Re: Update on search for Dylan's PDH mutation!!

[Guest guest]

Hi Lori

When Dylan's diagnosis was confirmed (through skin and muscle biopsies), the geneticist said the cause was most likely autosomal recessive or small chance it could have been a random episode. I am waiting to hear back from the geneticist as to where we go from here. I know how you feel, it's so hard when you desperately would love another child. I know this sounds a little ignorant, but I've always felt Dylan's case was random. I could so easily be wrong though!!

I am going to email Dr. up in Canada to see if he may have any ideas. Dr. at one point was theorizing that all these "nuclear" cases of mito were not auto-recessive - but sporadic....but he has not firmly concluded this - and has not published anything. I think he has had 3/30 showing up affected in Complex I ---- and similar for other complexes. Not sure about PDH. He offers free investigational pre-natal testing through Amnio. It's free as it's not guaranteed. Amnio at 15wks plus 4wks for testing, therefore pregnancy would be approx 19wks along. Yikes, that would be tough.

Anyway, I'll let you know what I find out!! How's doing??

(((Hugs)))

Heidi and Dylan 3 1/2 Mito disease (Partial PDH), Seizure disorder, severe low tone, CVI, Gtube fed and my little hero

[Guest guest]

Thanks so much for this info Bridget!! I am going to send the geneticist an email re this!

Heidi and Dylan 3 1/2

[Guest guest]

Heidi

Dr. Shoffner looked at all the genes coding for complex I in the mtDNA and found nothing. The doctors still think ours is maternally inherited because of the family pattern. I was hoping to find out so my sons, nieces, nephews, etc. would have an idea of how to plan families. I wish you had gotten the answers you were looking for.

laurie

From: Britchick0074@...

Reply-To: Mito

Date: Thu, 4 Jul 2002 14:19:58 EDT

To: Mito

Subject: Update on search for Dylan's PDH mutation!!

Approx 6 wks ago we sent a sample of Dylan's blood up to Dr. Shoffner's lab in Atlanta in the attempt to locate the mutation for his PDH (Pyruvate Dehydrogenase Deficiency). Dr. Shoffner felt confident that if there was a mutation, his lab could locate it. The following is the email sent to our Geneticist then forwarded on to us with the preliminary results:

The sequencing on Dylan Wheeler PDHE1 alpha is complete. There appears to be

no mutation. I want to look over it one last time and have Dr. Shoffner

review as well before we issue report. Just wanted to give you an update. We

will submit report as soon as the final review is complete. Thanks for your

patience.

Deborah Koontz,Ph.D.

I am expecting this to be the final result. I was expecting this!! Just don't know where to go from here. I am starting to wonder if Dylan's case could possibly be random. If that's the case, we would never find a mutation? Just frustrated I guess. We would love to have another child at some point.

Just wondered if anyone has any ideas or has been through testing to search for gene mutation.

Thanks!

Heidi and Dylan 3 1/2 Mito (Partial PDH), Seizure disorder, severe low tone, G tube fed, CVI, my hero

[Guest guest]

Heidi

Dr. Shoffner looked at all the genes coding for complex I in the mtDNA and found nothing. The doctors still think ours is maternally inherited because of the family pattern. I was hoping to find out so my sons, nieces, nephews, etc. would have an idea of how to plan families. I wish you had gotten the answers you were looking for.

laurie

From: Britchick0074@...

Reply-To: Mito

Date: Thu, 4 Jul 2002 14:19:58 EDT

To: Mito

Subject: Update on search for Dylan's PDH mutation!!

Approx 6 wks ago we sent a sample of Dylan's blood up to Dr. Shoffner's lab in Atlanta in the attempt to locate the mutation for his PDH (Pyruvate Dehydrogenase Deficiency). Dr. Shoffner felt confident that if there was a mutation, his lab could locate it. The following is the email sent to our Geneticist then forwarded on to us with the preliminary results:

The sequencing on Dylan Wheeler PDHE1 alpha is complete. There appears to be

no mutation. I want to look over it one last time and have Dr. Shoffner

review as well before we issue report. Just wanted to give you an update. We

will submit report as soon as the final review is complete. Thanks for your

patience.

Deborah Koontz,Ph.D.

I am expecting this to be the final result. I was expecting this!! Just don't know where to go from here. I am starting to wonder if Dylan's case could possibly be random. If that's the case, we would never find a mutation? Just frustrated I guess. We would love to have another child at some point.

