Scientist Cures DBA in Mice

It sounds like an incredible headline from a tabloid, but its true:  Scientists cured DBA in mice!  (click to read the research article).

It is the best news from the biomedical front I’ve heard in years, ever since the hematologist told us he suspected Adahlia suffered from bone marrow failure due to genetic condition, and that we were in for a marathon, not a sprint.

I’ll never forget how I felt in that room.  I could not believe him.  It just didn’t seem possible that Adahlia had some incredibly rare, disabling disorder.  And his words didn’t sound like friendly advice, they sounded like a curse.  After all, she was only 6 weeks old.  Nothing like this was expected or suspected in our family histories.  Who had even heard of DBA? Why was he jumping to damn her to an incurable condition, to pain and impairment?

If willpower could change reality, he would have been wrong.  But he was right.

Since her birth, we’ve done more interventions from a multitude of medical traditions for Adahlia than I could possibly count.  And they have helped her.  I know this because the hematologists weren’t the only ones who have been right.  The chinese herbalist has been right.  The shonishin (Japanese acupressure) practitioners have been right.  The Amish healer was right.  The naturopathic physician’s nutritional analysis was right.  On and on.  Each person’s expert diagnosis has illuminated a different piece of the puzzle.  And so we have acted upon their advice, have given her supplements and treatments, and we have seen her improve in many ways — because the failure to produce red blood cells is actually just one of DBA’s many mysterious symptoms.

She’s thriving in many ways.  But, she still doesn’t go more than 5 weeks without needing a blood transfusion.

She’s still not making enough red blood cells to survive.

Every transfusion is a struggle for me, as I counsel myself to remain steadfast and to not give up hope, to focus on all the positive changes we have witnessed.

And, moreover, to learn the true meaning of inner peace, to be aware of a larger reality that I have been privileged to glimpse and share, to know what it means to be centered in a calm beyond the storm of loss and hope and desire and fear.  To learn to let go of hope as much as to let go of anger.  To be able to perceive and accept what is, and to see joy and beauty and grace as it is, without wishing or thinking to change or improve it.

Yet, as the title of this post suggests, I have recently been offered an unexpected hope.

A researcher has been able to cause and cure DBA in mice who have bone marrow failure caused by a genetic mutation to RPS19 – which is a ribosomal protein.  They cured it by injecting the DBA mice with a virus that has the correct version of RPS19 attached to its DNA, so that when the virus entered the mouse cell and infiltrated the cell machinery, so that the cell would create more copies of the virus, the cell also began making copies of the correct RPS19 gene.  The result?  The mice were cured.

It is called gene therapy, and its a relatively new and very controversial field.  Its controversial because years ago, it was approved for a different incurable genetic condition, and it worked, but then all the patients developed leukemia and so genetic therapy was stopped.

The researcher in this case states that he has seen no evidence that DBA gene therapy would then trigger leukemia, partially because it is more selective about which cells it invades.  There are other concerns, of course, about what other functions would be affected by this therapy, because researchers still don’t understand all of the far-reaching effects of individual genes.  The therapy is still a long way from being approved for the first human trials.  But it is a strong positive first step towards cure via gene therapy.

There are a dozen or more genes that seem to able to cause DBA.  The researcher chose to focus on RPS19 first because it is the most common mutation that causes DBA, and because it seems fairly straightforward:  those with the RPS19 mutation typically don’t have additional complications that can occur with some of the other gene mutations.

Adahlia does not have RPS19 genetic mutation.   But if gene therapy does prove to be a cure for DBA for RPS19, then scientists will eventually try it for the other gene mutations as well.  Since Adahlia does not have a bone marrow transplant match, gene therapy is her best hope for a cure from western medicine.   (Honestly, I do not know if I would elect to risk her life with a bone marrow transplant even if a match existed — and I am not alone in that opinion; in fact, a prominent expert DBA hematologist told me that he wouldn’t recommend it for her, since she is so healthy otherwise, it wouldn’t make sense to risk her life with a failed bone marrow transplant when she can continue to live with transfusion.)

It will likely be years, even decades, before gene therapy is approved for Adahlia’s genetic form of DBA.  In the meantime, we will continue to do everything we are already doing from a natural medicine perspective.  Genetic mutations are not as uncommon as one might think.  It is quite possible to have one of the DBA genetic mutations and not have DBA.   One of the amazing mysteries of the body is the expression of genes.  Something triggered the expression of that gene in Adahlia.  I believe it is possible to turn it back off, to turn a different gene on, and get her body turned toward a state of healthy expression.

But just in case I’m wrong, it’s absolutely wonderful to have a new hope — to know that biomedicine has devised a very real cure and is working on it making it patient reality.

And yet.

It takes nothing away from the real lesson here, from the opportunity this provides to see something truly powerful.  Cure or not.  Hope or not.  Neither of those things are the point.

