Essential Thrombosis - CARL Mutation Positive

Hi All,

Good day. My name is Joanne and i come from Malaysia. I am sorry if i make grammar mistake as my English is not good.

My hubby was done medical check up last month and we found that high platelet ~ 1200. The next day, we went to Gleneagles Hospital in Singapore to seek for heamotologist's advise. My hubby did a lots of blood test and confirmed JAK 2 negative, BRC-leukemia negative. Doctor suggested him to do another mutation test and found out it is actually CARL gene mutation. At first, doctor plan to prescribe him aspirin but before that doctor do another ris-co factor test and found that he is not suitable to take aspirin (the result is low and she afraid will cause internal bleeding). Due to his platelet is around 1200 and he is just 44 years old, he don't have any symptom of high blood pressure and heart attack issue so doctor categorized him as low risk category without prescribe any medicine for him. Doctor advise him drink at least 3 liters water per day, exercise and take more vegetables and meanwhile just observe and monitor his condition.

After i know he has this type of sickness, i very worried and cried everyday. I worried he will leave me anytime. We married 3 years and my baby just 1 year old. I felt very hopeless now. When i know that if more than 1500 doctor will give him oral chemo medicine, my heart very pain as he is not cancer patient why he need to take this medicine. A lots of why why why in my brain.I bought a lots of supplement (Shaklee product) for him to boost up his immune system and currently he also tried chinese herb to prevent stroke since there is no other medicine for him.

I found this community from internet when i tried to search the information to help him. Can anyone from here who has similar symptom and problem with my hubby can share your experience with me?

I need your advise for the following questions:-

a.) Is there any other method to prevent the platelet increase other than take oral chemo medicine?

b.) Can he still live as normal life span? As we actually plan to have second baby and i worried he will leave me any time.

c.) What is the item that i need to take precaution as he is under observation now?

d.) Will my son also suffer this sickness in future (CARL gene mutation)? How to prevent?

e.) Did anyone from here try to use chinese herbal to cure this sickness?

f.) Why gene will mutate? by food or environment? or born natural?

g.) How frequent you go to do the follow up blood test? 1 month or 3 months? will it raise suddenly within 1 or 2 weeks?

h.) Can he still travel as his job need to travel to China, Australia, and other Asia country. Is there any risk if he take flight?

Appreciate if you can help me.

Thank you very much.

Best Regards,

Joanne Tey

23 Replies

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  • Hi

    Welcome ot the forum, sorry to hear of your news, you are right that at first it does come as a shock.

    Im sure there will be lots of views to your questions but to try and answer them from what i know, I have a different 'flavour' of a MPN than your husband, i have PV which increases red blood cell count, my sister however does have the same as your husband.

    a.) Is there any other method to prevent the platelet increase other than take oral chemo medicine? - There is nothing to say the platelets will continue to increase - My sister was diagnosed about 13 years ago and her count has hovered around the 900 mark without chemo medication. There are other choices though if its decided medication is required, such as interferon, but all do have side effects, the chemo drug is a very low dose chemo.

    b.) Can he still live as normal life span? As we actually plan to have second baby and i worried he will leave me any time. - Yes definately - of course he has risks, but aslong as its monitored then there is every chance he can live a normal life span.

    c.) What is the item that i need to take precaution as he is under observation now? - I think aslong as he is under observation let the doctors do their work, its natural to worry but they have given good advice (plenty of water helps keep the blood think).

    d.) Will my son also suffer this sickness in future (CARL gene mutation)? How to prevent? - Its not a hereditary disease, there is nothing you can to to prevent it, but its very rare and highly unlikely that your son will contract later in life. There is some evidence that in very rare circumstances some families have a higher incidence (hence my sister and i) but no one else in our family has it , nor our parents/grandparents so try not to worry on this count.

    e.) Did anyone from here try to use chinese herbal to cure this sickness? - I havent, there are all sorts of 'natural' cures that are claimed but science hasnt proven any to work. Someone i have been in contact with had huge success from high dose vitamin C but i think its only a small percentage of people that have success with these regimes, if you do decide to give something a try please speak to your doctors before you do for help and guidance.

    f.) Why gene will mutate? by food or environment? or born natural? - There is some evidence that benzene can cause the conditon, there is a pocket of people in america who contracted it from a benzene leak but i beleive in the hgh majority of cases its usually down to natural mutation.

    g.) How frequent you go to do the follow up blood test? 1 month or 3 months? will it raise suddenly within 1 or 2 weeks? - I go every 3 months, my sister goes once a year so we are all different, your doctors will get it right for your husband, but its unlikely to be more than a few times a year.

    h.) Can he still travel as his job need to travel to China, Australia, and other Asia country. Is there any risk if he take flight? - Yes, once again speak to your doctors but people do fly, im off on a long haul flight in a couple of months and my sister regularly flies. I think the advice they gave about drinking plenty of water applies here more than anything, keep hydrated, if they are long flights get up and move about, he should be fine.

