Hi,

I have Ehlers-Danlos Type 3, a metabolic myopathy, 2 errors of metabolism (HFI & FDPase Deficiency), and am currently being worked up for systemic mastocytosis.  

I believe my kids, both grown adults w/EDS, have it as well.  I have spent the best part of my life actively trying to get us diagnosed and our medical needs and disabilities accommodated.  As I always say, "better late than never."

At the moment, I am waiting for the results of a bone marrow aspiration and biopsy.  Whatever the results, the hematologist and immunologist both recommended I follow up w/a masto specialist. Problem is, there is none here in AZ, I'm told, and due to my muscle issues and other limitations I can't travel.

Any suggestions? Would anyone know of a masto specialist  who might be willing to consult or work w/one of my docs here locally?  Is that even possible?  

Also, is there a type of masto that's hereditary?  Anyone know?

TIA,

Deb Mc

Hi Deb!  Welcome to the group.

As to Masto being hereditary, Debbie is right, they know that it's genetic, but they say that it's rare to run in families.  However, there's not enough research out there and I think it's questionable.  My masto specialist said that she got in a 4 year old child with TEMP, her mother has it and her uncle too!  Yet, she was telling me that she's seen bunches of UP kids (she's a dermatologist) and has several adult cutaneous cases and about 5 systemic patients, me being one of them.  So, this was her first time in having a family with the disease.  And she's been a doctor for over 20 years.  So that has something to say about it.

However, to balance that, I've spoken with other who say that they've seen suspicious situations with their own kids that make them think that they too could be developing it.  And, when I saw my doctor last week, I took in my son for her to help me with him because he's got something autoimmune going on with him and my case is an autoimmune MCAD case.  I'm suspected of having SM, but I've got more testing still to do.  However, my son is showing some of the very same autoimmune markers I've got and he's got some weird symptoms and like me, the markers don't fall into any one specific disease and his case is wide open.  My doctor suspects that although he's not masto now, he could be in the process of it's developing and by the time he reaches 30 or so, he may end up showing the disease.  

This sounded pretty reasonable to me, for you don't get a disease like masto overnight - it's not a cold or flu that you catch and then shortly thereafter get sick with it.  If my son has what I have, then it's years in the process for I when I look back to situation of 10 or 15 years ago I can now say, That was the Masto showing its face!!!   I've no doubts about it now.  And had I suspected anything an anybody had gone looking for the autoimmune markers, it's very possible that they were there.  This, of course, makes me concerned for my son, but what can be done except keep an eye out for it.

Chaco, we worry for our kids, probably more than for ourselves, due to the damage and hardship that it can impose upon their lives, right?  I have a hereditary aortic aneurysm that killed my father when his dissected.  I recently underwent surgery to repair mine.  Every one of my siblings have inherited it too and they are now under close watch on their aortas.  There's not a thing anyone at this time can do to stop the aneurysm from developing and we can only watch and wait.  So, I have a choice.  Either I'm going to work myself into a tizzy and an ulcer from worry or I will do what I can to protect my children and help educate them as to what they must do to keep themselves healthy.  I choose Door No 2!  It's the healthier choice!   No matter of worry will change their genes and even though it saddens me the idea of my son living with this, it's still LIFE and LIFE IS GOOD and still worth living, even when we are sick!  Don't you agree?

Now, what about YOU?!!  

I would suggest, Chaco, that you write to either Dr. Castells or Dr. Akin or perhaps Dr. Metcalfe at the NIH and ask if they know of anyone in Arizona who knows of a specialist in masto in your state.   I don't know of any, but perhaps some of the people at the TMS site do for they held the TMS conference there this past year.  

As to Dr. Castells and Akin working with your doctors, yes, they will.  And it would be worth it for then in you have the BMB you should have it sent up to their pathologists to do the study of the marrow so that there are no doubts as to how it was done.  It think the NIH will also do this for patients.

I hope this helps!!

