NEW ORLEANS, La. (Ivanhoe Newswire) – Genetic disorders are caused by an abnormality in the child’s DNA. Ten out of every 1,000 babies born will be diagnosed with one – in fact, 17 percent of couples are at a high risk of transmitting a genetic disorder to their child. A team of doctors saved one young child, curing him of his near-fatal disease. Rare disease
Nap time ended much too soon for little Miller Gamberi. Mom, Garyn doesn’t mind, though, she’s just happy to have her little boy home.
“He was perfectly healthy. Never been sick or anything until he was about six months old. He didn’t want to drink his bottles. He didn’t want to eat purees,” Garyn recalls.
And then, his oxygen levels dropped. Miller was diagnosed with pneumonia. Follow up tests revealed Miller had a fungal lung infection that attacks people with weakened immune systems. Doctors at Children’s Hospital New Orleans needed to find out why his immune system was weak. DNA sequencing and immunological tests revealed Miller had a rare genetic disorder called MHC Class II Deficiency. Rare disease.
LSU Health Pediatric Hematologist/Oncologist at Children’s Hospital, Zach LeBlanc, MD says, “He has a specific genetic defect that doesn’t allow his T-cells to function appropriately.”
This revelation meant Miller was more prone to infections, so he needed a bone marrow transplant.
“He needed to receive, actually, chemotherapy prior to, so that all of those other cells could be killed and the garden could be, quote on quote, ‘emptied’ so that there was room for the new stem cells to come and grow,” Dr. LeBlanc explains.
They found a bone marrow match, but Miller caught COVID while in the hospital and the transplant didn’t take. Miraculously, the same donor agreed to donate bone marrow a second time!
Dr. LeBlanc adds, “He, actually, responded really well to the second infusion of stem cells and has had great counts ever since.”
Now, Miller could soon be completely cured. Miller had an unrelated bone marrow donor twice. Dr. LeBlanc says a sibling is the best possible match, but that wasn’t an option for Miller. If you’re interested in donating, you can find more information at bethematch.org.
Contributors to this news report include: Marsha Lewis, Producer; Matt Goldschmidt, Videographer; Roque Correa, Editor.
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Source:
https://www.igenomix.net/blog/10-things-you-need-to-know-about-genetic-disorders/
MEDICAL BREAKTHROUGHS
RESEARCH SUMMARY
TOPIC: DEFYING THE ODDS: CURING LITTLE MILLER OF A RARE DISEASE
REPORT: MB #5319
BACKGROUND: Genetic disorders in children are conditions caused by abnormalities in an individual’s DNA, often present from birth. These disorders can result from mutations in a single gene or a combination of genetic factors. Some genetic disorders are inherited from one or both parents, while others occur spontaneously due to new mutations. There are thousands of known genetic disorders, and they can affect various aspects of a child’s development and health. If parents have a mutation in the same gene, their child will have a 25 percent chance of developing a genetic disorder. Seventeen percent of couples are at a high risk of transmitting it to their child. Managing genetic disorders in children involves a multidisciplinary approach, including medical interventions, therapies, and support for affected individuals and their families.
(Source: https://www.igenomix.net/blog/10-things-you-need-to-know-about-genetic-disorders/
DIAGNOSING: Diagnosing a genetic disorder in a child involves a systematic process that combines clinical evaluation, medical history analysis, and often genetic testing. The steps may vary depending on the suspected disorder and the symptoms exhibited by the child. The diagnostic process usually involves a clinical assessment of medical history and physical examination, genetic counseling, genetic testing, prenatal testing, imaging studies, confirmatory testing, multidisciplinary collaboration, and treatment therapies. Genetic counseling plays a vital role in helping families understand the implications of the diagnosis, and guiding them through decisions related to treatment and future family planning.
(Sources: https://www.ncbi.nlm.nih.gov/books/NBK132142/
https://www.chop.edu/news/health-tip/genetic-testing-101-what-parents-need-know
NEW TECHNOLOGY: A doctor at Children’s Mercy Kansas City Hospital has begun using cutting-edge technology that is helping doctors diagnose children with some of the rarest existing genetic diseases. The new technology replaced rapid exome, chromosomal microarray analysis, and other diagnostic tests as the first-line genetic tests.
FOR MORE INFORMATION ON THIS REPORT, PLEASE CONTACT:
Marykay Thevis
If this story or any other Ivanhoe story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Marjorie Bekaert Thomas at mthomas@ivanhoe.com
