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Post by Aksel's Dad on Apr 3, 2021 16:24:07 GMT -5
Hi there,
I am writing to you from Istanbul, Turkey. I am glad that I have found this forum.
Our son is 5.5 years old. His growth is stunted (he is 18 kg and 107 cm now). After numerous blood tests, three gastroscopies/colonoscopies, tens of visits to "well-known" pediatric gastroenterologists, and a number of cruel trial-and-error diets one of which was solely based on a high fructose medical formula, he was finally diagnosed with HFI two weeks ago thanks to a genetic test. In this process, we encountered in him three unusual symptoms that, I reckon, may be related to HFI. I wonder whether your child has exhibited any of them:
1) At around two years of age he developed a hydrocephalic look. The diagnosis was "subdural effusion" which was a benign situation in our case. The excess cerebrospinal fluid was drained away into the circulatory system naturally in time. He is fine mentally and emotionally now.
2) He seems to have an overactive immune system. He never catches flu, and his nose never runs (he had adenoidotectomy and partial tonsillotectomy).
3) As the most puzzling among the three symptoms, he has a few permanent blisters on his skin. One is on his lower lip. This one has a varicose look and smaller than a quarter of a milimeter. It does not itch. The second one is on his ankle, much bigger and lumpy. It itches aggressively from time to time. Recently, a third one, very similar to the second, appeared on one of his wrists. This one also itches.
With my thanks in advance for the replies...
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Post by Stefanie (Ziba) on Apr 5, 2021 9:46:53 GMT -5
Aksel,
We are glad you found us.
My son was also growth restricted until we figured out he has HFI. If your son's diet is now HFI compliant, I am sure he will begin to grow at a a healthier rate.
Regarding the three unusual symptoms:
My son looked "alien-like" pre-diagnosis with a large head and tiny body. This was due to malnutrition resulting from undiagnosed HFI. But, since your son also has subdural effusion and skin lesions, my question is whether genetic testing was only for HFI or was it more broad (e.g. SNP microarray or Whole Exome Sequencing)? I am wondering if there is a second condition that could explain his other symptoms such as Alagille Syndrome, a condition that one physician speculated my son had based on his large head and protruding forehead. There is a skin disorder common in Alagille Syndrome. Google "Xanthoma" and see if these images match what is appearing on your son.
Is his CBC normal (complete blood count) and his thyroid panel? If there were an immune system issue (under or over active), these numbers may be off.
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Post by ukbill on Apr 5, 2021 12:18:24 GMT -5
Aksel, We are glad you found us. My son was also growth restricted until we figured out he has HFI. If your son's diet is now HFI compliant, I am sure he will begin to grow at a a healthier rate. Regarding the three unusual symptoms: My son looked "alien-like" pre-diagnosis with a large head and tiny body. This was due to malnutrition resulting from undiagnosed HFI. But, since your son also has subdural effusion and skin lesions, my question is whether genetic testing was only for HFI or was it more broad (e.g. SNP microarray or Whole Exome Sequencing)? I am wondering if there is a second condition that could explain his other symptoms such as Alagille Syndrome, a condition that one physician speculated my son had based on his large head and protruding forehead. There is a skin disorder common in Alagille Syndrome. Google "Xanthoma" and see if these images match what is appearing on your son. Is his CBC normal (complete blood count) and his thyroid panel? If there were an immune system issue (under or over active), these numbers may be off. Wow! Wonderful research and information! I would look closely at that posibility. However the key to a healthy long life for any HFI person is as close to zero Fructose in the diet (also sucrose and other plant based sugars that may well be contaminated with Fructose) Many of us are in our 60's and 70's even 80's! so HFI is not in any way life limiting even if it is diet limiting. Luckily much of the Turkish food I have tried (in the UK) is quite good for HFI people! Have you found the safe foods list? The key to a happy healthy HFI child is to ignore every thing you have ever been told about a "healthy Diet" none of it relates to us.. yet we suffer from none of the side effects that a high meat, high animal fat, low to very low plant based diet. He will need a source of Vitamin C however this can be obtained from most pharmacist shops. You will need a lot of advice and help in the early stages (it is a steep learning curve) however in a short time you will get the idea and be up to speed so to speak. Please ask away, no question is off the table no question is too silly to ask. We will only get upset if your child is ill because you did not want to ask a question.  Keep smiling your lad will be fine! Kind regards Bill A. |
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Post by Aksel's Dad on Apr 7, 2021 3:45:24 GMT -5
Aksel, We are glad you found us. My son was also growth restricted until we figured out he has HFI. If your son's diet is now HFI compliant, I am sure he will begin to grow at a a healthier rate. Regarding the three unusual symptoms: My son looked "alien-like" pre-diagnosis with a large head and tiny body. This was due to malnutrition resulting from undiagnosed HFI. But, since your son also has subdural effusion and skin lesions, my question is whether genetic testing was only for HFI or was it more broad (e.g. SNP microarray or Whole Exome Sequencing)? I am wondering if there is a second condition that could explain his other symptoms such as Alagille Syndrome, a condition that one physician speculated my son had based on his large head and protruding forehead. There is a skin disorder common in Alagille Syndrome. Google "Xanthoma" and see if these images match what is appearing on your son. Is his CBC normal (complete blood count) and his thyroid panel? If there were an immune system issue (under or over active), these numbers may be off. Dear Ziba,
Many thanks for your welcoming, informative and encouraging message. Your evaluation of Aksel's situation and your recommendations are very detailed and convincing; much better than that of some physicians we met on our journey. I very much appreciate the time you spend in writing this post. I am going to bring your post to attention of the physician who performed the genetic testing and of our endocrinologist, and if we get any meaninful results from them I will post them here.
