Holly, CMAMMA, Age 54
I’m Holly, I’m 54 years old and was diagnosed with CMAMMA in 2017. It is combined malonic and methylmalonic aciduria with high levels of malonic acid and methylmalonic acid. This form of MMA has higher levels of methylmalonic acid than malonic acid in the urine. I was experiencing very scary headaches while I happened to be doing the Keto diet, a connection I didn't put together until much later at the NIH. The headaches would usually come on in the evenings shooting up the side of my head then I would feel a tingly sensation and became very foggy brained. I was afraid to fall asleep, worried I was having a cerebral hemorrhage like my grandmother, and I have children and not prepared to have a serious health crisis. This went on for a couple of weeks, not every day but enough to tell me something was really wrong. I’m not an anxious person but this was giving me anxiety. When I was able to see my doctor, Dr. Nicole Sudduth, my internist, she performed a neuro exam and thankfully there weren’t any issues there. We talked through everything again and she decided to run some blood tests. One of them happened to be the MMA test and Homocysteine. She really wasn’t expecting it would produce anything and we were both surprised it did. When the results came back we had no idea what it even meant. The range for MMA was (87-318) I was at 7,180, homocysteine was 13.8. I know now these numbers aren’t as high as others with an MMA diagnosis but it was very scary for me especially since there was zero information online at that time on adults with elevated MMA. My doctor didn’t know what it meant for an adult especially at my age, she could only find infant cases. My childhood didn’t have a lot of health challenges, tonsillectomy at 3, a lot of ear aches, and strep throat several times in my teens which seemed like an annual event, but nothing metabolic. My doctor referred me to Stanford’s Children's Genetics Department. I saw Dr. Enns and Laurel Calderwood. They went through everything, ran my genetic testing and all my labs again. They were able to confirm ACSF3 is where the genetic defect is. The only thing they recommended was a reduced protein diet and B12 injections. The good news is CMAMMA was a more benign form of MMA, although they know very little about it. What I did learn is it causes hypoglycemia, adult onset usually comes with a decline in thinking ability and memory loss. I do have these, I’ve always struggled with blood sugar dips causing shaking hands and sweating so I’ve always eaten protein to combat this issue which was then causing an MMA build up. I had no idea what was helping one problem, was causing another. The memory loss has started, which is scary, I am the one in our group that has all of the childhood stories and those are slipping away slowly or I really have to dig them out of the recesses of my brain. I always knew bands names and people’s names, but now with those I’m starting to draw blanks. I wish I knew how to slow this down. They didn’t test for CMAMMA in the US at birth, however Canada had started a study at infancy and they have followed those diagnosed for the past 20 years. I was told when I was first diagnosed that I was somewhere around the 23rd person diagnosed. I understand the numbers to be higher now but that was scary to hear, with so few how do they really know what the long term health is for someone living with CMAMMA? My other health challenge is Hashimoto disease and was diagnosed at 16 years old by a doctor at Stanford. It’s an autoimmune disease where my body has destroyed my thyroid. So I have CMAMMA as my body's baseline, and a destroyed thyroid on top of it, now menopause. I learned that my body doesn’t process 5 amino acids through the Krebs cycle into the mitochondria so I don’t get the energy my body needs and a destroyed thyroid also causing energy issues. I have always had to force myself to do things, my comfort zone is resting and reading so I have issues with weight that started in my 30s. I’ve been trying to find the right diet for me, but it’s something I’m still struggling with. I have always been a meat eater, but I wonder if we do better on a plant based diet? I've always had a strong work ethic which leaves me spent most days and then I get a second wind around 9 pm, when what I really need is sleep, I end up awake late most nights.
I joined the MMA/OAA group on Facebook and met a woman Carrie who also has CMAMMA and she was so helpful. She called me and talked me through her health issues which are so different than mine which puzzled me more. She was headed to the NIH and gave me all of the contact information. I was quickly signed up to go in January of 2019. Meeting Dr. Venditti and his team was amazing and they taught me a lot. They tested everything, it is exhausting but so worth it. They were looking for yellow spots on my retina, lesions on the brain, heart muscle issues, muscle weakness and many other things. I spoke with a dietician and with Jen Sloan a geneticist who helped explain that all meat has the same 23 amino acids, which include the 5 we don’t process. So there wasn’t a way to avoid the amino acids that build up. Jen also learned from the blood work that my genetic tests show a new variant to ACSF3 she hasn’t seen before and had no idea what that means. She was going to flag it to see if it pops up in another patient. I thankfully didn’t have any of the other conditions that have been found in other patients. I know as this comes up for people as adults it can be very scary and confusing and I don’t know if my story will help give anyone comfort to know they don’t think it’s life threatening. My memory issues and processing isn’t what it used to be, and I pray this doesn’t mean I will slowly lose my ability to process information. Dr. Venditti instructed me to never do the Keto diet which is how I put the 2 together as a trigger for my symptoms, he also said not to fast ever! I did the B12 injections for a few months. It helped a lot in the beginning but then I didn’t seem to notice a difference, it was expensive because the insurance doesn’t cover it. I also had a very high B12 blood test so I am not confident my body was using what I was giving it. My levels were up to 16,746 so I caution anyone to carefully monitor your blood work while doing injections. I try to maintain between 40-60 grams of protein daily. If I eat excessive protein the weird headaches come back but at least I know what’s causing it. I added more fruit and vegetables to keep my blood sugar stable. I just wish I understood exactly what the long term effects are. That question remains a mystery as no one knows the answer to that yet. I know there is another female in her 60s who is doing well, but I continue to research and ask questions. I am also still in the care of Dr. Enns and go to Stanford just to check in, and I will return to the NIH in a few years. They asked if I would come back every 3 to 5 years, or if I have changes in my health. My heart goes out to families with children with the more serious conditions, I love how this community helps and supports each other.
Holly
California
alcornh1118@gmail.com
From the Spring 2020 OAA Newsletter