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  • DylanJames3MCC
    I had ever seen and then went over all of his results with me He explained the elevations in his urine and blood work were consistent with 3MCC They were stumped though because his elevations were only 2 to 5 percent higher than normal instead of the 10 to 20 percent elevation they had seen with other 3MCC cases With this result we were instructed to do more blood work and urine analysis Once the blood was drawn we drove back home and waited for the results About two weeks later I received the call that Dylan s blood work and urine analysis was consistent with the other results and that he should begin taking 75 ml of L Carnitine twice daily He was not put on any diet restrictions because studies had been showing that limiting the protein intake in some of the other 3MCC patients was actually making those patients protein deficient Dylan was on Good Start formula and ate the same foods that his older sisters did He has always been in the small percentile rank among other children his age for his weight and height falling in the 3 to 5 percent but the doctors did not seem concerned by this In March 2010 the geneticist took a small piece of Dylan s skin to grow cells from it so the enzyme levels could be studied A couple of months later we received a call from the geneticist and once again he was stumped Out of the three enzymes studied all enzyme activity came back within normal limits Shands HealthCare called the University of San Diego where the cells had been sent and asked them how many times had a child with 3MCC had come back with normal enzyme activity Their response was that out of 300 cases studied Dylan was one of three that came back with normal enzyme activity The genetic team dubbed Dylan their Medical Mystery because they have not seen any other case like his where elevations were consistent but on a lower level and enzyme activity is normal Our next step was to do DNA Sequencing on Dylan s MCCC1 and MCCC2 genes These are the two genes where mutations can exist causing the defect and hence giving the term 3MCC In August 2010 we received the results and found that Dylan has a mutation on his MCCC1 gene The mutations are G45E and V439L Dylan is still dubbed their Medical Mystery because they have never seen this mutation before The genetic counselor believes that the mutated gene runs in both families for a very long time and that it finally took Dylan s dad and me to combine them Overall Dylan is a healthy three year old We have been to the emergency room several times once for pneumonia and all others for unexplained high fevers The high fevers the highest being 105 5 always led to a stay in the hospital for a couple of days so he could

    Original URL path: http://www.oaanews.org/DylanJames3MCC.htm (2012-10-25)
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  • Kristie Lee and Johnny | OAA
    and Simone PA Marc Antony MMA Cbl C Martha PA Matthew MMA Cbl C Maximus MMA Mut 0 Max MMA Cbl C Melissa PA Meredith L2HGA Michael Cbl C Michael GA 1 Michelle MMA Mut 0 Nathan GA 1 Nikki GA 1 Piper Cbl C Sage IVA Sam IVA Sapien MMA Cbl A Sherry D2HGA Simona PA Sophia Charlotte MMA Mut 0 Stephanie Luke MMA Mut 0 Stephanie Jack D2HGA Teegan PA Tre GA 1 Tyler MMA Cbl A Vincent MMA Mut 0 Zachary GA 1 Kristie Lee and Johnny 3 MCC 3 Methylcrotonyl CoA Carboxylase Deficiency This is an update on my children Kristie Lee who is now 13 and Johnny who is now 8 Johnny was born September 20 2000 He seemed to be a normal We were told to make an appointment with a specialist at a Metabolic Clinic as soon as possible We met with Dr Paige Kaplan at Children s Hospital of Philadelphia on Oct 1 2000 After 4 hours of testing and consultation our son s diagnosis was confirmed We were told how fortunate we were that because of the advanced newborn screening tests this disorder was diagnosed early and if we followed a diet consisting of little or no protein he could probably lead a normal life without any major complications We were also asked to bring in our daughter Kristie to be tested to see if she was a carrier On Oct 23 we received the results of Kristie s tests she also tested positive for 3 MCC This was quite a shock as along with our son Kristie has never showed any signs of illness aside from the usual colds and flu I still didn t understand it fully so I looked online where I found the OAA support group which

