Add Krabbe Disease to Newborn Screening list in South Dakota.

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Hello all,

   I wanted to take some time today and share with you with my concerns for a genetic condition called Krabbe Disease and my hopes that it could be included in the South Dakota newborn screening. In Krabbe Disease, also known as Globoid Cell Leukodystrophy, the enzyme galactocerebrosidase (GALC), which is essential for metabolizing several important compounds in the body, is deficient. Therefore, psychosine, a toxic substance which should be broken down and naturally released from the body starts to accumulate. This toxic build up damages the central nervous system, particularly damaging the myelin sheath, which insulates the nerves. The destruction of the myelin sheath, called demyelination, impedes the conduction of nerve signals from the brain to the rest of the body. As the myelin degrades, it causes severe physical disabilities and is eventually fatal.


    It is estimated that every 1 in 150 people are carriers for Krabbe Disease. If both parents are carriers, they have a one in four chance of having a child with the disease. Krabbe will affect around 1 in every 100,000 births. Babies will inherit this genetic condition from their parents, however, they will appear healthy at birth. Krabbe Disease can develop anytime between early infant and fifty years of age. However, 62% of Krabbe cases are developed in children around 6 months of age and is often fatal before the child is 2 years old. The child will experience symptoms such as feeding problems, fever, vomiting, loss of head control, seizures, muscle spasms, deterioration of mental and motor function, deafness and blindness to name a few. It is an absolutely torturous disease.


    There is hope and treatment for victims of Krabbe Disease to give them a better quality of life and also extend their lives. However, it is imperative that this treatment be given BEFORE the onset of symptoms, otherwise it is not effective. Stem Cell Transplantation has been shown to significantly extend life and improve the quality of life for children with Krabbe Disease. It is currently the most effective treatment for Krabbe disease. Doctors will transfuse healthy, unrelated donor cells with normal GALC enzyme into the Krabbe patient. A successful stem cell transplant stimulates normal development of myelin and reduces neurological symptoms. As stated above, the key to this treatment is to give it before symptoms are shown because once myelin begins to degrade it is irreparable.


    ​Krabbe Disease is detectable through newborn screening. The State of South Dakota does screen for some diseases already but Krabbe is not among them. States like New York, Missouri, Kentucky, Illinois, and Tennessee all have measures to screen for Krabbe. Recently, Louisiana, New Jersey, New Mexico, Ohio, and Pennsylvania have all passed legislation to screen for Krabbe and are working to get testing for Krabbe implemented in the screening process also. I believe that South Dakota is one of the most family friendly states around. Therefore, it should be our duty to protect these families and especially the children at all costs. I am asking for your help to petition the State of South Dakota to introduce legislation that would put Krabbe Disease on the newborn screening list. I will include some links with more information regarding the disease below. Thank you for your time!