COMOROS ISLANDS East Africa, July 1983
(in Swahili) Omouri, what's happening?
(in Swahili) Which hand, Lorenzo?
(in Swahili) It's superb.
- It's yours. - Then it's even better.
- One orange. - (class) One orange.
- Chungwa moja. - (class) Chungwa moja.
- Two oranges. - Two oranges.
- Machungwa mawili. - Machungwa mawili.
- One pineapple. - One pineapple.
(in Swahili) This is my mother. All her sisters have red hair.
They call it "Murphy" hair.
This is Papa. He's Italian. He wants to go home to Italy...
..because the tomatoes in America taste like cardboard.
But the World Bank wants him back in Washington.
(in Swahili) And what's this?
This one is me - Lorenzo Michael Murphy Odone.
But why paint all this on a kite?
So Omouri won't forget what we were like.
What a lovely "goodbye" gift.
(Lorenzo) Omouri! Omouri!
(in Swahili) Guess which hand.
Omouri, get ready.
WASHINGTON DC
Here he is, the cleverest boy in the world.
Three Months Later
- Hi, Mom. - What's this?
- It's a picture. - Oh, my goodness.
- And there's the Comoros. - Of course it is.
- Mrs Odone, may I have a word? - Very skilful, sweetheart.
- And Jupiter. - Jupiter next to the Comoros?
- I'll be right there, Lorenzo. - OK, Mommy.
- Is Lorenzo having problems at home? - Not that I know of. Why?
Today he started throwing paints around. He went wild, destroying other paintings.
- He must have been provoked. - No, it came out of the blue.
He's normally such a terrific kid.
- Darling, were they teasing you? - No.
- Were they touching your paints? - No.
- How were they annoying you? - They just were.
- Doing what? - Things.
- What kind of things? - Things that make me feel annoyed.
(bell rings)
- Mrs Odone... - Another incident?
Yes, and today it was much worse.
Mrs Odone, is there some trouble at home?
Why do you assume the trouble's at home?
Because there's nothing here that explains his behaviour. It's... disturbed.
(# Italian opera on radio)
(Lorenzo screaming indoors)
He does present as a hyperactive.
- But don't they repeat tasks endlessly? - They perseverate, yes.
Lorenzo's activities all have a structure: beginning, middle and end.
My gosh, he's learned three languages. How could he be hyperactive?
I know it's hard to accept that a gifted child may also be disturbed.
(woman) Lorenzo needs to be referred to an IDP committee.
- What's that? - For what?
Individual Disability Placement.
Lorenzo needs to be in a special ed class.
Any special ed our son needs will be provided at home.
Anyhow, it was snowing and he began to rub my hands to warm them.
Uh-oh.
No, he then produced photos of his wife and children.
- That old routine! - Oh, Deirdre!
Had I known this was the man I would wait ten years for,...
- ..I'd have let you pick up the cheque. - I did.
Excuse me! You did not!
(guests continue chattering)
Lorenzo's fallen off his bike and he is really bleeding.
Sh. That's a boy.
Oh, such a brave boy.
Doing just fine, here.
(Mr Odone) You're going to be OK.
It's Christmas Day, you know.
All across the country little boys are trying out their new bikes.
Hey, champ. I think you'd better tell your folks to lighten up.
What are they gonna do when you're playing for the Redskins?
The EEG is normal, the skull x-ray is normal and the CT scan is normal.
I don't know what to tell you. This boy is neurologically intact.
Doctor, we spent three years in East Africa.
- In the Comoros. - We were wondering...
Well, if he might have picked up some rare parasite.
It's possible.
(sudden loud classical music)
Lorenzo, what are you doing?
Lorenzo!
Sweetie? Can you hear Mommy?
This may be an auditory processing difficulty.
The ears hear all right, but the brain has trouble listening.
So, this means something is affecting his brain.
But what? A tumour? Multiple sclerosis?
It could be any one of a dozen things.
WASHINGTON CHILDREN'S HOSPITAL
Easter Weekend 1984
Listen, my friend. I'd like you to come and stay in the hospital for three days.
Your mom and dad can come too.
We're gonna run some tests and get to the bottom of this.
Can you hear the sound?
Keep your eyes right on that spot for me. That helps me out.
All right. Now close your eyes.
Keep your eyes closed, buddy. Stay nice and still.
(choir singing hymn)
Of course, Easter festivals existed long before baby Jesus.
In pagan times, they marked the beginning of Spring.
The egg tells us that the earth is going to be reborn, just like a little baby chick.
- I get it. - Mrs Odone. Mr Odone.
Dr Judalon is ready now.
Hey, Lorenzo, would you like to go feed the goldfish?
It's all right, sweetheart. Go ahead.