    Original URL path: http://www.oaanews.org/KristieJohnny.htm (2012-10-25)
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  • Adrian & Gabriel | OAA
    and Gabriel Adrian s history was published in the 2007 summer edition of the OAA newsletter Well its been a while and a lot of water went under the bridge We chose to have a second child Gabriel Making that decision was one of the hardest things Lorena and I thought about it for quite a bit A lot of things went thru our minds and lots of what if but finally we decided it was time and what with all that we learned with Adrian will really make a difference Gabriel was born January 21st 2008 It was a quite pregnancy I took a lot of planning to receive the new member of our family Here in Bolivia we don t have all the resources to test for this disorders and the medical staff is not prepared to treat any complication also So we have to do a lot of planning We made the decision to have a C section first thing in the morning so we could have plenty of time to collect the samples and send them to Buenos Aires Argentina in a DHL to have them tested So I did We collected blood samples from the cord a 12 hour sample and a 48 hour sample and sent them to have them tested Besides that everything was perfect Gabriel came to this world at 6 50 am and weighed 3 350 gram and measured 50 cm 7 4 lbs 19 7 inches He was healthy pink and beautiful We went home after 2 days at the hospital The next Friday I received a mail from the doctor in Buenos Aires to contact him ASAP That night he told us that the tests came back positive for 3MCC as his brother Adrian And the same night we

    Original URL path: http://www.oaanews.org/AdrianGabriel3-MCC.htm (2012-10-25)
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  • Cutter | OAA
    nothing of it Just a few days later we received another call asking us to have him at Lebonheur Children s Medical Center Memphis TN the very next morning for further genetic testing At that point we started to panic Only having been told he possibly had an organic acidemia I went to the internet to look that one up and WOW I was in a much deeper state of panic after having read up on that So at that point we thought our child was going to end up brain damaged After that visit and round of tests we got a diagnosis at 3 weeks of age 3 MCC 3 Methylcrotonyl CoA Carboxylase Deficiency It may as well have been in a foreign language because we had never heard of such But we did get some relief in hearing from the genetic team that most of the negative cases we read about on the internet were due to lack of early diagnosis treatment We also learned that the expanded newborn screen which caught Cutter s disorder had only been mandated in MS just months before his birth Thank God for that From that point on Cutter had to be taken to this clinic every month to see a geneticist a nutritionist and have blood drawn He was put on a metabolic formula I Valex and we were told he must consume a certain amount of this every day for essential growth and development And he was started on a Carnitine supplement which he had to have twice per day We also had to get a gram scale and weigh all of his baby foods as he could only have a certain amount of protein per day once he started on these foods I must say for the most part the first year of his life we were extremely overwhelmed by this disorder and very protective of our boy We were terrified someone would give him meat or high protein foods so we were afraid to let him go anywhere without us Although Leucine is the main culprit that would be toxic to his neurological system if too much of it builds up we have only had to restrict his total protein intake on a daily basis His nutritionist lets us know exactly how much he can have depending on how each of his blood draws goes at clinic The clinic visits got farther apart once they realized Cutter was very stable We now only have to go every 6 months unless his lab values are off We have been so fortunate and so thankful for newborn screening If it weren t in place who knows where we would be or if we would still have our child Cutter s genetic team keeps a close watch on him and keeps him on a very strict vegetarian diet To this date every pathology report on Cutter has been great His genetic team is even in awe over how wonderful and healthy

