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myh9 8 years 2 months ago #43656

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Hello Everyone! My name is Brittney and my son is Kalvin. He was diagnosed with ITP at the age of 3, over 5 years ago. As of June 2014 he was diagnosed with a rare genetic mutation called myh9. I'm just curious if anyone else's child or self has been diagnosed with this? Through my research I've found that there are only approximately 200 or so people that have been diagnosed with this mutation. It use to go by other names such as Sebastian syndrome, Fechtner syndrome. They have now combined them into one and call it myh9. It has been a very lonely road just dealing with my son having chronic ITP but now we have this new rare genetic mutation and feel more alone the ITP diagnoses. The past 6 months I've actually been able to talk to a few parents who have children with chronic itp so that's been nice. Now we are dealing with myh9 which is the cause of his ITP. If anyone else has a child or you yourself has been diagnosed with this please contact me! I haven't even found any info on PDSA about myh9 which I find odd. Anyway thank you for reading and we hope to connect with at least one person!

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myh9 8 years 2 months ago #43660

  • Sandi
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Hi. MYH9 is mentioned on this page of the PDSA.

pdsa.org/resources/other-platelet-disorders.html

I suspect that there are some children who are not properly diagnosed and are simply given the diagnosis "ITP", which can account for the absence of others with other platelet disorders. How did your son end up being diagnosed with it?

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myh9 8 years 2 months ago #43697

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Hi Sandy! My son was diagnosed after 5 years of me "fighting" with 3 different hemotoligist. I kept telling them something more was wrong since day one but they didn't want to believe me. To them was the crazy over protective mom.we finally found an amazing hemotoligist who listened to not only my concerns but my sons as well.she had me tell kalvins journey pretty much from conception to present day. Went back on all of his medical history which was itp and partial hearing loss. She said she wanted to run a few test and one was a genetic test called myh9. No more then a month later she called me to confirm that it did infact come back positive. I feel he got this diagnoses due to me fighting for what my instinct told me and not just sticking to one or two opinions. I'm still fighting for him now over a new matter. Some doctors just don't care or feel that they have "seen worse" so our kids that dont exactly look sick dont get treated properly. I will not put up with those types of doctors no longer. This is my sons life and health and to me everything is serious. I had a hemotoligist tell me "well even if it was leukemia thats 98% curable these days." Really!? What kind of doctor says that to a mother? A horrible one and I'm done with those. My son will no longer sit on the back burner! Anyway we couldn't be more thankful for the hemotoligist he has now. The one that actually listened to us and put the pieces together. More children may have it and not be diagnosed with it so I hope their parents find the power to fight for their children as well. We are our children's best advocates. We have to be the ones to push and be proactive. We cant just sit back and have them tell us nothings wrong or lets take out an organ that may or may not be the solution. So until then we are all alone in this myh9 journey unfortunately :-(

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myh9 8 years 2 months ago #43703

  • Sandi
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Good for you! It's a shame that everything has to be a fight. Hearing loss is one of the hall mark signs that it's not just ITP; you'd think someone would have looked further at that.

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myh9 8 years 2 months ago #43707

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Thank You Sandy! I agree it is a shame that everything has to be a fight. Right now I'm trying to get his pediatricians office to just send in a cbc to our lab but for some reason the medical assistant just isn't understanding. If she would just talk to my sons pediatrician everything would go smoothly. We are only getting cbcs every 6 months so we don't have a standing order but he is having excessive nose bleeds and I would like it checked. Not so hard to understand dang it! Thanks for replying to me!

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myh9 8 years 2 months ago #43712

  • Sandi
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Your son can't go wrong having you for his mom. :) Good luck with the CBC. Try not to get too many gray hairs!

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myh9 8 years 2 months ago #43724

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I didn't want to just read and run so here I am but probably saying not very much.

I would however say that in your first post you say that myh9 is the cause of his ITP, while in fact if he has myh9 he doesn't have ITP at all. It's good that you found a doctor who could distinguish between the two.

Good luck to you and your son.

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myh9 8 years 2 months ago #43725

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Haha thank you Sandi! They're starting to rear their ugly grey heads unfortunately. It's worth it! No news on the cbc yet so I guess no news is good news, usually.

