Phosphorylase Kinase Dificiency

I talked to Micah's metabolic doctor a couple days ago. The genetic testing results came back. There is a mutation in a gene called PHKA2. This means Micah has Glycogen Storage Disease Type 9a, also known as phosphorylase kinase deficiency. The prognosis for this type is probably the best we could have hoped for. Some GSD types affect muscle tissue and cause heart issues, however this gene mutation does not typically affect the muscle, only the liver. The other really good thing about this type is that symptoms tend to go away in adulthood. As long as we manage it well throughout his childhood, he should not have any issues or symptoms when he is an adult. 

So for now, through his childhood, he will need corn starch at night to keep his body out of metabolic distress and he will need a low sugar and high protein diet to minimize liver damage and increase energy levels. The ultimate goal is to normalize his blood levels and liver as much as possible. He may still have a hard time with vigorous exercise and energy levels. His growth will probably be stunted through childhood and puberty may be delayed, but after puberty his growth should catch up to normal and his symptoms should dissipate. If we were not to manage it now he would have a lot of liver damage and feel sick and tired all the time. We are still working on figuring out the correct dosage of corn starch for him, and will continue to feed it to him at 2 am. We will also have, at least, yearly follow ups with the metabolic clinic at the Children's Hospital, including blood work and liver exams. We are also still figuring out the best foods for him to eat. 

The other thing about type 9a is that it is almost always an X linked genetic trait that has been passed on by the mother. So the doctors really want me to get tested to see if I am a carrier. If I am they want my sister to get tested and if she is, her daughter will want to get tested eventually. There is a very small chance that this is a genetic mutation and Micah is the first in the family to have it. Being X linked, females are only carriers and males are the ones that actually show symptoms. So Maelyn could be a carrier, if I am, but will most likely not show any symptoms. However at this point, if she makes it into adulthood, her ability to carry biological children will be questionable, so it might not matter if she is a carrier. 

Here is a link to a really thorough explanation of GSD Type 9. 

Overall, this is good news and a relief. It is still hard for me to swallow that we have two medically needy kids, even though Micah is generally fine. I'm dealing with mommy guilt and the grief of my kids not having the life I always pictured. Each day I process more and am coming to terms with the different plan God is laying out for us. (A year later I am still trying to come to terms with being in CO.) We still have time to prepare ourselves and the boys for what will lay ahead for Maelyn's life if she is born with the heart we saw a couple weeks ago. I am still praying for a miracle, that God would ultimately be her only surgeon. But we don't know His will. Please continue to pray with us. For healing, for peace and comfort, and for God to be glorified. Pray for finances, Tim's job, scheduling and support with child care. Pray for our teams of doctors and nurses, that they would have the wisdom and knowledge and that they would ultimately see Christ in us. Praise you God for the work you are doing that we can not even see or fathom.