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.

[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.