The point is that the only reality is what is.  Not the future – bad or good.  Not the past.  Not the way we wish things could be.  The only reality and the only thing that matters is what is actually happening.  As it happens.  Right now.

If you reject a moment, you reject life.

If you reject life, you reject yourself.

Accept life, and accept yourself.

Love yourself and accept the moment.

Watch it change.

Take a breath and look around you.

And then take a look within you.

They match.

This is what is.

This IS what is.

Accept yourself and love the moment.

Watch it change.

Losing count, gaining ground

If you’ve ever climbed the steps to an ancient temple, you may have tried, at least for awhile, to count them.  If you’ve ever tried to climb a mountain, you may have looked up and thought with relief: perhaps only an hour more! and then, hours later, found yourself still climbing.  Supposedly, once you earn so many million or billion dollars a year, additional earnings stop having any meaning, because your quality of life can’t improve further.  And if you’re over the age of 25, it may start to strike you that the all-important-birthday just isn’t that important anymore.

Not that the numbers don’t have meaning.  They do.  Of course they do.

But at a certain point, numbers don’t really matter.

It becomes all about the experience.

I’ve lost track of Adahlia’s transfusions.  We might be around 28, or 33, but its somewhere close to 30.  It’s a hideous number, of course.  In fact, its a dangerous number, because it makes blood transfusions seem almost normal, and they are anything but normal.  A successful and safe blood transfusion is, in fact, one of the more recent and advanced procedures of our modern medical era.

But the numbers don’t really matter.  She’s had a lot of them.  That’s what matters.

She went 5 weeks between transfusions again, and that’s wonderful.  Her iron stores seem to be dropping again, which is wonderful.  She isn’t making baby red bloods cells anymore, which is not as wonderful. Her doctor told me that she didn’t want to continue measuring Adahlia’s reticulocytes anymore, because Adahlia wasn’t making them, and wouldn’t make them.  The doctor said, “It doesn’t tell me anything to continue to track them.”  When I countered that Adahlia made a normal amount of reticulocytes last month, the doctor dismissed my words and said Adahlia’s reticulocyte count wouldn’t go any higher than that, because “we aren’t doing anything to stimulate the bone marrow.”

What she meant was:  there’s no point in looking for improvement, because we aren’t doing steroids.

The look on my face must have communicated something, because she then said, “of course, if you want to continue doing the counts, then we can.”

Again, I said nothing, but when we arrive for our next transfusion next month, you can be sure I will make sure that the doctor has ordered a reticulocyte count.

Numbers matter when you’re trying to track improvement.

And while I’m not doing what the hematologists would do to increase her reticulocyte counts, it doesn’t mean I’m doing nothing.

It gets mildly aggravating, having various doctors continually push a medicine on me for my child that I don’t want to do because it has permanent, life-altering, side effects.  But, like in climbing a mountain, when the storm unexpectedly rolls in, I’ve learned to wait for it to pass.   I’ve learned that it doesn’t help to throw my walking stick at the thunder clouds.

It does help to be prepared to deal with the storm, though, and that means I have to pack the necessary mental equipment.   Just because its rainy and the wind is blowing, doesn’t mean I need to get wet and cold.  Over time, I’ve become very adapt at handling various doctor storms.  I have more than a few good storm stories.

Like perhaps any mountain climber, I’d prefer the day to be sunny and temperate.  I’d prefer there to be no storms.  Yet, storms are a part of life, especially near mountain tops.  Perhaps someday, I’ll learn to enjoy them.

Last night, before dinner, I gave thanks for the next 3-5 weeks of life that Adahlia’s transfusion purchased for us.  We live in 3-5 week increments.  Because while no child’s life is guaranteed, Adahlia’s life literally runs out when her transfused blood runs out.  Two nights before the transfusion, I cried next to her as she slept.  30 miles from the hospital, for the first time ever, Adahlia resisted where we were going.  In the rear-view mirror, she told me: “No doctor.  No hurt.  Home.  Home!”

Of course numbers are important.

Especially certain numbers.  Over so many thousand feet, you’d better pack gear for camping, because you can’t climb that mountain in a day.  If your creatinine rises past 1.1, why, my friend, you are in kidney failure.  Better do something about that.

In addition to her ferretin dropping and iron overload decreasing, the numbers say that Adahlia’s liver and kidney function is improving.  In fact, both her liver and kidney function are near normal!  In addition, she remains above the 50th percentile in both weight and length and weight-for-length.  This means that the nutritional and supplemental alternative medicine we are doing for her is probably helping.  It is, at the very least, not hurting.

Let’s talk more numbers.

In July of this year, I had a nuclear medicine kidney function test and it said that I only had 10% function remaining in my right kidney.  The doctor said it wasn’t worth saving, and that they should remove it.

