My thoughts on “testing”

At this stage in my son’s life we’ve had more medical tests run than most people do before the age of 50. We’ve also done tests that a lot of people will never have run on them. That’s part of what comes with a very rare diagnosis. We are deciding if we want to do further testing for the sake of science and advancing modern medicine. Avery is after all only 2 and a half years old.

Here’s where I put out a disclaimer. I have no judgement about others and the testing they have or haven’t had done, or the medical choices other families have made. I only know what our experience is and the reasons behind our decisions.

We are not having Avery tested for Autism yet. I’m not sceduling an evaluation through a child psychologist….yet. There is a timing to some of this. We don’t want a diagnosis that could be incorrect. His MMA could be causing his delay and could be contributing to a lot of other behavioral issues. He may well still be Autistic, or have a processing disorder, or both. I haven’t burried my head in the sand, or turned my back on my mother’s instinct about these things. I’ve just agreed with his father to see how his therapy goes, get his B 12 loaded and bring his levels down, and to give him time. The reason testing is important is to get him therapy soon enough to help him “catch up”. We’re already in therapy and doing well…I think we all deserve some time to get to the next step.

I was worried about Avery’s development from the beginning. His disorder effects a lot of different systems in the body, and has the potential to stunt him in a lot of ways. I have had to put all of my worried thoughts daily to the side and just focus on what we can do and what we do know. I look at him and the things he can do now and I’m thankful for his progress and his sweet nature. He has been a very determined little man since birth.

I did a questionnaire last week that his occupational therapist recommended to help with his therapy. It told me what in my heart I already knew. Avery likely has a sensory processing disorder. I’m glad we know what his struggles are right now, but regardless of what is “suggested” about the results never changing, I still want to wait it out. I still don’t want to have him labeled with anything until his specialist can regulate out his organic acid levels.

When 9 out of 10 doctor’s you’ve ever explained your son’s medical condition to still have to “Google” it there isn’t a huge level of confidence in treatment that goes with that. I feel like as his parent I’m more of an expert about my son and his health than they are. I know he’s felt crappy for a while and it is most likely effecting a lot more than people know or understand. I’ve been trying to get him back on his supplements for the last year. We’re starting them again now.

I’m not bitter regardless of how it seems. I am grateful for the medical community for finding this disorder in the last 5-6 years and for coming up with the testing to diagnosis it so soon after birth. I’m so beyond thankful that my son didn’t experience major complications or not survive because of something unknown or unheard of before. Prior to the newborn pre-screens for MMA children with severe cases that passed away were considered to have died from SIDS. Doctor’s and medical experts just didn’t know what it was or how to look for it. I thank God every day that we found his metabolic disorder so early.

I know how people look at you when you say your child has something rare. I know what it feels like when the answers you get to all of your important questions is “we just don’t know”. I also know that there’s no way anyone can test my son and know that his delays are autism related and not from his MMA.

I just want him to have a chance to be a little boy. There is time for more diagnoses, and testing. For now….we just need to keep moving forward, enjoy life, and count our blessings.

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