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http://mastcelldisorders.wallack.us/yabb/YaBB.pl Welcome! >> Introduce Yourself/Share Your Story >> Wow! Looks like I won the Rare Disease lottery too!!! http://mastcelldisorders.wallack.us/yabb/YaBB.pl?num=1322847713 Message started by phyre on 12/02/11 at 05:41:53

Title: Wow! Looks like I won the Rare Disease lottery too!!!
Post by phyre on 12/02/11 at 05:41:53

Wow! Looks like I won the Rare Disease lottery too!!!

I must appoligize now for this and all future jokes I may make about this very serious problem. The reality is something is going to get us all. I made a decision early on to not let it stop me from enjoying what I can. ;D

I have been suffering from alerigic reactions since I was 23. My biggest complaint was that they caused migraine headaches, but there were lots of other allergy problems present like breathing and sinus issues. I did not know what was causing my migraines for 10 years. During that time I had migraines 24/7. Life sucked! I had no relief with any of the medications they had at the time. I stopped going to doctors about it after about 3-5 years because they were no help. I reacted to the medications, and when I suggested to a doctor that maybe the medications have a similar ingredient that I react to, that doctor told me that I needed to see a phychiatrist. Whatever!

Later I figured out after countless elimination diets, that I was severely alergic to sulfites and sulfates. Sulfites and sulfates are in all medications in small amounts, and are in all types of packaged foods. It is impossible to stay away from them unless you know what foods contain them. I could only eat from the produce isle and meat from the meat counter. Life got better, but the migraines never stopped completely.

Then last year I broke out in this rash that would not go away. The itching was so bad that I would scratch till I bled and bruised. 3 doctors and five months later, a doctor finally took a skin biopsy and I was finally diagnosed with cutaneous mastocytosis this year. It is all starting to make sense now, but I really think it is more than just my skin. The other allergic reactions have to be part of this somehow.

I take as little medication as possible, but I am sensitive to others that do not have this luxury.

Hope you are well reading this.
Phyre

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by Joan on 12/02/11 at 15:28:27

Hi Phyre,

Welcome to the forum! I always think of it as the best club in which you wish you weren't a member! ;D Laughter is a good thing in my book!

I want to respond to what you wrote about supplements, so I'll do that on your other post. Glad you've found one doctor who has helped diagnose you. I believe cutaneous masto can cause systemic symptoms. Maybe someone with it can jump in here and tell you. Have you been worked up for SM or MCAS?

If you don't mind saying, who is your dermatologist in the Denver area? I'm further south in Colorado but am trying to find a dermatologist who knows something about masto.

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by phyre on 12/08/11 at 15:30:20

Hi Joan,

I was referred to Dr Maris at the Rocky Mountain Cancer Center. I really like him because he took a personal interest in helping me understand what I have. He is a hematologist oncologist, and I also saw him listed under dermatology online somewhere- not sure why.

I need to find an allergist too. got one?

My full diagnosis is cutaneous mastocytosis, but when I react I get pretty sick. And when I have a lot of mass cells, I get a lot of migraines.

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by Joan on 12/08/11 at 16:24:35

My local allergist is Daniel Soteres, and I think very highly of him. But, he's only in Colorado Springs, Pueblo, and possibly Woodland Park. The local masto support group chairperson recommended Dr. Weber at National Jewish Medical Center and Dr. Dreskin at CU Medical Center. I believe that Dr. Dreskin directs allergy interns or residents at both places. Both are knowledgeable about mastocytosis.

Are you able to take any antihistamines? If so, which ones don't contains sulfites or sulfates?

Just curious, but did Dr. Maris do a tryptase test or a bone marrow biopsy?

Thanks for the doc's name.

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by phyre on 12/10/11 at 13:36:40

Thank you so much for the dr names!

I'm still trying to find antihistamines that I am willing to take everyday. I stay drowsy for 12 hours when I take hydroxizine (sp?). Zantac and Tagamet are good for heartburn. I just bought some Allegra too. Clartin doesn't seem to work. I have my epi pens too, but I have never used one. A dr just told me yesterday that I can take them when I get a reaction that makes me feel dizzy, nauseous, and faint. I rarely get short of breath.

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by iamnotalone on 12/11/11 at 11:09:22

Phyre;
Hydroxizine & Atarax are an antihistamine my old allergist used to prescribe (for my chronic hives) to be taken at bedtime- so I could
sleep with all the itching. They knocked me out too!
Allegra is a good one for daytime.
lori

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by missybean on 12/11/11 at 16:38:30

Welcome to the forum! Have you tried a mast cell stabilzer like cromolyn soduim or ketotifen? I have tried both and I'm on ketotifen right now which is really helping me. The cool thing about both those is they are both compounding prescriptions so you can a lot of times can request no fillers just the medicine.
Melissa

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by phyre on 12/12/11 at 09:12:29

I haven't tried many meds. I shy away alot, but I am going to get an appointment with the local allergist Joan referred me to. That probably won't be until January.

