Category: Leukodystrophy

Krabbe Awareness Month: Day Nineteen

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We love Hunter’s Hope Foundation for so many reasons, but the Leukodystrophy Care Network is at the top of the list.

We were fortunate that our local hospital (Penn State M.S. Hershey Medical Center) was willing to consult with Dr. Escolar and follow her recommendations, but many hospitals are unwilling – or unaware of the need to consult with her. This can result in inadequate care for Leukodystrophy children.

To learn more about the LCN, go here.

Krabbe Awareness Month: Day Eighteen

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In the rare disease world you must be careful about choosing specialists. With Krabbe, there are few doctors who have had any experience with it, and only two I would consider to be experts: Dr. Maria Escolar at Children’s Hospital of Pittsburgh, and Dr. Joanne Kurtzberg at Duke University.

Dr. Escolar was such a wonderful and crucial part of our journey, offering her expertise with each visit, phone call, email, or text. She consulted with all of Tori’s local specialists to ensure that they knew how to care for her, and for that we are so grateful.

Hunter’s Hope Foundation and their Leukodystrophy Care Network are working to make more doctors aware and able to care for children with leukodystrophies, and they are also in the process of publishing clinical practice guidelines so that each child can receive the same recommendations and care no matter where they are seen. You can read more about their work here.

Krabbe Awareness Month: Day Seventeen

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There is hope. In addition to stem-cell transplants (which have been done for 2-3 decades), gene therapy for Krabbe is on the horizon!

You’ll have to Google gene therapy if you want a more scientific explanation, but essentially it corrects a typo. Example: Krabbe is caused by a lack of the GALC enzyme, so imagine the gene was spelled GACL – close but not correct; gene therapy takes the patient’s own cells, corrects the typo to be GALC, and puts the cells back into the body. The body then begins to produce the necessary enzyme with no risk of rejection.

It’s an incredible treatment already being used for other leukodystrophies!

Krabbe Awareness Month: Day Fifteen

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THIS fact is why we continue to fight for Newborn Screening for Krabbe.

Every baby deserves a chance at life. We have the technology to detect the disease AND effectively treat it if caught at birth, and yet only SEVEN states are screening (that slide is coming).

Owen, Tygh, Ezra, Michael, Lennon…these five babies were transplanted EARLY and are thriving! We won’t stop fighting until every baby is given the same opportunity for life. After all, we would have done anything possible to save Tori, and we want every parent to have that chance.

Krabbe Awareness Month: Day Eleven

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Tori began to show symptoms at five months. Krabbe hit fast and hard, and it robbed her of her smile, and other abilities, immediately. She went to Heaven at 20 months.

But, it didn’t have to be this way. Later this month you will learn about the importance of Newborn Screening and the treatment that is possible if Krabbe is caught at birth.