My name is Sarah and I have joined this group to help my 17 month old daughter.
Her B12 is 303pmol\L and her most recent active B12 is 53pmol\L both are within the ‘normal’ lab range. Her Active B12 has been tested 3 times, the other two times is was below lab range of normal at 43pmol\L and 35pmol/L. She has neurological symptoms including hypotonia muscle weakness and developmental delay with her gross motor skills.
We are from Australia and wondering if there are recommend paediatricians to treat my daughter? Our current paediatrician won’t treat her as she is within the normal lad results.
Can someone help me please?
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sarahpurcy
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I live in Sydney, am B12 deficient and am on regular B12 injections. I have not yet found a doctor who knows much about B12 deficiency. I am not a medical doctor.
Neither the total serum B12 nor the active B12 tests are reliable for detecting B12 deficiency.
It sounds like your daughter should be tested for methylmalonic acid (MMA) and homocysteine (HCY). These are toxic metabolites produced in excess when there is inadequate B12 and/or folate available.
HCY tests are funded by medicare but MMA is not. The last time I had an MMA test the analysis was done by the lab at Westmead Children's hospital in Sydney
There are a few genetic defects that can cause MMA to increase a lot. I think Westmead Children's hospital does the MMA test because they often see children with B12 issues that cause raised MMA.
Your daughter's symptoms sound very serious to me . I suggest you should take her to the emergency Dept at Westmead Children's Hospital ASAP. Take all her previous blood tests and other test reports with you. That should give you the best chance of correct diagnosis and treatment. If they do an MMA test it should be free for you.
I wish you all the best. I hope your daughter recovers soon. Please let us know how you get on.
I’m also very concerned for my daughter and I am trying so hard to find someone who has the knowledge or even willing to treat her given she still has no diagnoses, but I am having no luck. She has an MRI booked for 12th September and we are seeing a neurologist shortly after.
She has had genetic testing which came back normal.
Her homocysteine is 4.8 umol\L which isn’t high, it’s on the lower end.
MMA was requested but the lab no longer does this test.
I feel like the hospital would turn me away, as it’s not an emergency. Even though to me it is... you are the second person who has said this to me
I don't think any private labs do MMA tests. The blood for my MMA test was drawn by a private lab then sent to Westmead.
The Homocysteine test is not specific for B12 deficiency. HCY can be kept low by folate. MMA is specific for B12 deficiency unless your daughter has kidney disease.
Do you know what genetic testing was done?
If your daughter is deficient in B12 for too long she could be permanently affected.
If your daughter has had 2 active B12 tests below the normal range I don't understand she hasn't already had a trial of B12 injections. The emergency Dept at Westmead children's won't turn you away. In my opinion you should take her there without delay.
There is quite a good playground in the hospital grounds, so if your other child is older than your daughter and someone can go with you they will be able to look after your other child without too many problems.
Your daughter's condition is not immediately life threatening, so be prepared to wait an hour or two for her to be seen, depending on how busy the ED is.
Great thank you Martin. I have escalated her case at the John Hunter hospital, they said they will review and call me tomorrow. But if nothing comes through I will be going to Westmead. Thanks for you time
It is important that your daughter has blood taken for an MMA test before she has any B12 injections. The MMA result will help to confirm that a B12 deficiency is the cause of her symptoms and may help to identify the cause of the deficiency. It is not necessary to have the MMA result. Just that the blood for the test be drawn before the first injection and sent to Westmead hospital lab. I don't know of any other lab in NSW that does MMA tests.
I think there are several genetic defects that can cause symptoms of B12 deficiency in young children. Don't know whether they can all be detected by genetic tests.
I asked my GP to request the test. Blood was drawn by Douglas Hanly Moir. Received the result a few weeks later. I think the Westmead Children's Hospital lab accumulates bloods then run the tests in a batch, so there might be a delay. It may help to write very clearly on the form "Patient will pay for tests not covered by Medicare"
If you have no symptoms and your serum and active B12 are in the respective normal ranges your GP might be reluctant to request an MMA test. I presume you are not vegetarian? Should have asked you this before.
