I’m so relieved to find this support site! My daughter was diagnosed with ET , Jak2+ Last September at age 15. Her platelet range is the 800,000’s and have gone as high as 1.25 million. She is on 81mg aspirin daily and one Dr. initially wanted to put her on hydroxyurea and we declined and sought a second opinion which recommended aspirin only. She has a lot of neck and back pain and tired frequently. Is this normal? Does this condition also affect the RH FACTOR? As this test result just came back abnormal as well. Is there anyone out there that is experiencing the same symptoms? If so, any recommendations to help allevytbe pain?
Thank you!!
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Piperpeeps
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Hello and welcome to the forum. Glad you found your way here.
Pediatric MPNs are very rare but they do occur. One of the most important things to do is to consult with a MPN Specialist. Most hematologists do not have the KSAs to provide optimal MPN care. This is especially true for pediatric MPNs. There are a small handful of docs with expertise in pediatric MPNs. Here are two lists of MPN Specialists.
The opinion of the second hematologist for aspirin-only would be the standard treatment protocol for any younger patient in the absence of a thrombotic or hemorrhagic incident. It is actually the latter that is the greater risk when the platelets get towards/above 1 million. There is also a risk of microvascular events. Aspirin is usually effective for both thrombosis risk and microvascular symptoms.
Fatigue is the single most common constitutional symptom of MPNs. The JAK2 mutation does more than make the body make too many blood cells. It also causes the body to make too many inflammatory cytokines. This is thought to case many of the secondary symptoms we experience. At the core, MPNs are inflammatory disorders. Controlling systemic inflammation is a key component of managing MPN symptoms. I have joint pain throughout my body, including back/neck. I have found some effective ways to manage this (diet, curcumin, QIgong, massage therapy).
It is important to learn the basics of what is going on with MPNs and how to manage them.
Your daughter can anticipate a long time to learn to manage the ET. There can be some challenges, but they can be managed. I was diagnosed with ET about 30 years ago. It progressed to PV about 8 years ago. I have lead a rich life and at age 66 continue to do so. Your daughter should plan to do the same.
Hi Piperpeeps, I’m so sorry to hear that your daughter has been diagnosed with ET at such a young age; however, it is not unheard of.
I have posted a link below to MPN Voice, which has a blog ran by Alice (who is young herself) and is dedicated to young people with MPNs. I hope you and your daughter will find this helpful.
Hello and welcome - a whirlwind of anxiety for you will one day become less overwhelming. I have buckets of sympathy! My son was diagnosed with MF (CAL R 1) 6 years ago at age 19. Initially he was misdiagnosed with ET and prescribed aspirin, but when his care was taken over by a superb MPN specialist, he was correctly diagnosed and stopped the aspirin. He’s had superb care and attention, currently takes no medication, is carefully monitored and has been well supported. He is well and leads a normal young adult life. I wonder where you are based and what services you and your daughter can link in to? Do look after yourself - the future is bright.
How did doctor find out that your son had NOT ET? Did he had a bone marrow biopsy when ET was suspected or the diagnosis of ET was based only on blood counts?? Also why did he stop aspirin when his MF diagnosis was confirmed?
Hi, must have been a shock for you with this diagnosis, as was for us all. Good you found this site, as you will have seen there are many here with really good helpful (for coping) and sound medical help. Hopefully she will find the answers and specialists to give her a good results. I have this diagnosis and live a totally "normal" and good life, here's to that for you all.
Oh bless her. Devastating for the family too. I have no idea about treatment for someone so young but I do think seeing an MPN specialist is important.
Hello. I was also diagnosed with ET the day after my 21st birthday. I’ve been writing a blog about young people for MPN Voice, which tries to answer some FAQs and also shares my patient story (I’ve similarly experienced head and neck pain). I’d echo everyone’s responses about trying to see an MPN specialist if possible, and please do let me know if your daughter would ever like to chat as I’d be more than happy to share experiences as a fellow young ET patient. Best wishes, Alice
Hello Piperpeeps,I am so sorry that you find yourself here, but there really is no better place for the many questions that you have and will have over the coming decades. The most important thing to note is that MPN’s are not a life sentence and most of us lead perfectly normal lives albeit a little tired. I can only echo all the advice that you have been given by Hunter and the rest of the lovely folk here.
A really good MPN specialist is a must. Do have a look at Hunter’s lists. Hydroxyurea is a very toxic drug. Whilst it is the first MPN choice of most doctors, that is generally because it is cheap. It does reduce platelets and some people have no side effects, but it would be unusual to treat such a young patient with it. Generally only people in the high risk category are prescribed it. They are usually over the age of 65, or have had a TIA or some other thrombotic incident. The norm would be aspirin.
I wish your daughter all the luck in the world and again, please make an appointment with a good MPN specialist.
Just because you will have seen a haematologist, does not make them an MPN specialist and this is vital, especially with someone so young.
Hi Piper! As others have mentioned, it is imperative to find an MPN specialist, not just a standard hematologist that has treated some MPNs in the past. An MPN specialist will require a bone marrow biopsy for a complete diagnosis to determine most effective treatment. I'm sorry your daughter has been diagnosed at such a young age. Even though these diseases typically are manageable, it is still hard to wrap your head around such a diagnosis. I find this group invaluable for information.
