Friday, September 26, 2003
Danilo has an appointment to be measured for ankle braces on 10/3.
Thursday, September 25, 2003
IEP
IEP stands for Independent Education Program or something like that. Today Danilo had his LAUSD assessment and it went really well. He was in a great mood and very well behaved. First a psychologist and a speech therapist spent about an hour with him. He thought it was all play, but they got a lot out of him because he was very talkative. The psychologist determined that he has no cognitive problems and I could have told you that, but they had to check. The speech therapist determined that his speech problems are all in articulation and can be fixed. I should get reports form all these people in a few days. A very nice physical therapist and occupational therapist spent a long time with him. They will recommend both therapies. A nurse saw him too, but we have to go back on Monday for the hearing and vision tests. They lady who is in charge (I'm not sure if she is a social worker or what) is also very nice and seems flexible on a lot of issues like what school she will recommend. She thinks a collaborative classroom will be best for him. That is a classroom that has regular kids in it and special needs kids. I think that would be good too and they all agree that he will need a person dedicated to him at all times to help him walk around and make sure he doesn't fall. The PT lady said that the school will provide walkers, special chairs and a helmet. I'm going to visit a class at Shenandoah St. School with the lady in charge on 10/9. She says it's not the best school, but the special needs class is really good, but we'll see ... The big IEP meeting is on 10/23 and there they will lay out the contract. He should start soon after that. They got a California Childrens Services application and filled it out for me and all I have to do is mail it now. They also said I should keep calling Regional Center and get him assessed because they told me originally that he didn't qualify, but the LAUSD people are sure he does, but I have to be a "squeaky wheel" about it. I'll post the reports when I get them.
PT at Childrens H. is cancelled for tomorrow.
Tooth extraction is scheduled for Saturday at 8am.
PT at Childrens H. is cancelled for tomorrow.
Tooth extraction is scheduled for Saturday at 8am.
Wednesday, September 24, 2003
a random quote ...
"Believe it or not, a small percentage are not inherited, but occur spontaneously during fetal development, as if inheritance was not complicated enough. I remember reading a quote from one of the doctors researching this disease in an article. He said 'Mito disease is the most complicated disease known to mankind.' "
Thursday, September 18, 2003
Another puzzle piece
According to some people sho wrote in to the mito yahoo group, anxiety/panic attacks is a common symptom among adults who suffer from mito. Hmmm ....
Opsoclonus Myoclonus, cont'd
Here are some of the websites Margaret found that deal with Opsoclonus Myoclonus/ Dancing Eye Syndrome.
www.dancingeyes.org.uk/
www.geocities.com/opso-myoclonus/
www.omsusa.org/
www.hmc.org.qa/hmc/qmj/june2002/case/case3.htm
www.pediatriconcall.com/fordoctor/DiseasesandCondition/approach_to_ataxia.asp
www.dancingeyes.org.uk/
www.geocities.com/opso-myoclonus/
www.omsusa.org/
www.hmc.org.qa/hmc/qmj/june2002/case/case3.htm
www.pediatriconcall.com/fordoctor/DiseasesandCondition/approach_to_ataxia.asp
Opsoclonus-myoclonus
Margaret will post some more information about this syndrome. I think we need to find the link - if there is a link - between OM and Mito. Yes, they did find the ragged red fibers in Danilo, but his symptoms just don't sound like anything any of the other kids have on the mito yahoo list. I called the neurologist today to see if they have any new information and they don't. Here is something I found about OM:
Failure to find a neuroblastoma does not preclude it as a cause of opsoclonus-myoclonus because a neuro-blastoma may be difficult to find due to the possibility of spontaneous regression of the tumor. In 60% of patients the tumor is found within 3 months, but there may be a delay in diagnosing neuro-blastoma for up to 4 years after opsoclonus-myoclonus first appears.
They looked for neuro-blastoma in Danilo and didn't find any sign of it, but I suppose it still can't be ruled out.
Failure to find a neuroblastoma does not preclude it as a cause of opsoclonus-myoclonus because a neuro-blastoma may be difficult to find due to the possibility of spontaneous regression of the tumor. In 60% of patients the tumor is found within 3 months, but there may be a delay in diagnosing neuro-blastoma for up to 4 years after opsoclonus-myoclonus first appears.
They looked for neuro-blastoma in Danilo and didn't find any sign of it, but I suppose it still can't be ruled out.
Wednesday, September 17, 2003
No RP
3 ophthalmologists looked at Danilo's eyes today and not one of them could see retinitis pigmentosa.
He will see another ophthalmologist specializing in deviations (crossed eyes, for example) in two weeks....
He will see another ophthalmologist specializing in deviations (crossed eyes, for example) in two weeks....
Sunday, September 14, 2003
Ataxia Support Group Meeting,etc.
Went to the Ataxia Support Group meeting in Venice on Saturday. The fellow who runs the group, Sid Luther, lent me some video tapes of lectures from the last national conference on Ataxia. Will see if anything is relevant to Danilo's case. Most of the people at the support group meeting have Friederich's ataxia or one of the Spino-cerebellar Ataxias, so they weren't too familiar with mitochondrial myopathy.
Margaret has dug up some important information about a Dancing Eye Syndrome. One of us will post something about this soon. (Sid at the meeting said a Dr. Joseph Demer at UCLA has done a study on Dancing Eye Syndrome.Maybe keep this doctor in mind to contact at later date)
Margaret has dug up some important information about a Dancing Eye Syndrome. One of us will post something about this soon. (Sid at the meeting said a Dr. Joseph Demer at UCLA has done a study on Dancing Eye Syndrome.Maybe keep this doctor in mind to contact at later date)
Thursday, September 11, 2003
Just thought I'd mention that Danilo has an appointment on Saturday with the oral surgeon to see about extracting his front tooth.
