Doctors call it a great masquerader.
We're talking about AL amyloidosis.
It's a rare progressive and grievous disease
that is likely under diagnosed.
Today we meet one woman who is battling this disease head on as
she tells us in her own words.
It's a behind the mystery.
(music).
(VO) I was experiencing fatigue, which
we put down to chronic fatigue syndrome, and
then as my symptoms progressed, I put them down to different
symptoms of aging.
So having tingling fingers to dishpan
hands, my ankles would swell up at the end of the day, which I'd
attribute to sitting down at a desk working for too long.
When I stood up I would faint, and so
I just avoided standing up.
And shortness of breath I would put
down to not being fit, and so it was easy to pass off symptoms
which progress slowly.
My name is Isabelle Lousada and I was
diagnosed with a rare disease, AL amyloidosis, 20 years ago.
Amyloidosis itself is a disease in which amyloid fibrils occur
in the organs of the body.
The most common type is AL.
AL amyloidosis is a disease, like
all amyloidosis, in which amyloid fibrils deposit in the
body's organs, causing organ related toxicity, organ
dysfunction due to an accumulation of deposits that
cause the heart to work less well, the kidneys to spill
protein, the liver to get very large and uncomfortable.
The protein, in the case of AL, is a
light chain protein which is part of an antibody.
It's a fragment of an antibody, that's
made by a family of abnormal plasma cells in the bone marrow.
This family is malignant, it's a collection of malignant cells,
all of which are the same genes and make the same fragment, the
same light chain.
The light chain circulates throughout the
body, deposits in various organs, making the patient sick.
I'm recently from London and I met my husband who's American
while we were both living in London.
And we flew out to celebrate, to the States, to
celebrate our wedding, and at the celebration of the wedding I
met all my in-laws for the first time, and my brother-in-law
realized, he was a cardiologist, saw that I was clasping my side
and clearly didn't feel well, and he was the one who reacted
and rushed us to the emergency room thinking that there was
something significantly wrong.
The disease is considered a great masquerader, because the
symptoms are so varied.
When patients have heart involvement
their symptoms are shortness of breath, heart palpitations, and
abnormal heart rhythms.
They can also have congestive heart
failure, which means fluid builds up.
Patients with kidney involvement can have swelling of
the ankles and the legs, they can have accumulations of fluid
in the chest as well as in the abdomen.
They can also have light headedness when they stand
up.
Patients with liver and GI involvement can have massive
enlargement of the liver, that compresses the stomach.
So they tend to lose weight, they can't
eat more than two or three bites of a meal.
Patients with peripheral nervous system
involvement can get weakness and pain, usually starting in the
lower extremities, as well as difficulty with blood pressure
and heart rate when they change positions.
The variety of symptoms and the rarity of the
disease, it's not unusual for patients to go to 5 to 6 to 8
doctors before they're diagnosed, and it's not unusual
to have many tests repeated as well.
So the test that showed in the US that my liver was
involved, I came back to England and it took another 3 months to
finally get diagnosed with this rare disease.
By that point my health was really deteriorating.
I was barely able to do anything, and it was a
coincidence that the doctor who happened to have had some
experience in this disease actually tested for it.
And by the point I was diagnosed I had
multiple organ involvement, my heart, liver, kidneys, spleen,
were in all in really dire condition, and I was incredibly
ill.
And when I went to see the specialist in this disease, they
thought that I probably had 6 to 12 months to live if I had no
treatment.
I started off having some chemotherapy in England
which didn't work and didn't help, and we came out to the
states where they were starting an experimental program.
I received a phone call from
Isabelle's brother-in-law, cardiologist in New Jersey, who
told me about her.
We had her come to Boston from the UK, this
story has been published quite widely, and she was quite sick
when she came.
And I took part in that and had massive high
dose chemotherapy to go with it, and it was hell.
I went through hell.
It took 8 months to get through the treatment, and at
the end of it, very slowly, my health has improved, and it
took- it was a long road to recovery.
Fortunately the family of cells in the bone marrow that
was causing the disease was eliminated, and she was young,
she was in her 30s, the elimination of those bad cells
enable her organs to recover, and she made a miraculous
recovery in terms of heart, liver, kidneys, and her nervous
system.
And she's put her time to great use.
The hardest thing has been that over the last 20
years I have met literally thousands of patients who have
all died from this disease.
And so it absolutely drives me to
spend 60 hours a week working to change the future for all these
people who are suffering from this disease.
I founded the Amyloidosis Research Consortium
2 years ago to raise awareness and really breakdown the
barriers for drug development so that promising new therapies
could get through the system and we can get treatments for
patients.
We are entering a new era in which there are therapies
now, and these new therapies are designed to help the body remove
amyloid from the tissues and hopefully reverse the organ
damage that is a hallmark of the disease.
We're at this amazing moment in time where there are
drugs that are being developed for these diseases, and it's
really really critical that doctors know about them, that
they put patients on clinical trials, because we need these
treatments desperately, and most patients don't do well.
And there is real hope in the
future, but we need to really work collaboratively to get
those.
Ultimately it will be the benefit to the patients
demonstrated through clinical research that will result in the
approval of 1 or more of these agents.
And when this is so important, because this is a
rapidly progressing fatal disease, and patients are
typically seen by about 5 physicians before they get the
correct diagnosis, and they run out of time in that time.
The case of Isabelle is a rather
unique case.
She is alive and reasonably well now, very very
busy, it's 20+ years since her stem cell transplant.
For a patient to have extended
durable, complete remission is extremely unusual, it's probably
as you would imagine 2 or 3% at most of newly diagnosed
patients.
I've slowly, my body has recovered, my organs have
recovered, and I have been in remission every since, and I'm
the exception to the rule, I feel absolutely blessed to be in
this position.
Today I feel great.
We live outside of Boston, and I live with my
husband and my 3 children, and there's definitely been a shift
in my career path, and from my experience, I feel that my
life's work is really trying to find answers for this disease,
and helping other patients, and certainly I appreciate the good
things in life.
(VO) For more information on AL amyloidosis,
please visit the websites of the Amyloidosis Research Consortium,
Amyloidosis Foundation, and the Amyloidosis Support Groups.
(music).
What courage she has.
Absolutely, and for more information on AL amyloidosis
and clinical trials, you can visit amyloidosis.org.
Or you can go to our website,
theBalancingAct.com