Orly Shani’s Story

The white trail slivered the blue skies just like the dollar exchange rate line, pointing upwards and downwards in great festivity. The skies turned deep, potent blue. What a glorious day to slide down the clean unsullied slopes. The sight was glamorous and perfect. The heart filled with that pure stunning magical primordial beauty.

In just a minute, I will fly out over these endless slopes of pristine, early morning snow, and the heart overflows with joy. Oh! Life is so beautiful.

That morning, on that mountain, started wonderfully. So whirling by the cold and the intensity of the pure air. The lungs filled with delight, and the soft wiz of the slides whisper by my ears.

I start to feel a sort of weakness in my legs, but I take no great heed of it. This is the first time I skied in months. But the legs are not responding as they used to. They lack that joy and excitement. A kind of a lousy weakness suggesting that I should just hold on till midday. We will not go skiing again today.

I start gliding down the slopes, leaning to the side annoyingly. Just don’t fall. Finally, a plateau. Come on! Speed up.

I lie flat on my back, hearing scared voices around. I want to say that everything is OK, but I cannot speak. Here comes the stretcher. I am being lifted on it.

Then my voice comes back: Hey! Is everything OK? What happened? “You fell and hit your head. You lost consciousness and we are on the way to the hospital.

An Austrian hospital. White coats speaking wrestles German. I am being rolled into a CT scanner. Brain concussion is ruled out. I am left for 24 hours for observation. I cannot even walk to the restroom. My legs fail to carry me. I hold on to the walls. “Don’t fall Orly. Just do not fall”.

The next day we’re out! I cling to my friends who came to drive me away. I’m unstable. Waddling like a duck. I fly back home. Great! It should pass in a few days.

A funeral of a dear friend’s mom. Limping along the procession. Among them, is Professor Gabi Barrabash: “Orly, why are you walking this way?” – “Oh nothing, just a skiing accident, it will be fine soon.” “Orly, dear! This has nothing to do with the accident. This is something neurological” – he diagnoses.

Amazing Barrabash. “Sunday morning you report to Professor Nir Giladi, the head of Neurology in Ichilov hospital.

Giladi, a charming man. Uri, my eternal youth champion, cannot believe that my legs aren’t capable of lifting me up from a sitting position to standing up. As I have such a strong pair of legs! High Jumping School champ, after all!
Professor Giladi expression was grave.

Convinced that the problem is neurological. I am being sent to about 50 examinations, and Uncle google lists all the suspicions for each examination: SMA Tumor, ALS, and loads of degenerative diseases. Brain stem, Spine fluid, Neural conduction.

After a year-long of examinations, the kind eyes of Professor Giladi guide me “Take all the results and go up to Hadassa Ein Karem hospital to Professor Alexander Lossos”. “Who is he?” I ask “A neurologist” – he replies “But you are a neurologist!” I challenged. “Indeed. However, I heard him giving a lecture on a rare and orphan disease that raised my suspicion.”

We go up to Jerusalem. Are our cool future lives about to change? Nonsense! We are together and this is a strength that can stand against anything!

Professor Lossos examines me with a troubled eye. “I am sending you to test out the suspect enzyme. And if the suspicions will be found true, we will do a genetic scan to validate the existence of the flawed gene. It has a name, my suspicious cute disease. APBD. Just 4 letters that may become my escort from now on to any place I go.

In the corridors of the hospitals you can see angels walking around. I come across a wingless one but enveloped in light. His name, to no surprise, is Dr. Or Kachlon (Or in Hebrew means light) a researcher, not a physician. He skillfully draws my blood and informs me that the results will arrive only within two months that seems to have passed quite rapidly. And indeed, the enzyme that is supposed to decompose the GBE1 glycogen is extremely weak. Less than 10% of the required potency.

As a result of this lame decomposition there are residues left of unbrakeable substance that through the years sinks in the neuro-cells and kills them in a nasty, slow but stubborn process.

From here on to the genetical scan where I meet another angle, Dr. Vardiella.
Lionel Messi is our number one idol. Because the joy of soccer flow in my veins. Messi, the one my fabulous grandchild, Roee’kie, dream champion, loved grandma over there in Rosario, Argentine. She was the one who bought him his first soccer ball and ever since then, every goal he scores is dedicated to her up there in heaven.

