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Finding genetic mutations from a family keepsake

A few months ago, we introduced you to Grace, a six-year-old girl living with Isolated Congenital Asplenia. Her mother Tara shared Grace’s diagnostic odyssey and the complications having undiagnosed Isolated Congenital Asplenia caused for Grace and their entire family.

Grace’s parents live with an undercurrent of fear whenever Grace develops a fever, for they know with no spleen, Grace’s fevers can never be dismissed as a routine childhood illness. They are always on guard, traveling with both electronic and paper copies of Grace’s medical history. With any fever above 101 degrees, they go to the emergency room, where doctors do a CBC and blood cultures, and immediately give her a dose of Ceftriaxone. The hope is to get this antibiotic into Grace’s bloodstream within an hour of her first getting the fever, to help her fight whatever infection is invading her body.

Recently, there have been two developments the family shared with us. One is a current situation which reinforces the ever-present need for our work at raising awareness about ICA, the other is a fascinating link to the past that may hopefully provide scientists with more information about understanding the genetic causes of ICA. Read on to learn more.

Last month, Grace spiked a fever of 101 degrees. Immediately, Tara and Darin rushed her to the hospital. We’re happy to report Grace is doing better now, but it was another terrifying roller-coaster ride for all three of them. While in the hospital, the ultrasound technician performing an abdominal scan on Grace appeared puzzled. Tara noticed this and was waiting for the question. Finally, the technician turned away from the screen and asked “Did your daughter have her spleen surgically removed?” Another nurse joined the conversation. Tara explained “Yes, Grace has no spleen, but she didn’t have it surgically removed. She has a rare disease called Isolated Congenital Asplenia, which caused her to be born without a spleen.” Both medical providers were surprised, with the nurse finally admitting she had no idea it was possible to be born without a spleen. Tara provided them with more information. This situation makes us all painfully aware we must do more to educate healthcare providers about the fact that children can be born without spleens, a rare disease that is often fatal because no one ever knew their child was missing a major component of the immune system.

A family link from over a century ago has both Tara and me wondering if this link to the past could help shape the future. In 1918, Tara’s great-grandmother lost her 3-year-old daughter LeRona (Tara’s great-aunt) to what was thought to be a case of the flu. This bereaved mother, seeking comfort for her broken heart, preserved a lock of LeRona’s hair.

The lock of hair has been wrapped in tissue paper and stored in a wooden box. Tara’s mother (named LeRona in honor of the aunt she never knew) will share this keepsake with scientists, in the hope they may be able to extract DNA and determine if LeRona also carried the genetic mutation for Isolated Congenital Asplenia. We know this is a long shot. We know there may not be any viable DNA left in the hair sample, but we are thrilled our scientists are willing to entertain the idea and try to test the sample. They’ve already identified one mutation responsible for ICA. Maybe they will be able to discover matches in the genetic code of a little girl born in 1915 to a little girl born in 2015 and find another genetic mutation responsible for causing Isolated Congenital Asplenia.

While Tara’s great-grandmother may have saved the lock of hair to comfort her broken heart or to share a tangible reminder with the family, ensuring her daughter was never forgotten, I’m quite sure she never in a million years would have imagined that this simple keepsake could possibly unlock pieces of a puzzle more than a century into the future. She never would have dreamed she might be advancing the science of DNA linking the past to the present, in hopes of finding hope for future children born with Isolated Congenital Asplenia. We all agree this is fascinating and can’t wait to see what can be learned from a family keepsake.

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