    Regarding the Aspirin, a lot of people here, including my sister, take a drug called clopidogril, this does the same sort of thing as Aspririn so it could be worth asking the doctors about this as an option.

    You have done the right thing joing here, you will have lots of concerns and worries, but there wil be lots of people here that can tell you they have had the condition for many many years and that its being monitored well and that they live full active lives.

    Hope this helps, im sure others will be able to add from their own experiences too.

    Paul

  • Thanks Paul, it is very useful knowledge for me.

  • Hi,

    Paul has answered all you questions so well. I know it's hard when first diagnosed, but try not to worry. I too take Clopedogrel as it is gentler on the stomach than aspirin. I was perscribed this after a major stomach bleed 4 years ago and I have had no problems since. I have also been taking Hydroxicarbamide for 2 years now with no side effects. This reduced my platelets from 900 to 350 in a few months.

    You will get lots of support on this site for you and your husband. I'm sure when Maz reads your post she will be able to send you some leaflets. Also check out mpnvoice.org.

    Best wishes

    Judy

  • Thank Judy. Can i check with you is Clopedogrel same function as aspirin to dilute the blood thickness? Do you suffer any hair loss or headache side effect after took Hydroxicarbamide? I saw the information from internet, there is a chance to change to leukemia after take this type of medicine. That's is why i m so worried for it.

  • Hi,

    Yes clopidogrel has the same function as aspirin. The nurses at my hospital call it 'posh aspirin'. I have no side effects at all from the Hydroxicarbamide. I realise I am lucky and it doesn't suit everyone. It's a case of try it and see. I take 500 Mls 6 days per week. I was very worried before I started it and held off for about 7 years and just has venesections. I am 61 now and as the risk of stroke increases with age I had to weigh up hydroxy versus stroke and decided at age 59 that now was the right time to start it. Yes there is a risk of mutation to leukaemia but this risk is there with any MPN not just from taking the drug. Many people on the site have been taking Hydroxy for many years - 30 and more. It is also perscribed to children with sickle cell disease. You are doing the right thing in gathering all the information you can.

    Hope this helps.

    Judy

  • Thanks judy.

  • Sorry, it's still under mpdvoice.org.uk

  • Hello Joanne, I can see you have been given some very good advice from Paul and Judy, and as Judy says, I would urge you to read the information we have on our website mpdvoice.org.uk, we have lots of very useful information on there about all aspects of MPNs. I can also post you some of our information booklets on ET and all the different medications that are used to treat it, I am happy to post them to you in Singapore, please email your address to me at maz.cd@mpnvoice.org.uk, or send it in a private message on this site, please do not put your address on this post. We can all understand how you and your husband are feeling right now, it is a very scary time when you are diagnosed, and just as daunting for our partners and family and friends, if you feel your husband would benefit from talking to another person with a MPN I can put him in touch with a 'buddy', our buddy programme works very well in that the person with a MPN gets help, advice and support from someone who really understands what it is like to live with a MPN, and if you feel you would like to have someone to give you help and advice I can also put you in touch with a buddy, just let me know by email and I can send you all the information.

    I hope all this helps you and your husband.

    Best wishes, Maz

  • Hi Maz,

    I need all the information for ET. I will send you an email later. Appreaciate your help.

  • Hi there. I have ET, JAK 2 negative. I was diagnosed 4 or 5 years ago. I have been taking hydroxycarbamide (chemotherapy) for a couple of years. I had a few side effect at first, but they mostly faded away and I've got used to the others.

    It is very scary when you are first diagnosed, even more so when you start on the chemotherapy drug, but I have found a great deal of information on this site which put my mind at ease.

    I take 2 x 500 mg per day Monday to Friday and 3 x 500 mg on Saturday and Sunday. I also take an aspirin each day. I try to eat healthily.

    Don't believe everything you read about the chemo drug, it is extremely unlikely that your husband would develop every side effect, each person who takes it reacts differently.

    My hair is a little thinner than it was, but could be worse.

    I intend to live a long time - mainly to annoy my husband and children!

    Best Wishes

    Lizzie

  • Thanks for ur encourage.

