Diagnosed with low MBL (mannose-binding lectin) deficiency

[johnston15]

My daughter was just diagnosed with a MBL (mannose-binding lectin) deficiency. She is 6 years old now and has been plagued by multiple pneumonias and sinus infections. What is the prognosis of this deficiency or what can we expect for her future. I am having trouble finding any down to earth explanation about this deficiency.

[GinnyGiraffe]

I just recently found out I have mannose-binding lectin deficiency. This explains a whole lot of illness I have had over the years. Most recently I had shingles and strep throat within a week of each other. Which is what prompted me to seek the help of an immunologist allergist. I was told by him it is a condition you are born with. Which explains why I had measles as an infant of one month old.  It comes from your ancestry of Eastern European descent. 5-10 % of the world have it. That's a lot of people. He also said up until 10 years ago there was no test for it. For  me it has been a comfort knowing I'm not a hypochondriac and I don't need antidepressants. Also when I miss work a lot it removes the guilt I have felt in the past. I know now at age 54 I don't feel right I go to the doctor and not put it off even if I just went the week before. It is an autoimmune deficiency that needs medical attention.

[Cindy5ey]

Hi,

I just received my blood test results back, which shows I have MBL deficiency.  

I am trying to find out as much as possible about this, but the info is scarce and my doctors don't know anything about it.

Thanks,

Cindy

[Cindy5ey]

Do you happen to have a copy of the article you talked about? I am interested in finding out what infections it lists that adults would likely get.

Thanks,

Cindy

[mummyp2015]

what a wonderful set of parents you all are.

just a quick one from me as I'm planning to come back and post a history and ask some questions soon.

MBL diagnosed within first year of life. I had to push for it though.
We also saw a lady at Great Ormond Street who said the same. I wonder who you saw. I didn't think she was well informed or had many patients with MBL over the years. She, in fact, didn't even answer my question on how many previous patients she had with it.
she even asked me if i was a doctor given the questions i was asking. didn't fill me with any confidence.

what i can tell you just of the top of my head is this:
in london, we had all our NHS vaccines done, plus meningitis b vaccine, booster preschool mmr (earlier than usual as some places in london are doing them closer together). so 2 mmr in total. meningitis ACWY lined up for after she's two years of age. Im debating the hepatitis one but have been told that we don't travel to such places so we don't need it. We also avoid plane travel due to the risk of infection.

we've also been tested for egg allergies amongst others - apparently you can get an egg free injection for children with allergies but it needs to be administered in hospital. more on this from me later.

She doesn't go to nursery. Does go to some toddler classes.

[Nanaherbs]

My  13 month old grandson has just been diagnosed with MBL, currently under GOSH. His first year was horrendous with so many infection. Sepsis etc. Had his tonsils and addennoids out at 10 months! Any info you could share would be most welcome  Finding any info on this is a nightmare Thankyou

[0790toni]

Hi, my son diagnosed with a low MBL a week ago he also has a low IGA and geographic tongue. He is under the Royal London Hospital all they have told me is not to worry (easier said then done) he was in and out of hospital as a baby. He had to have his adenoids removal, tonsillectomy. grommets.all this before the age of 6 years. Does anyone no anything i can give him to help his immune system? and for those of you that dont no what geographic tongue is it means he has around 10-15 ulcers in is mouth everyday for the last 2 years. All i get told is not a lot of research has gone into these conditions.
I no its a long shot but if anyone can help i would really appriciate it. i'm sorry i'm a bit all over the place this is the first time i have ever wrote on a page like this.

forever hopeful

Toni

[Chilv]

Hi
I'm a bit new to all of this. My daughter has just been diagnosed today at 9years old after two years of recurrent infections and various investigations. Relieved to have an answer to what has been going on but quite alarmed at some of the posts I have read. The Doctor at Great Ormond Street said that the although she will always have low MBL as she grows older the rest of her Immune System will be able to compensate and she should not have too much of a problem. Is this because her levels are not that low ( I don't know numbers)? It's just that we were given absolutely no more information about how to manage this other than starting her on antibiotics now and through the winter months.
slightly confused!
Fru

[TeeDee1966]

