Well, after 21 hours spent in doctors' offices and hospitals in the last 7 days, and consultation with 6 different doctors and a stack of lab and tests results that would wear out any printer cartridge, we think we are finally on the right track with our little Ava monkey.
We are fairly certain she does not have a metabolic disorder. YEAH! There are still a couple of possible tests to be run, but after examination by the genetic counselor and geneticist, they are are confident that the methylmalonic acid build-up is secondary to her GI issues. Now the only concern is why they are out of whack and how to get them back in normal range.
Ava's endoscopy and sigmoidoscopy did not come back clean. (though fortunately she came through the procedure with minimal anesthesia issues) In a way this was a blessing as it pointed fingers away from metabolic issues and back to a more manageable diagnosis.
She has been officially diagnosed with Eosinophilic Esophagitis (EE). While I had hoped she wouldn't go down this road, it is almost a relief to have a diagnosis we can begin to manage.
This diagnosis does not change her anaphylactic food allergy diagnosis-- it is a different mechanism, and though related, remains a separate issue. She has also officially been diagnosed with Asthma. This diagnosis too, is somewhat of a blessing since she has a documented "Asthma Action Plan" and there is no more guessing at how she will be treated. This also means NO MORE BREATHING TREATMENTS!!!! We hate giving breathing treatments--they are time consuming and she does not like to sit still for them. Her asthma will now be managed with inhalers and oral meds that are much easier to administer.
Unfortunately, an EE diagnosis just brings a whole new host of questions as to what is causing it, and how we will treat it. She has a new allergist that specializes in this disorder, and I really like her after the two hours she spent with me yesterday. Her approach is tiered in 3 parts. First, we put Ava back on reflux medication and a nasal spray to determine if the EE is being caused by environmental allergens we don't yet know about, or GERD that is untreated. In two months she will be scoped again. If this works great, if not, we move onto allergy testing for a ton of food and specific environmental allergies that may be causing the issue. After 2-3 months on a new, further restricted diet, we scope again. If it's clean great- keep going, if not the last step is a purely elemental formula diet.
Although the doctor says her gut tells her we're going to end up on the elemental diet anyway, she wants to give Ava every chance to take the easier road out! Since she is already on a solid diet it will be a brutal transition at any point.
She is being put on 5 new prescriptions for the next couple of months and we will see how it goes. There is no telling if or when she will outgrow, but the doctor did warn me that only a very few come out of this with no restricted diets as adults, especially since we have the anaphylaxis and asthma diagnosis in conjunction. BUT....she said kids surprise her everyday and we can always hope Ava will be one of them.
So there is the scoop we wish we never had to share!
Thank you for all your prayers on her behalf. We really appreciate all of you!
3 years ago