a gene had duplicated itself, which lead to the RUNX1 mutation which has throughout the last 50 or so years, has been directly linked to leukemia.
“Finding this in an extended family is extremely rare – even unheard of,” remarked the physician.
Several members of the Tackett family tree began undergoing testing to see if they carry the mutated gene and Cable was diagnosed as a carrier. Her oldest son, Dalton, who is 15, does not have the gene, nor does Cable’s mother. Dr. Kumar began to interview other family members, beginning with the direct descendants of the 3 uncles who had passed away.
To assist the family with this onslaught of testing and to try to help them cope mentally and emotionally with the devastating news, the physician opted to travel to the Tackett home to make things as easy as possible. The family, though reeling from the news, seemed resigned to the facts and wanted to learn everything possible about the gene and their options for treatment if they tested positive.
In the midst of the studies, there was a glimmer of hope when it was revealed that the 2 uncles that had died from leukemia had received bone marrow implants that had failed, but the donors were blood relatives who also carried the mutated gene, making the treatment ineffective. So, Dr. Kumar said, the standard treatment for leukemia (bone marrow transplants), could very well still be a success. This hope, however, brought little comfort to Cable who cried as she spoke of her cousin that succumbed to leukemia at the age of 36.
“Some days I do nothing but cry but I have to straighten myself up and trudge on, no matter how hard it is. I keep putting one foot in front of the other, praying for a miracle,” said Cable.
In Cable’s household, the only 2 people residing there that are not ill are her mother and her oldest son (her parents lost their home due to the astronomical medical bills and now live with her). Her husband is ill and is no longer able to work as a truck driver, and is believed to have spinal cancer. Her father, Homer Tackett, continues to have declining health and Hospice Care has been called in to assist with him.
Until last spring, Cable and her mother ran 2 successful day care centers and employed several people. Now that her parents have moved in and due to the number of those in her family that are ill, they have closed. To say that finances are tight would be a tremendous understatement. The family is on the verge of defaulting on their mortgage. Even paying for the cost of the gas that it takes to travel back and forth to the doctors has caused a strain. Without assistance that was recently received through donations, their electric would have already been disconnected.
If you would like to assist this family with their medical bills and living expenses, a fund has been established at the U.S. Bank, and donations can be made by informing the teller you want to contribute to the U.S. Bank Tackett Family FDPAML Organization.
Dr. Kumar encourages all blood members of this family to contact the Cincinnati Children’s Hospital to arrange for testing. You may call 513-636-3218 and ask for Tracy Ashworth, the nurse coordinator that was assigned to the case.
“Time is of the essence,” said the doctor. “Everyone in this family needs to be tested.”
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