JAK2 Mutation and enlarged spleen: What might it mean?

Thanks so much for all the useful, and lovely replies.

I thought I would add some more about me for context.

I'm in the UK so no Mayo Clinic for me, but this seems by far the most useful forum I have come across so far.

I'm 43, so I think quite young for this? I'm also type 2 diabetic for the last 3 years. I'm above the recommended healthy weight range but not ridiculously, so the type 2 was a bit of a shock too.

I've gone back through several years of blood tests, the only thing that has popped up several times is low haemoglobin, both level and volume. And more recently low creatinine.

I have struggled with anaemia in the past, but had small surgery to stop my periods and it's been LOTS better since.

Hi Lisa,
My husband Dave has struggled with chronic anemia and fatigue for 2 1/2 years. He was diagnosed with MDS MPN RS-T, SF3 B1... confirmed in April with a bone marrow biopsy. He was also found to have the JAK 2 and one other. So much to learn and understand about his blood cancer, it is overwhelming. He has a great hematologist, who has been following his disease since Feb. Hoping to get some help when we meet with the research team and Hematologists at the Mayo the end of the month.
Now this month, we found out he has PAD, with recent angioplasty to improve blood flow to his right leg. Has to go back for the other leg soon. Hemoglobin was down to 9 at his last blood test on 10/24. Highest it has been in the last year was 10.2. Platelets and blood volumes remain high. We will keep reading and following some of these feeds to see how others are dealing with their issues. Good luck to you on your care. Hope you can feel better soon. I know it sucks to see Dave so exhausted, I am sure you are "tired of being tired", too. He is trying to work yet at age 63 and it has become too much. He is an auto technician with a very physically and mentally demanding job, with his blood cancer, it makes it all the harder. I am trying to fight for him to get disability. Denied so far. We are taking life one day at a time! Stay strong, we have no choice but to fight and try to remain positive!! 🙂 God bless!

Thank you for suggesting these other sites. I was able to join the advocacy one and it is very helpful. I was unable to join the others. I don’t think they accept members outside of the USA – – I am in Canada.

Lisa: I recently was diagnosed with PV and I went down the rabbit hole, reading everything and freaking myself out. My doctor did a bone marrow biopsy, which many doctors will do to determine if there is a scarring in the bone marrow. Luckly, mine came back normal.

That said, I am on 500 mg. of Hydrea one time per day. I've done it for 3 weeks, so I am new to this, also! So far, so good. When you take the pill - if that is what your doctor wants you to take, do yourself a favor and fill your mouth with water, tilt your head back and drop the pill into your mouth (from the cap into your mouth - don't touch the pill) and swallow immediately. Hydrea is very intense. If it stays on your tongue for even 2 seconds, my experience shows it can cause your tongue to start stinging or make your mouth sore. Once I started doing the swish and swallow - suggested by a person on these threads - problem solved!

The first time they took a pint of blood out of me in phlebotomy, it took nearly 45 minutes for it to drain into the bag. That is how thick my blood was! 2 weeks ago, the same amount of blood was released in 8 minutes! That is how much reducing the volume of platelets in the blood and taking Hydrea made a difference,

Get used to drinking plenty of water and doing it religiously. The more water you drink each day, the better the medicine will titrate through your system, and you will feel better, too.

Also, I take the Hydrea at bedtime. That way, if there are any uncomfortable side effects after taking it - I don't feel them. Take it with food. I take it with one Special K protein bar - which has 50 calories in it and they come packaged 2 to a pouch - so eat both if you like. That way, you are not taking it on an empty stomach. Be sure to drink a full glass of water with the pill when you take it.

Be kind to yourself and patient. Side effects for all of these drugs are different for everyone. I know how hard this diagnosis can be and how shocking, but once you understand what you need to do, it takes the mystery out of the diagnosis. Try not to dwell on the negative side effects that some people have while on these different drugs. Not everyone experiences the drugs in the same way. Some have absolutely no or little side effects. Everyone is different.

Treat the issue with a positive outlook and do your due diligence. Watch what you eat - see online for diets and what to avoid - and feel better.