We'll be right back in just a few minutes. Go ahead.
This way, please.
Please, have a seat.
(air conditioning rattles)
Well, we certainly don't need that noise, do we?
So...
Please, Doctor, without equivocation.
There is a family of diseases. It's quite rare.
The leukodystrophies.
Lorenzo has one of them. It's called ALD.
ALD is an inborn error of metabolism that causes a degeneration of the brain.
It only affects males, usually between the ages of five and ten.
Its progress is relentless. The end is inevitable.
All boys with ALD die, usually within two years of diagnosis.
And there are no exceptions?
I am so sorry.
- Are you absolutely sure? - Yes.
Lorenzo shows the definitive sign:
..an abnormally high level of fat in his blood, certain long-chain saturated fats.
Oh.
Uh...
These fats... destroy his brain?
But how?
There is an enzyme that should metabolise these fats,...
..but in ALD boys it's defective.
So they collect in the nerve cells, a little bit like a cluster on the arteries.
And... in some way...
..this liquefies the white matter of the brain.
"Some way liquefies"? Could you be more specific?
Well, to be honest, we're not quite certain just how it works.
- You know what myelin is? - No.
Myelin is the fatty... sheath that insulates the nerves.
It's a little bit like plastic around electrical wires.
Without it, the nerves cannot conduct an impulse.
What ALD does is strip away the myelin. It corrodes it, if you like.
This causes degeneration of the brain and the body loses its functions.
But surely someone, somewhere, must be working on this, no?
- We would go anywhere. - Yes.
Ten years ago the disease hadn't even been identified.
We're still trying to understand just what it is.
I would like to offer you some hope, but...
Then there's absolutely no treatment?
Normally at this point we try to be constructive.
We try to focus on what can be done.
But in this case...
When we get home, can we read a story?
Of course, my darling.
Lorenzino, let's go home.
(sobs)
(phone rings)
(woman) Mr Odone? I have a Dr Judalon on line three.
- Good. Put him through. - They're waiting for you in the meeting.
All right, thank you.
- Hello? - Augusto?
I just got off the phone to Gus Nikolais,...
..a professor of neurology at the Institute of Childhood Diseases.
If there is a so-called "world expert" on the leukodystrophies, Nikolais is it.
- Ah, good. - I don't want to raise false hopes,...
..but he's working on an experimental protocol based on a diet.
Wonderful.
(Lorenzo breathes with difficulty)
Peanut butter, red meat, cheese...
Unpeeled fruit, spinach, olive oil... But these are healthy foods.
Yes, but they contain very long- chain saturated fats.
I...
I still do not understand why they are so harmful to Lorenzo.
- Why are they so destructive? - How can spinach make the difference?
The human body needs these fats in order to create cells,...
..and the excess is burned off. That's normally, of course.
But in the case of an ALD boy, these saturates can't be broken down...
..and they build up in the brain.
And somehow this build-up strips the myelin covering.
Yes, exactly. And, for the moment, we don't know why this is.
But we feel that, by withdrawing the saturated fats from the diet,...
..we will prevent them accumulating in the brain.
And if we could?
There's no way to reverse neurological damage.
All we can hope for is to slow the cascade of symptoms.
But if it's any consolation to you, you'll be helping us...
..understand the biochemistry of this heartless disease.
So, can we enrol Lorenzo in our trial?
I suppose so.
Good. Then I will pass you over to our dietician...
..and meanwhile we should arrange some genetic counselling.
Oh, Dr Nikolais, it's highly unlikely that we will have another child.
No, but your sisters and their daughters may all be carriers.
- We need to test them. - Only my family? What about his?
No, no. ALD is passed only through the mother.
But I thought you understood all this.
We knew it was inborn, but...
..we assumed that meant a combination of our genes.
That's true in other inherited diseases,...
..but ALD is only carried on the female chromosome.
Excuse me.
Are you saying that Lorenzo got this directly from me?
Well, in the sense that ALD is sex-linked, yes.
It goes from mother to son.
- And how did I get it? - The woman gets it from her mother.
And if I inherited the defect, why don't I have the disease?
No, the woman is only the carrier, nothing else.
But with each conception, she has a 50- 50 chance of passing on the defect.
And when that happens...
It's the cruellest kind of genetic lottery.
- Lottery? - Yes, a clumsy word.
I use it because it's... so arbitrary, you know.
- No one is to blame. - Um...
If Michaela's mother had this,...
..and her mother's mother,...
..why was there no warning?
Well, I suppose if you went back into the family tree, you'd...
But remember, a short time ago this disease didn't even have a name.
Mrs Odone, you have enough to put up with without...
You have nothing to blame yourself for.
Thank you.
(Deirdre) It's not a good idea.