Last week, about 5 months after that test, I had the test repeated.  The report came back that my right kidney was functioning at 19%, and the doctor called me to say that they would schedule the surgery to save it.

Folks, you may not know anything about kidney function.  But let me tell you what is medically accepted about it:  Once you lose it, you don’t regain it.  Certain supplements might keep it from getting worse.  But they won’t help you regain what you lost.


It IS possible to regain kidney function.  I just did it.

And, what’s more, is that I intend to keep doing it.  I must admit something here:  I am a rather terrible patient.  I find it incredibly boring to take vitamins, supplements, herbs, etc.  I truly dislike having to give myself acupuncture and other medical treatments — not because they are unpleasant, but because there are always 20 other things that I’d rather be doing.  It gets old being sick, being tired, being weak.  It gets annoying having to be super diligent about medical routines necessary to bring about health.  There’s no doubt about it:  Being chronically ill is a drag.

So, with all this moving to a new state and other demands, I must confess that I haven’t been as consistent as I could have been.  When it comes to electro-acupuncture, I could do more of it, on a more regular schedule.  I can increase my dosage of certain supplements to the maximum recommended dosage and never EVER miss a dose.

The bothersome thing about having to save oneself or a loved one from a chronic (or terminal) condition, is that one must be a perfectionist about it.

The numbers give me hope.  Yet, I must admit, I was hoping for better.  What these numbers tell me is that I must not only continue what I’m doing, but do MORE, and do it more CONSISTENTLY, in order to have the best outcome for myself and for Adahlia — a successful surgery to save my kidney, and a cure for Adahlia’s bone marrow failure.

I’ve had 4 surgical procedures to try to keep my right kidney draining properly since May of 2013.  The last one was on August 1, 2014.  Because of how the numbers play out, my doctor doesn’t feel comfortable letting me keep the current stent until they can schedule the surgery to fix my kidney in February.  It would be over 6 months — and its recommended only to keep a stent in place for 3-4 months.  So I will have to do another stent replacement surgery before February.  (This makes it my fifth.) The fact that I was able to resuscitate my kidney enough to get them to save it makes me happy, but the fact that I now must have two more procedures, not one, does not thrill me.  I know more than the lay person about all the harm that anesthesia, antibiotics, and foreign objects inserted into the body do to the body’s health and vital force.  Every procedure puts me back many paces.  I can now expect to be climbing this mountain to recovery for at least another year.

But, it must be done.  So, I am having a less-invasive surgery to switch out this stent with a new one on December 22, and then the “big” surgery to repair my kidney’s drainage issue a couple months later.   It is amazing to me that I am still dealing with something that first had me moaning back in April 2012, when I was 7 months pregnant with Adahlia.   There have been meadows and cliffs.  There have been storms and sunrises.   I can only describe it as “one hell of a mountain.”

And I did not know it when I first began to climb — I thought it was only a bump. Even so, I somehow, miraculously, had all the tools I needed to climb it, and whatever I didn’t have but needed, I am finding along the way.  It is nothing sort of amazing.

Old explorers coming upon — and then crossing — the Rockies must have felt the same.

Of course, on a larger scale, isn’t it true of life in general?  We are born with all we need for our lives, our personal mountain.  And everything we don’t have but need, we will find along the way.

As a fan of symbolism, I’d also like to say that I am excited by the fact that my next surgery will happen on the winter solstice, the return of the light. After all, the right kidney is considered Ming Men, Gate of Life, and it holds the Yang life force of the body.

I have every intention of building the light and power (function) of my right kidney between now and February, when the surgery will happen to fix whatever is occluding the kidney’s flow.  The stronger my right kidney is functioning, the better chance we have of the surgery being a success.

And there is also one other esoteric hope:  when I was pregnant with Adahlia and my right kidney failed, the chinese medicine pulse on my wrist that was connected to Adahlia dropped out and was barely palpable.  It was so strong up to that point.  My heart sank when it sank, but nothing my expert acupuncturist did (a specialist in pregnancy) or advised me to do (such as drinking herbal strengthening broths and soups) raised it.  In many spiritual and esoteric traditions, especially according to Rudolph Steiner, the child’s energy and health is closely tied to its mother’s energy and health during the first years of life.  Gradually, the child develops a more independent energy field.  There is a hope, though it may seem far-fetched, that if my right kidney function is restored, and the occlusion is cleared so that the energy and fluid can flow again from it, the Gate of Life in Chinese medicine, then Adahlia’s energy pattern will be healed too, and her own Gate of Life will flow, and she will recover on her own.

At any rate, my friends, those are the numbers.  Meaningful and meaningless, carriers of dismay and hope, at once both intimidating and motivating.

They are powerful because of their meaning.

They are meaningless because they hold no power.

We do.

In every.