I wish all the HFI sufferers -including your son- a happy and healthy life.
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Post by Aksel's Dad on Apr 7, 2021 4:45:15 GMT -5
Aksel, We are glad you found us. My son was also growth restricted until we figured out he has HFI. If your son's diet is now HFI compliant, I am sure he will begin to grow at a a healthier rate. Regarding the three unusual symptoms: My son looked "alien-like" pre-diagnosis with a large head and tiny body. This was due to malnutrition resulting from undiagnosed HFI. But, since your son also has subdural effusion and skin lesions, my question is whether genetic testing was only for HFI or was it more broad (e.g. SNP microarray or Whole Exome Sequencing)? I am wondering if there is a second condition that could explain his other symptoms such as Alagille Syndrome, a condition that one physician speculated my son had based on his large head and protruding forehead. There is a skin disorder common in Alagille Syndrome. Google "Xanthoma" and see if these images match what is appearing on your son. Is his CBC normal (complete blood count) and his thyroid panel? If there were an immune system issue (under or over active), these numbers may be off. Wow! Wonderful research and information! I would look closely at that posibility. However the key to a healthy long life for any HFI person is as close to zero Fructose in the diet (also sucrose and other plant based sugars that may well be contaminated with Fructose) Many of us are in our 60's and 70's even 80's! so HFI is not in any way life limiting even if it is diet limiting. Luckily much of the Turkish food I have tried (in the UK) is quite good for HFI people! Have you found the safe foods list? The key to a happy healthy HFI child is to ignore every thing you have ever been told about a "healthy Diet" none of it relates to us.. yet we suffer from none of the side effects that a high meat, high animal fat, low to very low plant based diet. He will need a source of Vitamin C however this can be obtained from most pharmacist shops. You will need a lot of advice and help in the early stages (it is a steep learning curve) however in a short time you will get the idea and be up to speed so to speak. Please ask away, no question is off the table no question is too silly to ask. We will only get upset if your child is ill because you did not want to ask a question. Keep smiling your lad will be fine! Kind regards Bill A. Dear Bill,
I do not know how to thank you for your heartwarming reply; it is much more encouraging and empathetic than the words of some of our relatives. Especially your words "we will only get upset if your child is ill because you did not want to ask a question" touched us deeply. We had been devastated upon reading such phrases like "potentially fatal" in some HFI info pages, but tesimonies of the HFI suferrers -such as you- and opinions of the experts made us feel so much better; thank you indeed. Currently, I am perusing the relevant entries on the forum.
That people who have HFI "suffer from none of the side effects that a high meat, high animal fat, low to very low plant based diet" is also a good news. Because we very concerned that the liver, kidneys and intestines of our son would be harmed.
Once again, many thanks for your warm embrace...
Armagan
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Post by Stefanie (Ziba) on Apr 7, 2021 13:15:09 GMT -5
Armagan,
You are not alone. You have support now, and your son will thrive on the HFI diet. My son was one of those "near fatal" cases and now he is a healthy, bright, & happy 6 year old. Aksel will be OK. Keep us posted :-)
Ziba (Stefanie)
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Post by ukbill on Apr 7, 2021 18:10:50 GMT -5
" Because we very concerned that the liver, kidneys and intestines of our son would be harmed."
They will only be harmed if he eats high digestible fibre, vegetables and fructose.
I will explain.
Few specialists know that not only are the liver and kidneys effected (and is some sad cases where far too much sugar has been fed for too long brain also) However I can tell you absolutely that the intestines are also effected.
