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Methylmalonic acidemia with Homocystinuria in adults
Anyone delt with this diag before? I'm 58 years old, my Dr. has written this in my medical records 6 mnths ago, I have low B12, VD, low Iron, levels, I'm allergic to colbalt, B12 supplements has been a issue, I have not been given no instructions on what to do for this Diag, when i looked it up, it says its a rare disease. I'm dealing with constant neuropathic pain in my lower legs, my fatigue is terrible, and I've been dealing with hairloss for about a month. I want to come to Mayo, but I need to change my ins to orginal medicare, I found out after calling, I'm afraid my Dr won't refer me. Any suggestions appreciated.
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@lilli64, I had to look up methylmalonic acidemia with homocystinuria as I had never heard of it before. It is a very rare condition.
"Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process certain nutrients from food including amino acids, lipids and cholesterol. People with this disorder have a combination of features from two separate conditions: methylmalonic acidemia and homocystinuria." https://rarediseases.info.nih.gov/diseases/3579/methylmalonic-acidemia-with-homocystinuria
You do not need a physician referral to request an appointment at Mayo Clinic. You can self refer. Learn more here: http://mayocl.in/1mtmR63
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2 ReactionsColleen,
Thank you so much for replying back this is the 3rd time I've, been diag with a rare disease, and not be told by my Dr's. I end up finding out by getting copies of my medical reports or they appear on my medical charts. For the past 4 years I've going down hill pretty fast I'm only 58, I've been going back and forth with 1st pulmonologist and then my 2nd opinion pulmonologist over a diagnosis of Chronic Granulomatous disease which is another rare disease. Both of the pulmonologist refuse to give meva referral to a gentic counselor. I maybe not understanding how it all works to get help with these rare disease, but I do know that my body is suffering from not getting the treatment it needs. I've already lost two brothers and my father/mother from a heart condition, only my sister and I are left and I'm the oldest.
I'm in the waiting period of changing my Medicare advantgage plan to orginal medicare to be able to get into mayo. I've known about this situation for sometime but kept getting conflicting answers from the doctors here, I know my kidneys are suffering all ready and I'm losing hair like crazy, my eyes have dmg too. Is there anyone in the community that can help with question on how gentic testing works with your insurance ( Medicare) being under 65, & if you know of any members that have Chronic Granulomatous disease of the lungs? I appreciate what ever help you can give me Colleen will be greatly appreciated. Thank you so much God Bless L.
Lilli, did your doctors tell you why they don't recommend genetic testing, or to start, a referral to a genetic counselor?
Talk to a metabolic doctor. The regimen for this rare disease involves VERY high doses of INJECTED hydroxocobalamin (+ other meds if your homocystine etc are high).
Oral B12 is inadequate. This condition requires a lot more hydroxocobalamin.
To be clear, I am not a doctor. I am suggesting you find one that is connected to the other doctors who have dealt with dozens of patients with this rare disease. Most docs have never seen it.
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1 ReactionThank you for responding, I've not had much luck, with getting my PCP to help me out with a remedy or getting me into Mayo. Bless you!