Yesterday, we arrived at NIH early in the morning once again. First thing, we met with Dr. Chong, the Endocrine Fellow to discuss Leigh’s case. Then, we met with Karen Adams, the clinical coordinator, and Dr. Pacak, the chief of the Pheochromocytoma/Paraganglioma Protocol.
Leigh had his IV put back in, and he had another PET scan in the afternoon. During this scan, they found another tumor, this one in his chest. This tumor is small, and it is “active.” Dr. Pacak informed us that he is confident that this tumor is the one producing the hormones causing the Pheo as well as the other tumors.
We now need to consult with a thoracic surgeon to address the tumor in the chest (the thoracic surgeons only see patients in clinic on Friday, and we are hopeful that we will be seeing them this week). The tumor in the chest will have to be removed first, and then they will address the two tumors in his neck. After those three have been removed, Leigh will most likely undergo radiation treatment to treat the tumor in his ear. We will also be consulting with an ENT here at NIH regarding the ear tumor.
We have an added scan this week, and they have added two more studies that Leigh will undergo next week and the week after.
Dr. Pacak is positive that this is caused by the genetic mutation, and has offered us genetic testing for Jory and Macyn; we are hoping to have this testing for the girls done either this week or next.