If you have been following our quest for a diagnosis, you know that Billy was accepted as a patient with the Undiagnosed Diseases Network (UDN) earlier this year. We are so thankful for the opportunity he has been given to participate in their program. We are hopeful that their team of doctors and researchers can uncover the cause of the debilitating episodes that have plagued his life for the last several years.
Over the summer, he and his parents had genetic testing and counseling. Preliminary results revealed a variant in the KIF1B gene. Previously this variant was one of “unknown significance”. However, recent research has shown that it may be one of the most common mutations associated with pheochromocytoma and paraganglioma tumors. Click here to read more:
https://erc.bioscientifica.com/view/journals/erc/24/8/ERC-17-0061.xml
Last week a team of UDN Doctors from around the country reviewed and collaborated on his case.
Today, he had his first appointment with a few of the UDN Doctors at Vanderbilt. They spent hours with him documenting the details of his case and family history. They did a physical exam and ordered more labs and testing.
After going over his extensive medical file and genetic discoveries, it sounds like they still believe a pheochromocytoma is a likely cause for his issues, despite previous testing being inconclusive.
The last thing the Dr. said before leaving the room was “I believe you have a pheochromocytoma. Let’s find it and get it out!”
The immediate plan is to return to the lab Friday morning to complete the ordered tests. It will likely take several weeks for all the results to come back. They will contact us after reviewing them and we will discuss next steps.
As always, we appreciate your concern and continued prayers.
Jeremiah 42:3
Pray that the Lord your God will show us what to do and where to go.
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