Re: Connor - Complex IV

[Guest guest]

Dyana,

I pray that you would know God's presence and peace as your family continues to come to terms with the passing of your son.

The journey that you describe sounds very similar to the journey we went through with our son who is now 9 years old (19-9-95) but was 14 months old before we got a confirmed diagnoses (through a liver biopsy after a clear muscle biopsy) of complex IV mitochondrial myopathy (COX), even though he started seizuring within an hour of birth. You can read about some of that journey at http://www.qai.org.au/documents/doc_124.doc or by going to http://www.qai.org.au/content/online_library_documents.cfm?ID=27#124 and opening the link to genetic doctors (just click OK 3 times if it asks you for a user name & password).

Here are some other links that you may find of interest specifically related to complex IV mito:

http://www.broad.mit.edu/media/2003/pr_03_leighsynd.html

http://www.icomm.ca/geneinfo/cox.htm

We believe has the French Canadian type of complex IV mito, according to the symptoms listed.

Please feel free to stay in touch - privately if you wish.

Regards,

, , (complex IV mito / 9yrs) & (very healthy!! / 7yrs) Savage - Queensland Australia.

Message: 15 Date: Fri, 25 Mar 2005 02:45:02 -0000 Subject: NewHi, my name is Dyana and I just had my son passed away from Cytochrome C Oxidase (COX IV). Connor was born on June 14th, 2004.I have two other boys from a previous marriage (no genetic disorders that we know of), and this was the first child between my fiancé and me. We had a normal pregnancy and delivery (he even had a 7 and a 10 on his APGAR) but about an hour after he was born he started to have seizures. He was on a vent for the first 19 days (off and on) due to the seizure meds. He remained on a nasal canula after that. I have a list of 12 active diagnoses' - sever reflux, in ability to swallow, neurological delays, hypotonic, etc. After two months and several tests - MRI, CT, EEG (which confirmed the seizures) Blood work-ups, and sleepless nights -we were told in a nut shell - "all tests (except the EEG) are coming back normal". When he was scheduled for a G-tube and fundo the geneticist ordered a muscle biopsy as a last check. On Aug Fri. the 13th of 2004 - I received the call. We can treat the symptoms; there is no cure, a few months IF THAT! Since there was nothing else to be done we made arrangements to bring Connor home and be a family for as long as we could - we still had hope. He was able to come home for two almost three weeks total. After a week back at ish Rite he passed away on Oct 6th, 2004 in my arms. There was only a 1% chance that my fiancé and I would even come together and only a 25% chance of this happening (and that is the % every time we get pregnant if we choose to have any other children together) why can't I beat odds like that in Vegas! We are sad but my motivation now is information, connection, support, information. Does anyone know of geneticist that would be interested in his case for research? Has anyone had a similar experience? What can I do to help promote further research about genetic and Mito specific causes? Any info will be appreciated: thirdborn_2004@...~DyanaIn Loving Memory of Connor Trey Sands IrwinJune 14, 2004 - October 6, 2004"Our little Prince"www.geocities.com/thirdborn_2004http://connor-irwin.memory-of.com/about.aspx