All right, so she doesn't want me. What about Mother? She's packed and ready.
Kenise, Michaela doesn't want anybody around.
What about Father Killian? He can come.
Hell, no. She's not even going to Mass now.
- Deirdre, what is happening there? - Just let it rest, OK?
No. What will they do for Lorenzo's birthday?
- I'll call you. Bye. - No. Deirdre!
This is wrong. More than ever she needs her family here.
She doesn't want nobody. She's too angry.
We cannot afford the time to be angry.
Come on, look what she's dealing with.
She does not have to deal with it alone.
She feels incredibly alone and unlucky, like she's been singled out by God.
- Oh, Deirdre! - Yes! Kenise is a carrier with two girls.
Me, a carrier with no kids at all, and Mariah has a boy but she's not a carrier.
So only Michaela gets this laid on her.
- This did not happen only to Michaela. - Sure. You got two kids already, Odone.
Mommy will make you something better:
..a big-boy fruit treat with five different colours.
She waited all this time to have one child. She's not gonna have another.
May 29th 1984
Lorenzo's Sixth Birthday
(knock on door)
Francesco! Cristina!
- Ah, buongiorno. - Oh, Francesco!
(in Italian) Mother sends her regards.
(in Italian) This is for Lorenzo. We missed you so much.
Francesco and I couldn't wait to see you again.
Papa, how is Lorenzo?
(in Italian) Today he's OK. Thank God.
Now listen... Michaela is in a lot of pain.
She may be cold towards you.
(in Italian) Look at the two of you. More handsome each time I see you.
- Cristina. - Michaela.
- How are you? - I'm fine.
Ciao.
Fancy coming all this way for our Lorenzo. Thank you.
- It's lovely to be here. - Come with me.
- How is everything? - Fine.
It's lovely here.
Everyone, this is Lorenzo's sister and brother, all the way from Rome.
This does not make sense.
Lorenzo's saturated fats have risen.
We eliminate them from his diet, and in his blood they increase.
If these very long-chain saturated fats are destroying his mind,...
..then surely we should take him off the diet.
(Nikolais) Mr Odone, please be patient.
Your son has been on the diet only six weeks. Wait until the end of the trial.
Dr Nikolais, what about the other boys? What results are you seeing in them?
As with Lorenzo, it's too early to tell.
We need the study to run for the full six months.
That will tell you what is obvious right now,...
..that avoiding apple skins and pizza has no effect on this brutal disease.
Now, please, Doctor, is there anyone out there who is chasing a definitive therapy?
You judge us too hastily. The French have tried bone-marrow transplants,...
..and in Boston we're about to try immunosuppression.
- Why haven't we heard of these before? - The transplants were disastrous...
..and the immunosuppression is highly experimental.
The protocol has been limited to six boys,...
..all more profoundly afflicted than your son.
For God's sake! How afflicted does he need to be?
It's a school, Lorenzo, like any other school.
- And it's full of doctors? - Yes. Some of the cleverest in America.
- What colour is that cross? - Red.
That's right. It's red.
I'll speak to your parents for a second. Leah's gonna take your blood pressure.
I'll be right back.
(Leah) I'll just put this around your arm.
You've had this done before, haven't you?
Look, it's important you both know exactly what's going on.
Cyclophosphides are no picnic. This is chemotherapy.
We're gonna be suppressing his immune system. It's very high-risk.
We'll need to keep him here at least three weeks.
Now, Lorenzo is still walking, talking and communicating.
But that could all change.
Now, knowing all this, do you still want us to go ahead with it?
Given the alternatives, yes.
One Month Later
The faculty is very grateful to Lorenzo for doing this.
Ladies and gentlemen, this is Lorenzo Odone, whom I've spoken to you about.
Now, young Mr Odone, you need to come with me.
You are getting so big!
Now, I'm gonna put you up here so we can all see you, OK?
Attaboy.
Ten weeks after diagnosis we observe hemianopia...
..with transient horizontal nystagmus.
The pupillary light reflexes are still intact,...
..and, as yet, there's no optic atrophy.
However, there is evidence of early occipital- lobe involvement.
(drawn-out) Why are all these people here?
- I beg your pardon, Lorenzo? - Why are all these people here?
He asks why all these people are here.
Well, they're all doctors...
..and they want to learn how to help other boys in the future.
Other boys with the boo-boo?
- Yes, darling. - Mm-hm.
Thank you, Lorenzo.
Now, in the scanning speech, we look for both ends of the pathology:
..centrally for the dysphasia, and peripherally for the dysarthria.
Now, Lorenzo, would you walk for me, please?
Attaboy.
That's right. Hold my hands.
That's right.
Two months ago there was simply motor lag. Now note the characteristic gait.