I'm 48 and I have MBL of zero.  I've had nasal/sinus infections all of my life.  I also have asthma and celiac disease. About every 4 years I get pneumonia regardless of having the pneumonia shot.  I also had flu shot every year, but guess what?  I got the flu this year and last year and the year before, and on, and on.  I'm just sick and tired of being sick and tired. I take vitamins such as C, D-2, D-3, garlic, and I frequently wash my hands, I stay away from sick people or people who cough, I even sometimes wear a N95 mask on public transportation, but I still get infections and I still get sick.  Recently, I had a positive ANA test but I was previously told that I don't have lupus or rheumatoid about 5 years ago, but I have to get tested for these again due to the positive ANA (which was pretty darn high).  I'm going to talk to my doctor about immunoglobulin replacement therapy.  Maybe it will help my immune system.

[mpk2337]

I would love to talk to you more. Im 41 y/o. Mbl of 0.5. I keep getting sick. I have been to many specialists. Nobody has been able to help me. Please contact me at ***@****. Thank you.

[emmonsd]

My 3 year old son was diagnosed with MDL yesterday.  I was about to start part time daycare but now I don't know.  What did you end up doing? How are things going?

[elbamom]

So sorry to hear about your baby. I know, we went through this too. My kiddo wasn't diagnosed until age 16. You might want to read my previous posts from 2012 and 2103 under elbamom.

Contact the IDF (immune deficiency foundation) by phone or at www.primaryimmune.org  They consider MBL deficiency as one of the 200 immune deficiencies they cover.  They offer free support, information, and even can connect you with a doc in your area who is knowledgeable about immune deficiencies.

There is no cure at this time. The treatment is a daily antibiotic. If an infection occurs the doc needs to quickly and aggressively treat it. This is not a wait and see what happens time. The doc stops the daily antibiotic and uses a stronger dose antibiotic for a short time until the infection clears then back to the daily. My kiddo uses a pro-biotic daily to help the gut bacteria stay healthy.

Be prepared to use a lot of hand sanitizer/hand washing and stay away from sick people. She needs all her vaccines as they can help prevent problems in the future. AVOID any "Live" vaccines as they will give your daughter the illness you are trying to prevent. For example, a flu shot is better than the flu nasal spray as the spray is live. Have all family members get their shots too.

If you have a doc who is knowable MBL deficiency can be managed. As school approaches you will need the school guide from the IDF and to know the legal rights your child is entitled to under the ADA.

I will say that since my kid was put on daily antibiotics she was able to graduate High School and go to a community college and even has a part time job. I spent many sleepless nights thinking this would never happen.

This forum is very supportive and helpful, but the IDF may have support groups in your area you could attend as a family.

Hang in there, this will work out and since you got her diagnosis early it will be very helpful in having her live a "normal" life.

Elbamom

[TheLightSeeker]

Hi Greka,

Sorry that your baby is going thu all this.

Mannose-binding lectin deficiency, would make sense, as it would be consistent with her recurring infections, however, please beware of the negative effects of antibiotics, so it is important that you consider a pediatric
probiotic for her, if you have not done so yet.

If it is indeed the above suspicion, genetic testing might be justified.

Usually  Mannose-binding lectin deficiency is associated with an MBL-2 gene mutation, but it is believed  other genetic and environmental factors, are involved in the development of this deficiency and increased susceptibility to infections.
Antibiotics would be considered a co-factor.
There are treatment options, but first, find out exactly what he meant.

Please let us know.

Hope this helps.

Best wishes to you and your baby.
Niko

[Greka]

I have an 8 months old baby girl and at 6 months of age she got her first cold..after this she has gotten 3 ear infections another cold and a sinus infection It seems she has been sick continously since she was 6 months old and now she is 8 months old.  She is on her 3rd round of antibiotics. She was prescribed 3 different ones...stronger ones every time so we decided to go for testing to see what was wrong.  Just got a call from her pediatrician and he said everything looks within normal range except the "Mannos" that appears mildly low.  I have an appointment to discuss this further but couldnt help to google it and I am terrified of my baby girl having something bad. Any of you have had an experience with babies and these types of results?

