Last week, we had a follow up appointment with the newest addition to our medical team, a research-based biomedical/metabolic doctor based out of California who spends one week out of the month at an office a few miles from our house (what are the odds?) We reviewed the results of over a dozen recent tests, and discussed how Curren’s new supplements are going. Over the past month, I have learned so much about the metabolic and mitochondrial process, and some possible dysfunctions that Curren may have. I am absolutely not a medical professional, but I wanted to share some of the high level conversations we had in hopes that they may help others who are looking for answers. If you find anything of interest here, please run it by your doctor before trying anything (and these supplements are pretty far off the beaten path).
As a quick refresh to high school biology class, the function of mitochondria is to provide energy to your body at the molecular level. When your body doesn’t provide energy to cells effectively, it negatively affects your organs (particularly the ones that require the most energy, like your brain, GI tract, and immune system). Curren’s lab results show several markers for mitochondrial dysfunction, primarily based on elevated levels of multiple short-chain fatty acids. There are several supplements that Curren has been taking, in hopes of offsetting some of his metabolic abnormalities. We started the typical “mito cocktail” about a year ago - Carnitine, CoQ10, Probiotics, Coconut Oil, and Fish Oil - and have recently added some less common supplements to the mix.
Curren tested positive a variant of both copies of his MTHFR gene, who’s role is to provide instructions for making an enzyme that plays a primary role in processing amino acids. Our new doctor says that Curren’s double A1298C mutation causes a reduced ability to convert folic acid into an active form. Activated folate is required for the creation of every cell in your body, so you can imagine that it’s not good if the efficiency of that process is impaired. Folinic Acid provides Curren with the activated form of folate, without having to metabolize it. Folinic Acid is the primary treatment for Cerebral Folate Deficiency, a disorder that develops from a shortage of folate in the brain. Symptoms include the loss of previously acquired skills, intellectual disabilities, speech difficulties, seizures, and slow growth. Cerebral Folate Deficiency is being increasingly recognized to affect some children with Autism, Down Syndrome, Rhett Syndrome, and other metabolic and mitochondrial disorders, as noted in the medical publication below:
There are several issues related to our food sources that can inhibit cerebral folate absorption. Our human folate receptors sometimes react with folate receptors in cow and goat milk, creating a cerebral absorption blockage. Also, synthetic folic acid (which is unmetabolized and often found in foods “fortified” with folic acid) can compete with natural folates and cause problems. We are hoping that the folinic acid Curren is taking will provide metabolized folate to his brain, and hopefully normalize the seizure-like brain activity that was found on his EEGs over the summer.
Similar to the Folinic Acid, Methylcobalamin is the active form of vitamin B12 (the body does not need to convert it to a usable form). Methelcobalamin increases available physical energy, encourages detox, and supports brain and nerve health. Vitamin B12 is one of the most difficult vitamins for the body to absorb, so providing a large dose injected directly into fat gives your body the best opportunity for absorption and provides a slow release into the tissues . Methyl-B12 is water based, so any unabsorbed portion is filtered through the kidneys into the urine for removal from the body. Vitamin B12 works closely with folate (B9), so the two supplements together provide additional benefit. We have noticed almost immediate results from the B12 injections - the day that Curren crawled with assistance last week was the morning after an injection. The following day at therapy he didn’t try to crawl again, and we are curious if that was due to the effects of the injection wearing off. The injections are super easy (although I was pretty reluctant to sign up for this). The doctor gave us a prescription for a numbing cream, and we just do a little poke in his sleep and (now that we’ve had a few practice runs) he sleeps right through it.
I had never heard of low cholesterol being bad until last week. There are studies that show deficiencies in cholesterol as a common factor in children with Autism. The brain is the most cholesterol rich organ in the body, and cholesterol plays a very important role in brain function. Studies show that cholesterol promotes neurogenesis (the birth of new brain cells) and communication between neurons, and functions as a protective antioxidant for the brain. This is probably why there are stories about drugs commonly prescribed to lower cholesterol producing dementia-like effects in patients. Curren’s cholesterol levels are low, and we have started him on a cholesterol supplement. He most likely has a cholesterol absorption issue, since we already feed him lots of fish oil, coconut oil, grassfed organic butter, cheese, eggs, and whole milk. Reference the link below for an interesting read on the role of cholesterol in Autism treatment:
We are looking forward to positive effects these new supplements may have on Curren over the upcoming months. He seems to be tolerating everything well, with minimal side effects. We are grateful for the recent insight we were given, and are happy to find a doctor who is open to providing a treatment plan for our son.
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I am a mother, architect, wife, and a lover (not a fighter) - with a thirst for knowledge. My journey been recently refocused, as my family navigates through the world of medical and developmental uncertainty in hopes of providing every opportunity for my son to be his personal best in life.