Re: Re: New - whitney

[Guest guest]

Whitney:

I saw your message regarding your son having a MITO and a fatty oxidation disorder. I was wondering how you treat? We were on a low fat high carb for suspected SCAD only and when the mito (unspecified) played in we were told to change his diet to increase the fat and lower the carbs. I don't know how comfortable I feel doing this given the fat is harmful for the fatty oxidation disorder. I would love to here what advice you were given for the duel diagnosis.

Thanks

Tina Engelson

Mom to Engelson 3yrs old Mito & SCAD

Re: New

Hi Vicky,I too have an 8-month-old baby boy and their backgrounds sound very similar. My guy, , was also severly jaundiced and hospitalized for high bilirubin. He was diagnosed early with low tone in his trunk and neck (he has since developed some high tone in his legs), reflux, and failure to thrive. He was constantly dehydrated and struggling to eat, so after several hospitalizations, he got a G-tube at 4 months. At that time, our primary concern was his feeding problems, but his neurologist thought it might be a good time to take a muscle biopsy since he was having surgery for the G-tube placement anyway. The biopsy came back six weeks ago with a diagnosis of a complex I defect as well as a fatty acid oxidation disorder. also has had normal MRIs and a normal MRS, as well as normal blood tests (no elevated pyruvate or lactate--this, I am told, is very possible). So we had essentially no other signs that he had mito other than the muscle biopsy. also had a floppy head and just began playing with toys recently. He held his head up at 5 months, and is beginning to learn to roll. We're working on sitting, but it's a long process and we aren't very close yet. He gets PT twice a week and speech once a week. Like Caden, he looks like a totally normal Gerber baby.I highly suggest you seek a muscle biopsy as part of Caden's work-up. It IS an invasive surgery, but you can gain very valuable information and it can either rule things out or give other clues to what may be going on with Caden. I have heard it can also give a false negative, but I know many mito specialists take the clinical picture into consideration in those cases. I wish I could help you more with your questions, but I'm afraid I am in the same boat as far as the question of more children, how to cope, and what the future will hold. We have a healthy two-year-old daughter. Some days I can take it day by day and am fine, but other days are not so good. I have heard this is all part of the "journey". Good luck to you! You're doing a great job--Whitneymom to --mito complex I/fatty acid oxidation disorder> Hello everyone! I have been lurking for about a week or so just > reading up on what you all go through with mito dosorders. Let me > introduce myself.....My name is Vicki and I am the mother to a > beautiful 7 mo. old boy named Caden. He was 2 days over due and I > was induced. He weighed 8 lbs. 3 oz and was 21 in. long. When > Caden was born, his low blood sugar kept us in the hospital for an > extra day or 2, then his jaundice reared it's ugly head. After we > were finallly released to go home after 6 days in the hospital, we > were home for 2 days where Caden threw up everything he took in. We > were re-admitted that Friday and were flown to another, bigger > hospital on Monday. It was there that his 2nd upper GI showed > severe reflux. He was put on 3 meds: reglan, bethanichol, and > zantac and they seeme d to control the reflux enough for us to go > home. When Caden was about 3 months old, we noticed he wasn't doing > some of the things that other babies born just days before him were > doing, such as tracking with his eyes, attempting to hold his head > up, look at toys or grab for them, and so on. We went in to our ped > with our concerns and he referred us to our rehab center for PT and > OT. We go twice a week. It was here that they told us that Caden > had low muscle tone. I have a friend who's daughter has low tone, > so I didn't concern myself too much with it. He also referred us to > a ped. opthamologist. When the optha. looked into Caden's eyes, > they were perfectly normal, so he should have been seeing fine. He > thought maybe it was just slow development. Then we saw a > geneticist. She saw nothing wrong with Caden, told us his low tone > was only in his neck and trunk, and took blood for a chromo. study, > which came back normal. Caden had passed his newborn screening for > his ears with each ear at different times, so the rehab center > wanted him to pass an ABR hearing test which went miserably because > he woke up screaming with reflux in the middle of it. He later had > an EDG and ph probe done to measure his reflux and correlate his > reflux with his screaming. They did another ABR while he was out > and he failed again. His ph probe showed mild reflux now and the > probe showed he wasn't refluxing when he was crying and vice versa. > We then went to an ENT who put tubes in Caden's ears because he had > a 20-30% hearing loss due to fluid in his ears from the reflux. > This helped his hearing tremendously! The second tme we saw the > opthamologist, he seemed to think, as we did, that Caden's eyes were > getting better. He then told us that he wanted to know what the > neurologist had to say about Caden. Now, we are at 7 mos. and 1 > week old and Caden still can't hold up his head and we are no where > near sitting. We saw the neurologist on May 4. We went in thinking > Caden might have CP, but were still hopeful because he had a normal > CT scan and EEG performed earlier...about 4 months old. Wehad > thought he was having seizures at one time, but the tests came back > normal and we haven't seen the behavior again. The neurologist > dropped a bomb on our world. I can't remember much of the appt. > after he said something was wrong with Caden's brain, but my husband > said he mentioned Mitochondrial disorders. He ordered an MRI/MRS > which we had done this past Wednesday and should get the results > from today. He was looking for encephalopathy (?) and basil ganglia > lactose in his brain. Does this sound familiar to anyone? He is > basing his observations on the facts that: 1. Caden's low tone, 2. > His inability to communicate with the world, and 3. His constant > movement. Caden coo's all the time, but he can't reach out and grab > for things he wants and so on. The neuro said based on those 3 > things, that it could be a long list of things and he wouldn't give > us any names of anything. Caden is the most beautiful baby we have > ever seen. (an unbiased opinion!) He looks perfectly normal when > you see him. Besides his reflux, he really hasn't been sick at > all. He eats great and always has. He has the most beautiful smile > you have ever seen. He is our first child and the first grandchild > on my side of the family. You can imagine how spoiled he is!! He > has all these toys that he can't play with. We know he can see > light, because he always turns towards it and he laughs at shadows > that pass his face and loves peek-a-boo. I look back now and wonder > about all the screaming that we thought was reflux pain and I wonder > if that was really what it was. The neuro. gave us best case > scenario is Caden being able to take care of himself one day and > worse case scenario is "shortened life expectancy." took > that as to be 30 yrs old, I took it to be MUCH less. Of course > after we saw the neuro, we went home and started researching mito > dosorders and found some info we wished we hadn't had to read and my > husband decided my interpretation of shortened life expectancy was > more accurate. > > Well that is our story....now I have a few questions. Any info > would be greatly appreciated. If Caden has a mito disorder, what do > I need to ask for next? Is a muscle biopsy the next step? I know > we need to be able to have it done fresh, not frozen if so. Does > Caden's story sound familiar to any of you? Does it sound like > mito? If Caden can't hold his head up yet, can I ever expect him to > be able to?? What about sitting, walking?? Do I need to be doing > something different for him now, in the mean time?? What else do we > need to know?? How do you cope day to day? Did I give this to my > son? Will I ever be able to have more children? Will they have > mito also?? HELP please! I appreciate you all reading my long post > and any info you can give us.> > Vicki & > Caden: 10/08/03 Reflux, laryngomalacia, low tone, possible vision > impaired, possible mito disorder..Our wonderful "noodle"!!Please contact mito-owner with any problems or questions.