TOPIC:

Our son was diagnosed with a compound heterozygous MYH9 mutation after they found abnormally low, but large platelets during a routine blood screen test at 9 months old.

He's been asymptomatic for the past six years other than mild bruising every now and then ( never bleeding or clotting issues even though he's had falls/broken arm etc). He also has some high tone hearing loss and wears hearing aids as a result.

I'd love to hear from anyone that has a child with a MYH9 disorder,not ITP (if any exist in this forum).

My son is now 6 years old and we're struggling with whether it's appropriate for him to play contact sports such as soccer and baseball ( never football, lacrosse, rugby). His platelets are large and well functioning but in the <20K range consistently. I don't want to deny him his desire to play with his friends if he has never had a bleeding issue.

We're also concerned about the probability of his disorder causing progressive hearing loss, cataracts, or kidney issues.

Would love to hear from somebody that has or is a parent of a child with a MYH9 disorder.

Thank you in advance,

Allison

You obviously have very thorough doctors. Most cases of genetic thrombocytopenia get wrongly diagnosed as ITP. There have been several children here who appear to have a familial thrombocytopenia but I don't know whether they have had MYH9 ruled out or even looked for. Hopefully they will step in and reply.

There is a register for these sorts of thrombocytopenia. They tend to call them familial as there is usually more than one family member with it but that doesn't have to be the case as it has to start somewhere.

ukitpregistry.com/TheRegistries/Familial/FamilialITPRegistry.html

Your son's platelet count is lower than usual for this disorder. Has it been manually counted as the machines aren't good at counting large platelets? But let's hope his count rises a bit in the coming years.

My daughter has myh9. Her levels have been really low, last draw last week was 1000. They think something else is going on. They said that her levels are too low for myh9.

For sure no contact sports. We are in the process of finding a Dr with answers. Our current one just keeps pushing us away. I would love to chat more!

My daughter is 6 as well.

My husband has the Myh9 disorder. Very rare! There is not much out there. He is now 43. Was diganosed when he was 5 and with hearing loss at later age. His family had no clue what was to expect. At 19 he went in to kidney failure. Had a transplant. We was told he had Alports. They where so curious about his case did genetic tests to come to find out his was a spontaneous gene mutation on R702C.. Myh9. His platlets are macrothrombcytpenia they are low but large. We have 2 children son will be 18 daughter will be 16. No signs of anything I'm hoping they did jot get his bad gene. It's very frustrating with this disorder because they are not very many out there with this and doctors look at me like I'm crazy. I'm hoping someday they find more about this..

I'll 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...

Wow i posted back in September about my son having myh9 and didn't get all these responses. My son has the more serve mutation of myh9. He was diagnosed with itp in 2010 at 3 years old. Last year in june at the age of 8 he was finally diagnosed with myh9. He has thrombocytopenia and no treatment that works for itp works for him. He also has high frequency hearing loss and some other weird issues. Anyone else that has a child with myh9 please contact me via email! Believefate7@gmail.com we've never met, known, or talked to anyone else and as you know it's lonely. Please contact us!!!!

Hallo all,
my son has MYH9 too. He is sweet 8 weeks old.
Now I started creating a website to collect all information. Especially from parents and MYH9-patients.
Are you interested in joining me?
If you send me an mail with your story and/or your information about MYH9, I will publish it there.

The website is: www.myh9.jimdo.com/
E-Mail: myh9@gmx.de

Thanks
Linda

HI I have Myh9 and so my son who is 6 years old we had test done when he was born, knowing he might has 50/50 having it or not. His platelet count was when he was born was 68. And now number have drop to 12. I had kidney transplant 2001 and has hearing lost and low platelet, and many more health problems but. I would love to talk with you about Myh9. Annie