This link on B12 in children is from the pinned posts to the right of the page near the top (on a desktop screen).
Both my serum and active were in the normal range. My active was 66pmol\L
I will request the test with the doctor, I will say it needs to be investigated because of my daughter. If I’m willing to pay for it hopefully it will be requested. But I have no symptoms.. apart from brain fog and mouth ulcers and I am not a vegetarian/vegan.
I had mouth ulcers every since I can remember. They disappeared the day I started taking high dose oral B12 in 2006. I suspect my B12 was marginal all my life.
No luck with escalating my daughters case with our hospital. So going to Westmead tomorrow.. I don’t really know what to say, I’m not sure they will help me. But worth a shot
Tell them in detail about her neurological symptoms including hypotonia, muscle weakness and developmental delay with her gross motor skills, and she has had two active B12 tests that were below the normal range . Be sure to take the blood test results and any other medical documents with you. Also take your daughter's vaccination record. That should have a record of her developmental delay.
Tell them you are very concerned that she has an inborn or other error of vitamin B12 metabolism and may be suffering cumulative, permanent injury, and you would like this possibility investigated.
There should be doctors at Westmead Childrens who know about inborn errors of vitamin B12 metabolism in young children. Many of these errors cause increased MMA. That is why they do the MMA test there. You need to make enough of a case and enough fuss that your daughter gets to see one of these experts if not tomorrow then very soon. It is possible that they won't be there on a Saturday.
Your daughter may be seen by an emergency dept doctor who knows very little about B12. If you can print out this page
take it with you. If you think think the doctor you see may be receptive to you providing her/him with information show it to her/him. Point out the references at the bottom. They are very informative.
I wish you all the best. I hope you get the help you need.
Very frustrating. They didn’t see any issues with her B12 but said my paed could retest, and that there was Jk point them doing the testing as it would take a few days. So referred me back to paed
Hi Sarah. Very sorry to have caused you to drive all that way for no benefit. I was sure they wouldn't turn away a young child with serious neurological symptoms. Did you get a written referral to your paediatrician? If so that may get some action.
It really wasn’t a big drive. We only wait 1.5 hours.
The letter is useless.. says mother is concerned about B12 and suggests seeing a musculoskeletal specialist. They weren’t concerned about immediate neurological symptoms, or B12, but said paed needs to do further testing - which is happening just have to wait for it.
Maybe the neurologist would be more help with B12.. we have a referral which has been sent we are just waiting on it to be triaged to get a date. But they said most likely October.
Hi Sarah - have you tried an integrated doctor? Google 'integrated doctors Newcastle' and you'll find one straight away. Best wishes to you and your daughter x
I am a bit wary of integrated doctors, specially those who seem to be quite happy to work with homeopaths, acupuncturists and naturopaths. I would look for one who will test your daughter more thoroughly (including repeat serum B12, active B12, folate, homocysteine and MMA). You have nothing to lose but a few $$, but be careful of any treatment that is proposed before you have a clear diagnosis from someone you trust. Although B12 deficiency is a very likely cause of your daughter's symptoms, the true cause may be something else. I think that is why you have been referred back to a paediatrician who should be able to consider all possibilities.
The references below indicate that inborn errors of B12 metabolism can be complicated. It seems that in many cases the only treatment is hydroxocobalamin injections, but ideally the dose and frequency should be determined by a doctor who understands the disease and how to treat young children.
I think if it was my child and her MMA was well above the normal range I would push for a trial of B12 injections, mainly because I would be concerned about injury that may be caused by ongoing deficiency.
Thank you for the information. Yes your right, it could well be something else also.
I will speak to paed this week more about it. She had a metabolic screening test done which was all normal, but I’m not sure if that tested MMA because after she requested MMA through blood request and that’s when it was denied.
We luckily hot into neurologist, our appointment is on Tuesday in Sydney at the Children’s hospital Randwick.