[jetsonj]

Can you tell me where to find the study that you mention about the thyroid therapy?  I have just been diagnosed with MBD, and I'm getting pneumonia every month, and am now allergic to many antibiotics, so I will be hospitalized if I get sick again. My immunologist has been searching for a reason, and my results just came back today. I was on synthroid when I was younger, for repeated infections, but I've tested ok for thyroid so I haven't taken it for years.  I'd like to pursue any possible method of treatment.

[mrsb80]

I have to say that after reading all of these posts I am so grateful that our infectious disease dr had the right blood work done the first time.  My son is 15 and his level is a 5.  We are still waiting to have more blood work done in six weeks as he is testing him for another deficiency that he may have as well.  The interesting thing, after reading all of these posts, is that I think I need to have my younger son tested as well.  
He is 12 now, but since birth he had so many ear infections that by 10  months he had tubes put in and has had five total.  He had gone almost three years without one until two months ago and his eardrum ruptured again.  He also has acid re flux that gets worse with his anxiety.  
My older son gets sick every 2 1/2-3 months with fevers of 105 and then is diagnosed with a sinus or ear infection (just about every time).  I am leery about putting him on antibiotics for so long, so we are going to try the vitamins first and see how that goes.
I am also going to check out the websites that you have mentioned as well.  Thanks so much for the info and good luck to everyone!

[elbamom]

Dear Stephanie:
I live in Denver and we are lucky to have an allergy,asthma,immunologist. He is very aware of immune deficiencies and the Immune Deficiency Foundation.  Between him and the IDF is where I got the info and help to get my daughter as healthy as possible.

She had over 30 ear infections between birth and age 3. Then it was chronic sinus infections. I didn't even count these as it was every virus that causes them. She wasn't diagnosed until 16, and was basically sick all the time.  She has allergies, asthma, and life-threatening allergies to nuts  as well as the MBL.

I would contact the IDF today! Their website has lots of info and they can connect you with an immunologist in your area who knows about immune deficiency, and how to treat it.  Their site is www.primaryimmune.org.

If you call and talk to the people there at the IDF, they have been super helpful for our family. They also have local meeting and yearly meeting that your family can attend. This was so helpful to us. MBL is a compliment deficiency and there isn't a "cure" but there are things to do that help. Your son can meet other kids who have the same thing and you can meet other families dealing with immune deficiency.

Our immunologist has my kiddo on Singular, Zyrtec, Flonase, and Flovent I think all these are generic too) daily! She also does a sinus rinse with a Neil Med bottle 2 times a day. These have helped prevent a lot of sinus infections, not all. She also does a small dose of Amoxicillian daily during the school year so from August to June. Then she takes a break off of that, restarting in the fall.  She also does allergy shots year round.

If she get a sinus infection while on the Amox, the doc switches her to something else until the sinus infection is over then back on the Amox. His reasoning was that it was better to be on a small daily dose then huge Mega-does for 6-8month every year, like she had been since birth. He also wants to see her asap when she gets sick. He doesn't want  watchful waiting since it just means she gets worse. After he see her, if it looks like her immune system is handling it, then she stays on the Amox.

BUT he insists on our calling if she takes a turn for the worse immediately! Even after hours! So we are so lucky to have him.  He also asks that we call the office after a visit to let him know how she is doing even if she is doing OK. If we didn't have this doc, our life would be hell. He also communicates with other docs about her and her medical problems, and has written letters to her school.

My kid also takes VSL#3 which is a super-probiotic every day. This helps replace the good bacteria in the gut that the antibiotic is killing. Intestinal  health is also necessary for over all health. VSL#3 is over the counter at Costco in the pharmacy since it needs to be kept cold. We also got the sinus rinse bottle there too. Other places carry these things, Costco is just cheap.

All of the above help her maintain her health and fight off as much as possible a virus and stop it from becoming a sinus infection. I would try the above before a sinus surgery which will not fix the MBL anyway.

The other thing we found out was that my kiddo was deficient in vitamin D3. The immunologist has her on 10,000 IU of D3 a day. He checks her twice a year to see if she is in the "optimal range" of between 50 and 70 ml. Originally she was at 10ml. She started at 6,000 IU and was still below the optimal level after 6 months. It takes time to build the D3 up in your body. D3 is also cheap and easy to find. Costco has this too as do walmart, walgreens ect. I just try to find things cheap as we use meds daily and the money builds up.  More info about D3 at www.vitamindcouncil.org

The medical problems of MBL are horrific and overwhelming. That was bad enough! We also had major issues with public school since she was out sick so much. We got help and info from the school expert at the IDF. This lady knows her stuff. The school must work with him/you as he has a disability under the ADA. When you call the IDF ask to contact her and get her help with school issues.