It's due mostly to hyperreflexia, but exacerbated by the encroaching paresis.
You're doing very well. Keep coming.
Only if you stop talking like that.
Hello, Mr Odone. Have I got that right?
- (on phone) Odo-ne. - Odo-ne? I'm sorry.
Ellard Muscatine. I'm with the ALD Foundation.
We heard about your boy Lorenzo, and we'd like to offer you some help.
You're a doctor?
Doctor? Heck, no. I'm a machinist from Allequippa, PA, but I'm an ALD parent.
This is my second time around, so I know exactly what you're going through.
My wife Loretta and I, we run the foundation.
We organise counselling, conduct seminars, fund research.
We have 500 member families, not only American,...
..but from Portugal, Israel, Japan, Australia...
And we're growing all the time.
We wanted you and Mrs Odone to know that you're not alone.
ALD FAMILY CONFERENCE July 1984
Hi. Ellard Muscatine. Welcome to the conference.
- Augusto Odone. - Michaela.
Oh, very nice to meet you. Please come in.
This is my wife Loretta, and these are the Odones.
Great. I'm so happy you were able to come.
Because I think a lot of it is denial.
We don't want to say anything's going on. We're strong and we can handle it.
But this is the place and this is the time to let it all out,...
..let the barriers come down...
..and to share your feelings and get it off your chest.
It's hard to believe that things can get worse.
But they will.
One thing nobody wants to talk about is what happens,...
..or does not happen, between the two of you in the bedroom.
A whole year we couldn't touch each other.
My husband stood by me all the way but, oh my, does it test the men!
- And the weak ones just up and go. - Even the strong ones leave.
My guy hung in there when our first boy took sick. Then we had little Jake tested.
Arlen wanted a whole bunch of boys, a whole ball team.
He's gonna have 'em too... with some other gal.
(Loretta) We'd like to thank the parents...
..who gave so generously to the fund for the immunosuppression trial.
The doctors have said that this experiment contributed greatly...
..to the understanding of ALD.
Betty and Tom Knowles, $250 in memory of Corey.
Dr and Mrs Liebowitz, $500 in memory of Joel.
Mr and Mrs Higgins, $1,000 in memory of Adrian and Julian.
26 people have sent in recipes for the newsletter.
Now, we still need ideas for snack foods and breakfast treats.
Remember, all recipes should be low-fat...
..and use only the foods allowed on the institute diet.
- Excuse me. - Yes, ma'am?
Our son has complied with this diet,...
..but his levels of saturated C24 and C26 have risen for two months in a row.
That's exactly what's happened to Jaybird.
Ah, well, perhaps before we talk about publishing cookbooks,...
..we should ask ourselves if the diet is working at all.
- Shouldn't we? - Damn right we should.
This is not the way we do things here.
But there are two families here with this paradox. Maybe there are more.
Shouldn't we open it for discussion?
- My boy's levels are rising. - Now there are three families.
So maybe we should... Could we have a show of hands?
Then we'll see how many families there are.
You don't understand. This is a formal pilot study. It has to run for six months.
We're not scientists. We don't interpret experiments.
That's the solemn responsibility of the doctors.
Come on, Ellard! Let's have a show of hands.
No, that would be misleading.
The medical folks call this kind of evidence anecdotal.
- What's wrong with a show of hands? - It wouldn't have any meaning.
- Excuse me. May I say something? - Sure.
The only way that the doctors can get useful results is with a strict protocol...
..and statistical samples in a control group.
And a proper time frame. Doctors have to be careful.
Clinical trials must withstand a tremendous amount of scrutiny.
This is the way that medical science works.
That's the only way the scientists can get the information they need.
So what you're saying is that our children are in the service of medical science.
How foolish of me. I always assumed...
..that medical science was in the service of the sufferers.
Yes. Uh, thank you.
Uh, now I think it's time we get back to our agenda.
Why? So we can discuss further salvaging our marriages and managing our grief?
What about the children? No one here is discussing the children.
Thank you.
Now if Mary has nothing further to add, I would like to introduce Dr Chapel...
..to talk about the nasogastric tube and suction machine.
Would you all join me in giving him a very warm welcome?
(applause)
Thank you, Madam President. Thank you, Ellard. Ladies and gentlemen...
August 1984
(# classical music)
- (Lorenzo) Now hold my hand. - Yes, sweetie.
- Now the story. - What story is that, sweetheart?
La notte di San Lorenzo.
San Lorenzo, who is...?
(drawls) My patron saint.
And saint of my father's village.
That's right. And what happened to him?
He was in Rome.
Mm-hm.
And... I forgot.
Well, many years ago...
..the bad guy says to him "Bring us the riches of your church."
