Essential Thrombocythemia - Jak 2 Positive ***PLEASE HELP***

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My mother (63 years old) was recently diagnosed – jak 2 positive. I would greatly appreciate any insight, guidance, information you can provide.

If I may have a moment of your time, I’d like to rewind the last six months to share with you what exactly happened. In September 2016, my Mom was feeling dizzy often & experiencing fainting spells. One time she actually fell, so I took her to a Primary Care Physician. They ran a full blood panel & she was told she has high White Blood Cell Count, High Platelets, High Chloesterol & High Blood Pressure. They referred her to a Cardiologist & the echocardiogram came back normal.

My Mother suggested they check the carotid arteries for blockages & a sonogram took place. They found mild stenosis on one side & moderate on the other. It was recommended she return in one year to complete the same test.

 

Everything turned worse when she started taking her medications. She was prescribed Losartin Potassium (for the Blood Pressure) & Atorvastatin Calcium (for the high CL). She was taking the medication for about six weeks & developed severe side effects. We had called the doctors office numerous times to alert them the symptoms were progressing & were always disregarded. It got the point she had an actual lesion in her mouth & we spoke with a nurse who recommended she halt all medications at that point.

 

Meanwhile, her Potassium levels were rising & rising (due to the BP medication) & this was never handled correctly with her Internist. Instead, they suggested she see a Nephrologist. I was in disbelief of the situation. Her Potassium levels were within a normal range before the medication was prescribed. After doing some research, I know it was very dangerous since that can cause strain on the heart.

 

So, from a time frame perspective, it’s now November of 2016. Multiple blood tests have been completed & it was recommended she see a hematologist. We scheduled an appointment, but it was booked so far out (6 weeks), that was the earliest appointment. The hematologist was very nice & caring & said he would recommend completing a JAK 2 mutation blood test. Unfortunately with the insurance my Mother had, it would need to go through pre-approval & that takes weeks.

 

Meanwhile, my Mom is constantly feeling weak, sleeps a lot, has a feeling of the inner lower lip sticking to the inside of her mouth. She completed changed her diet.

 

In January 2017, she got a new health insurance plan & carrier. Plus, we moved back to New York so she could start seeing better doctors, in comparison to the state of CT. We made an appointment with an Internist, who originally diagnosed my father many years ago when he was terminally ill. We have a lot of trust & confidence in him.

 

He ran a large blood panel, I was there when they took the blood work. I accompany her to every single appointment. They took six vials, I was praying it would be good news this time around. Here goes, the good news is that her Blood Pressure has improved. She doesn’t need to be on the medication anymore. Also, the good news is the Potassium levels are now in a normal range. Everything is normal (even the White Blood Cell Count), but the Platelets are still high 557 range. They were even higher months ago – 628 range but she was again referred a hematologist/oncologist. She was told she is also Jak 2 Positive.

 

It's my understanding Jak 2 is a genetic mutation in the gene that causes the body to create too many platelets, which damages the bone marrow.

 

The appointment is scheduled for late March. I don’t understand why it takes so long to see these specialists. I tried to move it up sooner & was told that was the soonest. So now, the waiting game continues. I need to know what to expect next, from people who have been through this. I feel very alone right now, since everyone I can talk to about this in my life isn’t familiar, so it feels like I’m spinning in circles looking for answers.

 

Does this mean she has cancer?

What does the treatment look like?

What are the medications they prescribe?

What are the side effects from taking the medications?

 

It looks like there is no cure & this is genetic? It’s also my understanding that people who have this will need to go the hematologist often to test the blood, perhaps on a monthly basis?

 

Also, they might want to biopsy the bone?

What is the success with bone marrow transplants?

How do I know if I am compatible, to give her my bone marrow if it really came to that?

 

I have so many questions & I feel so lost. My Mom is my best friend. We live together, I am 33 years old. This whole experience has put me in a care taker role. When I’m not at work, I’m at home making sure she is okay. Some days are good, other days not so much. I feel that she has improved since September, since action was taken & that provides a sense of relief.