I hope you find out how to help your son. For me that meant the more info the better! We are going the the IDF convention this summer in  Baltimore and maybe we will meet you there. I hope you find out how to help your son. For me that meant the more info the better!  If you have more questions, I will try to help.

Good luck,
Elbamom

[stephanie9535]

Just received a letter in the mail from an immunologist we saw a few weeks back.  The letter stated that our son has MBL and there is no cure.  What a great way to hear news:(  Anyway, your posts have been very helpful since getting the letter last night.  Our son is 11 and has been sickly since birth with the heavy hitting infections, hospitalization, and chronic sinus infections.  We were told by one Immunologist 4 years ago that he had Common Variable Immune deficiency.  However, recently we went to another Immunologist and he said "no, our son did not have an immune issue"  he felt it was a sinus/anatomy issue.  However, apparently he did not have the MBL test results he sent us for.  So question... were does this leave us?  MBL appears to be an immune dysfunction.  Do I go back to the 1st or 2nd Immunologist?  Also, ENT is recommending sphenoid surgery for chronic sinus infections.  Is that necessary with this new information?  Would surgery help if it is his immune system that is the problem?  Would appreciate any insight as at times I feel like I am crazy.  I can't tell you how many people pre-judge like I am looking for illness or somehow causing him to get sick. Would love to hear where some of you live and what Dr.s you work with and your approach.Thanks,

[elbamom]

Ooslow:
I am glad you read all of the info that is here from the original postings. If your boy is 7 is he in the second grade? I really recommend the IDF at www.primary immune.org  Their school guide will help you with dealing with public school. Your son should have an IEP which is an individual education program. This means he has to qualify for special ed, which he does since he has an immune deficiency.

He meets the criteria for the ADA,  American with Disabilities Act. According to the ADA a disability is " a physical or mental impairment that substantially limits one or more major life activities of an individual"  Major life activity include the operation of a major bodily function, including but not limited to functions of the immune system,....." This is covered through the IDEA individual with disabilities education act. More info in the school guide at the IDF website.

If you call the IDF ask to talk to their school expert, or contact her through email.  In my case the school didn't know anything about immune deficiency, didn't want to learn and was upset that my daughter didn't fit into the system the way they wanted. They legally can't refuse to educate your son even though they may not want to. We had to get a lawyer at one point and you may have to also.

The IDF is also a large and caring community and has lots of help available for people to deal with all the mental, physical, educational, social, insurance, etc areas that we need help with. It is free. My daughter had never met another kid with immune deficiency until she was 16 and going to an IDF meeting was the best thing I have done for her, because we both found out we weren't alone in dealing with this.

I hope that you find some ideas that help your son both physically, and at school.
If you have more questions I will try to help just post them here. Other people have good ideas too!

Good luck,
elbamom

[ooslow]

My son has MBL and is 7now. Since birth he has been very sick and constant  infections. He misses so much school due to being so sick. I am so excited to find others and being able to read about what you all are going through and doing. I have had no luck with finding any information about MBL or others who are trying to deal with it.

[elbamom]

I am glad that my Aug 2012 post helped. Have you contacted the IDF?
I replied to Italy 10 today with some ideas about daily antibiotics, vitamin D3 and re vaccinating that have helped my kiddo. Since you are in the states, I would either call and ask the IDF to send you the publications about school, living with immune deficiency etc or read them on line then ask for the ones you want.   Their web site is www.primaryimmune.org

There is a big convention in Baltimore this summer and there are grants available too. The IDF can also tell you about immunologists in your area who are aware of the immune deficiency and how to treat it. But with MBL there really isn't much to do. It is a compliment deficiency.  There may be local meeting you could attend.  The IDF even offers professional courses and info about the 150 different kinds of immune deficiency.

For my child there hasn't been one answer, but many different pieces that have helped. Daily small doses of antibiotics helped a lot, D3 helped, we have taken that daily for the last 4 years and do a blood test 2 times yearly to adjust up or down. The doc wants her between 50 and 70 ml. For a 16 year old she takes 8,000 IU daily.