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myh9 8 years 2 months ago #43726

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Ann I know idiopathic mean unknown cause so i don't know what else to call it. His hemotoligist still calls it itp. I guess we should justsay "low platelets" instead. I'm pretty sure no one will get upset by me saying he has itp. Anyway more people know what itp is vs myh9. I have yet to talk to anyone who knows what myh9. Even his plethora of specialist step out of the room to look it up. Amyway we'll see what his hemotoligist says in November. We haven't actually seen her since his diagnoses.

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myh9 8 years 2 months ago #43736

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My worry with calling it ITP when it isn't is not that someone will be upset but that some doctor somewhere along the line may then treat for ITP which will be the wrong treatment. The I stands for Immune because it is antibodies causing the low counts and many of the treatments aim at stemming the antibodies, which of course your son doesn't have. But as you say, your doctor is on the ball it is of no concern just now.

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myh9 8 years 2 months ago #43737

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I understand. I dont know how all the sudden people seem to know about myh9. Just reading the few articles available or from my description. A lot of people are giving me grief for saying he has itp still. I know the only treatment to save my sons life is a platelet transfusion. He knows this as well. He will be getting a bracelet soon but not before I can talk with his hemotoligist to finalize what to put on it. So my son has myh9 with thrombocytopenia. It's definitely a change after being told for over 5 years that he has itp. Which the I can stand for idiopathic or immune. Either way... we're still alone. The point of the post was to try and find someone else with myh9 and not be corrected on my terminology. I understand why you might be doing that but when it comes down to it he has a low platelet count so people who have itp understand that much. I dont think this post will get us what we are looking for after all unfortunately. I don't even know if pdsa is of any help either. I honestly just dont know what to do from here. It's very frustrating to be amongst only 200 people of the same kind.

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myh9 8 years 2 months ago #43741

  • Sandi
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I have a suggestion. It might be more than you are able to take on, but why not start your own support forum or blog about myh9? You might be able to hook up with other parents in the same situation. Although the PDSA does include other platelet disorders in the scope of their missions, the support for it just isn't here on the Forum. I've seen a few kids over the years with the myh9 gene, but they are not here very often and usually don't stay.

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myh9 8 years 2 months ago #43745

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The best way to describe Kalvin's condition is to say he has Thrombocytopenia (low platelets), which many medical providers would understand from their school days or involvement treating patients who have low platelets from a variety of factors, including ITP or cancer treatments.

Since there are not many people with myh9, I would suggest checking out www.bensfriends.org / they specialize in assisting caregivers and rare disease patients with creating a space online to discuss their condition. I think you will find this extremely beneficial.


The reason why a lot of ITP patients and caregivers are correcting you for saying Kalvin has ITP is due to his connection with myh9. ITP is an autoimmune disease which has no direct correlation to any genetic factors. It is not hereditary and there are numerous other conditions that cause low platelets besides ITP. Each of those conditions come with their own standard of care, so it is important as your son's advocate to educate yourself as much as possible on myh9 and be his voice to his healthcare providers. Since he is young, he would generally need vaccines, things that ITP patients cannot have more often than not. Perhaps because he has myh9 he can still have vaccines which will keep him protected against some pretty nasty illnesses. That is just an example, but hopefully you get the idea.
FSU Alum, using the unconquered spirit to beat ITP.

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myh9 8 years 2 months ago #43802

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Based on experiences a couple of years ago with a friend who had an exceedingly rare cancer, you often have to look very hard to find others with it. He found a couple of resource for rare diseases that you may have already come across, but just in case, here they are:

The National Organization for Rare Disorders: www.rarediseases.org/
Genetics Home Reference on myh9: ghr.nlm.nih.gov/condition/myh9-related-disorder
Genetics and Rare Diseases Info Center: rarediseases.info.nih.gov/gard
Genetic and Rare Disease Info Center (at the Nat'l Human Genome Research Center): www.genome.gov/10000409

I'll have to dig through my reference materials to see if there are others. I hope you can find the help and support you need.

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myh9 8 years 2 months ago #43808

  • Sandi
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Someone else shared this site in another thread. This might help too.

www.patientslikeme.com/

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myh9 8 years 2 months ago #43827

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Brittney, you wrote, "I know the only treatment to save my sons life is a platelet transfusion."