I'm 77 and 6 yrs ago I was found to need a TAVR for severe aortic valve stenosis. As part of getting ready for that my platelets were found to be elevated. I was referred to a hematologist who found the JAK2V617F mutation and did a bone marrow biopsy and that led to a diagnosis of primary myelofibrosis and in a few months treatment with Droxia 600mgs/day. I was given Plavix for the TAVR as a precaution against blood clots. I have been stable and recently switched to a different hematologist at a large medical center (UCSF) in san Francisco to hopefully get even more help.

Welcome to Connect, @tinytwiggy. It certainly can be overwhelming with a new diagnosis like your husband’s with MDS. Life throws us curveballs when we least expect it! I’m sure you have tons of questions and concerns. However, you came to the right place. There are several members in the forum who have MDS and with treatment are doing well. I didn’t have MDS, but a more aggressive form of leukemia over 5 years ago and am now cancer free. We’re all here to offer you and your husband hope…we understand what you’re going through.

If you haven’t already, you might want to read through some of the conversations in the forum with other members.
Living with MDS
https://connect.mayoclinic.org/discussion/living-with-mds/
~~~
Myelodysplastic Syndrome (MDS): how to increase red blood cells? https://connect.mayoclinic.org/discussion/mds/

You mentioned that he’ll be seen at Mayo at the end of the month. Does that mean October or November? Will this be in Rochester? My hematologist and bone marrow transplant team is located at Mayo Rochester and I can’t say enough wonderful things about them!
Do you have any questions about your upcoming trip?

Thank you so much for your response, and all this additional help. Yes, it's October 31st, he starts his first Mayo visit. We're staying through November 8th, for multiple appointments and tests. Then go back later in the month as well. Dave will be meeting with the research team and hematology but we do not know his doctor yet. Praying it all goes great! We do have friends that are allowing us to stay, so that's so nice. So happy you're now cancer free!! God bless! 🥰

I’ll be thinking of you and your husband this week. Rochester is my home away from home and I know from experience that your husband will be well taken care of. You’ll get very familiar with the campus while you’re there and I think, be pretty impressed with the outstanding care and efficiency of the teams there.
Let me know if I can help in any way. I’d like to follow your husband’s story. If you don’t mind sharing, will you report back please?
Wish him well for me!

Lori,
Absolutely, we can use all the support we can get! THANK YOU! ❤️

Sorry you are going through this time of uncertainty, Lisa. The uncertainty is worse than the diagnosis! Your doctor may want to do a bone biopsy to see if there is any scarring in your bone marrow. That is normal, so don't freak out over it.

I've been on Hydrea for 3 weeks now and had no symptoms. Yesterday, I was so exhausted, I couldn't move out of the recliner chair for 6 hours. I had to will myself into the bedroom. My face became extremely flushed and red on the left side only.

Today, everything feels better and back to normal. Everyone's journey is different, but the best advice I can give you (that was passed along to me on this thread) was to drink tons of water throughout the day AND when you take your Hydrea, put water in your mouth first and then tilt your head back and drop the capsule (directly from the cap - NO TOUCHING) into your mouth and swallow immediately. In this way, the pill won't linger on your tongue for a second or two. It is such a potent pill that holding it in your mouth for a few seconds can cause irritation to your tongue.

Remember, the warning labels on Hydrea are not kidding when they state to not touch the pill and if you do, scrub your hands immediately.

Now, it is important to remember that Hydrea is usually the first line of defense for PV. Sometimes, doctors will choose to put you on Jakafi or another chemo, depending on the severity of the disease OR due to your intolerance of one of the drugs. It's not unusual to be switched around until you find the drug that works for you.

Hydrea, so far, hasn't been bad for me, but it usually takes about 6-8 weeks to determine the fallout for each individual. Also, some people never have any side effects and then they come 6 months later, out of nowhere!

Know that this disease can be effectively treated. You will be on the chemo for the rest of your life, but you will be alive and once you get acclimated to it, can live a normal life. Please get online and look at PV diets. Sugars, additives and other things can make it worse. Adjust your diet accordingly.
Best of luck to you.