And just like my “red” son-in-law she is a Liverpool fan and she whispers in my ear:”You’ll never walk alone”. I embraced that, together with the flock of angles that surrounds me which never becomes weary, despaired. Clinging. Strong and exciting.
And I never waddle alone.

And the results arrived. Bingo!!! I officially have APBD. A Jewish, Ashkenazi, hereditary disease which is rare, orphan and cureless. But hey. There are also sparks of joy. It is not going to kill me. I’m staying! With my loved ones. My friends and my beautiful, marvelous cherished life. There is no need for goodbyes. What a bliss! Because that which does not kill me, challenges me. I am forged by the making.

Sitting in the room of professor Lossos to hear the verdict. Indeed, a fully acclaimed patient. I hear him talk about that eerie ancestor from one of the shtetels that spread his messed-up gene, which both of my parents happen to carry as this disease is recessive and needs two for this tango in order to win that messed-up gene.

Lossos, compassionately explains that the process is progressive and that it will worsen in time, until that day where I will sit down in a wheelchair to never get up from it again. He continues to explain that there are various aids that keep on being developed that will make my life easier. But a cure?! None. I and Uri state in confidence fitting novices that there is no such thing. And we will turn the world up-side down and fine a cure. This gene, that goes by name of y329, doesn’t know with whom he is messing around!

First, I am grateful to Lossos and Giladi for the fast diagnosis. The uncertainty in a lack of diagnosis is a walking nightmare of a series of terrible fowl diseases soaked in agony and fear. The un-diagnosed one feels with great certainty that she is inflicted by all of them.

Lossos also whispers on my ear that there is an American organization for people having this disease. Around 80 of them. I ask him to get in touch and reach the ones in Israel. All of them respond with excitement.

In Israel we are 11 active patients, that are connected, belong, brothers to one another. We operate within an association that we founded. We have a WhatsApp account and we opened a bank account.
We are on the outset of receiving a cure that will bring us back to the dance floor.

As we step out of the meeting I turn to Jeff Levinson, I did say “Ashkenazi”, who CEO’s the association in New York and I schedule a meeting with him in New York. And simultaneously I track down the emails of all the heads of research in the largest pharmaceutical companies in the world.

I sent them a detailed email with all the illness symptoms, and if they are aware of any drug that may strengthen the enzyme or alternatively decompose the polygalicogan. Each and every last one of them replies, and so quickly – What an amazing world we have!

They reply but with no salvation: “We are but a few and there is no financial justification to develop a drug”. I turn to Moshe Yanay, Chairman for Protalix, an Israeli company that developed an aid for the Gaucher disease, where the ones carrying it have a malfunctioning enzyme that fails to break down their fats which leads to their liver and spleen to grow massively.

The company developed a replacement enzyme, and by having by-weekly infusions, the patients, with their livers and spleens walk out brand new.

Yanay turns me to the head researcher, who is familiar with my disease but also with its rarity, and informs me that there is chance, economically, to promote the development of my replacement enzyme.

There are about 3000 enzymes in our body. So far only 7 replacement enzymes have been developed. And I have no idea why!!! Why there are sperm banks and even Stool banks, but an enzyme bank that would cure many patients, is nowhere to be found. The International Health Organization must take it upon itself and for the sake of thousands, if not millions of patients inflicted by various, odd enzyme deficiencies, that cannot see any light in the end of their tunnel and are counting their remaining days.

In the next mission, of funding a cure, I join Or, the amazing super-researcher. Embrace us and we will together march towards a solution! We go together to a meeting I initiated with the deputy of the Israeli health minister Litsman. Sympathetic, empathetic, but unable to help. The total health budget for the research and development for the entire state of Israel is barely 100 million. “From whence cometh my help” – Together with Or we meet a dear friend, Minister of Science.

Bingo! There is a budget set for researching rare and orphan diseases. We file a proper request for research grant at the Hebrew University. Yeah! Looking for existing medications that may work for us and by that we can obviate the need for a clinical research. The hope rises.

At the same time, I am in New York, in a conference my partner and I organize. I invite my dear friend Malcolm Hoenlein, the head of the Conference of Presidents of Major American Jewish Organizations.

“Hey Malcolm, why not found a fund by the aid of the Jewish people to cure the Jewish, genetical rare and orphan diseases!?” After all, the people of Israel are responsible for one another and he who saves one soul as if saves the entire word. And with such research maybe all the other rare uncurable diseases will be solved.

