Krabbe Disease: Twins Find Cord Blood Match
Leicestershire twins Luis and Kian King have found a stem cell match.
Juvenile-onset Krabbe Disease
The boys from Sileby were diagnosed with the rare condition Juvenile-onset Krabbe Disease which causes loss of motor skills and severely shortens life expectancy. In Krabbe Disease the body is missing an important enzyme which breaks down certain types of fat-based compounds called galactocerebrosidase. Unfortunately, without this enzyme the cells in the body do not work properly and compounds can build up within them. In the case of Krabbe Disease the build-up damages the myelin sheath; the myelin sheath is a substance which covers nerve cells like an insulating cover on an electrical wire. Without this insulation the nerves are unable to work properly and signals sent by nerves may not be received by other nerves or even be sent to the wrong place [1].
Krabbe Disease is a hereditary condition there is an increased risk of families having more than one child with Krabbe Disease. Where this illness is known to run in families it may be possible to screen babies in the family for the illness. If Krabbe Disease is detected before symptoms begin to appear then cord blood may be used as a pre symptomatic treatment and improve the outlook of the lives of the children born with this illness [2].
England’s first stem cell transplant for Krabbe Disease.
Luis and Kian were diagnosed in October and the search began to find a suitable stem cell match before their conditions deteriorated too much to go ahead. Unfortunately, the boys sister’s, Ella-May, 11, and Shannon, 14, who are not affected by the disease, were not a match. A series of high profile events around Leicestershire in a bid to find a suitable donor. The Anthony Nolan register could not find a suitable UK donor, then global registers of 25m people were searched.
Matches for both boys were only found when international umbilical cord blood banks were checked. The boys will receive the transplant at Birmingham Children’s Hospital in May, their mum, Laura Otter, said doctors believe the boys are the first children in England to receive a stem cell transplant for the condition.
[1] http://bethematch.org/for-patients-and-families/learning-about-your-disease/krabbe-disease/
[2] http://cells4life.com/krabbe-disease-and-stem-cells/
