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Pain from Rare Genetic Metabolic Disorder
Hi,
I recently found out at the U of M that I have a very rare genetic metabolic disorder called MADD II. It caused me significant muscle pain, weakness and constant fatigue. I don't see any groups here for genetics or metabolism. I'll either be coming to Mayo or Mount Sinai for further testing and treatment options. I'm wondering if anyone else has this and goes to Mayo for treatment? I started Celebrex and low dose Naltrexone about 9 days ago. I don't find either of them helping yet.
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Sorry to hear of such a difficult diagnosis. I hope that Mayo or Mount Sinai will accept you as a patient.
Hello @msclean,
Receiving a diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) must have been both a difficult thing to hear but a welcomed validation of the symptoms you have likely experienced for quite some time. MADD is a rare genetic disorder that takes 6 years on average to diagnose according to research:
"Multiple acyl-coa dehydrogenase deficiency"
- https://rarediseases.info.nih.gov/diseases/6523/multiple-acyl-coa-dehydrogenase-deficiency
As you mentioned, it is often finally diagnosed properly at larger care centers that include research. @msclean, did the U of M prescribe the current treatment you are on? You mentioned it is not currently helping, but medications like Celebrex can sometimes be a cumulative effect and take time to begin helping. You mentioned a few treatment centers you may be seen at including Mayo Clinic, is the U of M referring you to a care center?
@JustinMcClanahan I've been doctoring for 9ys with many health problems. Each specialist only looking at the symptoms they handle and sending me on to another specialist for another symptom and test. Never putting everything together because they weren't trained to do so. Our medical world is terribly broken. If Doctors were trained to look at the body as a whole and not have so many specialties and subspecialties, people could get the care they need sooner. Big changes need to happen in the medical training world!
The U of M has been no help. The genetic dr refused to prescribe me anything for the muscle pain. I had to go to Urgent Care for that. I'm the only adult they have seen with this. Still waiting on the Mayo referral. Mount Sinai will take me however they are not sure the treatment they use will work for me. They used medical grade ketones from the UK. MADD presents very very differently for each person. There are hundreds of gene variants of MADD located in different parts of the gene causing different problems for everyone.