We also managed to get into a paediatrician in Sydney, he is private and expensive but apparently knowledgeable in B12. I have everything printed out and all of her results so fingers crossed!!
I just picked her results up from my paed and her MMA was tested through her urine, I’m trying to find the range but it says not increased.. so both her MMA and homocysteine is normal
Sarah, do you have printouts of the blood tests showing below normal active B12? If you do you should take them with you to both the neurologist and paediatrician. Ask them if they know of a reason why she had two abnormal levels, and why her most recent level is close to the bottom of the normal range.
I also suggest you point out to them that although a total serum B12 of 303pmol/L is in the normal range for adults, it is well below the 25th percentile (456 pmol/L) for healthy children 1 - 10 years old reported by Bjork Monsen in this publication:
Yes I have all of her blood results printed. I didn’t have much luck today. The neuro said that there was nothing to suggest b12 deficient needing injections - ie intrinsic factor, mma and homocysteine. He said she needed oral supplements only. But he admitted he didn’t have the knowledge of B12 and said I should speak with haematologists.
The paed also doesn’t think her symptoms are related but wants to give 2 injections as her results aren’t optimal. He sent to the pharmacist who I have to call tomorrow to get them mail to me and give them to her myself.
I showed them all the print outs. Both think her symptoms are not related.
I don’t know what else to do.. I showed them all the right information but they both were firm on what they were saying... I will note the improvements and it I see a big one I will be begging him for more
Are you to give your daughter hydroxocobalamin (B12) injections? Hydroxocobalamin causes no side effects so you have very little to lose.
Have you been shown how to give an injection to a toddler, what length needle to use etc? If you have a letter from the paed you should be able to ask any GP (or the practice nurse) to give the shot.
You can get hydroxocobalamin from any chemist without a prescription. If possible avoid the brand Hydroxo-B12 made by Aspen. I suspect it does not have the shelf life claimed by the manufacturer and may be degraded more quickly by light. My symptoms started recurring after I had used that brand for a few months. Others on the forum have had similar experiences. The brand I prefer is Cobal-B12 made by Juno. According to a journal article I have it should be more stable than Hydroxo-B12 because it contains a better buffer.
Hydroxocobalamin comes in boxes of 3 ampoules. Store unused ampoules in the box in a dark cupboard. In summer they need to be in a fridge to stay below 25 deg C.
Even if B12 is the problem, you may not notice any improvement after only 2 injections. Nerve damage can take a long time to heal. You may need to be patient, and it may take more than 2 injections.
Yes I am to give her the injection. He has shown me how to do it, my sister is a nurse and is going to do the first one and show me. As there is not script needed I guess I can just continue to give it to her myself until improvements is seen?
I didn’t see the script but saw on a document from the paediatrician that it’s a Methyl B12 1mg injection - is that wrong?
Thank you so much for the information and continuing to help me, I appreciate it so much.
Tracey Whitty has a contact in Newcastle so is trying to find a doctor / paed who is knowledgeable.. just waiting to hear back
Methyl B12 is not wrong. It is a different form of B12. There are 4 forms of B12 (methylcobalamin hydroxocobalamin, adenosylcobalamin and cyanocobalamin. Methylcobalamin and adenosylcobalamin are the forms used in the body. Healthy people can convert any of the 4 forms to the forms used in the cells. Hydrocobalamin is most commonly used to treat B12 deficiency by injection in Australia. It is usually preferred because it is the most stable form and less sensitive to degradation by light. A very few people find that methyl B12 works better for them. Your paed may think methyl B12 might be better for your daughter because of the particular error(s) in B12 metabolism he suspects. You should ask him/her if you can.
The dosing advice on the B12 package inserts I have is (for adults and children) 1 mg on alternate days for up to 2 weeks then one mg per month. UK guidelines for treating B12 deficiency that causes neurological symptoms in adults is 1 mg on alternate days until symptoms stop improving, then 1 mg per month. I have seen one journal article on a specific inborn B12 error in which the dose was 1 mg every 6 months. I think you should discuss with the paed before you give your daughter very many injections beyond the first two he prescribed.
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