I promised that I would post about Em’s Vitamin D test results – since, I just got the results from the doctor, I can now share what I think is a huge, gigantic, crucial piece of the puzzle for her health.
You are probably aware that Vitamin D is vital, being deficient is bad. Severe deficiency causes rickets in children, osteomalacia in adults. The long list of symptoms include bone pain and fatigue, muscle weakness, numbness and so on. The optimal range is 50 to 100.
Em’s Vitamin D level is 6.1. Not 61 – six point one. That is not low, not even simply deficient. That is severely deficient and, because she is having bone pain, her pectus carinatum is worsening, her ribs are wonky and she possibly is developing scoliosis, I think we may be looking at a diagnosis of osteomalacia or maybe rickets. I know the cut off is the closing of the growth plates so Em is probably beyond that but I just don’t know for sure.
The really great news is this is reversible with large doses of vitamin D to fill up her tank and maintenance doses to keep the tank topped off. The pain, fatigue and bone changes are reversible. I don’t love that she is dealing with this, but at least this one is treatable!
She was probably low for some time, but I think most likely this has become severe in the last six months – probably since her surgery in April and the resultant GI issues. Her absorption is almost certainly very poor and definitely got worse after surgery. Her diet has definitely suffered – between the food sensitivities from MCAS and the poor appetite from gastroparesis, she eats poorly. Although she does work to eat as well as she can with the limitations she has, it is just not enough to supply her body what it needs. Add to those difficulties the fact that she is on meds that restrict her from sun exposure and that she has autonomic dysfunction and cannot stand the heat and you get a bad situation.
So, the doctor who basically poo-pooed my concern about vitamin D deficiency causing fatigue on Thursday, today is very concerned. He wants to toss her back to her pediatrician to really address the issue properly, as it is out of his area of expertise – and she is a child with a complicated medical condition. I am strongly leaning towards giving the geneticist a call and seeing what they suggest. (Bless his heart, Dr. Neilson also poo-pooed me about vitamin D causing her problems, but I think he will be able to steer us where we need to go.)
I think we need an endocrinologist who specializes in bone metabolism. And, we need to rule out thyroid issues and check up on the issues the allergist saw in the blood work this past spring. So, I am going to push for a specialist. We are going to end up at Children’s – either Riley or Cincinnati. I would prefer Cincinnati and I think we can now make a strong case that this is related to the EDS, so maybe we can convince insurance that it is necessary to go to Cincy. And there is BCMH that will help as well.
So, we will see what happens but I just feel like this is a huge piece of the puzzle. If we can address this, she could actually start feeling good again. How great would that be? So, while I enjoy being right and being able to tell a doctor ‘I told you so’ , I am absolutely thrilled that we are on to something that could make a huge difference in Em’s quality of life.