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.

[lulu65]

I have two daughters with MBL deficiency.  It is a part of the complement system, so they have trouble fighting off infections, therefore getting them much more frequently than others.  I also think they have had more problems with general body pain... due to all of the infections.  My girls are now 9 and 10 and after years of chasing this down both are doing much better.  I am more aware, as well as doctors, so antibiotics are immediate, no waiting until they are really sick.  The 10 yr old is on long term low dose antibiotics which have helped, only 3 infections this year!  The 9 year old has only had a few as well!  I have worked hard on a very nutritious diet doing lots of organics and lots of fruits and veggies with a little supplementation.  I think it has helped.  My best wishes to you, it will get better!  Just trust your mom instincts.

[SCDmom]

We asked to have our son checked for this but were told it's not a test that is available)  I have done lots of research and made great progress with our son's health and autism (which is almost gone). Since MBL defficiency puts them more prone to allergies, have you had an ELISA IgG food panel blood test done on them? It's just a single vial of blood and it will list any sensitivities to about 90 -100 foods. I have also found the books "Breaking the Vicious Cycle" by Elaine Gottschall and "Nutrition and Physical Degeneration" by Weston Price very helpful. Maximizing the nutrition that is right for them may help. However, any food sensitivies (which are many times masked) can add to the problem, especially bakers yeast, which MBL's are prone to have problems with (research ASCA) .  Omega-3 has also been a boost, another thing you may want to research.  Best of luck!

[vWorriedMom]

My son has just been diagnosed with the same condition, and I have been googling non-stop to educate myself on this subject.  I came across the following very helpful article:  http://www.action.org.uk/touching_lives/2006/03/infections_children

It explains what treatment we can expect hopefully in the not-too-distant future and what serious illnesses we can expect as adults with low MBL...

I will definitely follow-up with Prof Klein who also happens to be our son's doctor in our follow-up visit at Great Ormond Street Hospital.  Will revert if I learn of any new developments.

I hope your children are all doing better now.

[feelinggreat58]

Hi,  I am a 52 yr old woman that after a lifetime of severe infections, chronic constipation, low blood pressure, low body temperature, etc was diagnosed with an MBL deficiency.

4 yrs ago, my allergist (severe dust mites only) tested me for MBL and found I was deficient (.57).  Prior to this discovery I was diagnosed with Autoimmune Thyroid.  One study suggested thyroid medication to correct MBL deficiency but I had been on thyroid medicine for 2 yrs and I was still deficient.  

I am working hard on hoping to find the best treatment for us.  Vitamin D levels at 54 (using liquid D3) have made me feel substantially better.  Good Luck everyone!

[Jasminena]

Hi all,

I have two children and my eldest nearly eight has both MBL and IGG3-SID She was diagnosed when she was two. We have been fighting a constant battle with her health. Especially from March to September (Australia) over our cold months. She has been on long term antibiotics over winter. She not only suffers from infections although not as many as she use to, but also some reactions to the antibiotics as well.

She was starting to improve but two years ago she got really bad again. The immunologist keeps saying he doesn't want to put her on Immunoglobulin Replacement Therapy, but one issue contradicts the other.  If anyone has any info to help me that would be great.

Does anyone have any information on the best treatments for both of these. Issues It has always been hard finding information that relates to her situation.

Thanks all I enjoyed reading your stories.

Hope all your kids are doing well.

[Butterflies12]

I have a nine year old son that was diagnosed when he was six. He had pnuemonias from birth and it took them until he was six to find out the reason why. I found out that I have it. As long as we keep our son homebound and out of school he does well. When exposed to many kids he starts to get sick again. My sons level is .05. I would like to start blogging and tell you all everything that me and my son have been through from allergies to breathing problems.Do your children have Ehler-Danlos? Stay with constant handwashing and keep pets away from your kids because they carry psuedomonias which is something that was very hard for my son to fight. I clean my house every two days with lysol wipes and as I said before my son does not go to school. We do not expose ourselves to lots of people constantly. The more exposure to people the more infections you'll get. I have seen that a bendadryl every other day has really helped my son. I try not to give him any antibiotics unless he is really sick. Good Luck and take care. We will fight for a cure. We need to form a group to help our kids. Please feel free to email me at ***@****.

[Katy5762]

I too, have recently been diagnosed with MBL deficiency.  I am using prophylactic antibiotics (September -May=our cold/flu season). I haven't had an infection yet this season, even after sharing an office with someone who was sick!!  Doesn't sound like a big deal but prior to being diagnosed and prior to treating, I would have been miserable with a sinus infection.  
Sounds like your son needs a little bit more help.  I am not a doctor but I work for a plasma donation center and am very familiar with Immune Globulin treatments.  IVIG/Gamma Guard is an amazing product and I work every day to make sure that we are collecting safe plasma to be used in making these products!!!  
If antibiotics aren't helping your son live a 'normal' life then I would encourage you to follow your 'mom' instincts, even if you need to find a new Immunologist!!
Good Luck!!

[becmarch]

I am SO glad to have found you, what a relief.  My daughter, 4 years old, was diagnosed with MBL deficiency last year and it's just been a nightmare.  Tons of infections, in the hospital all the time with asthma, fevers constantly.  We keep managing each event with the help of our immunologist and pediatrician but it has still been really hard to get some real advice on what this means for her going forward.  We tried parttime preschool and there was just no way, she was sick so bad, all the time.  She is supposed to start kindergarten next year and right now I just don't see how she could go to school and be around other kids, the only thing that has helped is keeping her as isolated as possible so she isn't exposed.  Does anyone have any thoughts on the kids going to school with this?  Has it worked out ok for you?  thanks so much for any insight, everything Ive found online is so technical, and doesn't give me a clear picture of what life with this will look like...

