As you may have never heard of Creutzfeldt Jakob Disease before now, I was in your shoes just under a year ago. What is it, you may ask? CJD is a rare, but fatal neurodegenerative disease, which is rapid progressing that leads to dementia. This disease has impacted my life in the last year as my Mom was diagnosed just after Thanksgiving 2023.
I have seen so many changes with Mom since the Summer of 2023. Mom went from being mostly independent, driving and working, functioning as any "normal" adult. There were some concerns of a possible stroke earlier in 2023 as we began to notice a change in how Mom was communicating so we began scheduling doctor appointments.
These appointments consisted of PCP visits and labwork, which really didn't give us any answers, so we began to get referrals for speech & occupational therapy, as well as a brain MRI so we could be ready to chat with a neurologist.
A weekend had passed after the brain MRI which led to a call instructing us to visit the ER as the MRI was abnormal but there was no explanation to it. So we rushed to the ER where several tests were performed and resulting in a 4-day stay. The main focus was to rule out as much as possible and we were told: no sign of stroke, lyme disease, or menagitis - we were so happy! But, we still didn't have answers so the spinal fluid was sent for testing. During this time is when I learned of prion disease and just how horrible it is, so we were really hoping for some good news after the university completed their tests.
During this time, Mom's ability to speak in complete sentences was diminishing, just as well as her cognitive ability and following simple instructions. We asked for a leave of absence from work while we continued to work with our medical team to get answers. Our first test result from the University (National Prion Disease Pathology Surveillance Center [NPDPSC]) indicated her results were negative for prion disease, so we were elated but still didn't have answers.
It wasn't until our cognitive specialist advised me to get a 2nd opinion from NPDPSC. That 2nd opinion resulted in me sending the MRI disc for reading, which landed in the hands of a well-known doctor in Milan, Italy where we received a letter strongly suggesting the diagnosis of CJD. You see, it cannot be 100% confirmed until autopsy, so we can only trust the doctors and what they have reviewed and tested. This letter was received just after Thanksgiving 2023 and that was the start of grieving and doing everything I can for my Mom, as her POA, to make her comfortable and have the best quality of life she can have while our time is limited.
Since Thanksgiving, I have seen Mom lose the ability to live independently, manage her own medication, dress/feed/toilet/shower herself, and just recently, she has stopped speaking. She may say a word, or a couple of words, here or there, but the days of having a conversation are over. I wouldn't wish this for anyone!
Because this is rare ("CJD reportedly affects around 1 to 1.4 people per million per population per year.
In the United States, this translates to approximately 500 new cases per year.") we do not have a lot of answers because our medical team hasn't seen this before, or some have only seen 1 or 2 cases. We are not sure how much time we have with Mom as most pass away within a year of diagnosis.
Your generous donation will help the CJD Foundation and the Researchers in understanding this disease more, along with finding new tests that can diagnose this disease easier and faster. There are clinical studies with laboratories who are developing medications in attempts to slow down the protein development. Our goal is to raise $10,000 or more, so we can ask for a research grant in Mom's name. We know this is a hefty goal, but we will not stop until we make it!
Thank you for reading, and thank you for your generous donation.