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Post by charlie on Jun 19, 2009 15:06:37 GMT -5
Hurray, got referral appointment today at last to see metabolic specialist in London. Lovely chap, very helpful team everyone piled into room that needed to. Megs was performing well in hyper mode probably triggered by sausages she had for breakfast but only thing I had to stock her up well incase appointment went on a long time.
They now are back on track that this is Fructose Malabsorbtion being controlled well by diet but something else to do with glucose going on affecting her brain function. School once again had done great letter and sample of the change in her work as well as her diary.
The plan now is that she is in the fits, faints and funny turns category so they will admit her when they can, do a glucose challenge to monitor blood sugar, an EEG with a sleep study and a lumbar puncture as they have found more and more cases where the glucose in the spinal fluid is not right and I think that then affects brain function, she would have to have an anasthetic for that.
At that point my brain froze and I forgot all the questions I wanted to ask so no clearer at the moment but it sounds like they will do it when whole team around it will take at least a day and a half so hopefully have longer then to ask for more advice.
Also met their dietitian who seemed very helpful.
Here's hoping it doesn't take too long as I'm not sure my nerve can hold out that long!! hey ho.
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Post by meaniejean on Jun 27, 2009 8:19:45 GMT -5
Charlie,
Sounds like you guys are well on your to getting things figured out. Hope Megan is feeling well and that the tests are informative!
-Sandra
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Post by charlie on Jul 3, 2009 14:27:22 GMT -5
Got our hospital date through really quickly, its on the 15th July. they are doing a sleep EEG, an ECG, various blood tests and the lumbar puncture is to see if she is suffering from GLUT-1 deficiency, a carrier is missing that transports glucose across the blood/brain barrier.
Trouble is not sure there is any treatment other than what we are doing. Several people and articles mention the ketotic diet for epilepsy and for this but having read it to be honest it sounds very much along the lines of her current diet which may be how symptoms aren't as severe as they could be. Well, we shall see.
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Post by meaniejean on Jul 17, 2009 11:23:07 GMT -5
Charlie, Charlie, Charlie!
How did it all go?
Hugs to you and Megan!
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Post by charlie on Jul 17, 2009 15:29:42 GMT -5
Hi Sandra.
Thanks, glad 2 be home as very stressful experience.
all very nice there, very good with Megs who was being extremely unco-operative. won't know the EEG results for a bit, she only had a short sleep, then wouldn't do anything else, I unfortunately woke her up by trying to move her onto couch, she had fallen asleep in a tight ball on my lap. they had given her some melatonin in the ward to make her sleep.
The lumbar puncture was alot more traumatic for me than I had realised it would be more her reaction after the anaesthetic, she was screaming down the hospital when she came round and I wasn't there then clung to me so tightly I couldn't breath. The Glut 1 was negative but they have sent the spinal fluid off for more tests as there are several other possibilities too. Oh the diet is ketogenic not ketotic.
The biggest stress was as usual the food and medicine. Why did I not listen to you guys more. I had rung to check they knew she was HFI, oh yes the dietitian will see you there. So, due to travelling up on the train on our own I only packed immediate essentials. The only thing she could have for lunch was dehydrated pasta which she didn't like. Tea had no proper options so she ended up with mashed potato only as I didn't want to risk the chicken nuggets. Trouble is the mash was probably ready made stuff and prob had something added to it. She lived on milk and ice cubes that day. don't worry they said, the dietitian will sort it out for tomorrow. Well, no sign nexxt day, but lunch was OK as they had jacket potato with cheese. but tea was the same as the day before. I hadn't overly worried about tea as we were due to go home but unfortunately she had a bad turn just as we were about to go and her blood pressure plummeted. So we had to stay in for a few more hours.
although I am exhausted mentally and physically she seems in quite good spirits today and has certainly forgotten about the anaesthetic traumas. Poos have started to be foul though already so we may have a rocky few weeks. We should hear results soon. all through her blood pressure was very low, averaged 85 over 45. Could explain some of her funny turns.
Will see how she is over the weekend as to whether she goes to school. I don't usually worry about these things but theirs is a small school and there is a case of swine flu apparently. If she is still low I don't know if I should send her in, there are only 3 more days till holidays start. Am I turning into a neurotic mother or should I err on side of caution at the moment??
Thanks for the hugs, I badly need them at the moment. This has shaken me up more than I care to admit.
