Glutaric acidemia type 1

[stellar]

My heart pains for this sad news, Gandalf. To me there is nothing worse than not being able to help our children/grandchildren in an illness situation.

I would hope that this situation will be considered to ask the C's for some advice assistance.

Truly hope for the best for your grandson and family.

 

[Guardian]

Hi all,

My spouse and I have known three weeks ago that our grandson had a very rare disease.

Oh Gandalf, I am so sorry!

If you or your family need help with any kind of research, medical, legal, support networks, backgrounds on doctors, treatments, etc., ANYTHING at all... please let me know.

 

[loreta]

My sister never hear about Glutaric acidemia type 1 but she will ask other nurses that work at the hospital to see if they know about it.

 

[Jacques]

From what I read it seems that a metabolic crisis, meaning, when the condition becomes manifested, can be triggered by a period of ilness, fever, or after being for a long time without eating. From: _https://www.counsyl.com/diseases/glutaric-acidemia-type-1/

Indeed, it just happenned after Liam had a fever. Up to that time, every thing was fine and he never had any kind of fever or disease before that.

The "going too long without eating" part caught my attention as it would possibly support what Ailén wrote above regarding ketosis having a negative effect on people with this condition. The reasoning being that not eating for a long period will more easily trigger ketosis, as many have experienced here.

He can not go without eating too long otherwise his parents must go to the hospital and he will receive some kind of solute.

When looking it up yesterday the consensus seemed to be that protein would have to be severely restricted for all individuals afflicted since they can't metabolize certain amino acids, so that would certainly compromise the possibility of going into a ketogenic diet.
Did the doctors say why he couldn't be given enzymes Gandalf?

Yes proteins have to be severely restricted. However since he has to eat up to a minimum of calories each day, he has to compensate protein by carbs.

According to what the doctors told to the parents, there are no such enzymes so far to replace the missing one. The research is not there for the moment.

 

[Jacques]

Like Gertrudes, I wonder about the cause of the genetic component as well. Mutations can happen due to diet via epigenetics. Obviously, a condition like this is not adaptive and should not be passed on under ordinary circumstances. Do they have other children? I would suggest that they not have any other children. Even if one of them misses getting both genes, they will probably get one copy and pass it on for a future tragedy. Perhaps the parents will want to do some genealogy and maybe other family members will contribute to a DNA study or something?

The father has a daughter which is in good health. As a couple, Liam was their first child and will be the only one too.

According to the genetic doctors, when both parents have the recessive gene, the probability to have a child with the disease is 50%, the probability to have a child without the disease but carrying the gene is 25% and the probability to have a child without the disease and the gene is 25%.

Both parents had their DNA taken and I don't know for the time being for the other members of the family and it is quite possible that the hospital will be interested in a kind of genealogy study.

There are only 5 children with that disease in all the Province (on a population over 7,5 millions) and three of them are from the same parents.

 

[Laura]

Both parents had their DNA taken and I don't know for the time being for the other members of the family and it is quite possible that the hospital will be interested in a kind of genealogy study.

There are only 5 children with that disease in all the Province (on a population over 7,5 millions) and three of them are from the same parents.

It's just a horrifying thing to have to face. And part of what terrifies me is all the people with serious conditions that have NO chance of surviving any serious breakdown of social order, economics, climate, etc. If you are dependent on a special formula or medicine to stay alive, what happens when you can no longer get it?

 

[Jacques]

First of all, thanks so much to all of you for your support. It is really appreciated.

Hi all,

My spouse and I have known three weeks ago that our grandson had a very rare disease.

Oh Gandalf, I am so sorry!

If you or your family need help with any kind of research, medical, legal, support networks, backgrounds on doctors, treatments, etc., ANYTHING at all... please let me know.

Thank you very much Guardian.

 

[Jacques]

Both parents had their DNA taken and I don't know for the time being for the other members of the family and it is quite possible that the hospital will be interested in a kind of genealogy study.

There are only 5 children with that disease in all the Province (on a population over 7,5 millions) and three of them are from the same parents.

It's just a horrifying thing to have to face. And part of what terrifies me is all the people with serious conditions that have NO chance of surviving any serious breakdown of social order, economics, climate, etc. If you are dependent on a special formula or medicine to stay alive, what happens when you can no longer get it?

