Adelyn's initial blood work for the most likely types of leukodystrophy came back negative. Her clinical records and MRIs were sent off to a genetic specialist who selected which of the known types of leukodystrophy fit her case and tested for enzymes that would match those types. While on one hand we are relieved that we now know for sure it is not the most severe form, Krabbe (life expectancy 18 months to 2 years), we are also left with a lot of questions since all the ones tested for came back negative. A lot rides on that information, but only 50% of leukodystrophies ever get diagnosed. We are really praying that we don't permanently stay amongst the undiagnosed.
We found out about a study called LeukoSEQ at Children's Hospital of Philadelphia, which has one of the nation's leukodystrophy centers and is run by one of the top doctors in this field, Dr. Vanderver. We applied for the study, they've reached out to our hospital to have her records forwarded to them, and now we are just waiting to find out if based on her MRI and clinical data she will qualify.
This is why qualifying for this study would be such a big deal:
We currently know and understand approximately 2% of the 30,000+ genes that make up our DNA. A regular geneticist, through the typical route of diagnosis, can order a DNA test called Whole Exome Sequencing (WES). This test takes 4-6 months to get results back, but it pulls apart and studies that 2% of genes we understand and checks to see if there are any matches to known leukodystrophies (or any known genetic diseases for that matter). All currently diagnosable genetic diseases are found in this 2% -- MS, genetic heart conditions, etc.
If we qualify for the LeukoSEQ study, however, they will do something called Whole Genome Sequencing (WGS). This would analyze 100% - every.single.one - of Adelyn's 30,000+ genes AND both Mike's and mine (free of cost as it is funded by a research study). They will look at the 2% we know, but also at the other 98% that we don't yet understand, because they are searching to learn more for the sake of research and developing knowledge in this field of DNA and leukodystrophy.
The person who told me about this study from a Leukodystrophy support group had previously been a part of this study, and they found a new type of leukodystrophy for her daughter, and were able to identify that she and her husband were in fact carriers, whereas if they had gone a standard medical route, it would have always gone as an undiagnosed type and they would have never known if it was specifically a hereditary genetic type of this disorder or if it had been a spontaneous mutation.
The study also takes many many months to get results (and there are also cases where it still comes back inconclusive), but we feel this is our best option right now.
Prayer requests:
1. Short-term: Adelyn will be accepted into the LeukoSEQ study.
2. Long-term: We will have a conclusive diagnosis for her leukodystrophy type.
Thanks for your continued prayers, love, and support! I'm amazed at how many people are following our story and have to say -- we have one pretty badass tribe!
This is why qualifying for this study would be such a big deal:
We currently know and understand approximately 2% of the 30,000+ genes that make up our DNA. A regular geneticist, through the typical route of diagnosis, can order a DNA test called Whole Exome Sequencing (WES). This test takes 4-6 months to get results back, but it pulls apart and studies that 2% of genes we understand and checks to see if there are any matches to known leukodystrophies (or any known genetic diseases for that matter). All currently diagnosable genetic diseases are found in this 2% -- MS, genetic heart conditions, etc.
If we qualify for the LeukoSEQ study, however, they will do something called Whole Genome Sequencing (WGS). This would analyze 100% - every.single.one - of Adelyn's 30,000+ genes AND both Mike's and mine (free of cost as it is funded by a research study). They will look at the 2% we know, but also at the other 98% that we don't yet understand, because they are searching to learn more for the sake of research and developing knowledge in this field of DNA and leukodystrophy.
The person who told me about this study from a Leukodystrophy support group had previously been a part of this study, and they found a new type of leukodystrophy for her daughter, and were able to identify that she and her husband were in fact carriers, whereas if they had gone a standard medical route, it would have always gone as an undiagnosed type and they would have never known if it was specifically a hereditary genetic type of this disorder or if it had been a spontaneous mutation.
The study also takes many many months to get results (and there are also cases where it still comes back inconclusive), but we feel this is our best option right now.
Prayer requests:
1. Short-term: Adelyn will be accepted into the LeukoSEQ study.
2. Long-term: We will have a conclusive diagnosis for her leukodystrophy type.
Thanks for your continued prayers, love, and support! I'm amazed at how many people are following our story and have to say -- we have one pretty badass tribe!
"My tribe is HOW big??? Wow!!!"
"That makes me so happy!"
"Okay, let's all pray. I'll start."
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