More of CJ6's history and Mito? -Sue

CJ6's feeding issues stem back to his first birthday. He would refuse food, gagging and throwing up on both of us. At first, I thought CJ6 did not want to get messy or that it was sensory based. At our 2 year well visit, I asked if his selective eating could be metabolic or due to allergies. I was told that he was growing and I should not worry. At age 3, I came back to the pediatrician with a child that had 5 foods he would eat without puking (all carbohydrates), and oh yeah......autism. At that point, I was told about early intervention. Fine, but what about a metabolic issue? Again, I was told "don't worry". Once we saw the dev pediatrician, he suggested a local metabolic geneticist. We started to rule out Fragile X, subtelomere microdeletions, FISH, etc... We did find that CJ6 was deficient in many amino acids (especially the branched chain and carnitine) ; He did the standard workup, but I never felt that we were getting anywhere with him. We still see this doctor because he has been monitoring CJ6's amino acids and prealbumin levels.
Not thinking there was a mitochondrial issue, we began working with a nutritionist. We tried to implement the Specific Carbohydrate Diet, however, CJ6 refused to eat...... for 7 days!!!!!! At this point, I knew that we needed a behavioral feeding therapist on board. 3 months later, we found Dr Dawson, who had been on the Kennedy Krieger intensive feeding team for years. She had just moved to Westchester University. We started the intake procedure and she said that we needed to run allergy panels first. Of course, up popped IgE egg and peanut allergies. Once this came back positive, she wanted us to do a thorough gi workup.
At the same time, I began talking to another mother whose daughter was diagnosed at 2 1/2 with autism. She had her daughter scoped at age 3 by both Dr Soriano at St Christopher's and Dr Krigsman. Both doctors found lymphnoid hyerplasia, significant inflammation and ulcerations in her daughter. Both docs agreed that her daughter should be put on sulphasalazine. Her daughter was scoped a year later, and the inflammation had disappeared. Her daughter is now 9 years old, has lost her diagnosis, is in mainstream classes, takes hip hop dance classes and had a spa birthday party! This woman's story became my dream and so I pursued the gi angle.
Before we moved to PA, the original dev ped had suggested that we see a ped gi doc that had put CJ6 on Elecare for low protein intake. It was only one appt. At this point, Dr Soriano had moved back to Chili and Dr Krigsman was not accepting insurance (which was out of the question). With this limited workup, we made an appt at a local hospital by default. After waiting 6 months to get in, I presented the doc with 25 gi related symptoms and then told him CJ6 had autism. The doctor scratched his head and asked me why I was not at the Autism Resource Center. I waited 6 months for this!!! I knew that I needed to go elsewhere! I needed to go to a doctor that specialized in scoping kids on the spectrum. This doctor would not have known what to look for and we certainly would have missed CJ6's sucrase-isomaltase deficiency. A month later, I spoke to another warrior dad that told me about Dr Buie up at Harvard Medical School. I called and got my name on his waiting list ASAP!
After talking to yet another warrior mother, I took that boys to Dr Jyonouchi, a research immunologist at UMDNJ. She is highly respected and has been recruited by NIH for years, but will not leave her lab facilities. (BTW, her son is a resident at CHOP working under Dr Orange. He often calls his mother to run workups on their patients.) Well, she ran cytokine profiles for both boys. The interesting part of this is that when she exposed CJ6's blood to milk, and soy, he made very high levels of interferon gamma. Wow! I am glad that we had already gone GFCFSF!!!!
I also spoke to another mother that told me that she thought her son had mito, and told me that CJ6 had red flags! I did some research on the UMDF's website and realized that we had already been doing a lot of the mito cocktail, but just added in CoQ10 and Vit E. What I found very interesting was that both CJ6 and TR2 made huge gains when we put them on Acetyl Carnitine!