    Original URL path: http://www.oaanews.org/Cutter3MCC.htm (2012-10-25)
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  • Stephanie & Jack | OAA
    all that was wrong started researching everything about chromosome 12 A few days after we got back from our holiday I went to see the paediatrician There was this other thing an increased 2 hydroxyglutaric acid in her urine but they d have to send it off to Amsterdam in Holland for further testing to see if she had the D type or L type The Paediatrician seemed not too concerned about it It came back weeks later that Stephanie had D 2 hydroxyglutaric aciduria They told me it was very rare and at that time there were about 40 known cases worldwide even now there are less than 100 known cases There is no known treatment or no cure such heavy words to hear How was it that I was able to meet and marry a man who is a carrier of the same unknown defective gene I can t even imagine the odds of that Soon after this all the appointments started Stephanie also started taking CoEnzyme Q10 since starting it she is rarely sick and I feel it has really helped boost her immune system as well as helping minimize the effect of D2HGA She also had to have baselines for all her organ systems so we could monitor the changes over time due to degeneration It was such a tragedy for me to know everyday she will be a bit worse that today she is healthier than tomorrow As a mother it s a hard thing to take During this time and still today I have become so frustrated with the doctors and specialists I ve always been one to want to know Stephanie s test results as soon as they re ready it s probably the lab tech in me I felt the doctors were unwilling to share those results they treated me like I didn t need to know that when in fact I did It would ease my mind to know what was going on with her I could understand what was going on in her body and most of all it would help me to prepare questions for my next visit There was one glowing exception our geneticist I could email her and ask questions my need for results and information was understood If not for this doctor I don t know how I would have managed In June of 2004 we had another baby a girl we named Martina I was so afraid she would have D2HGA but she didn t I was so happy to have her she was my 3rd child Stephanie unlike other 5 year olds was not interested in the baby at all She didn t want to help or look at her I had to force her to be in a photo with her I was accustomed to her D2 ways and accepted this We had just had her psychological assessment done and her IQ was borderline for mental retardation In some parts she was at

    Original URL path: http://www.oaanews.org/StephanieJackD2HGA.htm (2012-10-25)
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  • Sherry | OAA
    their ER after a quick trip by ambulance Once there they confirmed my suspicion that Sherry had gone blind during her last seizure We were in ICU for a couple of days then PCU and then sent up to a room It so happened that the genetic metabolic team were working with a research group in Europe headed by Dr Cornelius Jacobs They were studying L 2 Hydroxyglutaric This was Sherry s initial diagnosis and I was told she would not survive 6 weeks and very likely be able to survive even another three weeks Typically children with L2HGA did not have the type of presentation and severity that Sherry had It was some weeks later that Dr Jacobs had come across some data published by Drs Chalmers and Nyhan et al in 1983 on an adult male who excreted d2h in urine and had a protein losing enteropathy The had no D2H found in blood serums or cerebral spinal fluid nor were there any elevations of GABA Dr Jacobs had then identified Sherry as having the D isomer of 2hga rather than L isomer There was no protocol for treating it We just did not know anything about it so she was give the same treatment regime as children with L2HGA We had a formula base called Product 80056 Promod protein and Polycose calories that I mixed with distilled water to their prescribed measurements By this time she was eating rice cereal and oatmeal mixed with her special formula She also loved bananas She was put on Riboflavin which she projectile vomited after every dose so this was discontinued She was also placed on carnitine we stopped giving her that when she was about 11 years old and maintaining a steady level on her own We were already on Reglan for reflux and by that time we were on Tegretol Phenobarbital Dilantin and Lamictal for seizures Being on 4 together were not maintaining seizure control We have been on every available seizure medication on the market We are currently on Zonnegran and Clonazapam and the biggest control means for her seizures and over all health has been cornstarch Sherry has been on ketogenic diet and failed miserably because of inability to metabolize the high fat content and low protein and tightly restricted carbs Myself and some others have found that they did better on high carbohydrate diets lots of starchy foods veggies and fruit She gets a lot of pastas and potatoes and bananas Sherry has had a lot of problems in between She had her g button put in when she was 1 1 2 years old Also when she was 1 1 2 she had her sister Grace She was the first amnio check for D2H and unfortunately had levels even higher than Sherry s I lost her mid term about 23 27 weeks on 12 28 92 I sent her body first to Houston and from there to Amsterdam If I had to lose her I