Go to www.vitamindcouncil.org it has lots of info on D3. I am not sure of the dose for a 3 year old but I know 1,000 IU is safe since they give that to babies in Germany. Check the site for a dosage. As long as she doesn't go over 100 ml in her blood work she should be fine.

Our doc. also did a vitamin panel and she was low in B12. Once he got that up he had her stop that vitamin. He also checks her vaccinations every so often and has re-vaccinated her twice in the last 6 years. She takes allergy shots and allergy medicine daily with a multi-vitamin and the D3.

Public school was a big problem. Again the IDF has info on school and immune disabilities too. Your granddaughter is covered under the ADA and with school under the IDEA(Individuals with disabilities education act) having an immune system that doesn't work means she is disabled and she has rights under the law and at school.

The school must meet her needs, the nurse and staff need to be aware of her medical condition. Since she is 3 you have a couple of years to get ready. She will need an IEP. (individual education plan) I would suggest talking to the IDF school specialist so you know your rights, then getting to know the disability service person in your local school district. Is she in daycare? If so, they need to know what to do to help her avoid getting sick.  They also have obligations they have to follow under the law.

I will watch the MBL section better and reply if you have more questions.
It was 16 years before my daughter was diagnosed so I know the sorrow and pain you are going through. Since you found out now, it will help her so much in the future. It will avoid even more medical problems.

I am hoping you contact the IDF soon and you find help there.
Blessing from Denver
elbamom

[elbamom]

Sorry I wasn't watching the comment section better. How have things been going since Nov? The IDF immune deficiency foundation is international. Their website is www.primaryimmune.org. This is where I found help for my daughter. In the U.S. immune deficiency is recognized under the Am,. with Disabilities Act. I don't know is there is something like that in the U.K.
The IDF can help you with that. They are free, and have all sorts of help available, medical. legal, educational and insurance wise.

I only know that my daughter is on a daily dose of amoxicillion  250mg for the school year. Then off during the summer. This has helped enormously.
There is no cure, for MBL and nothing to do but ha, ha not get sick and then take antibiotics when you do.

At least our immunologist thinks that a small dose of antibiotics 9 months a year is better than huge doses for months fighting various infection, after infection. There is a line between antibiotic resistance and doing nothing. How many infections does it take to cross the line? My kid had over 30 ear infections the first 3 years of life. Was losing some of her hearing, developing auditory processing disorder worth it. I say NO!  
We talked to someone else who suffered 150 UTI's before the docs finally decided that she had an immune deficiency!

Some other things the immunologist recommended that have helped are vitamin D3 in large does of 8,000 IU a day. For more info on D3 go to www.vitamindcouncil.org  The doc also checked her vaccinations and if they weren't holding he has vaccinated her twice in the last 6 years. All of these helped. We are big hand sanitizers and try to avoid sick people. Clorox wipes at school for her desk, and any other items she has to share has also been very helpful. She wipes down her computer keyboard and books too.

Contact the IDF and let them help you.  
Good luck,
elbamom

[KKsnana]

Thank you for the information.  My granddaughter is 3 and was diagnosed last month.  We are currently sitting in children's hospital in Birmingham getting treated for pneumonia and metapneumovirus.  This is 5th pneumonia since December.  We are also scared, frustrated, and looking for options.  I am a 20 year veteran ER nurse and my daughter a nursing student.  Having my hands tied is very frustrating.  Her pulmonologist suggest prophylactic antibiotics but her immunologist cautions about super infections and resistant bacteria with long term antibiotics.
Any vitamins, herbs or other natural products anyone has found to help?

[Precious1258]

Get a 2nd opinion. Some of these professionals are a bit too cocky for their own or our own good. This is a deficiency syndrome. There are blood products that will help her have a greater chance of fighting infections and long term antibiotics are NOT IT. I am in my 50s and have had pneumonia more than I can remember, when everyone else gets a cold, I get flu and if they get flu, I get pneumonia. I only found out how low my immune system was by looking at my bloods OVER the drs shoulder and pointing it out to him., he was mid way through telling me my bloods were normal - which they are largely except for my Immune response. Now I am finally getting treatment and I have another couple of months to go and hopefully, I can retire my ''season ticket'' to the drs for next winter and get healthy.

