RE: Mitochondrial disease

[Guest guest]

I'm just offering suggestions, I am so sorry, and I understand the desperation. It's just my opinion, but I would call them and beg them for something sooner, or if possible go there in person and ask. If they won't or can't, I would keep that appointment, and beg them to call you if there is a cancellation, or call them every morning to find out if there is one. Whatever it takes to get it sooner. I'll be praying for you. My dearest friends, I hope everyone is doing well. I'm desperately writing you in regards to our son . He's been suspected of having mitochondrial disorder , amount the problems he has that includes of course autism, asthma, pre-diabetes now, now recently I took him to the university of Miami seeking for answers the chief of division for pediatrics genetics was very happy to take over his care, he order a series of blood work, which showed a few amino acids deficiency , acid pyruvate in the urine alter among two more acids, but most worry he was about the lactic acid is in alert @ 39.6 ( normal range from 5 - 18) . He decided to repeated again and it was the same result. Now he would like to order a muscle biopsy so we could start treatment right away. He wants us to go to Miami children's hospital, and get it done. But in order to get it done I will have to see first a general surgeon , consult with him first and then schedule the procedure , the next appt mch has is not until 8/14. I'm so worried about my Bry and take into consideration that he's only four years old. In my opinion and think that's too long to wait for a consult. Any thoughts, recommendations or advise will be greatly appreciated. Sent from my iPhone

[Guest guest]

I am so sorry to hear what you are going through.

Talk to the first doctors office Monday morning. Explain the timing of the next

available consult and ask if it is okay to wait that long. If the first doctor

thinks it is too long, he will most likely call the surgeon and ask for an

earlier appointment. Often, when one doctor calls another, they will fit a

patient in quicker.

Keeping you in my prayers.

Jean Eccleston

Sent from my Samsung Captivate on AT&T

Judy Chin mrsjudychin@...> wrote:

>My dearest friends, I hope everyone is doing well. I'm desperately writing you

in regards to our son .

>

>He's been suspected of having mitochondrial disorder , amount the problems he

has that includes of course autism, asthma, pre-diabetes now, now recently I

took him to the university of Miami seeking for answers the chief of division

for pediatrics genetics was very happy to take over his care, he order a series

of blood work, which showed a few amino acids deficiency , acid pyruvate in the

urine alter among two more acids, but most worry he was about the lactic acid is

in alert @ 39.6 ( normal range from 5 - 18) . He decided to repeated again and

it was the same result. Now he would like to order a muscle biopsy so we could

start treatment right away. He wants us to go to Miami children's hospital, and

get it done. But in order to get it done I will have to see first a general

surgeon , consult with him first and then schedule the procedure , the next appt

mch has is not until 8/14. I'm so worried about my Bry and take into

consideration that he's only four years old. In my opinion and think that's too

long to wait for a consult.

>

> Any thoughts, recommendations or advise will be greatly appreciated.

>

>Sent from my iPhone

[Guest guest]

Hello, I'm sorry you are having to go through this. It's never something we as parents want to have to endure or see our children endure.My daughter was tested for Mitochondrial disorders at the age of 5. Thankfully it was negative.

I would just like to assure you that while it seems like forever now, in the grand scheme of things a little more than 2 weeks is really not that long of a wait. When we were first advised that a test for this was warranted for my daughter while in the hospital recovering from a 4 hour status seizure, we told her neurologist at our follow up what they said and he agreed it was warranted but also said there was no rush, because the test is really for diagnostic purposes only as there is no cure for Mitochondrial disorders. So our actual test was nearly 6 months after it was first suggested.

So while I TOTALLY understand the desperation and anxiety about the situation and wanting answers about your 'baby', like yesterday. An answer is still a few months out at best. Because even when you have the biopsy done it takes another 6-8 weeks to get the results back. And again, if the test comes out positive there won't be a rush to start treatments etc. since there is no cure at this time, they just treat any treatable symptoms caused, which can be done without a definitive diagnosis anyway.

The only thing I don't understand and you may want to inquire about, is why they want you to see a general surgeon first. When my daughter had her's done, they said it needed to be done by a Neurosurgeon. Which may actually push your waiting time out a bit more...  or not, depending upon the neurosurgeons down there. Due to my daughter's Arnold Chari diagnosis she was already a patient of a pediatric neurosurgeon, so an initial consultation to establish as a patient wasn't necessary, but again, it was still more than 6 months from the time it was suggested to the time it was actually done.

