Grayson’s surgery was 4 weeks ago today. We were told we wouldn’t get the results of the muscle biopsy for about 10 weeks, which to most sounds like an incredibly long time of torturous limbo. But for me, I was ok with that timeframe. You see, I am terrified to get the results. I am afraid Grayson has Mitochondrial disease. And I’m also afraid he doesn’t.
If he does have Mito, it means a lifetime of struggle for him. It means we are just at the start of this journey, which already feels like I’ve run a marathon, sprinting the whole way- and I’m winded.
If he doesn’t have Mito, most likely the above still applies, but then…WHAT DOES HE HAVE? Because he has something. And we’ve already ruled out all other possibilities that have been mentioned. I need whatever is wrong with him to have a name. I need it to have name so doctors will take us seriously. So we can have a protocol when we are in crisis and need to be in the hospital. So we can give him the right medications and therapies safely. So I can connect with other moms dealing with the same thing.
So I’m scared he does and I’m scared he doesn’t. And then there’s the thing I am dreading the most: inconclusive results.
This wait has been ok with me. Ten weeks of sort of an “ignorance is bliss” kind of thing. Except I didn’t exactly get my ten weeks. Our pedi called the other day to check on Grayson and also to tell me one of the biopsy test results was in. She admitted that she didn’t understand everything in the report and I would need to consult with genetics. I went to her office and picked up the report, because even though I don’t understand how to read a lot of it, I had to see it.
The report is full of numbers, percentages, and descriptions. The results are definitely NOT normal. Grayson’s mitochondria are enlarged with abnormal patterns and densities. There are values that are too high and values that are too low. The report even says “Features suggestive of a mitochondrial myopathy”. But then the dreaded phrase, “…We cannot confirm or exclude a diagnosis…”.
I talked to the genetics nurse. She said she rarely sees children diagnosed with Mito based on this one report. That the other report (which will take the full 10 weeks) will be more definitive. I hope so.
Yes, it’s been a frustrating, maddening few days. But there’s been some bright spots too:
- I made a new friend today. I’ve been reading her amazing blog for awhile and emailed her this morning. Turns out, her daughter and G-Man are just a few months apart in age, have almost identical symptoms, and she is struggling with lack of diagnosis too. I can’t wait to get to know her better.
- Ryan, Grayson and I got the most incredible, amazing gift delivered today. I am hoping the person who sent it will let me blog about it, because it really does deserve a post of its own.
- A representative from Division for Blind Services came to our house this morning. She told us about a conference for families of vision impaired children that’s happening next month- very close to our house! I went to register and realized the registration fee was way out of our budget. I emailed our rep and asked if there was financial aid available- she said the agency would cover the whole thing! Just shows it never hurts to ask!
- It was 80 degrees in Houston today- gotta love springtime weather in February! Ryan’s team had a tournament today so Grayson and I went to our first softball game of the season. G was looking extra precious in his seersucker baseball outfit (loved that I had an excuse to dress him in it)
Oh, how I love this little guy. He is just the best.
I think it make absolute sense that you're both terrified Grayson will and will not be diagnoses with Mito. Both options are incredibly scary. I'm so sorry you have to go through all of this.I'm also so glad you found a friend who is going through a similar situation. I can't even imagine how much support you will be able to provide each other. Yay for friends!And seriously, that little boy get's cuter every day! SO SO CUTE! Thanks for sharing him with all of us.
Adorable, love that outfit!!! Sorry for the worries, glad for the bright spots…we will be with you on the rest of this run.
waiting to a get a diagnosis is so scary and frustrating.I have 2 friends who's children have had a undiagnosed leukodystrophy for at least a year they both recently got a "tentative" name to their Leukodystrophy.I totally understand the bitter/sweet to having a name to the illness.(((Hugs))) to you and your little man♥