Significant developments the last few hours!

The saliva genetic test focused on a neuromuscular panel came back…NEGATIVE.  The individual was apologetic because obviously we want answers, but I don’t want THOSE answers.  So no apology needed – I was thrilled.  This still allows us to hold space for something with a very treatable prognosis. A reminder of what remains can be fairly well summed up by letting you see the responses YOU provided!

In addition to thoughts and prayers I heard from dozens and dozens of you in easily over 100 texts, messages etc with ideas, theories, comparable stories, links, etc.  You were very realistic, honest, helpful, and incredibly appreciated!  You’ve helped me be more prepared for the next 8 days…and I’m so grateful for your time and energy, and also for your prayers for this sweet girl.

Let me recap what you helped to reiterate or add to the brainstorm list.  At a high level here are the most common items you mentioned:

Juvenile Arthritis (LOTS of this or arthritis variations popping up, and some very similar stories)

Dermatomyositis (Several strong cases for this too)

Auto immune generically (including revisiting Lupus because first tests often give false negatives)

Rett Syndrome (A lot of you worry about this one, I do too.  The regression fits, but so far she’s only impacted by gross motor.)

Tay Sachs

Mitochondrial

Metabolic

Vaccine injury, particularly aluminum toxicity (I had not thought of this at all)

Ehlers Danlos

Other Connective Tissue

Tethered Cord (This had fallen off of my list too, so thanks for the reminder.)

 In addition to blood work and labs that can help with the above, you added some news ideas such as seek an Ophthalmologist ASAP, consider a muscle biopsy and a spinal MRI or x-ray.  I’ll take all of this with me to the next appointment!  Speaking of which…

 

 On today’s results call I was relieved for the news and the negative – but also wanted some quick follow up and action.  They had the same plan and we are already booked to see neuro muscular again TOMORROW MORNING (3/5).  If you combine that with the Rheumatology appointment next week, I feel like we’re really close to figuring something out.  In the meantime, here’s a message from Isabella.