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Wow! Looks like I won the Rare Disease lottery too!!! (Read 8274 times)
mikev
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Re: Wow! Looks like I won the Rare Disease lottery too!!!
Reply #15 - 12/18/11 at 11:31:41
 
Phrye:
Our main difference is I have only had a small rash 2 times in 6 years. The rest of the time mine is completely internal. That's why my doc diagnosises me the way he does. The other problem is some insurance company's that are oblivious call cuteanous masto a dermiological disease & don't want to pay. There are a few like me out there & that's why mine took so long to diagnose, no overt symptoms just lots of skin pain, although the worst part my feet flush all the time, but I don't even flush anywhere else.
MikeV
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Kupcakemastogirl
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Re: Wow! Looks like I won the Rare Disease lottery too!!!
Reply #16 - 02/04/12 at 10:48:16
 
hi phyre, wow i didnt know that you can get any form of mastocytosis at any age. i was born with sytemic mastocytosis. alot of the times i feel so alien-like due to my spots... well anyway thank you for teaching me something new and take care of yourself
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Lisa
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Re: Wow! Looks like I won the Rare Disease lottery too!!!
Reply #17 - 02/05/12 at 10:23:46
 
Kupcake,

Masto is a genetic defect.  Some of us are born with it, like you were, and some of us have the defect, but it takes YEARS for it to show up.   In looking back, I can see where I most likely had signs of it as a child for I never did well in the heat and had heat stroke as a 4 year old child.  But my masto began showing it's face when I was in my 30s with some odd reactions, but only came out of hiding when I was 46.   Yet, my children are now showing it and my youngest at 14 has a higher tryptase than I do.  He goes through anaphyalxis too.  But he has no spots whatsoever and we only figured it out because of my disease.  We had to go hunting for it.

So, yes, we can get it at any age, but in reality, the defect on the mast cell is there, it's really a matter of genetics as to when it comes out of hiding.


Lisa
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phyre
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Re: Wow! Looks like I won the Rare Disease lottery too!!!
Reply #18 - 02/05/12 at 17:25:07
 
Honestly, I am very confused about how you get Mastocytosis.  I will ask my hemo/oncologist when I see him next week.  I thought that you had to have certain mutated genes to get mastocytosis.  According to this article, they are still trying to figure out which genes those are:  http://my.clevelandclinic.org/disorders/mastocytosis/hic_mastocytosis.aspx

So my questions are, does the mutation occure before or after you are conceived?  I guess no one can really answer that question since they don't even know what genes they are.
Why is it rarely seen in families?  

Oh well, it is an orphan disease.  There aren't enough people diagnosed with it for extensive research to be done.  They would have to either find a more effective way to diagnose people accurately, or have another reason to research it.  (Another reason, like if researchers realized that studying the disease could help them solve some other profitable mystery.)
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Lisa
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Re: Wow! Looks like I won the Rare Disease lottery too!!!
Reply #19 - 02/06/12 at 01:23:19
 
Phyre,

Mastocytosis is a genetic defect of the mast cells.   All forms are.  They are indeed trying to pin down how and where and it appears from research that there is more than one defect and that depending upon the form of MC disorder you have, be it SM, MMAS or MCAS that this will affect the way your masto presents itself.   This may be why it is seen mainly in children and why most children will have a spontaneous regression of their masto in their mid teens.   This would also explain why others of us have our masto come out of hiding in our middle years, and why others have SM and CM versus MCAS.  

How we get it is genetically inherited, but in my conversations with some researchers, they donīt understand why although many may carry the genetic tendancy towards this, only few actually develop it.  There is so very much that is not understood and so much more to learn and uncover that it will take many, many years trying to unravel all of the mysteries!

Now, stepping away from general research and looking at what some researchers at Harvard are considering in studying my family and other families with aortic aneurysms and masto, they suspect that yes, we are born with the defect and our children CAN inherited (not will) it.     I say can and not will because the rules of genetics is that you have a 50% chance of inherting anything from your parents.   If you inherit it then youīve got a 50% chance of developing it.  This is how genetics work.    However, my family seemed to break this rule.  My entire family, that of my siblings and cousins, father and aunt, have aortic aneurysms.   This is highly unusual.  I am the only diagnosed case of masto amongst us.  However, these researchers believe that my mast cell disorder, being genetic, is not belonging to only me and that my entire family has the defect as well.  They believe that the aortic aneurysms are part of our MC genetic defect because the MC is responsible for blood vessel health and if the MC is defective, it may be the reason why our aortas are defective as well.  They believe there is a connection.   When I asked these researchers how they could suspect my entire family when I am the only proven case, they said that they believe the others may not show the full blown defect on their MCs as I do, in that I developed mastocytosis but that the others may have the defect to a much lesser degree only showing itself within their aortas or in lesser degrees in other areas.  One of my siblings I believe has MCAS, my children are showing MCAS, my father and another sibling lived with acute asthma while the others are fine.   Iīm the one where "lightening struck twice".    And yet, did my grandparents have this?   Probably, but who amongst them???  Only God knows that answer!!




As to the Cleveland Clinicīs information, Iīve learned not to give much importance to these kinds of site, Phyre.  I go directly for the medical articles published by the researchers and authorities themselves.   Cleveland Clinic has a bad reputation amongst masto patients and although the hospital is a reference for cancer and cardiological issues, they are not for Masto.   Unfortunately too many patients have come away saying that they got a huge runaround and could not get answers.   Iīve heard few good comments and perhpas it was belonging to only one or two doctors who did know masto.  

So, is itīs likely a defect you inherited from your parents but for unknown reasons, few develop the defect.  But perhpas the defect itself may show itself in other ways, with other diseases, like in my family where the defect is showing itself with aortic aneurysms.   This is the suspicion of these researchers, Phyre and there is nothing in research to back this suspicion up yet.  It is their theories and why they have chosen to base a study on my family and include others into this study to see how families may be showing the MC disorder especially looking at aortic aneurysms.    By limiting to this one area, it makes their research easier.  If they can pin it down with this one study, then that will break open other areas of research trying to pin down other diseases where they know the MCs hold a key role.  

So, I know it sounds a bit pompous, and I donīt mean to come off sounding as an expert, which I am not, but everybody here knows I speak with some of the authorities in masto because my case is so complex and Iīve gone as high as I can amongst doctors here in Brazil, which forced me to seek for help and support outside of the country.   So this is why, in trying to find research for my doctors, I have learned not to give too much value to the various hospitals and the information they put out.    If Brigham & Womenīs were to put out such information, then Iīd be listening, but they donīt and they only have their researchers publishing articles as to the work they are doing, which is also what the NIH does.    

Now, as to this research regarding the genetic defect of masto, you will find Dr. Gerhard Molderings of Germany producing EXCELLENT research on the genetic defects as does Dr. Escribano.  These two researchers and others such as Dr. Castells and Dr. Akin have stepped out of only studying Systemic Mastocytosis and are studying MCAS as well.  The other researchers like Dr. Valant, Dr. Horny and Dr. Metcalfe seem to stick faithfully to SM only.  So, if you look for articles regarding genetic area of MCAS and SM you will begin to find information which is much more reliable.


I hope this helps!

Lisa
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