Tori received vision, physical, and occupational therapies through Early Intervention, at no cost to us.
The cost of her stander (a vital piece of equipment) was $13,000. Thankfully, our insurance covered it. That isn’t usually the case for most families.
Her adaptive stroller was over $5,000 (again, covered by insurance).
We were so fortunate to have a generous insurance company, and we were even more thankful that they never fought us for any of the needed equipment. But, sadly, this is not the norm. Most parents end up spending valuable time fighting for needed equipment and therapies instead of having quality time with their child. This needs to change.
Most of us have no idea we carry Krabbe until we have a child born with it. For those families, if a subsequent pregnancy were to occur, they could be tested as early as 10-12 weeks to see if the child has the disease. If the tests are positive, they prepare for a stem-cell transplant and often induce labor at 35-36 weeks to ensure that there is little to no disease progression at birth. Someday they hope to do the transplant in utero without chemo, which will be easier for the child.
Because Krabbe is an autosomal recessive mutation, the chances per pregnancy are 25% that the child will be affected, 50% that they will be a carrier, and 25% that they will be unaffected. That may seem like a low chance that a couple would have an affected child, but Dr. Escolar told us that she often sees repeats in families.
On diagnosis day we were told two things in the same minute: Tori had Krabbe and was dying, and that we shouldn’t have more children. We were devastated.
Thankfully, we found out about IVF as an option to have healthy children and our twins are not even carriers of Krabbe. ❤
There is HOPE for families like us to have more children, whether through IVF, adoption, or foster care. Krabbe doesn’t have to mean the end of your dream of having a family.
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.
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.
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!