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.
The Complicated Heart: Loving When It Hurts by Sarah Mae is a powerful retelling of a complicated mother-daughter relationship and a story of unforeseen redemption that only God could accomplish.
Sarah masterfully and vulnerably weaves together a picture of her childhood struggles with her alcoholic mother while also showing how God was working the entire time and how He healed her soul, and ultimately their relationship.
More than that, she offers such wisdom about how to set yourself free from toxic relationships and how to love those who have hurt you. Sarah gives a refreshing take on grief and how sometimes you have to grieve your unmet expectations of relationships with living people in order to heal.
“Pain is not shameful, and neither is the vulnerability that comes with it.” – Sarah Mae
There are two sides to every story, and Sarah Mae does a beautiful job of incorporating the words of her mother, words she didn’t discover until her mother had passed away. It was incredible to see her mother’s thoughts and feelings about the same situations Sarah addressed.
Though I do not have a complicated relationship with my own mother, I have had difficult relationship issues in my life (even recently with a friend), and this book spoke to me in many ways. I highlighted many quotes and will continue to ponder them.
It’s okay that we will always have a little bit of sadness in our life regarding loss. The goal isn’t to never be sad, it’s about getting to the point where the pain no longer consumes us or controls our perceptions of ourselves, others, God, and the world.”
Check out The Complicated Heart – it just may be what your soul needs.
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!
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.