And Lorenzo, he brings them the beggars and the sick people...
- ..and he says... - (drawls) "These are our riches."
Yes!
- Bravo, Lorenzo, bravo. - That's wonderful, sweetheart. So clever.
And tonight, August 10th, is...
La notte di San Lorenzo.
(Michaela) The night of the shooting stars.
(Augusto) When anything can happen.
Micha...
Sh, sh, sh.
When we first went to the Comoros, what did we do?
- We got to know the country, right? - Yes.
We studied. We got to know the language, resources, its laws.
We studied, right?
We should treat Lorenzo's illness like another country.
- I don't quite see the analogy. - All right, all right.
- ALD has many dimensions, right? - Yes.
So in order to understand it, we need a command of genetics, biochemistry,...
..microbiology, neurology, ology-ology...
Augusto, we don't have time to go to medical school.
Michaela, the doctors are in the dark. They're groping in the dark.
They've got Lorenzo on a turvy-topsy diet.
And that bloody immunosuppression is brutal and useless.
Michaela, we should not have consigned him blindly into their hands.
He should not suffer by our ignorance.
We take responsibility. So... we read a little.
And we go out and inform ourselves.
But... to miss time with him while he can still speak to us...
Yes, I know, I know. But he expects it of us.
THE NATIONAL INSTITUTES OF HEALTH Bethesda
September 1984 Five Months After Diagnosis
I want to take Lorenzo off the diet.
He's been eating cardboard for 19 weeks, and what's it getting us?
- And feed him what? - Normal foods. Things a child likes.
Full of the long-chain fats that we know destroy his myelin?
Look. On the diet, his blood fats are still rising.
- Yes, I know, Michaela. - It doesn't make any sense.
But we don't know enough. We don't know enough.
We don't know it clearly enough.
Here, Michaela, let me show you something.
All right, here.
Un piccolo acquaio.
- A kitchen sink? - Yes, yes. Little kitchen sink.
All right. Now here is the tap. Mm-hm?
And here's the sink basin and the plughole, right?
All right. Very long-chain saturated fats are introduced by what we eat, right?
- Yes? - Now, also produced by the body...
..or manufactured by the body, these very same fats.
- Biosynthesis. - Biosynthesis, right.
Now, normally they are not harmful...
..because this enzyme eliminate the excess, right?
But in Lorenzo, this enzyme is defective from genetics.
His plughole is blocked, right?
Yes.
We know that very long-chain saturated fats are made up of carbon atoms.
C2, 4, 6, 8... all the way up the chain, right?
But in Lorenzo, the saturated C24 and C26...
..rise to four times the normal level.
OK, now, here's where we have a little paradox, a mystery, OK?
Why, when we reduce the dietary intake of saturated fats,...
..does the level in our sink, which we would expect to go down, go up?
So, logically, we should take him off the diet.
Well, Michaela,...
..just as logically, we should not.
Because let's not do what the doctors did.
Let's not act without knowing why.
Why, when we turn off this tap, does the level in our sink rise?
I married a plumber.
You married a man with a simple mind, who asks simple questions, that's all.
Here, Michaela. Brain food.
- Come on. - Oh. Thank you.
October 1984
Polish rats! I think I have an explanation for the paradox.
Lorenzo, kiss your clever mother.
Polish rats with a fatty-acid storage disease. Let me use your kitchen sink.
Here's our tap for what we eat.
And here's our tap for biosynthesis.
I see. Biosynthesis. Mm-hm.
When the rats were deprived of a specific fat in their diet,...
..their body cells compensated by overproducing it.
- So if this holds true for humans... - Then the diet is useless...
..unless we can stop it overproducing, slow down biosynthesis, s ì?
Yes, and there's more. And for this, I deserve two kisses, my darling.
In the summary, it talks about the concept of fatty-acid manipulation.
- What's that? - Well,...
..they stop the rats producing one kind of fat...
..by loading their diet with another kind.
So maybe we could stop Lorenzo's body from producing C24 and C26...
..by loading his diet with another kind of fat, one that's less harmful.
We should have this translated as soon as possible.
I have some news too.
It's a letter from Omouri.
He wouldn't open it until you got home.
- Omouri. - Yes.
Michaela, by tomorrow morning,...
..your Polish rats will be speaking to us in English. Hm?
(Michaela) I've been thinking.
I found that article by accident. I just as easily could have missed it.
It was written by a Polish biochemist, who I'm sure knew nothing about ALD.
Well, Michaela, still it gives us a new line of inquiry.
Yes, but it could take months.
And there will be other leads that take more time, and it's time we don't have.
All these experts, working in isolation, each one on his own piece of the jigsaw.
Of course, a symposium is the best way to accelerate the exchange of information.