    Original URL path: http://www.oaanews.org/Sherry.htm (2012-10-25)
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  • Liam
    with no brain scan If they had done the scan they would have seen that Liam has a lot of fluid on his brain and his spaces are much wider Then time went by with me still concerned and on July 19 he had what I felt was a seizure It would have been easy to miss as it was minor with his arm and leg flinching I rang the doctor and while I was on the phone I got upset as I knew something was really wrong with Liam They told me go to ER but as the phone call went on they decided he should go to the doctor s office as it was closer I went in and they said it was a seizure he also had a little froth in his mouth An ambulance was called and Liam was taken to ER where he then spent 2 weeks with doctors scratching their heads We demanded to go private for the best care possible and we then received the best doctor there Liam s oxygen kept dropping to which the nurses kept saying it was only due to the machine because he was crying active and sleeping I became so angry since due to their poor treatment of us during his labour I had very little faith in them Eventually I lost my head with 3 doctors and I actually went dizzy from screaming so much I told them there is something wrong with my son and they must find out what it is The doctor had said the monitor was to stay on at all times and if his oxygen went below 95 he had to have a mask The nurses used to come in and turn off the machine every time it alarmed and I used turn it back on and give him the oxygen myself when it dropped One of the nurses decided to prove to me that it was the machine when his oxygen was at 52 but when she put the mask on it came straight back up She then was on our side and called the consultant in to see us I was furious that this happened as they only proved that they had been starving my baby of oxygen At some points in hospital they were calling him morbid looking They were also medicating for seizures and almost over medicated him with a very strong anti seizure med which was supposed to be every 24 hours but they tried giving it again 2 hours later except I wouldn t let them he was already practically unconscious Eventually Liam got a bed in the specialist hospital and 2 days later they told me he had epilepsy Liam had an MRI done I was told there was no damage but he had fluid on the brain and wider spaces Two days after being told he had epilepsy the door opened to 3 doctors and 2 nurses and I knew we were in

    Original URL path: http://www.oaanews.org/Liam.htm (2012-10-25)
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  • Nathan | OAA
    from the hospital When we arrived at the University of Minnesota we met with Dr Susan Berry The first thing she said to us was I m so sorry to have to give you this terrible terrible news She explained to us that Nathan s newborn screen came back and it appears that he has Glutaric Acidemia Type 1 however sometimes the test is not correct so they wanted to do some lab work to confirm the diagnosis I was terrified as she started to explain the disease to us Now looking back at that moment I wasn t even listening to her I was in shock and my entire body just went numb I was crying harder than I have ever cried before She assured us they would work with us and do everything they could do to try to prevent Nathan from having any negative reactions from the disease however she explained that there is no cure and no guarantees When we got back home the first thing I did was went on the internet and I was terrified about what I read One week later the test came back and they confirmed the diagnosis We were going to see Dr Berry once a week we met with a nutritionist we started Nathan on a special diet consisting of Glutarex 1 and Similac They did an excellent job explaining to us how to care for Nathan We learned that anytime Nathan gets sick with even a cold we would probably have to have him hospitalized The doctors suggested that if possible not to have Nathan go to a daycare due to the risk of getting sick more often Bruce is a self employed General Contractor and I also work full time and would not have the option of staying home with Nathan because I carry the health insurance coverage through the company that I work for We are very fortunate to have my parents My Mother retired about 1 year before Nathan was born and agreed to give up her retirement to watch Nathan full time so we could work We are very grateful to have such a wonderful support system My Father just recently retired also Nathan loves to go to Grandma and Grandpa s house everyday Besides Nathan not being a big eater the first couple of months were fine Then he was diagnosed with acid reflux and tortcullis which required us to start physical therapy and he was fitted for a helmet At 3 months of age Nathan had a couple of staring spells we seen a neurologist and Nathan was given an EEG The Doctor explained to us that the test was not normal but not abnormal and there was nothing to worry about At 5 months of age he began having episodes where his body would jerk forward These occurred in clusters several times per day whenever he would wake up from sleeping We took him back to the neurologist and had a

    Original URL path: http://www.oaanews.org/Nathan.htm (2012-10-25)
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