We finally got to see Dr Buie in April, and we scheduled CJ6'S scope for July 31st. (He is one busy man!!!!) Leading up the scope, we stopped all supplements 2 weeks in advance, and CJ6 began throwing up. It was not until we were in the car to Boston, that I realized he had not pooped in 2 weeks. Nothing can go in if nothing is coming out! We began the 2 day bowel prep with castor oil, magnesium citrate, ducolax, and miralax. At 8pm the night before the scope, I called the gi on staff and he said to do more ducolax, miralax and a saline enema. We got a little bit of feces out, but when Dr Buie went in, CJ6 was impacted through the descending, transverse, ascending colon and the cecum!!! He immediately prescribed Carnitor, which I immediately told him that we had stopped the acetyl Carnitine 2 weeks before when the pseudo-obstruction had begun. When we got the scope back, we found out that CJ6 did not have inflammation which Dr Buie claimed was because we had done lots of "steps to rescue him"(CFSF, elecare, gastrocrome, singulair). However, we did find out that CJ6 was infected with aeromonas hydrophila (a bacteria found in fish and only found in people that are immunosuppressed). We treated with two weeks of flagella. The biggest revelation is that CJ6 is deficient in lactase, sucrase and isomaltase!!!! Wow! He was already not ingesting lactose because of our CF diet. In August, we started giving him Sucraid and Kirkman's CarbDigest for the Isomaltase. In the last several weeks, we have seen huge bursts!!! So....then I wonder......if CJ6 could not digest the carbohydrates that he loved to eat, what were they doing......they were putrifying and serving as a good food source for yeast and bacteria.....which were undergoing fermentation.....which produce lactic acid, carbon dioxide, acetylaldehyde (so he was basically his own little distillery). Crazy, huh?
During our 6 month gi wait at the local hospital , our pediatric immunologist (who also happens to be a DAN doctor) had run the ammonia, lactic acid and pyruvate. I finally got my act together and showed them to the metabolic geneticist this past May. Of course, we ran the tests again in a hospital setting with his nurse that immediately put the blood on ice (for ammonia) and performed the lactic acid (without a tourniquette). When they came back high a second time, he discounted it, saying that CJ6 must have struggled during the blood draw, accounting for the high lactic acid levels. CJ6 did not struggle.
Dr Buie did not think that the results were insignificant and told us to pursue the mitochondrial angle. Back in July, we made an appointment for Dr Marvin Natowitc at the Cleveland Clinic for June of 2009!!!! Dr Buie told us to get some workup done before the Cleveland Clinic visit with Dr Marc Korson of Tufts University. We had to apply to this doctor and we have been accepted, so we will be up in Boston for that 5 hour visit on Dec 9th.
In April, I also applied to be a patient of Dr Zimmerman's since we had never had a neurologist on board. I knew that he was highly respected and interested in immunology. I figured that we should just rule out silent seizures that might be happening during sleep. We were accepted but waited until October for an appt. It just so happens that Dr Zimmerman showed CJ6's labs to a leading diagnostician!
I understand that mitochondrial disorders are a spectrum. Even having been told that the problem may lie in Complex I, I also know that there are over 36 different proteins that are responsible for transferring electrons from NADH to Complex II. The ineffiency might be genetic, but I am wondering if CJ6's lack of efficiency might have more to do with his heavy metal uptake. .........
Well, CJ6 has persistantly had low hemacrit, hemoglobin, and high coproporphyrins. The porphyrin profile indicates lead uptake, but our immunologist wrote a grant and paid to have CJ6 undergo a cadnium gamma x-ray fluorescence of his tibia at Mt Sinai in NY. His bone is loaded with lead (comparable to someone who has been stripping paint off bridges their entire life). Yes, we have had CJ6's blood serum checked repeatedly for lead and it was always <3 ug/dL.
So, his mitochondrial inefficiency might be simply related to his heavy metal uptake rather than a true primary genetic disorder. At least that is what I want to believe until I am told otherwise......