The reason I say this is from a conversation with Professor Tim Cox.
He was at a meal in Germany with a German HFI support group. one HFI lady went into hospital for a normal medical procedure under local anaesthetic.
She came out of hospital 6 months later with a transplanted liver.
In Germany they use a lot of Sorbitol in the IV fluids. the Sorbitol destroyed her liver and she had to have a transplant.
Professor Cox asked her if the new Liver meant she could now eat fruit and sweet foods.
She replied that unfortunately her intestines were still HFI and she could not go near sweet foods fruit or vegetables even after the transplant.
High fibre has to be avoided because a % of the fibre is digestible in the small intestine.
When it is digested it is converted into sucrose which then is transported through the intestinal wall into the blood stream.
By some process I do not understand our intestines seem to try to stop this so the sugars then are eaten by the natural biome (bugs) which then produce a lot of gas as a by product and inflammation of the gut wall. Hence we get IBS type symptoms.
This causes cramps bad gas and a mixture of very loose stools and constipation.
The cure and it is a real cure, is a form of none digestible fibre called Psyllium husks.
These have to be hydrated before consuming in water or milk or used to thicken the meat juices to make a gravy.
It will not take much because they expand massively. 2 teaspoons full a day are enough for an adult!
Humm more than enough information for one day, your mind will be melting by now sorry.
There is a lot to learn at the start but it soon becomes 2nd nature.
Keep smiling keep safe
Bill A.
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Post by ukbill on Apr 7, 2021 18:12:51 GMT -5
PS Yes when having any medical procedure a check has to be made to make sure no sucrose or sorbitol is being used even in IV fluids and injections!
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Post by Aksel's Dad on Apr 8, 2021 9:25:03 GMT -5
Armagan, You are not alone. You have support now, and your son will thrive on the HFI diet. My son was one of those "near fatal" cases and now he is a healthy, bright, & happy 6 year old. Aksel will be OK. Keep us posted :-) Ziba (Stefanie) Your posts are very reassuring, Stefanie... Thanks so much on behalf of all our family... Best wishes to you, your son and and all your family. |
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Post by Aksel's Dad on Apr 8, 2021 9:37:50 GMT -5
PS Yes when having any medical procedure a check has to be made to make sure no sucrose or sorbitol is being used even in IV fluids and injections! Many many thanks, Bill... As usual, your post is full of valuable information that is not available elsewhere. Your warnings against soluble fibre and the sucrose and sorbitol in IV fluids have been duely noted. I was shocked to read the gastroenterology professor's response to the lady who had had liver transplantation. As you recommended, we have to teach our son to be vigilant and watchful, and in certain cases not to trust even 'experts'.
Best wishes from Istanbul
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Post by marilia on Apr 16, 2021 22:44:22 GMT -5
Aksel, We are glad you found us. My son was also growth restricted until we figured out he has HFI. If your son's diet is now HFI compliant, I am sure he will begin to grow at a a healthier rate. Regarding the three unusual symptoms: My son looked "alien-like" pre-diagnosis with a large head and tiny body. This was due to malnutrition resulting from undiagnosed HFI. But, since your son also has subdural effusion and skin lesions, my question is whether genetic testing was only for HFI or was it more broad (e.g. SNP microarray or Whole Exome Sequencing)? I am wondering if there is a second condition that could explain his other symptoms such as Alagille Syndrome, a condition that one physician speculated my son had based on his large head and protruding forehead. There is a skin disorder common in Alagille Syndrome. Google "Xanthoma" and see if these images match what is appearing on your son. Is his CBC normal (complete blood count) and his thyroid panel? If there were an immune system issue (under or over active), these numbers may be off. Wow! Wonderful research and information! I would look closely at that posibility. However the key to a healthy long life for any HFI person is as close to zero Fructose in the diet (also sucrose and other plant based sugars that may well be contaminated with Fructose) Many of us are in our 60's and 70's even 80's! so HFI is not in any way life limiting even if it is diet limiting. Luckily much of the Turkish food I have tried (in the UK) is quite good for HFI people! Have you found the safe foods list? The key to a happy healthy HFI child is to ignore every thing you have ever been told about a "healthy Diet" none of it relates to us.. yet we suffer from none of the side effects that a high meat, high animal fat, low to very low plant based diet. He will need a source of Vitamin C however this can be obtained from most pharmacist shops. You will need a lot of advice and help in the early stages (it is a steep learning curve) however in a short time you will get the idea and be up to speed so to speak. Please ask away, no question is off the table no question is too silly to ask. We will only get upset if your child is ill because you did not want to ask a question. Keep smiling your lad will be fine! Kind regards Bill A. |
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