Just wondered if anyone has any ideas or has been through testing to search for gene mutation.

Thanks!

Heidi and Dylan 3 1/2 Mito (Partial PDH), Seizure disorder, severe low tone, G tube fed, CVI, my hero

[Guest guest]

I may be way off, but isn't there E1, E2 and E3 involved in PDH? They thought my son Owen had PDH at one point so I read up on it quite a bit. E1 is the most common form if I remember correctly. Not sure if you would check E2 and E3 the same way. I hope this helps and does not confuse.

Sincerely,

Bridget Mom To Owen "water boy" Willis, 3.5 yrs, Complex 1 and Co Q 10 deficiency, PDD/NOS and the world's biggest belly laughand , 1 yr, developing well (thank God, everyday)

Update on search for Dylan's PDH mutation!!

Approx 6 wks ago we sent a sample of Dylan's blood up to Dr. Shoffner's lab in Atlanta in the attempt to locate the mutation for his PDH (Pyruvate Dehydrogenase Deficiency). Dr. Shoffner felt confident that if there was a mutation, his lab could locate it. The following is the email sent to our Geneticist then forwarded on to us with the preliminary results: The sequencing on Dylan Wheeler PDHE1 alpha is complete. There appears to be no mutation. I want to look over it one last time and have Dr. Shoffner review as well before we issue report. Just wanted to give you an update. We will submit report as soon as the final review is complete. Thanks for your patience. Deborah Koontz,Ph.D. I am expecting this to be the final result. I was expecting this!! Just don't know where to go from here. I am starting to wonder if Dylan's case could possibly be random. If that's the case, we would never find a mutation? Just frustrated I guess. We would love to have another child at some point. Just wondered if anyone has any ideas or has been through testing to search for gene mutation. Thanks! Heidi and Dylan 3 1/2 Mito (Partial PDH), Seizure disorder, severe low tone, G tube fed, CVI, my hero Please contact mito-owner with any problems or questions.

[Guest guest]

Heidi, Does the fact that they found no mutation rule out autosomal recessive disorders where nuclear dna and mitochondrial dna are responsible? Dr. S told us he thought that's what caused 's mito. In that case, there's a 1/4 chance. Still not good for future children. I'm currently mourning the fact that we will probably not have any more as a result. Big sigh . . . .

xxooLori

Update on search for Dylan's PDH mutation!!

Approx 6 wks ago we sent a sample of Dylan's blood up to Dr. Shoffner's lab in Atlanta in the attempt to locate the mutation for his PDH (Pyruvate Dehydrogenase Deficiency). Dr. Shoffner felt confident that if there was a mutation, his lab could locate it. The following is the email sent to our Geneticist then forwarded on to us with the preliminary results: The sequencing on Dylan Wheeler PDHE1 alpha is complete. There appears to be no mutation. I want to look over it one last time and have Dr. Shoffner review as well before we issue report. Just wanted to give you an update. We will submit report as soon as the final review is complete. Thanks for your patience. Deborah Koontz,Ph.D. I am expecting this to be the final result. I was expecting this!! Just don't know where to go from here. I am starting to wonder if Dylan's case could possibly be random. If that's the case, we would never find a mutation? Just frustrated I guess. We would love to have another child at some point. Just wondered if anyone has any ideas or has been through testing to search for gene mutation. Thanks! Heidi and Dylan 3 1/2 Mito (Partial PDH), Seizure disorder, severe low tone, G tube fed, CVI, my hero Please contact mito-owner with any problems or questions.

[Guest guest]

Heidi, Does the fact that they found no mutation rule out autosomal recessive disorders where nuclear dna and mitochondrial dna are responsible? Dr. S told us he thought that's what caused 's mito. In that case, there's a 1/4 chance. Still not good for future children. I'm currently mourning the fact that we will probably not have any more as a result. Big sigh . . . .

xxooLori

Update on search for Dylan's PDH mutation!!

