amber rahim

Chronic illness: the parts we don't talk about


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You know your illness is rare when…

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.