Guest guest Posted May 28, 2004 Report Share Posted May 28, 2004 Hi my name is Liz and I have a son, Milo [14 months old] who is suspected of having COX deficiency or Leigh's Disease based on his March 2004 MRI results. He just had a muscle biopsy here at UCSF (san francisco) and they sent the frozen muscle to Columbia in NY. His MRI shows symmetric irritation/inflammation of the brain stem and basal ganglia. His docs would not give a prognosis except to say he will either improve a little or start to deteriorate. Everything I read about Leigh's is very negative. They did put him on COQ10, Vit C and Carnitor. He has had seizures since he was 2 months old, is hypotonic and delayed. He can roll over but cant sit unasissted or walk. He has never had feeding problems. So I was very interested in reading about Dr. Shoffner and the Fresh vs. Frozen debate. Milo's neurometabolic doctor feels that the frozen biopsy is as accurate and I guess I also wasn't excited about making a big trip to Atlanta or Cleveland and coming home with a fussy baby. I am hoping that the frozen biopsy does not turn out to have been a waste of time. We're also hopeful that they can find the gene causing the problem. There is no chapter of UMDF in my area, (Northern CA) but I did join the UMDF, its been a great resource. Thanks for reading! Liz, mom of Milo [14 mos] Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 1, 2004 Report Share Posted June 1, 2004 Hi Liz, welcome to the group, sorry you are here though. This place is a wealth of info as you will soon find. My daughter hailee is 6 and has suspected mito for the last 3 years now, with no answer as to what form. We have had two frozen biopsys never a fresh. From what i have read fresh is better and if your able do fresh, we arent able to.. My daughter has seizures since birth, she is on 3 meds and has a vagul nerve stimulator. I hope you get some answers and Princess hailee Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 1, 2004 Report Share Posted June 1, 2004 Welcome to the group. It is true that fresh muscle biopsies are definatly more accurate, but if he already has some obvious signs on the MRI I would not worry too much. The fresh are needed much more, when the sypmtoms are not as definitive. Leighs is one of the types that is a little better understood than some of the others. We have been told we will probally never understand my daughters nonspecific type, so far she is the first of her kind. As far as the outlook goes, on paper it never really seems too positive. I am not trying to scare you, but yes it is true many children do not survive this horrible disease but, many do survive and can potentially live pretty "normal" lives. You really need to be excited when your child reaches new goals, no matter how small. Each child with this disease does differently. There is no way of knowing how each individual child will do with this. Before my daughter started medication for this, we really did not know if she would live or not. Her poor little body was taking on so much more than it could handle. Now (after about 1 1/2 years from the start of our journey) she is doing well. True, she will always take a ton of medications (I think the current count is about 12 prescriptions twice a day), and she will always have some problems, but to look at her she looks great. She is a rotten little two year old (well next week that is). She gets into trouble and I can't be any more excited about it. Hang in there, this disease is rough to the parents and the child. If I have learned anything from this it is to cherish each day to its fullest. I try to learn everything I can (without being consumed by it), and I am prepared for the "what if". Again welcome to the group. Please feel free to ask anything around here. Everybody here is so supportive and so full of information. Best wishes. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 1, 2004 Report Share Posted June 1, 2004 Liz hi my name is shannon .... i also had a little girl that had leighs disease... she did every thing you said but she had feeding problems to ... BUT LET ME TELL YOU A LITTLE SECRET OKAY EVERY CHILD AND BABY IS DIFFERANT . you are going to hear a lot about other peoples disease in this but yours is differant just like every one elses so dont be upset when you hear things about this disease.. yes it is poor out come on this disease.. they told me she would not make til her first birthday and yeah they was right she passed a six monthes eight days but like i said every one is differant brandys disease progressed on her rapidly she got a simple head cold like we get and it just took her down from there but you dont worry like i said every one is differant okay ... i will keep you and yours in my prayers.... and another thing about biopsy brandy had one done but it never showed nothing so i put