Three Brothers Afflicted With Rare X-Linked Agammaglobulinemia (XLA) Are Sticking It To Their Rare Disease


We have four boys: Harrison (12), Holden & Langford (8) and Davis (7). Three of our four sons (Harrison, Holden & Davis – not Langford, Holden’s twin) have a genetic, inherited immunodeficiency called x-linked agammaglobulinemia, or XLA for short. XLA is in the family of “primary immunodeficiencies” or PIDs; this group includes other conditions. There are probably fewer than 200,000 people in the US who have some form of PID; there are fewer than 10,000 worldwide who have XLA. XLA is an immunodeficiency that affects only males.

Males who have XLA produce B-cells, but the B-cells never mature and so are unable to do their job. Their immune systems are basically only half effective. Without B cells, XLA patients do not produce immunoglobulins and are unable to fight off certain infections. Without treatment, patients are prone to multiple, recurring infections of the lungs, sinuses and other areas. There is no cure.

Luckily, there is an effective treatment: the patients get infusions of medicine that is made from donated human blood plasma and is then distilled to form a clear liquid that provides them with what they are lacking. They are all on a low dose of antibiotics, just prophylactically. Unfortunately, the infusion medicine they get (IVIG – intravenous immunoglobulin) needs to be administered often since their bodies use up the added immunoglobulins: for Harrison, who gets his medicine through an IV, this means monthly infusions. For Holden and Davey, we used to do weekly subcutaneous infusions, but have now gone back to monthly IVs.

The sub-q option is a great one for patients who can self-administer it, or who need less volume of the medicine. For us, with multiple kids to manage, it is actually easier to have one day a month that is infusion day, than remembering to do it every week, and sticking two kids in two sites. Now, we do a monthly infusion day for all three boys.

Holden and Davey get L-mx or Emla – numbing creams that reduce the sensation in the infusion site. We apply it several spots, but their hands seem to have good veins for now, and that is what the two of them prefer. Harrison has graduated from the creams, and likes the “stick” to go right in his arm, and he just sticks out his arm and gets that done. The IV infusion lasts about two to three hours, and the boys have small pumps that are put in bags, and they can be as mobile as they want (we have had soccer playing!) while they infuse.

Most important for us has been not to be viewed as a family with sick kids, or for the boys to feel that they are in any way prevented from doing anything. XLA is part of our lives, but it’s become about 95 percent rote: the way that other families might have kids brush their teeth, we have our boys line up for antibiotics (we brush teeth too, though we slack off on that sometimes – we aren’t superhuman, after all!)

Infusion day is a day to hang out at home and play: the “sticks” are almost beside the point. The boys can and do run around, play video games and have great snacks as they infuse. Outside of infusion day, the boys are as active as any other kids: they play soccer and go to school; they goof around, they take music lessons, they have lots of play-dates with friends, and they walk the dog, Darwin.

They have an incurable genetic condition, and yet they are 100 percent regular kids.

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Global Genes Comments

  1. beena santhosh says:

    hi jordan
    my now 4 yr old son was diagnosed with XLA when he was 16 months. He has been getting regular subcutaneous immununoglobulin. i try not to think about it much because i get really upset and tearful thinking about his future. i would like to know what kind of treatment are you on and how are you coping (work, treatment,activities etc)

  2. Hi. I am a female who was recently diagnosed with XLA. I guess that we are super rare. Ugh. Not that happy with being a unicorn in the blood disorder world, but happy to have found you all. I start my treatment on Friday and am super nervous. Any tips?

  3. I am a 32 yr old male. XLA diagnosed since birth. My brother and I both have XLA. I’d be happy to talk with anyone here who might have questions.

  4. I had 2 brothers with xla. I have a grandson with it also. One of my brother died at 46 yrs. Due respiratory problems. He got his IVIG every 2 weeks. My other got IVIG till he was 15 yrs old. and now he gets only when he is very sick. He is now 55 yrs old. I don’t think this is smart, but this is what his doctors thought was best. Now my grandson is 19 yrs.. He gets IVIG every 3 weeks. The xla has caused his to have arthris, hypo thyroid, numerous sinus infections. Because of the sinus infections he doesn’t have a since of smell or taste. It also has caused him to have a bad body odor. Need to bath often. He recently was off his IVIG (Due someone error in his disability coverage being drop by error). He got a very bad sinus infection and is still fighting it. My sister and I had boys and none of them got the disease but one of each of our girls had 1 son with the disease. So it skip one generation. All daughter must know that they are carriers of this (if you have relatives with this). Because I couldn’t get doctors to listen to me. We almost lose him. Finially one doctor did even when he didn’t think that’s what he had. They thought cancer because of his high white count. He did the test and came back saying he wouldn’t believe this what he had if he didn’t do the test and see the results for his self. His arthritis doctor said because of the IVIG it has cause his arthritis not to get as bad as most children with arthritis. He really feels that this is what stop his from getting as bad and has released him from see him. The earlier they catch this the better for the patience. My brothers weren’t diagnosed until they were toddlers. One had his lung collapse. The other one had a high fever and was real sick. It is had to find doctors who know what they are doing. We are very lucky we moved here because we have had several doctors with training in disease.

  5. my 18month old son was diagnosed with XLA four months ago, and he’s taking his monthly IVIG. He is very well with the treatment and lives a normal life, the only thing that reminds me that he has a condition is that he coughs with a sound of having a phlegm, any idea how to get rid of the coughing and that phlegm?!!