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by Joan on 12/12/11 at 17:08:57

I understand your reluctance to take meds, especially if you've reacted to them before. I've had good luck with both Zyrtec and Allegra. Now I take Zyrtec at night, and Allegra in the morning. Allegra seems to be the least sedating fir me.

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by Susan on 12/12/11 at 19:09:32

Hi Phyre,

Welcome!! I understand your reluctance to take medications. I never took even an aspirin for over 25 years, and was very careful with my diet. Then my health took a precipitous slide, and I learned I sometimes needed more than healthy food. Finding the right medications for masto has been nearly miraculous for me.

I was a long term chronic migraine person, too. Fortunately we handled them prior to my diagnosis of masto. There are a huge, wide range of treatments that can help with migraine. If you react to most regular migraine meds, one you MIGHT be able to try is inta-nasal Lidocaine. You can get bottles of liquid Lidocaine without preservatives (therefore no sulfites). You draw up about 1 cc into a syringe, take the needle off, and slowly drip it into your sinuses. Sounds weird, but it numbs things out, and can interrupt the migraine. Obviously this is an RX process, but it is something you could ask about. If you wanted medical papers to take to your doc, I could look them up.

I'm suggesting this, as Lidocaine is something many people with mast cell issues can tolerate, but you would need to make sure that was true for you. Migraines are so debilitating!

If you can get your reactions under control, you will probably have fewer headaches. I used to think antihistamines didn't do anything for me, but I learned it was because I needed much higher doses than I had been taking. It is very individual, what works for each person. I can't tolerate Allegra, but Zyrtec plus Zantac works well for me, and ketotifen and Singular also have improved many symptoms. Even things I had no idea were related to allergic type reactions have improved. Hopefully you too will see improvements if you get on a better protocol for you.

The people here on the forum are great!! I woudl never have figured this out without them.

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by phyre on 12/13/11 at 09:45:58

So much good information! I know that my migraines are directly related to allergys. I got an appointment today to see an allergist at National Jewish in Denver. Wish me luck. Thank you everyone.

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by Riverwn on 12/15/11 at 19:19:27

Hi Phyre!
I just want to welcome you here! I see you have found some great people with excellent advice.. I adore the people here, so caring and thoughtful... youre one of us now and we have your back :)
Huggles,
Ramona

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by phyre on 12/15/11 at 19:35:50

Thank you Ramona! I really am feeling the love here! :) Thanks everyone!

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by mikev on 12/16/11 at 14:18:33

Phyre:
Welcome to the forum. I have SM with my organ effected being my skin. I'm not sure we are the same. I have no migranes only severe skin sensitivity & pain similar to nerve pain. Do you have skin sensitivity? Although you do sound like a leaker like me not a shocker. I've never used an epi either in fact don't own one. Melissa is 100% right you need to get on Gastrocrom or Ketitofin. I'm on gastrocrom & it has made a difference. I too have problems with sulfites, that's why this time I'm going with Melissa's pharmacy in WS to try ketitofin because the regular contain cornstarch, very high in sulfites. I go with liquid meds when I can. Liquid tylonal works real good for me. You found a good & caring home in this forum, with people who have tried lots of things, I thank Melissa for her posts to stear me to her pharmacy for another try with ketitofin, which should be the right drug for me. Regular zrytec has no cornstarch, nor does singulair. Both drugs a lot of us take.
Good luck
MikeV

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by phyre on 12/18/11 at 03:04:36

Hi Mike

I did not know that you could have systemic masto, and yet only have it in your skin. Mine has only been proven to manefest on my skin, so they could only confirm that it is cutaneous masto. That went into a somewhat dormate state after I went on prednosone for a few weeks and I started taking 3 antihystamines per day. I still itch a lot with few rashes. When I have a bad allergic reaction, my blood pressure drops, I feel dizzy, and I get nausia. The anesthesiologist says that is anaphylaxis, but thank goodness I rarely get short of breath.

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by mikev on 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

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by Kupcakemastogirl on 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

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by Lisa on 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

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by phyre on 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.)

Title: Re: Wow! Looks like I won the Rare Disease lottery too!!!
Post by Lisa on 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 don´t 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 you´ve 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. I´m 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 Clinic´s information, I´ve 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. I´ve heard few good comments and perhpas it was belonging to only one or two doctors who did know masto.

So, is it´s 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 don´t 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 I´ve 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 & Women´s were to put out such information, then I´d be listening, but they don´t 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