  • Hi, I have ET and am Jak2 positive and take the chemo drug you are worried about. I can't add much to what the others have already said, other than to say they are all right. It takes a while to get your head around this but knowledge about the condition helps enormously and you will find everything you need to know on here and the MPD website. This is a great place for support and I hope it helps you and your husband as much as it has helped me.

  • Thanks for ur replied.

  • Hi Joanne - I was 46 when first diagnosed and have lived very easily with ET for the last 13 years - I am CALR positive (which my haem tells me is good as it's the slowest advancing from of ET with lowest long term risks).

    I have regular hospital check ups but no symptoms or problems, so my life has been very normal. My platelets are about 1100 at the moment and I'll be 60 next year so it looks like I will start treatment soon with Hydroxycarbamide - it is chemo but very low dose and many people take it for many years with few side effects so I am not too worried - the only thing to consider is if you plan more children, in which case another treatment such as interferon alpha might be more suitable.

    It is very scary when you are first diagnosed but actually life quality and span are normal for most people with ET and after a while you learn to live with it.

    This forum and the MPN Voice website are wonderful resources and means of support so do use them. MPN Voice also have a buddy programme so could match your husband up with somebody if he wanted to talk to someone who has already experienced what he is now going through.

    All the best

    Andy

  • Hi,

    i would like to.check with u that have ur platelet been gone up or came down for

    the last 13 years. Do u think it is a problem if the platelet count stay high like my hubby ~1200 and without any medication now.

  • Hi Joanne - my platelets were 600 when first diagnosed and have gradually risen to now be about 1100. Only aspirin for me so far (but there are alternatives if he can't take that) I suspect they will keep an eye on his counts and if they rise (1500 seems to be a trigger for younger people) maybe start treatment. Hope that helps. Andy

  • Thanks for ur information. Hopefully he no need to take oral chemo as we wish to have another baby.

  • Hi Andy,

    My hubby went to do blood test last Saturday and the platelet drop to 1190 and the previous result is 1206. Drop 16 point. Is it a good news? At least it did not raise to higher point.

  • Hi Joanne - good news. I guess 16 points isn't much of a difference but I'm always happy to go down or stay the same not go up - a stable count is good...

  • yup, is better than go up. I wonder is it due to the chinese herb as he took it for 2 weeks.

  • Your platelet count can go up when you are fighting some kind of illness. All the way up to 1200 is a lot though. Use Google to find foods that inhibit platelet production. Study the CARL mutation to find out how it causes extra platelets to be made.

    I have JAK2 mutation, which causes a hormone ("TPO" - thrombopoietin) to be not so sticky to the platelets and their mother cells, the megakaryocytes. TPO helps to cause the baby ("stem") cells in our bone marrow to decide what to turn into. They are designed to become producers of blood cells; whether red, white, or platelets depends on what hormones trigger them - TPO triggers platelet producers, called megakaryocytes. Platelets are supposed to grab the TPO and hold it, and I *think* they don't hold it tightly enough. Therefore, the same TPO goes and causes more platelet producers to be made.

    So I have been looking for ways to make my body produce less TPO. Our livers make a lot of it, so I might take to drinking alcohol, as that can impair liver function... silly, kind of, but doing nothing is even sillier. Alcohol, I heard somewhere, also tends to make our blood "slippery" which helps to prevent clots, the danger behind ET, including strokes.

    The Internet is a great tool for research, but you have to be able to read a claim and understand it without believing it. Then you can check it out to see if it applies to you (or your hubby). Remember, every human body is different.

    Strenuous exercise tends to cause "microdamage" to our tissues. Our bodies use platelets to fix that damage, so for people with too many platelets, strenuous exercise is a good idea. On the other hand, all changes are better for us if we make them gradually, so if he is going to start doing lots of exercise, suggest easing into it and taking a break when he feels like it.

    Mutations can be passed down, but there are other mechanisms that tend to reverse them when they are problematic (see dominant/recessive genes, for example). Your own genes may have solved the problem for you son, but you'd have to get him tested to know for sure. It's a good idea to get typical measurements every now and then (like platelet count, etc.), and that will detect a too-high or steadily increasing platelet count. That's how they found my JAK2 mutation.

  • Thanks for ur advise.

  • What a bad news for me today. My hubby went to do blood test today and the platelet increase 7 point. Become 1197 from 1190. I wonder this result is consider stable or turn to bad as his reading is 1160 (01 Aug), 1199 ( 10 Aug), 1242 ( 11 Aug), 1206 ( 15 Aug), 1190 (26 Sep), 1197 ( 5 Dec). I thgt it will drop gradually but increase 7 point. Is there anybody can answer my question?

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