her through a surgery she didnt even need ... but i looked at like hey they might by some lucky chance find somthing in the biopsy that might help another kids life.. BUT ONCE AGIAN EVERY CHILD AND BABY IS DIFFERANT OKAY SO PLEASE KEEP A CLEAR MIND ON THAT ..i hope i helped you alittle you can also go and read some of the storys in personal journeys my little girl is in there too... but you will have to keep a clear mind on this cause if you dont you will loose your mind okay if you need to talk to say hey shannon... your friend shannon Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 1, 2004 Report Share Posted June 1, 2004 Hi Liz and welcome. My name is Bethany and I have a 4.5 year old daughter, dx with leighs. She was first given the mito dx from an abnormal MRI (also basal ganglia) and then we were off to Dr. Cohen at Cleveland clinic. A year later she was sent to Dr. Shoffner in Atlanta for the muscle biopsy, which confirmed leighs. Grace is nonverbal, nonambulatory, and gtube fed. She can crawl to get where she wants to go and then she communicates through verbal sounds and facial expressions. She is a very social and happy child. She attends preschool three mornings a week and will attend kindergarten in the fall. I can't tell you much about the frozen vs. fresh issue, since our only experience was fresh. Please feel free to ask any questions. Bethany mom to Brennan 7, Palmer & Grace (leighs) 4 > Hi my name is Liz and I have a son, Milo [14 months old] > who is suspected of having COX deficiency or Leigh's > Disease based on his March 2004 MRI results. He just > had a muscle biopsy here at UCSF (san francisco) and they > sent the frozen muscle to Columbia in NY. > > His MRI shows symmetric irritation/inflammation of the brain stem and > basal ganglia. His docs would not give a prognosis except to say > he will either improve a little or start to deteriorate. Everything I > read about Leigh's is very negative. They did put him on COQ10, > Vit C and Carnitor. He has had seizures since he was 2 months old, is > hypotonic and delayed. He can roll over but cant sit unasissted > or walk. He has never had feeding problems. > > So I was very interested in reading about Dr. Shoffner and the Fresh > vs. Frozen debate. Milo's neurometabolic doctor feels that the frozen > biopsy is as accurate and I guess I also wasn't excited about making > a big trip to Atlanta or Cleveland and coming home with a > fussy baby. I am hoping that the frozen biopsy does not turn out to > have been a waste of time. We're also hopeful that they can find the > gene causing the problem. > > There is no chapter of UMDF in my area, (Northern CA) but I did join > the UMDF, its been a great resource. > > Thanks for reading! > > Liz, mom of Milo [14 mos] Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 2, 2004 Report Share Posted June 2, 2004 Dear Liz, welcome to the group. I think Dr. Saneto (another mito doc) told me that if you get a result showing a mitochondrial deficiency with a frozen biopsy, it's not wrong, it's just that sometimes you don't get as much information as out of a fresh biopsy. I think everyone would like to have fresh, however, it's difficult, costly and there are very few centers that even do fresh now. Hopefully that will change in the future. I'm sorry your little guy has such troubles. Cindy, mom to Seth (13 tomorrow-can't believe it) and Ben (8) > Hi my name is Liz and I have a son, Milo [14 months old] > who is suspected of having COX deficiency or Leigh's > Disease based on his March 2004 MRI results. He just > had a muscle biopsy here at UCSF (san francisco) and they > sent the frozen muscle to Columbia in NY. > > His MRI shows symmetric irritation/inflammation of the brain stem and > basal ganglia. His docs would not give a prognosis except to say > he will either improve a little or start to deteriorate. Everything I > read about Leigh's is very negative. They did put him on COQ10, > Vit C and Carnitor. He has had seizures since he was 2 months old, is > hypotonic and delayed. He can roll over but cant sit unasissted > or walk. He has never had feeding problems. > > So I was very interested in reading about Dr. Shoffner and the Fresh > vs. Frozen debate. Milo's neurometabolic doctor feels that the frozen > biopsy is as accurate and I guess I also wasn't excited about making > a big trip to Atlanta or Cleveland and coming home with a > fussy baby. I am hoping that the frozen biopsy does not turn out to > have been a waste of time. We're also hopeful that they can find the > gene causing the problem. > > There is no chapter of UMDF in my area, (Northern CA) but I did join > the UMDF, its been a great resource. > > Thanks for reading! > > Liz, mom of Milo [14 mos] Quote Link to comment Share on other sites More sharing options...
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