 

She is now taking baby aspirin (81) every other day, Simvastatin & a thyroid medication she has been taking for the last forty years (she has hypothyroidism). The Simvastatin is 20mg, which is half the dosage of the Atorvastatin Calcium she was originally prescribed. I think it’s so important to pay attention to how medication is making you feel, because if it’s overlooked & your body has a bad reaction, it can go downhill very fast.

 

We ordered Life Alert when this all started. She has the GPS Life Alert, keeps it clicked to her purse. It brings peace of mind that she has it when I’m at work. She doesn’t really drive anymore & if she does, very short distance. It breaks my heart how this health scare has completely changed her life, I only want the best for her. And that’s why I’m here. I need to talk about this & sharing her experience in hopes other people read this.

 

I never heard about Jak 2 until recently. I’m not going to lie, it can be overwhelming reading up about it online. I almost fainted when I started researching yesterday, so I’m doing it in increments. I need to be strong for my Mom, especially now.

 

I thank you for reading this post. I would really appreciate if you could respond or reach out to me. Let me know what you have been through, or perhaps a family member. We’re all in this together after all. You don’t know what someone else is going through until they put it out the here.

 

Thanks for your time. Wishing healthy & positive vibes to everyone.

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    Hey,

    I made this account literally just to respond to you. It feels nice to share as well! I have essential thromobrocytosis as well. I totally agree with how frustrating it is to get appointments. I remember when we got the results from a regular blood test I had done as I had realized I never got blood work done before, the results showed I had 3-4 times of what a normal person's platelet count is. They normally do the blood test another time after a while as your platelets can be very high if you are sick as well which is just primary thrombocytosis so if you cure the origional problem (such as the fever) the platelet count comes back down to normal. We did the test three times and then I went to another family doctor instead (I have two, long story). He realized I need to go to a hematologist and got me an appointment with one for after two or three months. I was also very anemic and it's also very rare cancer and it very rarely happens to someone whos a teenager like me so they assumed the platelet count had to be related to my anemia took a long time to treat but also made the specialist give me more priority I guess cuz after that I could get appointments earlier. 

    I think you may have read about most of this by now, but I might as well still write it. Firstly, ET isn't always genetic, but it is in up to 55% of patients. Basically JAK is a gene. And it gives instructions on making protein. Bone Marrow is where stem cells are produced and the JAK2 protein is a part of the JAK/STAT pathway (very important pathway). The protein's also imp. in controlling production of blood cells from stem cells. Stem cells are just basic cells that have not become a specific type of cell yet (they become any type of cells such as muscle cells) But the ones we are talking about basically have the potential to develop into either RBC, WBC or platlets.  Stem cells are located within the bone marrow. That is why the bone marrow biospy  is important. I'm having my biopsy done soon as well (Ive been putting it off since over a year) and then I ran out of coverage. I wouldn't worry about the potassium, In my blood test high potassium levels showed up as well, which my doctor informed me of, however my blood specialist let me know that it just looks like it's high due to the ET  and that is actually isn't so maybe hers isn't either. It's called phantom something I don't really remember. They probably will do a bone marrow test and even though they say there is a risk of ET turning into leukemia, research shows it's very rare. If you don't have the JAK mutation then you probably will be able to donate your bone marrow, but it's very unlikely that you will be a good match. Even her own siblings might not match. Finding bone marrow matches are very complicated and hard. My blood specialist said it helps them better confirm that it's a JAK mutation which is the problem (Not sure what he meant and he's always trying to sugarcoat things. However, what I do know is ET is manageable, it doesn't affect a persons life expectancy. 

    Baby asprin is good because it makes blood thinner and this reducing platelets and thus reducing risks associated with high platelets such as blood clots leading to strokes and heart attacks, et cetera. It sounds very scary but as long as she keeps regular blood work done she will be fine 

    Honestly dont read too much about it. I know you want to and it's hard not to but don't. It will unnecessarily scare you. Also, don't feel alone, or scared. 

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