Many hugs to you, I hope the next few weeks fly by for you. (and yes, it's never a bad idea to let them know that you can be there within 'x' amount of notice if they have a cancellation, and you can always call each afternoon after they've done their confirmations for the next day and see if they've had a cancellation that you can take)

Theresa My dearest friends, I hope everyone is doing well. I'm desperately writing you in regards to our son .

He's been suspected of having mitochondrial disorder , amount the problems he has that includes of course autism, asthma, pre-diabetes now, now recently I took him to the university of Miami seeking for answers the chief of division for pediatrics genetics was very happy to take over his care, he order a series of blood work, which showed a few amino acids deficiency , acid pyruvate in the urine alter among two more

acids, but most worry he was about the lactic acid is in alert @ 39.6 (

normal range from 5 - 18) . He decided to repeated again and it was the

same result. Now he would like to order a muscle biopsy so we could start treatment right away. He wants us to go to Miami children's hospital, and get it done. But in order to get it done I will have to see first a general surgeon , consult with him first and then schedule the procedure , the next appt mch has is not until 8/14. I'm so worried about my Bry and take into consideration that he's only four years old. In my opinion and think that's too long to wait for a consult.

Any thoughts, recommendations or advise will be greatly appreciated.

[Guest guest]

Thank you, so much for the great advise. I'm so sorry that you had to go thru this too. I will definitely seek the opinion of a neurosurgeon, if you think it may help. My concern is that our bry is always so tired, and not hungry at all, and that he's lactic acid is so high and it has been high for a while now. Thanks for your help, hugs and kisses.Sent from my iPhone

Hello, I'm sorry you are having to go through this. It's never something we as parents want to have to endure or see our children endure.My daughter was tested for Mitochondrial disorders at the age of 5. Thankfully it was negative.

I would just like to assure you that while it seems like forever now, in the grand scheme of things a little more than 2 weeks is really not that long of a wait. When we were first advised that a test for this was warranted for my daughter while in the hospital recovering from a 4 hour status seizure, we told her neurologist at our follow up what they said and he agreed it was warranted but also said there was no rush, because the test is really for diagnostic purposes only as there is no cure for Mitochondrial disorders. So our actual test was nearly 6 months after it was first suggested.

So while I TOTALLY understand the desperation and anxiety about the situation and wanting answers about your 'baby', like yesterday. An answer is still a few months out at best. Because even when you have the biopsy done it takes another 6-8 weeks to get the results back. And again, if the test comes out positive there won't be a rush to start treatments etc. since there is no cure at this time, they just treat any treatable symptoms caused, which can be done without a definitive diagnosis anyway.

The only thing I don't understand and you may want to inquire about, is why they want you to see a general surgeon first. When my daughter had her's done, they said it needed to be done by a Neurosurgeon. Which may actually push your waiting time out a bit more... or not, depending upon the neurosurgeons down there. Due to my daughter's Arnold Chari diagnosis she was already a patient of a pediatric neurosurgeon, so an initial consultation to establish as a patient wasn't necessary, but again, it was still more than 6 months from the time it was suggested to the time it was actually done.

Many hugs to you, I hope the next few weeks fly by for you. (and yes, it's never a bad idea to let them know that you can be there within 'x' amount of notice if they have a cancellation, and you can always call each afternoon after they've done their confirmations for the next day and see if they've had a cancellation that you can take)

Theresa My dearest friends, I hope everyone is doing well. I'm desperately writing you in regards to our son .

He's been suspected of having mitochondrial disorder , amount the problems he has that includes of course autism, asthma, pre-diabetes now, now recently I took him to the university of Miami seeking for answers the chief of division for pediatrics genetics was very happy to take over his care, he order a series of blood work, which showed a few amino acids deficiency , acid pyruvate in the urine alter among two more

acids, but most worry he was about the lactic acid is in alert @ 39.6 (

normal range from 5 - 18) . He decided to repeated again and it was the

same result. Now he would like to order a muscle biopsy so we could start treatment right away. He wants us to go to Miami children's hospital, and get it done. But in order to get it done I will have to see first a general surgeon , consult with him first and then schedule the procedure , the next appt mch has is not until 8/14. I'm so worried about my Bry and take into consideration that he's only four years old. In my opinion and think that's too long to wait for a consult.

Any thoughts, recommendations or advise will be greatly appreciated.

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