Lisa

Oops!  I meant to ask, could someone please provide current email or snail mail addresses for the 3 aforementioned docs?  Googling that info brought up different addresses for two of the docs, not sure which if either is correct.

TIA,

Deb Mc

P.S.  "Chaco" is the name of my choredog and our farm.  I use that as my screen name when I see there are other members named "deb".

Hi Deb

I was SOOOO interested to read your story as you chime with mine.

I am intolerant to most drugs - I am even now struggling with ketotifen and I have been taking it for months - suddenly I am reacting to it.

I can only eat three foods too and react to anything and everything but like you I cannot tolerate histamine and histadine.

Your theory about metabolism is right I think - my MCAD (yet to be diagnosed) started two days after I gave up all forms of sugar - something just went wrong.

I would love to talk diet and supplements with you - what can you eat? What foods do you find to be lowest in histamine?

Oh and I have suspected ED too! WELCOME!!

If someone could get those docs' contact info to me, I'd greatly appreciate it.  My son had another acute attack and I need to try to find a physician here locally to try and help.  

My son started having episodic psychosis in 2004. Same exact symptoms leading up to, during and following these episodes as those he experienced w/seizures from age 4 - 14, about the time he was dx-d w/pre-leukemia.  But instead of seizures, at age 22 he started having atypical psychotic-like episodes lasting anywhere from 3 days to 3 months. It appears to be due to inflammation in his brain and liver.  In between episodes, he recovers some but does not fully regain the lost cognitive abilities. Sadly, it's taken his toll and he's suffered severe cognitive deterioration.

He can't take anti-psychotic meds as they only worsen his condition. And I can't take him to the ER as all they do there is stabilize w/drugs that he can't take.

Worse, my son is missing. I don't where he's at. He was up all night w/insomnia again and left before I got up. He tends to wander off in this state of confusion and delerium. He has great difficulty thinking, expressing thought and communicating. Last time this happened, the Sheriff's office sent out Search and Rescue team in a helicopter to scan the desert surrounding our home.  They ended up finding him at the ER.  Amazingly, he had rode his father's bicycle 20 some miles down an Interstate in 110 F heat in search of help since his mom couldn't do anything more to help me.

It's  breaking my heart. Since he's an adult, they won't look for him until he's been missing for 24 hours.I don't know what to do. I know he hasn't taken his cromolyn or chloropheneramine as both Rxs are here.  I've run out of options and he's pretty much given up.

I won't get the results of my bone marrow A & B for another week and a half.  I'm hoping it might provide some answers that'll help get my son worked up as well.  Unlike me, however, he's on disability (medicare/medicaid) so it could be even more difficult finding a doc willing to help w/him.  As stated previously, I can't travel due to my muscle problems and other limitations and my son can't travel by himself.  

I want to write and ask if either of these physicians would know of a doc here locally that might be able to help us.

Please, if someone can provide this info or has any suggestions to offer, please email it to me @ debmcqueen (at) hotmail (dot) com.

TIA,

Deb Mc

Although I'm not a big fan of TMS (long story), I think that would be the best place in the US to get a referral... http://tmsforacure.org/contact.shtml  As you know, Arizona is not exactly a hotbed of mast cell research  

I wish I had a better answer for you, but I don't live in that part of the country.  I hope your son is found safe and sound very soon!!!

Heather

Hey Deb,

If I were you I would try to contact the TMS again.   I have contacted them twice now and both times they have responded back by the next day.  The first time I contacted them was for finding a doctor in my area.   Valerie M. Slee was who responded back to me and we had a couple emails back and forth and they were all done in a timely manner.   Just go to there home page and click on the "contact" button at the top of the page or just email them at  info@tmsforacure.org  
I hope things work out with your son!

Take Care,
Tracey

I have found that a helpful source of doctor info too, but it took time. The member I contacted was really helpful, but she had been in hospital, and said she receives many patient emails in a day, so I guess you just have to bear with them.