According to Mount Sinai hospital in New York, there are 251 Jewish, genetical rare and orphan diseases! Malcolm pitches a few ideas and I suggest recruiting our amazing president who joins every important mission that benefits the Jewish people and the entire humanity.

I have no doubt in my heart that also the prime minister will jump in! Another important Idea that we will return to in the near future.

In the meantime, Or arranges me to meet yet another full-winged angel, armed with a superman’s cape: Professor Pablo Escriba. It is for people like him that our world is so wonderful and exciting.

From the Palma de Mallorca University he concocted together with the remarkable Or Kachlon a new magic in the form of a food supplement called TGM5 that was approved by the European authorities that strengthen my feeble enzyme by 20%.

I fly out with Uri to Palma, one of many flights, to bring with me that sweetest of sweet, the miraculous potion that Uri, my personal pharmacist, encapsulates. And Presto! I already feel a bit stronger, still not healthy but the deterioration is at a halt.

I share the news with my brothers in illness, back in Israel, and across the ocean the price and self-production deters them a bit. I am the only heavy user and all my feelings and struggle are completely subjective. True. Also, Uri thinks that the deterioration has somewhat stopped and notices even a slight improvement. Moving on.

Over there, in faraway America, leaves a president, regarded as not being the sharpest tool in the shed, and surprisingly he is the one passing a legislation that whomever seeks for a grant from the US government for medical research and gets it, that person would commit to allocating 5% of the grant funds to research a rare and orphan disease. So dear researcher, would you be so kind as to choose a disease that you wish to work on and dedicate that portion of the grant.

I hook up with 5 researcher that chose my disease as a catalyst for receiving the grant. One from Columbia University, another from Duke, a third from Pennsylvania, the fourth from the Baylor institute in Texas and the last from the academic hospital in Miami.

One researcher explores correcting the gene, the other tries to strengthen the enzyme, the third follows the polygalicogan decomposition, yes that bad staff mean stuff that kills my cells.

Another just tries a special diet and I fly out to meet them all in New York. Fascinating! Not everyone knows the others but from now on we are adventure bodies. I donate a piece of skin from my armpit for the benefit of a new study.

I find out that the researcher from Columbia Orchan Akman created families of mice that carry the disease and runs various experiments, during which, and together with the arc-angle Or, found a substance known to pharma named Guaiacol that is made from the stem of a South American tree and has been helping for more than 300 years to prevent phlegm in cough medicine, also helps in decomposing that nasty polygalicogan. Not in the limbs but in the liver and bladder.

Something Finally! The Guaiacol is an available substance in the market, diluted in olive oil, Uri, the pharmacist, encapsulates it and I swallow.

And once again a slight improvement and a recess! I am thrilled. This is the only show in town. Reaching from zilch to swallowing two delicacies, Hey girl! You are on the right track.

A mid-way summary before we continue.

The manual guide for the one inflicted by a rare and orphan disease, Orly style:

1. Track and unite with other patients, even if you are just two you still stronger than one! It strengthens, it comforts. It is a critical channel of communication. That sharing of problems and symptoms in this endless journey for a solution is so vital. Setup a WhatsApp group and keep a daily routine of communication. This is important!!

2. “Make for yourself a rabbi!” – Get yourself a guide. Hook up to a researcher who knows your disease and in its scientific form. A person exposed to the recent world-wide studies, that talks the researchers’ talk, and academic angel, desiring to connect scientifically, emotionally and humanly. Without such one no progress can be made.

3. Knock on every door. Researchers, doctors, organizations, associations, so everyone knows who you are. So they will know that disease has a postal code, someone fighting for it. Never be passive, always be exposed.

4. Workout. Get that oxygen circulating and reaching your cells/ Even if it is hard. Even if it is just a little. That bit will help preserving what is needed until the sought-after solution is reached. Never give up.

5. Be relevant. Keep working, even volunteer. Meet as many people as you can. The interaction is crucial. As a patient keep being part of that human fabric and spread information for the sake of other unknown patients. You can never know what that John doe next to you knows. Do not get off that conveyer belt. Go out, have fun, get excited. Be happy and celebrate your loved ones. Keep being optimistic, strongly embrace the hope.

6. Eat healthy! Your body does not need that extra poison. It has enough. I fast from 8 PM to the 10 AM the day after and I add one whole day of fasting from one evening to the next. You have no idea how cleansing and healing this is. It feels you up with energy.

