It was a very busy and productive 2 weeks. I had my 6 month brain MRI check up, as well as a bladder and kidney ultrasound. Then I had an appointment with my Geneticist at Mayo to discuss my Whole Exome Sequencing results. Whole Exome Sequencing (WES) is one of the most extensive forms of genetic testing and it revealed that I have another genetic mutation called f12. This genetic mutation leads to a rare genetic disease called Hereditary Angiodema Type 3. Hereditary angioedema is a disorder characterized by recurrent episodes of severe swelling in the limbs, intestinal tract, face , and airway. Unfortunately, the type I have, type 3, is extremely rare and poorly understood. It also is the only type that is involved with blood clotting and if you know my story, you know I have an autoimmune blood clotting disease called Antiphospholipid Syndrome. Not sure what to make of this info yet. Both of my immunologists at Mayo and UCLA said they are pulling literature and meeting with their genetic counsel to discuss this new finding. We also found out some exciting news that my mom and I will take part in a research study at Mayo. Because we both have the CTLA4 gene mutation, we are able to enter this program where they will run more extensive genetic testing called Next Generation Sequencing (NGS). Every quarter (4x a year) they will re-run our WES and NGS testing to check for new genetic mutations in our body. We will be in this study indefinitely. This is amazing because it’s just one step further of the level of knowledge we have about my health and my mom’s health. They say that in my case they will likely find something in the years to come and that way we can detect it early and treat it properly. We have an appointment at UCSD’s Center for Hereditary Angiodema and will hopefully get a lot more information about this. I might become a lab rat, but I will do anything to find treatment and get healthy.
Then, we had an appointment with my brain surgeon to review my 6 month brain MRI. If you don’t already know, I have a brain tumor called a Cholesterol Granuloma and it is located in one of the most inaccessible parts of your brain called the Petrous Apex. When they were looking for MS in 2019, they accidentally came upon this tumor. The surgery is HORRIBLE to remove the lesion, so for now we are just monitoring it to see if it grows or becomes more symptomatic. This MRI showed the same size lesion, thank goodness, so I will have another one in 9 months now! In addition, I have been having this problem with migraines and feeling like my head is going to explode. It only comes on when I’m straining, but it comes on very strong. The doctor wants me to go see an Ophthalmologist to get a work up of the pressure in my eyes and brain. He thinks I might have something called Pseudotumor Cerebri which is when the pressure inside your skull increases and mimics a brain tumor, it causes severe headaches, vision problems, and ringing in my ears. It’s absolutely terrible! Will keep everyone updated on this!
THEN, we had an appointment with a new orthopedic surgeon to discuss treatment options for my back & sciatic pain. I have Degenerative Disc Disease in my lumbar spine and recently they found a new herniated disc causing a pinched nerve on my L2-L3 vertebrates. As doctors love to remind me, due to my multiple comorbidities and blood clotting disease, I am not a candidate for surgery, so first we are going to try an epidural steroid injection. I see the pain management clinic next week, so hopefully I am able to go back to some normalcy soon. I am currently unable to sit up, go for a walk or comfortable drive, and I’m on A LOT of strong pain meds (Dilaudid). I have had epidurals before, so I am familiar with the process & ready to tackle it!
Finally, we finished up the week with my Extensivist. He is truly the best! My nausea has been OUT. OF. CONTROL. in the past month or so. I have dealt with nausea for the past year, but it just keeps getting worse & it’s really hard to tolerate. We are trying an antacid and also changing my diet… I have very little to no appetite, and when I do eat, it is late at night. So, he wants me to work on eating one meal earlier in the night. Overall, I’m just really ill and not doing the best. He recognizes this and we are trying to just keep me comfortable until we can find out more info about potential treatments. We are seeing him every other week now. He is also working on sending my info over to the Primary Immunodeficiency Clinic at NIH for another opinion on my genetic mutations & autoimmunity.
So lots of moving parts right now. I have SO many appointments coming up & with my symptoms at an all time high, I am struggling more than ever to get through my days. I am remaining hopeful though, and I know I can get through this! February is a busy month… I will keep everyone updated throughout the process. I don’t say it nearly enough but I am so thankful for all of the support and love and prayers. I would be lost without all of you! Thanks for reading.