Approx 6 wks ago we sent a sample of Dylan's blood up to Dr. Shoffner's lab in Atlanta in the attempt to locate the mutation for his PDH (Pyruvate Dehydrogenase Deficiency). Dr. Shoffner felt confident that if there was a mutation, his lab could locate it. The following is the email sent to our Geneticist then forwarded on to us with the preliminary results: The sequencing on Dylan Wheeler PDHE1 alpha is complete. There appears to be no mutation. I want to look over it one last time and have Dr. Shoffner review as well before we issue report. Just wanted to give you an update. We will submit report as soon as the final review is complete. Thanks for your patience. Deborah Koontz,Ph.D. I am expecting this to be the final result. I was expecting this!! Just don't know where to go from here. I am starting to wonder if Dylan's case could possibly be random. If that's the case, we would never find a mutation? Just frustrated I guess. We would love to have another child at some point. Just wondered if anyone has any ideas or has been through testing to search for gene mutation. Thanks! Heidi and Dylan 3 1/2 Mito (Partial PDH), Seizure disorder, severe low tone, G tube fed, CVI, my hero Please contact mito-owner with any problems or questions.

[Guest guest]

Heidi:

We had 's blood tested for her PDH mutation and she also does not have a mutation in the sequenced region...however she could have a mutation in the non-sequenced region. Our bio-chemical geneticists explained that these non sequenced regions are like the blank space between words on a word processor. So even though the sequenced regions (the words) are not mutated the spacers between the words could be and they throw everything off causing the PDH. Appartently these non-sequenced regioned cause something like 50% of all PDH mutations and those non-sequenced mutations also need to be checked however there is not a lab in the US that tests for them. There is a doctor in the UK that does the genetic non-sequenced region PDH testing however logistics and insurnace is a problem. His name is Dr Garry Brown and works out of Oxford. Here is a link to his contact information.

http://www.bioch.ox.ac.uk/rgroups/rgroupslist.asp

I have stopped activity searching for a lab in the us but perhaps there is one now. If you find one let me know...I too would love to have another baby.

Amy Porter

Update on search for Dylan's PDH mutation!!

Approx 6 wks ago we sent a sample of Dylan's blood up to Dr. Shoffner's lab in Atlanta in the attempt to locate the mutation for his PDH (Pyruvate Dehydrogenase Deficiency). Dr. Shoffner felt confident that if there was a mutation, his lab could locate it. The following is the email sent to our Geneticist then forwarded on to us with the preliminary results: The sequencing on Dylan Wheeler PDHE1 alpha is complete. There appears to be no mutation. I want to look over it one last time and have Dr. Shoffner review as well before we issue report. Just wanted to give you an update. We will submit report as soon as the final review is complete. Thanks for your patience. Deborah Koontz,Ph.D. I am expecting this to be the final result. I was expecting this!! Just don't know where to go from here. I am starting to wonder if Dylan's case could possibly be random. If that's the case, we would never find a mutation? Just frustrated I guess. We would love to have another child at some point. Just wondered if anyone has any ideas or has been through testing to search for gene mutation. Thanks! Heidi and Dylan 3 1/2 Mito (Partial PDH), Seizure disorder, severe low tone, G tube fed, CVI, my hero Please contact mito-owner with any problems or questions.

[Guest guest]

We changed mito doctors to one who had more of a basis in genetics.

With the first doctor we had a muscle biopsy which gave us back a dx

of complex IV disorder (with double the normal amount of mitochondria

present).

With the second doctor we had a blood/genetic check for a surf1

mutation based on 's symptoms. Execpt for the age, he was

already over 5 and most of the surf1 kids seem to pass early, he had

all the clinical symptoms. They found he did have surf1 mutation but

not one they had seen before. That difference may be why he is

having his 9th birthday this next week. As part of the follow up

they wanted to know if dad, mom and brother had the same mutation.

We all gave blood and found dad and I have it as a carrier and

brother does not have the bad genes from either of us. So basically

if either of us had gotten married to most anyone else our children

would not show this problem.

I have 2 brothers and 1 sister with only 1 neice.

My husband has 3 brothers and 1 sister with 2 nephews and 4 neices.

None of the other kids seem to have problems. None of them (or their

parents) want to hear that this could be passed on to their

kids/grandkids.

Aside from reassuring my older son that his problems are not going to

develop into the same problems as my younger son this knowledge has

done nothing for us. There are no genetic therapies working for this

and the current state of medicine is still back in the witch doctor

stage. We are trying to keep healthy enough to maybe see the

breaktrough day.

Twana

> Just wondered if anyone has any ideas or has been through testing

to search for gene mutation.