[doubleJZmom]

My son is 7 yrs. old, he was diagnosed at age 5 with MBL deficiency is levels are .01 he attends regular public schools but he wears a mask for his protection, he is also on rotating prophylactic antibiotics which means one month is sulpha, the next month amoxil, the next month sulpha, etc.... Does it cut down on being sick?   A little but whatever his life will be like (a long life or short life), my husband and I want him to experience life just like any other little boy.  There is something you also need to know about my son, he has had ASD closure for his heart almost one year ago and he bleeds from his nose profusely and has dime size bruising on his back, legs and arms.   He is being tested at Duke University Children's Medical Center.   Good luck to each and everyone of you.

[jenjenski]

My daughter has been diagnosed with MBL deficiency and is 18 months old.  Her doctor has also suggested rotating prophylactic antibiotics.  Does this help your son fight off more infections?  My daughter has been sick constantly for 3 months (respiratory infections, ear infections, colds, etc) but everyone chalked it up to being in preschool--now we know otherwise.  Have you been able to keep your son in school consistently?  I definitely want her to live a full life and be just like any other little girl as well.  Good luck and thank you to everyone on here-this is the most information I have found that doesn't have a ton of medical jargon.

[laydeebugg]

I am now 16 years old and have had trouble with my immune system since I was born, after discovering I had astma at one years old, glue ear, after having a virus simular to polio which paralysed my left arm, type 1 diabetes at 11 years old, multiple opperations and multiple chest and ear infections I was rereffured (I had been there for my arm) to Great Ormond Street at 13 years old they ran multiple tests and found that I have acid reflux and Low MBL I have now been given acid reflux medication and am on azithromicin 500mg three days a week for the rest of my life as it is one of the only antibiotics I am not allergic to , my health has improved conciderably and after only being in 60% of my GCSE's I came away with good grades and am now doing Alevels which I have only missed a few days of, I can not express how much I owe to Great Ormond Street and can not thank them enough , I would really love a career there helping people like they have helped me :)      

[1tofmum2]

my boys have MBL , they are aged 11 with a level of 48 , and 6 with a level of 60 . i am told for my 6 yr old 75 is a normal level , but apart from being told it is genetic , and an auto progressive immune dificiency i know little else , i am glad i have found you lovely people to share with .my eldest has many helth issues he is a TOF born unable to swallow , heart murmer , reflus , tracheomalacia , reflex anoxic seizures etc , my little fella has ENT infections regularly and a complex speech and language issue .

[KenzeesMom11]

My one year old daughter has been plagued with respiratory issues since she was just 2 weeks old and has to be hospitalized over a dozen times in her first year. We were shuffled from a pulmonologist, to an allergy doctor and finally to immunology before we got a diagnosis.  She has had tubes in her ears and her adnoids out at well trying to find something that will help.  She has been diagnosed with MBL deficiency and Transient Hypogammaglobulinemia of Infancy.  She is currently on a daily antibiotic as well as monthly IVIG infusions.  But thankfully we are starting to see a decrease in infections.

[hazelann70]

I have been diagnosed with no MBL in my system and that was only found when I had constant abscesses in my groin and arm pit.  I have since been diagnosed with hidradenitis suppurativa.  I would like to say that I am 42 years old and feel I have been very healthy most of the time other than suffering from obesity which is now under control following a gastric bypass.  However, my daughter has for the last 5 or so years (she's now 16) suffered from anything that may be going around.  She has severe allergies to virtually anything and constantly suffers with stomach cramps. She had to have 2 blood transfussions a couple of years back as her count was below 4 and they have never found out why.  We are now waiting for an appointment with the immunologist who I see as he wants to take her on.  He has already done her bloods and sure enough, she has inherrited the MBL deficiency.  I haven't read anything other than on here about MBL being related to allergies and would love some links to read if anyone can supply them to me.  

Has anyone suffered from veruccas? I had them for about 6 years as a teenage (same as my daughter) and after god knows how many years, I've got another one (had this one for nearly 3 years now).  The consultant has told me this is related to the lack of MBL.  Yet another thing I've not seen in any research.

I have read that MBL deficiency can be the cause of miscarriages.  That's an interesting one as I have had 3 in total.  I have 3 kids and one has special needs and so I now wonder if the MBL has anything to do with his problems! Hey ho, we plod on!

[sabbott84]

Wow, it's great to find a group of people who understand what I live...My son is 10 years old and just recently diagnosed with MBL deficiency.  He suffered a ruptured appendix at the age of 10 months resulting in a brain bleed and ruptured bowel that caused him to nearly die and suffer additional brain injury. He has significant developmental delay and hearing loss.  During his first few years of life he was hospitalized for numerous infections and has had to have sinus surgery twice due to severe sinus infections.  He is on a daily dose of anitbiotics, which seems to help, but still seems to get sinus infections often.  He can go from just a little bit sick to very sick in a matter of hours.  Like many of you, I have had difficulty finding much information on the internet that I can understand, as most of it is from medical journals.  I look forward to connecting with this group in the future and I hope that a cure or treatment is found soon.

[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.

[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

[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.

[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.

[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?

[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

[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

[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]

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