Wednesday, September 10, 2003
The Muscular Dystrophy Association (MDA) Santa Monica office is going to mail a registration packet out to Oge. Spoke with Sandy 310-450-9032.
Yay! LAUSD just called me to schedule Danilo's school assessment. That will be on 9/26 and there will be nurses and therapists in abundance to "assess" him. The school is in the Marina, by the way. I believe it is called Short Avenue if anyone knows anything about it...?
I finally (!) made an appointment with the neuro-opthalmologist at Children's Hospital today. His appointment is Wednesday the 17th. Whew.... that took forever. . .
Tuesday, September 09, 2003
As Oge already told you, I went with her to Danilo's appointment with his neurologist Dr. Niparko this morning. Some test results from the muscle biopsy came in which show Danilo has mitochondrial disease. Further tests on the muscle biopsy will show what kind of mitochondrial disease he has, but they may take months more to come in. Here are notes from what the doctor said:
The knowledge about mitochondrial disease is changing every week. In the last few years information is being gathered by leaps and bounds.There are several diseases under the mitochondrial umbrella that are being redefined and renamed. Some are sporadic where one person in the family has it and the rest do not. Some can be tracked in families.
Current wisdom has said mitochondria come mostly from the mother, but she indicated there is some sort of challenge to that now.(She didn't go into detail on this point) The mitochondria function as the "lungs of the cell," but there are even different types of mitochondria as well.
[Notes are a little unclear] Mitochondria are made from 5-7 complexes. Different enzymes in the mitochondria break down energy for the cell. As the doctor said last time, the brain and muscles need more energy than the rest of the body. The diseases onset may have appeared when it did because there were more demands on Danilo's brain and muscles as he grew.
Under the microscope, mitochondria are normally red and show up here and there within a cell. With mitochondrial disease, they are gathered together in clumps. There is an appearance of "ragged red fibers." Special tests are needed for the different complexes. The specific treatment Danilo will need will depend on these results. Outcomes can vary widely. Only in the last 4-10 years have doctors even been able to diagnose these diseases.
She still recommends Danilo go to the geneticist,Dr. Wilcox later on. He will research the world literature on Danilo's specific diagnosis. This is more to find out what the implications are for the rest of the family and hunt down predictions for Danilo's case than to treat Danilo.
Niparko recommends Oge get hooked up with CCS California Children's Services for services. She recommends getting a print out of diagnoses that are eligible for CCS and she will write up a diagnosis in their terms since his disease is rare.
Niparko thinks Danilo will be eligible for the Muscular Dystrophy Association's help. There should be funds available through them.
She recommends Danilo make an appt. with a Dr. Sarnat's neuromuscular Clinic.(310-423-0294,secretary Arlene). Or there is another such clinic at the Orthopaedic Hospital downtown.(I think this is where Danilo had his appt. with the county govt. for Access Services -shuttle bus)
The person that interpreted the biopsy results was Ignacio Gonzalez affiliated with Children's Hospital (Not Sarnak as Niparko had previously indicated due to some insurance requirement)
Ciao,
Mun Mun
The knowledge about mitochondrial disease is changing every week. In the last few years information is being gathered by leaps and bounds.There are several diseases under the mitochondrial umbrella that are being redefined and renamed. Some are sporadic where one person in the family has it and the rest do not. Some can be tracked in families.
Current wisdom has said mitochondria come mostly from the mother, but she indicated there is some sort of challenge to that now.(She didn't go into detail on this point) The mitochondria function as the "lungs of the cell," but there are even different types of mitochondria as well.
[Notes are a little unclear] Mitochondria are made from 5-7 complexes. Different enzymes in the mitochondria break down energy for the cell. As the doctor said last time, the brain and muscles need more energy than the rest of the body. The diseases onset may have appeared when it did because there were more demands on Danilo's brain and muscles as he grew.
Under the microscope, mitochondria are normally red and show up here and there within a cell. With mitochondrial disease, they are gathered together in clumps. There is an appearance of "ragged red fibers." Special tests are needed for the different complexes. The specific treatment Danilo will need will depend on these results. Outcomes can vary widely. Only in the last 4-10 years have doctors even been able to diagnose these diseases.
She still recommends Danilo go to the geneticist,Dr. Wilcox later on. He will research the world literature on Danilo's specific diagnosis. This is more to find out what the implications are for the rest of the family and hunt down predictions for Danilo's case than to treat Danilo.
Niparko recommends Oge get hooked up with CCS California Children's Services for services. She recommends getting a print out of diagnoses that are eligible for CCS and she will write up a diagnosis in their terms since his disease is rare.
Niparko thinks Danilo will be eligible for the Muscular Dystrophy Association's help. There should be funds available through them.
She recommends Danilo make an appt. with a Dr. Sarnat's neuromuscular Clinic.(310-423-0294,secretary Arlene). Or there is another such clinic at the Orthopaedic Hospital downtown.(I think this is where Danilo had his appt. with the county govt. for Access Services -shuttle bus)
The person that interpreted the biopsy results was Ignacio Gonzalez affiliated with Children's Hospital (Not Sarnak as Niparko had previously indicated due to some insurance requirement)
Ciao,
Mun Mun