In that sense, it's a very good idea, Mr Odone.
Only... May I say something?
Have you any idea how many children in the United States die every year...
..from choking on French fries?
Many more than from adrenoleukodystrophy.
Ours is what is known as an orphan disease.
It's too small to be noticed, too small to be funded,...
..especially with the iron hand of Reaganomics.
So while, as I say, this remains a very good idea, it's a luxury we can't afford.
Well, we appreciate that, so we have prepared a budget...
..based on 40 participants for two days.
We think it can be done for $35,000. My wife and I will raise the money.
- We can't ask you to bear the cost. - Oh, no, no, no, no.
That's the least of our concern.
And of course, your institute will not be at risk...
..because the Odones will underwrite any shortfall.
And we took the liberty of drafting an invitation list.
Forgive me, Dr Nikolais. We wish to make two conditions.
We would like the symposium to emphasise therapy,...
..and Michaela and myself would like to participate in the discussion.
Martha, I'm afraid we'll have to add to your workload,...
..but it's in a very good cause.
We've decided to convene the first symposium on ALD.
We should notify the Muscatines.
Of course. The foundation could help with the arrangement.
They could even, perhaps... find some funds.
How about we hook it to the back of the next Foundation Family Conference?
- (Michaela) When would that be? - Next summer. 4th of July.
- That's nine months away! - It will take us all that time...
..to invite those busy doctors and raise the money.
- I don't think so. - What's your time frame, Mrs Odone?
- Five weeks from now. November 10th. - That's not possible.
Oh, I think it is.
Pardon me, but what is the point of rushing?
As ALD parents, we both know the answer to that inane question.
If you want this to happen, you're going about it the wrong way.
- At least we are going about it. - (Lorenzo drawls)
- Sorry, I don't understand. - He wants his diaper changed.
- (dialling tone) - Mrs Muscatine, look... Hello?
Hello?
They should be hung by their eyelashes.
- They won't help? - It doesn't look that way.
- Good boy. I'll take him. - No, I got it.
- What'll you do? Mortgage the house? - Not until I have to.
Michaela!
I've spent two months pulling on the heartstrings of Washington...
..to raise money for multiple sclerosis, sudden infant death and cystic fibrosis.
Then why exclude adrenoleukodystrophy?
Because I also cover politics, the arts, women's issues and stuff,...
..and my readership likes to have a little balance.
I cannot do another medical story right now. Maybe in another month.
Joyce, I think you should meet my son.
My friends...
This is so generous.
You know, Augusto, our wives are eager to form a committee...
- ..to, perhaps, help with hospitality. - Oh, wonderful, wonderful.
Not only will we be saving money, but they'll be extremely well fed.
For breakfast, French pastry, correct? Lunch, UN finger food.
- (knock on door) - The British will do afternoon tea.
And for dinner, I know a marvellous Italian cook.
Are you needin' another pair of hands? I'll lick envelopes, serve coffee, whatever.
And this is for your boy. I grow the best organic produce in Virginia.
- Thank you. - You don't remember me!
Wendy Gimble. Foundation Family Conference. I yelled louder than you.
- Yes, of course. You have two boys. - We lost Jaybird, but Jake here is fine.
We think what you're doing is fantastic.
Hello, Jake. Come on in. Thank you.
When I read about what you were doing, I thought "It's time we did something."
- Please, come in and meet the others. - Is that Lorenzo?
Yes. Lorenzo, this is Jake. He's a young man of your age.
Look, Lorenzo, a great big pumpkin. Let's go down and feel how big it is.
(Lorenzo drawls)
- What, sweetheart? - (drawls)
I'm sorry, Lorenzo. Let's try that again.
(drawls, shouting)
This morning I could still understand him.
(man) When we can clone the ALD gene, we can identify the deficient enzyme,...
..mass-produce the gene, implant it into ALD sufferers...
- ..and normalise their metabolism. - (Augusto) How long would that take?
FIRST INTERNATIONAL ALD SYMPOSIUM November 10th 1984
Seven to ten years.
You see, science has its own time,...
..and, very often, any new advance can be a matter of serendipity.
(Nikolais) For the last six months, all our ALD boys have been on a regimen...
..which excludes saturated C24 and 26.
But despite this restriction in the diet,...
..these long-chain fatty acids have remained the same,...
..in some cases even increasing.
Now, this compensating increase I put down to biosynthesis.
But, Gus, if you could maintain the diet...
..and somehow inhibit biosynthesis, you'd have a therapy.
No, you wouldn't quite have a therapy.
You would have a way of lowering the fatty acids to normal.
(speaks Japanese)
If you wish to inhibit biosynthesis,...
..have you considered fatty-acid manipulation?