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Post by charlie on Aug 7, 2009 16:29:46 GMT -5
Update on results. EEG was normal so rule out epilepsy, the Glut 1 deficiency was negative but still waiting to see if any other problems with the CSF. Otherwise back to the drawing board. We ended up in A & E on Monday as she was having a real hypoglycemic attack and the doctor was not happy so sent us in an ambulance. Her BM Glucose was 3.4mmol/L and went up to 5.6 after a small drink of milk. When we arrived she was very pale lethargic and unco-operative and I had to carry her. A few hours later after she had managed to eat a sandwich and drink more milk (the threat that she may have to stay in) she was skipping and talking clearly so the positive from it was that they saw how much she changed.
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Post by Guest on Aug 8, 2009 20:54:10 GMT -5
Hmmm.... could it be a glycogogen storage disease? They have fructose issues with hypoglycemia. Just a thought.
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mazian
Junior Member
Mum of HFI daughter
Posts: 69
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Post by mazian on Aug 9, 2009 8:19:46 GMT -5
My daughter has possible HFI, we are currently trying to find some IV fructose to do the loading test. She is on a strict fructose free diet, however, I have just read that eggs are not so good, which would explain some unusual symptoms we have been seeing. My daughter seems to have the same issues that your georgous Meg has. We have also had the EEG, lumber puncture, etc. We have seen a significant deteriation in her brain function without any evidence of damage in an MRI. We have also just put her on the fructose free diet in the last 6 months and we are finally seeing a huge change in her brain processing. I was wondering if this is the case for you? Sarisa also has problems with lactose. Is there anyone else who has this issue?
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Post by charlie on Aug 9, 2009 17:08:14 GMT -5
Sandra has suggested glycogen storage too, will suggest that as a possibility next visit. It is like someone switches her on and off with her energy levels sometimes. Its a lengthy process of documenting foods, amounts, sleep etc to see if there is any pattern and I still can't see one.
Hi Mazian, welcome to the board, I took megs off fructose originally as she had severe diarhea and incontinence of both bowel and bladder aged four, she also had alot of tummy aches and sickness. Although I saw a huge improvement in these very quickly her brain functioning problems didn't improve. The problem was they weren't really evident before as she hadn't started school, there were times when I would think she wasn't quite with it or she would go manic but I thought it was just her so its difficult to say. However I follow a very stict diet for her and hardly anything slips through and it hasn't helped her other problems which is why we are searching for new problems.
Megs doesn't seem to have a problem with lactose, she had the lactose breath test and that was fine, she went off the scale with the fructose one. They did the breath test using a fructose solution she had to drink. Megs wasn't unwell immediately after the test but it kicked in a day after and she was very poorly for weeks. Good luck with your daughter, if we can be of any help with advice then feel free to message us. Most of what you need to know will have been posted somewhere on this board.
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mazian
Junior Member
Mum of HFI daughter
Posts: 69
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Post by mazian on Aug 9, 2009 20:21:02 GMT -5
Hi everyone,
It is great to hear someone else's story. I think you will find that they tested for the glycogen disorders when they did the lumber puncture. This is the type of test for discovering that type of disorder, or that is what my doctors told me when we had the test done. We had an MRI which, in Sarisa, did not find anything, but they wanted to rule out lots of other metabolic issues which were easier to discover than HFI. One of the tests which we had done was a protein loading at hospital for a very rare condition. I will try and get the actual name of the type of protein, but I know that it is used in body building. Your metabolic specialist will be up with these types of issues though. We seem to be in a similar position. Have you had the dna testing? One of my research findings is that there are some people with the same ancestry, in small towns from Germany, France and Great Britain who have a form of HFI but not any of the forms which are discovered by DNA testing. Each town has a different DNA marker and similar symptoms showing. This is from a paper sent to me by a doctor in sweden. My family comes from Birmingham and I was wondering if you have ancestry from Birmingham? Both my husband and I have ancestors from Birmingham, but we are not related. I hope that this helps. Good Luck with your journey. I will keep posting. I am interested to see what your doctors come up with. We are all very unique.
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Post by guest on Aug 11, 2009 7:38:02 GMT -5
Glycogen storage diseases are diagnosed by liver biopsy, muscle biopsy or genetic test. The lumbar puncture can check that there is enough glucose reaching the brain.
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