It is not only horrifying but demoralizing, disheartening and depressing.

Although his mother was against vaccine, drug, bad nutrition, now she does not have the choice to accept that Liam takes some drugs every day, will receive vaccines as soon as it is possible, will heat a diet high in carbs...

It goes against all that she wanted to give and teach to her son and as far as I understand it, she does not have the choice than to accept that.

 

[Gaby]

It's just a horrifying thing to have to face. And part of what terrifies me is all the people with serious conditions that have NO chance of surviving any serious breakdown of social order, economics, climate, etc. If you are dependent on a special formula or medicine to stay alive, what happens when you can no longer get it?

It is not only horrifying but demoralizing, disheartening and depressing.

I often think about this and can relate to the same realizations and conclusions.

{{{Hugs}}}

 

[Laura]

It is not only horrifying but demoralizing, disheartening and depressing.

Although his mother was against vaccine, drug, bad nutrition, now she does not have the choice to accept that Liam takes some drugs every day, will receive vaccines as soon as it is possible, will heat a diet high in carbs...

It goes against all that she wanted to give and teach to her son and as far as I understand it, she does not have the choice than to accept that.

What's even scarier is: 'what if the vaccines make him sick...?' There are SO many reports of children getting seriously ill from vaccines.

 

[Adaryn]

It's just a horrifying thing to have to face. And part of what terrifies me is all the people with serious conditions that have NO chance of surviving any serious breakdown of social order, economics, climate, etc. If you are dependent on a special formula or medicine to stay alive, what happens when you can no longer get it?

It is not only horrifying but demoralizing, disheartening and depressing.

Indeed, it is. {Hugs}

 

[Adaryn]

It is not only horrifying but demoralizing, disheartening and depressing.

Although his mother was against vaccine, drug, bad nutrition, now she does not have the choice to accept that Liam takes some drugs every day, will receive vaccines as soon as it is possible, will heat a diet high in carbs...

It goes against all that she wanted to give and teach to her son and as far as I understand it, she does not have the choice than to accept that.

What's even scarier is: 'what if the vaccines make him sick...?' There are SO many reports of children getting seriously ill from vaccines.

What kind of vaccines is he going to receive? Are they supposed to prevent fever crises?

 

[Jacques]

It is not only horrifying but demoralizing, disheartening and depressing.

Although his mother was against vaccine, drug, bad nutrition, now she does not have the choice to accept that Liam takes some drugs every day, will receive vaccines as soon as it is possible, will heat a diet high in carbs...

It goes against all that she wanted to give and teach to her son and as far as I understand it, she does not have the choice than to accept that.

What's even scarier is: 'what if the vaccines make him sick...?' There are SO many reports of children getting seriously ill from vaccines.

The mother knows that since she had read many articles about that.

 

[Jacques]

It is not only horrifying but demoralizing, disheartening and depressing.

Although his mother was against vaccine, drug, bad nutrition, now she does not have the choice to accept that Liam takes some drugs every day, will receive vaccines as soon as it is possible, will heat a diet high in carbs...

It goes against all that she wanted to give and teach to her son and as far as I understand it, she does not have the choice than to accept that.

What's even scarier is: 'what if the vaccines make him sick...?' There are SO many reports of children getting seriously ill from vaccines.

What kind of vaccines is he going to receive? Are they supposed to prevent fever crises?

I don't know exactly the names but those are the standard vaccines that all children receive in our country.

 

[LQB]

It is not only horrifying but demoralizing, disheartening and depressing.

Although his mother was against vaccine, drug, bad nutrition, now she does not have the choice to accept that Liam takes some drugs every day, will receive vaccines as soon as it is possible, will heat a diet high in carbs...

It goes against all that she wanted to give and teach to her son and as far as I understand it, she does not have the choice than to accept that.

What's even scarier is: 'what if the vaccines make him sick...?' There are SO many reports of children getting seriously ill from vaccines.

What kind of vaccines is he going to receive? Are they supposed to prevent fever crises?

I don't know exactly the names but those are the standard vaccines that all children receive in our country.

It sure seems to me that with Liam's condition, a case could be made AGAINST vaccines of any kind.