Thank you all so much for the wonderful welcome and support! I will definitely check out the links. So far, we have met with two local hematologists (we reside in Florida and neither are pediatric MPN specialists) and a telemed with a pediatric MPN specialist in New York. I plan to consult the MPN specialist twice annually in addition to our local hematologist. Thankfully, all of her bloodwork in within range with the exception of platelets (last count was 864,000). And her RA factor was 21. I’m a bit concerned about her taking the aspirin long term. The local doctor is recommending a second bone marrow biopsy. She had her first in September 2020. How often should this be completed? Are their any potential long term risks for multiple bone marrow biopsies?
Glad to hear the support you are getting here on the forum is helping. We really are stronger together.
Hopefully your daughter will also be joining the forum when she is ready. My daughter is also a member of this forum (she is JAK2+ with ET). If she is interested, Alice_22s blog and offer for contact would be a really good thing for her to consider. Young folks with MPNs do face their own unique issues.
The plan to consult with a pediatric MPN Specialist twice a year is an excellent one. This is precisely what I do. I see an adult MPN Specialist at John's Hopkins. He consults and advises me and my local hematologist regarding my MPN care. My local hematologist, who is a wonderful doctor, implements the plan and provides additional insight.
I am not sure why the one doc is recommending a repeat BMB. This would normally only be done if there was change in disease status. That is, unless there was a problem with getting results from the first BMB. I would be sure to ask for a clear explanation of why this is being recommended. The risks of a second BMB should be essentially the same as the first. mayoclinic.org/tests-proced... . The main issue would be why go through the discomfort of this procedure unless there is a compelling reason to do so. I would also suggest that your daughter is old enough to be the one who ultimately makes the decision with your support of course.
Hi. I also have ET ( moving to PV starting phlebotomy) and was diagnosed last year. After my diagnosis and seeing the list of symptoms I had my 19 yr old tested and she is also Jake2+ with ET.
We was experiencing headaches and a very sore neck, described as lingering whiplash by her).
We are both doing very well.
We both take our 81mg aspirin .
We immediately switched to an MPN specialist as this incredible group of people suggested.
It was explained to us that our body has the secret ability to make blood clots BUT now that we know we can adjust and live accordingly.
We are both very healthy in every other way ( we think 🤪) and are looking forward to long and healthy lives.
Glad to hear that you are both doing well. Welcome to an even more exclusive club - Familial MPNs. We are a smaller subset of the larger (but still highly exclusive) MPN Club. My daughter is also a member of the club. She seems to be following the same course of the MPN that I did. Diagnosed with ET in 30's. I progressed to PV in my late 50s. She may be moving in the same direction.
Here is a bit of info on Familial MPNs. NOTE: We both did the 23&Me genetic test and both tested positive for the JAK2 haplotype.
Thanks for the info. I was only diagnosed last year at 52 years but likely had it for over 15 years. Platelets were elevated after my third child was born, he just turned 16. Really only the headaches and itchy skin for me but my daughter had headaches and neck pain. Our doctors so far have been very caring and helpful. Dropped the first hematologist after both BMB as she was very stressing. The new gal has been amazing and we are all learning how this will effect us individually.
I come from a very large family and we are the first ones to have such health issues. You never know what lerking in our family history. Daughter is attending University in another province ( Canadian ) but we both have the same doctors for ease on both of us. Interestingly watching the Besremi roll out, it could really help these young ones.
Interesting things lurk in our genetic trees. Others on the forum have mentioned finding out about probable MPNs in other family members that went unrecognized for what they were. I expect there may be others in my family with MPNs that we do not know about. Of interest. my son has idiopathic erythrocytosis with no JAK2 mutation. All three of us also have the NF1 mutation, which causes another condition called neurofibromatosis Type 1. It is relevant because NF1 is a non-driver mutation for MPNs. Genetics really does matter.
Hi, I’m sorry to hear about your daughter but glad she has you to advocate for her.Iif you don’t mind my asking, where in Florida are you? I’m in Sarasota & see an excellent MPN specialist at Moffitt hospital in Tampa. They have many, perhaps one is pediatric. I also don’t understand the desire for a second BMB except in cases Hunter mentioned. I had my first & only BMB at MDAnderson in Texas & since then my doctors at Moffitt & also in WI asked for, and received, enough of a sample from MDAnderson that they could do their own assessment. If your daughter does get another BMB, and you’re near Tampa, I’m told Moffitt does them with twilight sleep so they aren’t unpleasant. Best of luck.
Hi! Thank you so much for the reply. We live in Orlando, a few minutes from Disney. The local hematologist (we have since changed dr.s) that did the original biopsy told us that it needed to be performed annually. However, the MPN specialist stated every two - three years. Which seems like a lot, given the pain she was in after the first one. When she had the initial bmb, I asked her previous local hematologist to send it to the MPN specialist in New York because she wanted her lab to review. Unfortunately, he never sent the sample to her. I’ll confirm with the specialist regardIng why we need another so soon.
My MPN specialist at Moffitt says BMB only need to be repeated if labs change a lot or symptoms. But if there’s no sample for a specialist to assess that may be why. Moffitt is an easy drive from Orlando area and extremely well regarded MPM doctors if you decide to go there. Hopefully the sample is saved & they can send some to an expert. My BMB wasn’t at Moffitt & really hurt but a few patients on here say doing it at Moffit was good. Please let us know if there’s anyway we can help you. And be sure to take care of yourself too.
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Yearly appointment to my Haem, ET with CALR postive
Doctor visits/year average with ET?