7. Know the disease. It is a part of you for quite a while. But never forget who you are. You are not the disease. You are the hopes, the dreams, the passion, the love, the will, the affection, the cravings, the memory and yes also the anger, stubbornness and mainly the faith. Did I mention hope? Do not forget Hope! It is such an important companion to the exhausting yet amazing journey of ours.

8. Do not hide your disease. There is nothing to be ashamed of. You haven’t done anything wrong. You will be surprised to learn how much people are considerate, allow them to help you, even by just a little. They get to feel better because of you even by just a tiny help. Do not prevent it from them.

9. Believe! Believe in yourself, in science, in technology, in men. Believe that a cure will be found. The world needs believers. And we, the patients, are the spearhead of this vital faith, that contains, share, unite. Try to believe truly and deeply, in all levels and just as lip service.

10. The togetherness, empower and create the together. Spouse, family, friends. Loved ones are your perfect partners. They are the force and power. The are you angels. They are there in your ups and downs., they are the engine with which you will reach your goal in one piece.

OK! Enough with the sentimentality. On with the research.

An amazing professor resides in the life science faculty of the Tel Aviv University, at the Blavatnic center for drug discovery. He also a tenacious, fierce parent who saved is adorable son from the grips of a tough rare disease.

The name of this next angel in our story is Miguel. He created a special robot in which you insert a tissue carrying the rare, orphan disease from one end, and from the other end, injecting it a huge pool of substances and chemicals and our dear robot works tirelessly around the clock until it finds a compound that fixes the defected cells. WOW!!!

As per the request of our eternal angle, Or, my brother in arms, I excitingly donated a defected tissue of mine, and did all the rest of my mates of our wonderful and secret small fraternity and Presto! A compound, that we shall name here, Compound A, completely fixed the tissue.

How do we proceed? We need inflicted mice to run experiments with this compound. I trust you remember our friend Orchan Akram from Columbia University who rushed to send a family of inflected mice and these have immigrated to our little country, also receiving a “immigration funding” in the form of a grant given by the “Kamin” foundation of the Israeli innovation authority, part of the Ministry of Economics. There you go, life keeps on being awesome.

There is a need to overcome all the hardships of immigration, to pass their quarantine to assure they carry only our disease.

And also, to have them mature as this disease erupts at adulthood. The symptoms appear only after the our unbroken polygalicogan sinks and kills our cells. Remember?!

Well done. You have successfully followed me until this point, and we will soon conclude.

Our mice have matured and started to show difficulty in movement and walking. Miguel marks them and divides them to groups: Treated and not treated. He splits the treated group to males and females and starts injecting them that compound we found. Unbelievable! After a short while, most of the treated group, even more so the females, start to run, jump and climb.

I keep running and rerunning this video as I was in a dream. They keep on running and dancing and I laugh and cry. Writing and Composing marry Compound Carols. Also, the tests of our Israeli mice are quite reinforcing as there are no severe side effects. Au contraire. The life span of our treated mice matches those of healthy mice.

And in the untreated group we found great sorrow. They are motionless. Hardly moving. My heart breaks. But hey. Do not despair. Remember, the solution is knocking at the door!

OK, how do we proceed? Or explains that the compound is too concentrated, and we must try and dilute it. Hey Orchan, can you send out another rodent family to immigrate to Israel? They arrive and once again that ritual of quarantine and maturation.

And Voila! We inject the diluted substance and once again, just like a magic spell, the potion works! Running, Jumping, Dancing.

We are on the right track We will find a company that will be wiling to produce the compound, move it to a clinical experiment and soon I will be healthy.

What tremendous joy! I may even grow a tail to wiggle it to show everyone how exhilarated I am.

And then I can dedicate fully to the important activity I discovered on my journey:

1. A research foundation for the Jewish people to find cures to the rare orphan diseases.

2. Founding a bank of replacement enzymes for each and every enzyme in our body for the benefit of many patients inflicted by various diseases.

3. Founding in Israel an international center for clinical studies over rare and orphan diseases. We have the knowledge, the medical centers, the researcher and in Israel we are extremely goal oriented. Accelerating bureaucracy, with tons of Hutzpah and most importantly we love winning.

This is not unattainable my fellow brother. It is in our hands! I will be delighted to push forward any idea, mine or yours for our fellow humans wherever they are.

Because they are not alone. Because with this hope we will prevail!