I thought of you when I stumbled on this article:

www.bloodjournal.org/content/116/26/5832?sso-checked=true
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations

The study showed a high rate of success using Promacta (eltrombopag) to increase platelets in adults with MYH9 disorder.
The following user(s) said Thank You: teamkalvin2006

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myh9 8 years 2 months ago #43828

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Also, FYI a study which Sandi posted elsewhere showed that, "These agents appear safe, effective, and tolerable in children with chronic ITP."

www.ncbi.nlm.nih.gov/pubmed/24857517

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myh9 8 years 2 months ago #43829

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Thank you for the info Rob! I will definitely talk to Kalvin's hematologist about this finding when we see her in November!

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myh9 8 years 2 months ago #43830

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Thank You Aoi and Sandi as well for all the additional information! I will most definetly be checking it all out. I appreciate you all reaching out to me with any and all information. It means a lot to me.
Yes "LadyNole" I understand what you are saying about thrombocytopenia. It doesn't help when all of his doctors are still calling it ITP. Of course I am educating myself on my sons genetic mutation. I wouldn't be here if I wasn't trying my best to educate myself on something so unknown to most. We are looking into the vaccination situation right now. Kalvin's hematologist and pediatrician are very good doctors and I do not doubt their ability to treat my son. I've fought to come this far in his diagnoses and I do not intend on stopping. Not all parents would fight for everything I have over 5 years. There will NEVER be a better advocate for my son then ME! I've known this since he was first initially diagnosed with itp. There are a lot more things to be aware of then if he did have itp. I'm just looking for all the advice and connections and possibly someone who can relate. That's why I came to pdsa forums and posted my initial post.

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myh9 8 years 2 months ago #43836

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Well, at least you're not empty-handed. There were a few helpful things given. Wish we could have done more. :(

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myh9 8 years 2 months ago #43873

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Yes "LadyNole" I understand what you are saying about thrombocytopenia. It doesn't help when all of his doctors are still calling it ITP. Of course I am educating myself on my sons genetic mutation. I wouldn't be here if I wasn't trying my best to educate myself on something so unknown to most. We are looking into the vaccination situation right now. Kalvin's hematologist and pediatrician are very good doctors and I do not doubt their ability to treat my son. I've fought to come this far in his diagnoses and I do not intend on stopping. Not all parents would fight for everything I have over 5 years. There will NEVER be a better advocate for my son then ME! I've known this since he was first initially diagnosed with itp. There are a lot more things to be aware of then if he did have itp. I'm just looking for all the advice and connections and possibly someone who can relate. That's why I came to pdsa forums and posted my initial post.



I see to have struck a nerve. I know you have raised issues on multiple points of the internet about this. Everyone is simply offering you advice and assistance for your son. I do hope you take some of the tips you've gather here and on Facebook to find information on MYH9. Good luck to you.
FSU Alum, using the unconquered spirit to beat ITP.

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myh9 8 years 2 months ago #43875

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Well when talking about our own children things can be taken offensively a little easier. I have been very thankful for the positive inputand advice that has been given to me. Everyone is not ssimply ttying to give me information just so you know. You have no idea what private messages I've received. Yes I do express my concerns on "multiple points of the internet", two to be exact. Not that this should be a concern. We turn to the internet in 2014 to reach out for help or vent. I never came here to find advice on information for myh9 I came here to simply try to connect with another parent or adult who has myh9. Since you have itp yourself you know what an emotional rollercoaster it is. Imagine yourself in my shoes. Of course it's going to be easy to take things offensively, this is my young child.
if I haven't said it enough I'll say it again, Thank you to EVERYONE for the great advice, websites, and possible connections to someone who might understand what we're going through. I appreciate it all very much! I have and will use the resources.

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myh9 7 years 8 months ago #47116

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try and keep this short and sweet. The nightmare began almost 5 years ago. Get to the hospital.. 5,000 platelets. A bone marrow biopsy and winro and normal platelets for a year until it reared its ugly head again. My daughter luckily has great responses to treatments. In fact her platelets go up into the 400,000's anyway... Than we got the myh9 diagnosis???? What??? These people don't have responses to Itp treatments.. Also my daughter was born with normal amounts of platelets.. Texted twice for other reasons. And also not large in size.. Sooo.. A few months of her being a science experiment and BOOM I also have myh9 with NORMAL platelets and never a problem... So you could say my confusion is beyond me.. You aren't alone :-) but I'm curious if your child responds to treatment? My daughter does but her platelets seem to be getting higher and higher but she does drop if she gets sick.. I think I'm going to have us both retested because we don't have what you need to be diagnosed. Just the mutation... Best wishes :-)

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