[italy10]

My daughter is 4years old and after 4years of pneumonia and non stop various infections, we were told she had MBL. Help! I am going round in circles wtih medical teams. Her care is shared by our local hospital that don't have a clue about what she has and keep sending us home saying "It's a virus" only for us to be back a few days later to have an x-ray  and end up on IV drugs fighting pneumonia and a Professor at St Georges.
The Proff at St Georges is very laid back about it all, and leads us to believe "she's not that bad" and "can lead a normal life" but the life she and we as a family are living is far from normal. I have had to leave work after taking so much time off to look after her, she can't seem to go more than 2-3 weeks before she is ill again, and she has hardly been at school even though she has just started. The school are now saying they want her statemented and then that's a whole other battle which I just don't have the energy to fight. My daughter currently takes 5mls of Cefelexin every day and she uses Co amoxiclav to fight an infection. Please tell me there is light at the end of the tunnel because right now I feel I am going mad. We can't go out, we can't have anyone over, I just feel we are trapped in the house.  I am battling to try and claim DLA for her but sadly they are not recognising her illness and I am having to take it to an appeal, I don’t hold out much hope especially as I have a Professor who thinks it’s no big deal.

[elbamom]

My daughter was also diagnosed with low MBL at age 16. By that time she had hearing loss and auditory processing disorder due to the low MBL causing continuous infections month after month year after year.  The doc who finally diagnosed her told us to check out the Immune Deficiency Foundation. Their web-site is primaryimmune.org This has been a fantastic resource! It is free to join as they consider MBL one of the 150 immune deficiencies they follow.

The IDF has free publications including a school guide that explains the legal rights of people with immune deficiency in public schools and college as well as the work place. Also helpful is the guide called "Our Immune System" It explains in easy language how the immune system works. MBL is part of the complement system in the immune system and it helped us understand where the problem occurs in the immune response.

The IDF has health insurance information, medical resources, and many, many other good resources as well as local conventions for people to meet other people who have immune deficiencies. It is worth checking them out for information you need. I have become a better advocate for her and she has learned how to advocate for herself with this disease.

Unfortunately there is no treatment for low MBL that I know of at this time, and very little research going on. My daughter currently does a daily antibiotic during the school year, she also has severe life-threatening allergies and asthma. Her treatment includes weekly allergy shots and daily allergy medicines. Her doc also has her on vitamin D3 at 8,000 a day. She takes pro-biotics daily, to protect against yeast infections. The immunologist checks the level of her vaccinations to make sure they are holding. If they aren't holding he has re-vaccinated her.

We now know that when she starts with a sinus, or ear infection to go to him and get antibiotics right away!  The regular PCP was useless as they would just say to wait and she would get better on her own. With a damaged immune system that didn't work. She would get worse and worse until she had to have massive doses of extremely strong antibiotics for months to recover. It is better to be on a small dose 9 months of the year and go to a different antibiotic when she gets sick. That way the episodes last a much shorter time.

I would suggest keeping detailed medical records of which doc you saw and when. What was done, how effective it was and anything else you can think of. Know your legal rights under the" Am. with Disabilities Act "(ADA) and in public school under the "Individuals with Disabilities Education Act" (IDEA) The more you know the better you or your child can get their needs met.

Blessing on us all,
elbamom

[lctmom]

I have a two year old with Downs syndrome who has had many many infections since birth.  She had Hirsphrungs, ASD , laryngomalasia, asthma,GERD, and multiple ear, sinus and lung infections. She had pneumonia twice and has neen hospitalized 12 times with 9 surgeries. She had 21 courses of antibiotics over a 12 month period.  I took her to a wonderful immunologist who worked her up for a variety of immune deficiencies.  Her MBL level is 4.  Immunoglobulins were normal. We have just started to rotate prophalytic antibiotics (amoxil and bactrim) when she is not on a stonger course of antibiotics for an active infection. It hasn't been long enough to see if low dose antibiotics between infections will help or not.  The literature can be confusing, but I am glad to have a label for her problem and will continue to research how best to help kids like ours.  I have found that a close relationship with an immunologist has been so helpful.  For those parents going through this know that you are your childs best advocate.