WARNING: the foods we cook for Abby are safe for her, but not necessarily for everyone. Please confirm any ingredients are safe for you before using in your diet. Food Allergies can kill and the best policy is complete avoidance. Read this post for more info.

Wednesday, January 22, 2014

The Same Symptoms;Very Different Diseases

Mast Or Mito

GI issues
reactions to dental treatment
bladder involvement
poor sleep quality
vitamin deficiencies(B and D's especially)
Immunological disorders
autoimmune disorders

The list could be much longer, but these are the ones that we are familiar with as far as Abby and the various work-ups and issues she has dealt with up to now.

You can see how it could be very hard to know which is which..

IF you are what we call a Shocker, that is someone who when they react go into shock and need an EPI shot or ER care. I suspect you would be worked up for Mastocytosis or MCAD before anything else. Shocking is a far more definitive sign Mast disorders. Abby has a few reactions now that are immediate that we have been nervous about as she did as a child, but for the most part we can avoid them. Many with a mast disorder will also have a lot of various skin findings- lesions,rashes,hives. Abby gets hives and skin issues but very mild and very transient compared to many.

What if you are a "Leaker" though? A leaker is someone who after being exposed to a "trigger"(food, environmental, illness etc)doesn't shock. Instead they have a cascade of symptoms that mimic a ton of diseases. Abby is a "leaker" usually. Add to that, many Leakers have delayed reactions(up to 72 hours later) you start to realize that diagnosing Mast is potentially more complex then Mito. For many of Abby's reactions they do not present like an allergy at all. She can get a headache,fatigue,constipation,poor sleep for a week, those sure mimic mito symptoms. Certain foods like corn trigger dysautonomia like symptoms. Heart racing,low BP, difficulty with too warm or too cold..

Abby has a few things like scoliosis/kyphosis, low muscle tone that clearly are not Mast but neuromuscular. I often wonder if she had seen a Mast Specialist before a Neuromuscular specialist if she would have ever had the second biopsy that found the mitochondrial depletion? On the other hand, her Mast symptoms are far from clear cut, it is easy to understand why no one thought to explore Mast before Mito.

There are a few "definitive" labs for Mito. For the most part there are many who have more then a few iffy findings, clinical findings, more then 3 systems involved and everything else has been ruled out. For Mast disorders there are few definitive tests. For Mastocytosis it is far more clear cut. Tryptase,bone biopsy, C-kit mutation(give or take). For MCAD disorders though, at times the diagnosis can come down to simply whether or not your symptoms resolve/improve with treatment.

We are starting to think that neither issue is primary for Abby.. neither explains everything. Both a Mitochondrial disease and a Mast disorder can be secondary disease processes to an "unknown" primary. On one hand, the thought that there is still an unknown disease process with Abby gives us a great deal of hope, if we can figure it out and it can be treated it could make a massive difference. On the other hand at this point it is unlikely there is anything else "known" going on.. More and more it is just some very special blend of genetics that are unique to Abby.

I am so grateful that we figured out the Mast involvement- it looked nothing like a reaction or an allergy, it really looked a whole lot like Mito, we got lucky. Knowing about the Mast allows us to keep Abby safer and more stable. I cannot help but think of all the Mito patients out there and wonder how many of them also have a secondary Mast cell disorder? I know quite a few now- how many more are out there? Knowing is not going to "cure" them, but it sure might help stabilize their Mitochondrial Disease..

Mito or Mast can be primary, or secondary or primary or secondary to each other, secondary to other diseases- complicated, right?

Keep looking for answers folks, sometimes we find them.


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