Diagnosis

It has now been almost two weeks since we received our diagnosis.

I'm ready to tell y'all what's been going on.

Maisie was diagnosed with myasthenia gravis, which an autoimmune neuromuscular disease.

Nearly everything we've been struggling with since day one adds up. Muscular weakness, vision problems, impaired speech, difficulty swallowing...it all fits.

A handful of her symptoms are related to brain damage and birth and not myasthenia gravis - seizures, kidney failure, lung problems. But knowing what is causing a plethora of her other disabilities is such a blessing because we have a support group now, other moms who can help and sympathize, and a whole new plan for Maisie's treatment.

It was actually quite a miracle that we got this diagnosis. The pulmonologist had ordered a routine MRI of the lungs to check on Maisie's function, which is something we do three or four times a year, and the radiologist happened to notice that her thymus gland looked funky. We are eternally grateful to him for taking the initiative and showing this to an immunologist, who ordered the blood test that confirmed the diagnosis.

The doctors flew into action immediately. She was admitted to the hospital for three days and given an permanent PICC line through which she received her first dose of intravenous immunoglobulin therapy (IVIg). The past few weeks I took her in three times a week for therapy. Starting on Wednesday we'll be going in on the first Wednesday of every month for her therapy. She is also taking pyridostigmine every three hours. We will continue working with Drill Sergeant June: Maisie's prognosis is good. She might eventually return to regular growth and development.

I want to talk quickly about Maisie's eyes, because I never really discussed them before (I meant to do this the other day when I wrote a post called "honesty and ophthalmology" and then completely failed to talk about her eyes.) No one suspected that her lazy eye and droopy lids were caused by anything more than neuro damage, like a lot of her other symptoms. But since she was around a year old her left eye has been a little wonky. I wish I were willing to show you pictures so you could see how sometimes it tracks with the other one and sometimes it's just off doing it's own thing. Around eighteen months we noticed that her left eyelid was droopy, but at that point she had literally no other symptoms. She didn't start really walking proficiently until she was two and a half, but that was a balance/motor skill thing more than a hypotonia thing, so no one connected the droopy eyelids to muscular weakness. By two she had completely (if only temporarily) outgrown the hypotonia she had as a baby but the bones of her ears were ill-developed. Thankfully she outgrew that without much medical intervention and she started toddling. Her symptoms were then centered around kidney failure, lung inefficacy (that's totally not a medical term), and digestive troubles. If you've been around the blog for a while then you know she didn't really start having hypotonia problems again until after her fourth birthday. In terms of actual vision the left eye does not see anything at all at night. That we know for certain, but that's about it. We don't really know how much peripheral vision she has in either eye or whether or not she has

We still don't know why she won't gain enough weight. So far everything that's been tested has looked totally normal. The good news is she has stayed steady at 19 pounds for the past few weeks. So maybe she won't lose anymore weight. Truthfully, I just don't know. A few people have sent me messages saying she should be tested for diabetes. She has been. The endocrinologist has ordered several different blood tests and all of them have come back, not quite negative, but not really indicative of diabetes. I have been fighting for the endo to treat her as though for diabetes and see what happens. I have a very strong family history of diabetes. One of my cousins, we'll call her Rachel, was not diagnosed until she was fourteen but she had been very, very sick for almost ten years. Her body was ravaged by this disease but her doctor refused to believe that she had diabetes because the blood tests were not strong-positive.

On a happy note, Jeff and I have decided to do away with the white-dress church-wedding. It just is not going to work. So we'll probably get married in the courthouse and have a picnic in my mom's backyard afterward (we don't have a backyard.) Hopefully by June-ish Maisie's health will have stabilized and we'll be able to have a quiet little party.

I'll keep y'all posted!