(speaks Japanese)
There is some literature, a rat study, Russian or Polish.
(Michaela) Polish. Straszak. I have copies right here.
Polish Journal of Biological Sciences 1979, Volume I I.
They loaded the diet with one fat and decreased biosynthesis of another.
Yes, I remember this article.
And also in Canada, they have seen the same thing in miniature swine.
(man) As a matter of fact, I've seen it in human cells.
In human ALD cells.
From patients with ALD, I took fibroblasts - skin cells, OK?
Each one carries the same genetic defect.
I incubated them with oleic acid and reduced the saturated C24 and C26...
- ..by more than 50 per cent. - Excuse me, Doctor.
You said oleic acid?
Yes, monounsaturated C18, the main component of olive oil.
- Surely this is the basis for a therapy. - (man) Slow down.
These are studies in cultured cells. We don't know it'll work in a human being.
Well, then, take the olive oil and try it in a patient and see...
Augusto, olive oil is forbidden in the diet: C24, C26.
Yes, but then use whatever Dr Rizzo fed his fibroblast.
Pure oleic acid would be very toxic to an intact organism, an animal or human.
It would need to be the triglyceride form, which is edible, but that's not available.
All right, can't you take ordinary olive oil and extract the C24 and C26?
You could, but it's a very complicated procedure and would be very expensive,...
..especially to produce the quantities for a clinical trial.
Have you contacted chemical companies?
No one will tool up for that.
Not for an experiment, not for something with no market.
- Then you haven't tried? - No.
If we were able to get triglyceride, then we can change all that, right?
Yes. It has to be triglyceride to be edible.
(Michaela) Edible form. Triglyceride.
(man on phone) No one here can help you.
Then do you know anyone else who does?
I'll send you back to the switchboard.
- (telephonist) Which extension, please? - Research and development.
(woman) R&D.
- I need a triglyceride form of oleic acid. - Your name, Doctor?
- No, I'm not a doctor. - Are you with a company?
No, I am not with any company. I'm the mother of a sick child.
- A mother? - That's right.
- And you want...? - Oleic acid.
- The lines are busy. - I'll wait.
Papa makes you spaghetti al pomodoro,...
..seasoned with basilico, the royal herb for our prince.
Badabib, badabab, badaboom.
Come on, Lorenzo, take a little bit. That's a boy.
(Michaela) The best lead came from the symposium:
..oleic acid in the triglyceride form. Now it's our only hope for Lorenzo.
(woman) Don't fret, Mrs Odone. You will hear from him within the hour.
- You can be sure of it. - Thank you. That's 301...
Don't worry, I have the number.
- Thank you very much. - You're welcome. Bye-bye.
So, as the swallowing reflexes weaken, he's less able to handle his own saliva.
We'll all have to be pretty vigilant. We really have to stay on top of this thing.
If we allow any saliva to get down into his respiratory tract, we block his airway.
- (phone rings) - We don't wanna do that.
Here we go. Put your thumb over the valve.
When you don't want suction, release your thumb.
Hi. It's ProtoChem again. I'll connect you to our Mr Pellerman.
PROTOCHEM LABORATORIES Cleveland
- I believe you want some oleic acid. - Yes, in triglyceride form.
You're lucky. We're testing a glycerol trioleate here as an industrial lubricant.
Industrial? Then... is it fit for human consumption?
I don't see why not. It's a purified olive oil.
Without saturates? Pure monounsaturated C18 in triglyceride form?
- Yes, ma'am. - You're sure?
It happens we have one bottle here, sitting idle on the shelf.
Marvellous! How can we get our hands on it?
- Sorry. Go ahead. - How can we get our hands on it?
This is... beautiful.
- And it's entirely harmless? - Gus, you're talking to an Italian.
- It's only olive oil. - Yes, that's harmless. It's like... sugar.
And yet, to a diabetic, sugar can be lethal.
You see, the trouble is we don't know to what extent Lorenzo can metabolise fats.
Yes, well, Gus, it's been seven months since Lorenzo was diagnosed.
Now he is silent. He's immobile.
Augusto, I am a scientist,...
..and I'm of absolutely no use to you whatever...
..unless I can maintain my ob jectivity.
And I am not a scientist. I am a father.
And nobody can tell me what dressing I put on my kid's salad, OK?
Augusto...
This science of medicine. You know, it's not like physics.
There's no mathematical certainty.
And because we deal with human beings who suffer, it can appear heartless.
I know.
You realise that any collaboration of mine would have to be unofficial?
Sì, s ì, of course. Now, the dose. We think 40 grams a day.
- That's too much. Say 30. - 30?
Yes. Any more than that might damage your son's liver.
Darling, they're about to start.
We're going to send this blood away to establish a baseline, my brave boy.
