amber rahim

Chronic illness: the parts we don't talk about

You know your illness is rare when…

15 Comments

1.  The doctor gives you medicine, hoping for the side effects.

There are no medicines designed for Bartters or Gitelmans Syndromes (B&G).  Every patient is on a mix of medicines known for certain side effects and we hope that you will “suffer” from them.  For example, diuretics can lead to increased potassium levels so most people have to be careful.  Us B&G folk?  That’s what we are hoping for!  We lose potassium like our kidneys are leaky buckets and we’ve got to plug the holes.

2.  Most specialists haven’t even heard of your condition

Sadly, many people with B&G are being treated by physicians who don’t really know that much about these syndromes.  Often you are the nephrologist’s first patient with this condition.  Yay! You get to be a guinneapig!

3.  You know everyone on the FB or Yahoo support groups by name

There just aren’t that many of you in the world.  Genetics Home Reference estimates it at about 1 per million people. How special is that?

http://ghr.nlm.nih.gov/condition/bartter-syndrome

4.  Prognosis is not known.

There is such limited information that they don’t really know what the future holds.  “If you follow your treatment, you will probably be ok”.  Um, hello?  Remember number 1?

Well, to be fair, who does know what the future holds for them?

Bartters Syndrome, the kidney disorder that my daughter has, is a strange illness and pretty young.  It is named after Dr Frederic Bartter who first described it in 1960.

There are some standard treatments but they don’t really know why they work – just that a lot of the times, they do.

We have had 6 very “interesting” years with the first 3 being a relatively experimental approach to finding a good treatment plan.  For the last 3 years her condition has been stabilising so now finally, at the age of 6, she is doing pretty well.

Now we are at the tough choice time.  Do we change anything in her treatment plan?

For the last 4 years we have been giving her potassium and sodium supplements on an hourly basis.  That’s right.  We give her medicine every hour, of every day.  (We are not martyrs to her illness, we use a medical pump at night).  It is tiring for us but we have developed an amazing ability to know when an hour has passed, without looking at a clock.  In my science class at school I couldn’t even estimate when one minute had elapsed.  Now I am a time master.

More importantly though, it interrupts her day.  Can you imagine someone coming up to you 12-14 times a day asking you to stand or sit still?  How she stays so patient with it I do not understand.

She is stable now, so we could change to say, medicine every 2 hours.  But I hesitate.

  1. Can I retrain my brain to this new schedule?  I might actually have to think about what I am doing!
  2. More importantly, what if this de-stabilises her?  Is the potential benefit of fewer interruptions to her day (and ours) greater than the potential risk to her health?

I just don’t know.  I think I’m going to enjoy this feeling of control a bit longer and leave things as they are.

15 thoughts on “You know your illness is rare when…

  1. Wow! I didn’t really know what it was like for you. Tough.

    • Well, it keeps her feeling good. She used to be on her pump 24 hours a day and then she learnt to walk. It’s a log of work but it keeps her stable so what can you do? It’s so totally worth it though.

  2. Good article, well put. I got tired being in the hospital haing to explain to everyone what I had, how I knew I had it etc.

    • Now that is one of the reasons I will never move – the hospital knows us and knows her illness. The people who don’t know about it know that they have to consult the neph.
      It’s a teaching hospital so they are (almost) all willing to learn.
      That would be my Christmas wish. Not peace on earth but that ALL doctors were still willing to learn.

  3. Thank you Amber. Thank you for writing this. I can sure see the need to keep things stable as long as you can. Things will change when she is more active etc as you know. Thinking of you

    • Hi Sonja,
      there is a part of me that thinks she would cope with the change in schedule better than I would.
      We are making a change in her nutrition schedule so I think we will let that settle first.

  4. This brought tears to my eyes, and down my face… I live with BS, and my heart goes out to you and your family. I am one of the “lucky” ones they say. BS waited until I was in my 30’s to rear it’s ugly head, though I was always small and sick, but told to shake it off by my parents. Heart attack and a year of almost daily labs, gave my diagnosis. There is hope, here I am. Warmest wishes and the deepest respect, I know your struggle. Never feel alone.

    • Hi Beth,
      thank you and I am touched by your note.
      That must have been hard, to feel sick for so long and for people to not realise that you were ill. How are you doing now? It is always reassuring to hear from adults with this illness. I do hope your treatment program is keeping you feeling good.

  5. Wow. I’m a nurse. Of course, I’m now disabled, but I’ve never heard of this before. My medical knowledge is pretty great. I have several chronic illnesses, myself. Every doctor I see says that all my illnesses are tied to an autoimmune disorder, but which one? I can’t find that one doctor that will go that extra mile to figure that part out. All my organs are being attacked, slowly and one by one. I never know what’s next.
    Thank you for sharing your story. I’m sorry that you have to even experience this. I’m sure it’s very hard to stay so strong as a mother of a chronically ill child and most doctors not even knowing about it. I know, that’s not very comforting. My mom has an autoimmune disease and doctors never seem to know what it even is. When my doctors ask about my family medical history and I mention my moms disease they just look at me like what? what is that? Your choice of doctors is pretty small and you really are a guinea pig and everything is just a guess. I sure hope your beautiful little girl is stable and continues to thrive. I will say a prayer for all of you. Have a good holiday season and a happy new year.
    HUGS,
    Wild Thang:)

  6. Hi Wild Thang:)
    thank you, my daughter is actually quite stable at the moment. It means that we can now focus on the eating problems and also just on her, the little girl.
    I’m sorry to hear that you are so ill and with several illness it must be so hard to figure what is causing the problems and how to treat one issue without creating more problems. Complex. Great respect for you for keeping going with this.
    Do you mind if I ask, do you and your mother have the same condition?
    Seasons greetings and happy new year.
    x

  7. Awesome to know there are others like me!!
    For me there isn’t even a support page, or a very clean-cut, clear diagnosis

  8. My daughter shares many of the same symptom constellations with her rare disease Branchio-Oto-Renal Sydrome. I empathize with your perspective and understand all too well what RARE means to a family. Even on wordpress it’s difficult to find others. Glad to have found your blog.

    • Hi Carole,
      welcome! how is your daughter doing? and you?
      can you recommend a good site to find out more about Branchio-Oto-Renal Syndrome. I have certainly never heard of it. Isn’t it strange how even when we deal with kidney conditions so intensively, there is still so much more out there that we do not know about?

  9. Pingback: Rare Disease Awareness Day 2014 | amber rahim

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