    • Diego Viteri says:

      Hi,
      I am 23 years old. I use to be a patient in St. Jude Children´s Research Hospital. In order to prevent possible lung infections, he must take antibiotics daily, as I have been doing it since I was a baby. He needs to be checked once a year at least with x-rays for his lungs. Please e-mail me so I can give you some advice I have done. Are you having trouble getting the gammaglobulin? How are you getting the medine?

  6. Marla Manske says:

    I have a husband I married 2 years ago, whom will turn 50 in September with XLA. I must admit, until I met him, I had no clue what XLA was our meant!

  7. Health is key to a healthy life, let take all the measures to boost our health

  8. Anders Lemke says:

    My son just got diagnosen with XLA. 4 months old. Our world got turned upside down.
    So it really helped reading your story.
    I’m worried and freightened by what’s in store for my son, but try to keep a positive attitude.

    • Michelle says:

      I have two sons with XLA. They were diagnosed when my youngest was 40 days old. It was like a bomb went off in our lives! I know what you are going through! It gets better. Our 3 year old is a completely different kiddo now that he is receiving monthly IVIG and our youngest is now 18 months and he is as wild as he can be! There are hard days for sure, but as long as they get IVIG every 4 weeks things are better. It was a very hard first year so if you any questions you can contact us and we can tell you what has worked for us. We are all in it together! I feel like we should find or start a good support group for parents!

      • Diego Viteri says:

        how are you managing to get the medicine? I am 23 years old with XLA. Are there any research centers that you are aware of? I use to be St. Jude Children´s Research Hospital patient, but they closed the immunology clinic. Please if you can suggest where to find medicine or a research I really appreciate.

      • Anders Lemke says:

        Hi Diego,

        We live in Copenhagen, Denmark, Europe.
        Here we can get the medicine from our local hospital, Rigshospitalet.

        I’m sorry I can’t be of more help.

  9. samantha maart says:

    Hi everyone, I have a 5year old son that also has diagnosed with XLA 3 years ago alot of my cousins was diagnosed in the 1960 –1980 and all of them since has passed, my son is the latest and only one in my family with this deficiency at the moment. Would like to get in touch with other parents who has boys diagnosed with XLA because we can share lots of ideas with each other that works. Remember you not alone we going to get a cure hope and pray soon with further studies in gene mutation. Drop me a inbox please or invite me on facebook. I’m Worcester in the Western Cape South Africa

  10. karly oropeza says:

    my fiance was diagnosed just 7 years ago he is currently 40 years old and fought through his life with many infections because it was not diagnosed until he almost died from a plural lung infusion from all the pneumonia infections that kept recurring . your story made me happy because there is a chance for all these young kids now to get the treatment they need out of all the research iv’e done iv’e never came across a case where they were diagnosed so late in life . jeremy gets the monthly infusions as well but his body seems to have a bad reaction so they have to infuse very slowly this last treatment took us almost 12 hours to complete . Have u herd of cases such as his i’m trying to research as much as possible and ive just recently learned of the subcutaneous method im wondering if jeremys

    • Diego Viteri says:

      IVIG always takes that long, it is a medicine in which you need to infuse it slowly otherwise you may have a reaction to it. Maybe try switching to Hizentra Subcutaneous. How are you getting the medicine? I am having trouble getting it.

    • Diego Viteri says:

      IVIG always takes that long, it is a medicine in which you need to infuse it slowly otherwise you may have a reaction to it. Maybe try switching to Hizentra Subcutaneous. How are you getting the medicine?

  11. My boyfriend and his brother has been living with XLA he will be turning 22 this coming November and his brother will be 18 this year, they also have nephews that have XLA as well. He is so happy to see this, know that there is support and that him and his family are not alone.

  12. My son turned 12 weeks old today and he has been diagnosed with XLA. We had our first IVIG treatment this week. We have a Facebook page called Jack’s Journey with XLA.

  13. Hello, in June of 2015 I will be biking across the USA on a solo trip to raise money for the treatment and support of children with XLA. The name of the campaign is “30 Days for 30 Kids”. I would like to feature a child and/or family each day of the ride to inspire people to donate. Although the campaign states “for 30 kids” it really is to support anyone with XLA, it’s just sharing 30 stories. The goal is to raise $60,000 in 30 days.

    I am posting here in an effort to reach out to find families/children to be a part of this campaign and allow for me to share their stories. If you would like to be a part of this fundraising event, please contact me at Doug@RousarDance.com

    I have started a Facebook group as well https://www.facebook.com/30Days30Kids

    Thank you for your consideration.

    -Doug

  14. Thanks for sharing! My son has XLA and was diagnosed at age 1, and he will be 3 this upcoming Oct. How do you handle explaining and discussing classroom responsibility to their school and teachers in regards to hygiene and sickness in general?

    Our son, thank gd, has been doing well, but he does have a persistent congestion. It seems what is a one day cold for my other kids is a season long one for him. I hear this is a commonality among xla patients. Do any of you deal with this? I wash his hands a lot! and have been trying to be less neurotic about it.

    Any tips from other XLA mothers?

    Thanks so much!

  15. Ligia Evangelista says:

    My beautiful nephew is 1 year and 8 months old and is a XLA patient. Our boy has gone through so much already but has kept his vibrant smile and happiness.
    Thank you for sharing the story of your boys. They are so cute!!!

  16. sherri Lin says:

    my son 13 years old boy, is a XLA patient, now he receive sub-q every week, he coughing very often
    I’m worry about his futurn life.
    Thank you for share your story

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