Because today we all start the fight against the boo-boo.
There. All done.
Lorenzino, this year we celebrate Thanksgiving a little early...
..with a fine barracuda like we used to eat in the Comoros, huh?
And Papa has cooked it with the aromatic dill.
And now...
..we add the special olive oil which Mama found.
Hm? All right?
There we go.
Deirdre.
All right, Lorenzo. Here we go.
November 21st 1984
One Month Later
- There we go. - You did good, buddy boy. Real good.
Your Aunt Deirdre means "well", darling. In this house, we cherish our adverbs.
I expect you to do the same when you get your voice back.
(phone rings)
- Hello? - Mrs Odone, this is Dr Nikolais's office.
I have Lorenzo's results. There's been a small drop in the saturated C24 and 26.
- About 15 per cent. - 15 per cent?
Dr Nikolais said not to get carried away. It could be a spontaneous variation.
- Am I allowed a tiny squeak of joy? - We'll know more next month.
Thank you.
(choking)
Michaela!
(Lorenzo gasps for breath)
Augusto! Get something to hold down his tongue!
- (Lorenzo wails) - Oh, my baby!
So, this is a kind of seizure, like epilepsy?
No, not a seizure. It's a paroxysm. It's triggered by saliva in the windpipe.
- But we suction him. - Regularly.
I know, but even so, some saliva gets caught in the trachea.
In any other child, a cough would get rid of it.
In Lorenzo, it becomes a scrambled chain of reflexes...
..that amplifies into what you have just seen.
If this happens again, what can we do about it?
Just help him try to ride it out.
We're all flying blind here, folks. The best I can offer is sedation.
But if it's not epilepsy, then he's aware of what's happening while it's going on?
Well, it's possible.
And if he has another episode, we could talk him through it.
It's possible, Michaela.
It's possible.
- Sì, s ì. A 50 per cent drop, right? - That's correct.
Thank you very much. Thank you!
Fantastico! Fantastico!
January 1985
I very well understand that we are not scientists, but we have observed this...
(Nikolais) Let us do it our way, Augusto. Trust us.
- I've got to go. - OK. Thank you.
Goodbye.
- Nikolais says it's very interesting. - Interesting? A 50 per cent drop?
But it's too early to draw a conclusion. Rizzo might consider a trial.
And he asked us not to tell the other parents.
- What?! - It's immoral. Something finally...
- The parents have to know. - We'll tell them. They can judge.
- The foundation has a mailing list. - We'll call the Muscatines.
I can eat crow in the name of a good cause.
Michaela...
Mm! Delicious! That was worth driving 300 miles for.
- Now, my friends... dessert. - Here, let me move this.
And Loretta... a little science, hm?
Thank you.
"Dear ALD parents..."
- You want us to send this out? - Yes. We'll pay for copying and postage.
But you're advocating a therapy.
No, we're merely reporting a positive advancement in the diet.
It would be wrong to keep it from the other parents.
Mrs Odone, we have an advisory board of eminent doctors...
..and we take our guidance from them.
They are the ones with the medical degrees.
Yes, my dear, but Nikolais already knows about this...
- ..and the wretched man does nothing. - Because he is a responsible scientist.
- No, because he has another agenda. - All right, Michaela. Calmati, calmati.
You know, Loretta, sometimes...
..the interest of the scientists is not the same as the interest of the parents.
Scientists are human and sometimes they can be wrong.
As president of the foundation, you represent us, the families.
And you serve the families best by informing them.
And all we ask is that you please send this letter to them, that's all.
Our parents suffer enough without being made the victims of false hopes.
We can't give credence to every jerk with a pocketful of apricot seeds.
Excuse me, this is not Laetrile. We're talking about an extract of olive oil,...
..an idea that was put forth by the scientists at the symposium.
And it works in Lorenzo.
It works in an ALD boy to a degree that is significant.
- Very significant. - Other parents have a right to know.
We know that this is a deadly disease, so they have a right to choice.
And if they feel as we do, they can put pressure on the doctors.
Because, as parents, we should challenge these guys. We push them.
Unless someone is willing to question, to provoke, how would there be progress?
Well, we feel there is progress.
Loretta, we know that, but all we say is start a dialectic with the doctors.
Are you telling us what to do?
We're asking you to disseminate information.
You gonna teach the doctors? Where we come from, that's arrogance.
- Arrogance! - Yes.
It is... arrogance.
It comes from the Latin word... arrogare.
You know it? You know the root? What it means?
It means to claim for oneself.
That's the root. It means to claim for oneself.
And I claim the right to fight for my kid's life.
And no doctor, no researcher, no bloody foundation, has the right to stop me...
..from asking questions which might help me save him!