Orphan diseases: dozens of children are saved annually in HADASSAH MEDICAL CENTER

All over the world, orphan diseases have long become a serious problem: scientists have currently registered more than 7,000 rare diseases. Thus, although each disease does not occur so often, together these hereditary diseases constitute a very common phenomenon – about 8% of the world inhabitants, and this is more than 60 million people, are sick with one of the orphan diseases.

If you know firsthand what orphan diseases are, if this trouble befell a child from the family of your relatives or friends, contact the specialists of the Israeli Hadassah medical center: if there is a way to save your child, we will do our best.


If you have any questions for diagnostics and treatment of orphan diseases, please contact Dr. Larisa Amir.
Contact phone: +972 506 171 885 (Viber, WhatsApp)

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Vanya has recovered

In Ukraine, Vanya Volokhatyuk could not be diagnosed for 2 years. At the Hadassah medical center, he was diagnosed with a rare and very dangerous disease — IPEX syndrome. The child was rescued by a successful bone marrow transplantation (BMT).

Left photo: this is how Vanya looked before Professor Polina Stepensky successfully performed BMT at the Hadassah Medical Center.

Right photo: Vanya after BMT with Esther Vinokurov, an employee of our medical department.


For reference:

  • According to various statistics, by 2017, from 1.5 to 5 million patients with rare diseases were registered in Russia.
  • In 2017, 1 billion UAH was allocated in Ukraine for the treatment of orphan diseases, and this amount was almost immediately recognized as insufficient.
  • Thousands of orphan diseases cases have been registered in Belarus; according to the local press statistics, from 6% to 8% of the population suffer from them.

International Day of Rare (Orphan) Diseases

All over the world, this day is celebrated on February 28 (if not a leap year) and February 29 in a leap year. This is very symbolic: the “disappearing” date symbolizes the fact that rare diseases have remained unnoticed for a long time, and many are hiding in the shadows even now. This day received official status at the initiative of the European organization for the rare diseases study (EURORDIS). The main goal of the day is to convey to the general public how serious this problem is and that it requires close attention, both from the citizens themselves and from the state.

The main rescue tool is early diagnostics

Rare genetic diseases in children are very dangerous, and their treatment is the more effective the earlier it begins. However, the doctors of the former CIS countries, as statistics show, do not often manage to diagnose such a disease in a timely manner.

If a child suddenly began to stumble frequently while walking, his vision and hearing were weakened, his stomach was swollen, he did not gain weight, and at the same time doctors found it difficult to diagnose him, then there is a possibility that he is sick with one of the rare genetic diseases.

Hadassah has no equal in the diagnostics of orphan diseases

To detect orphan diseases, the medical center uses the most modern genetic tests, based on which the specialists of the Jerusalem hospital can accurately detect any known gene mutations with prompt applying — at the earliest stage. But that’s not all: Hadassah doctors also manage to replenish the long list of rare diseases.

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So in April 2017, in one of the most prestigious international publications in genetics, the American Journal of Human Genetics, an article appeared on the research results carried out by a group of scientists led by Professor Orli Elpeleg, head of the genetic and metabolic diseases department at the Hadassah Medical Center. The research group was able to describe for the first time a still unknown dangerous genetic disease affecting the nervous system of a child, and to develop methods for its early detection.

Professor Orly Elpeleg

World-class expert in clinical genetics, pediatrician, head of the genetic and metabolic diseases department, the Hadassah Medical Center.

Thanks to Professor Elpeleg’s unmistakable diagnoses, hundreds of children have been saved.

Read the doctor’s CV

Not only rare, but also «hiding»

One of the difficulties in diagnosing some orphan diseases is the great similarity between their symptoms and the symptoms of other pathologies. For example, orphan diseases can be «disguised» as:

  • Cerebral spastic infantile paralysis
  • Early infantile autism
  • Spinal muscular atrophy

And other common diseases.

In this case, the knowledge of an ordinary neurologist, pediatrician or doctor with another specialization is clearly not enough, the child should be examined by an experienced specialist in rare genetic diseases in children. By contacting Hadassah, you will receive a consultation and treatment from leading experts in the field and you can be completely confident in the correct diagnosis and maximum effectiveness of the prescribed therapy.

Treatment of orphan diseases in Israel

The Hadassah Medical Center is a university hospital, the oldest medical institution in Israel, with a powerful scientific and technological base, therefore, orphan diseases are treated here using innovative methods of gene and enzyme replacement therapy, as well as with the help of proven exceptional efficiency stem cell transplantation, in particular — bone marrow transplantation (BMT).

Unique BMT specialists

In some cases, BMT is the only effective treatment for orphan diseases. In the Hadassah medical center, this procedure is carried out by world-known specialists who have no competitors in Israel.

Professor Polina Stepensky

Hematologist with over 19 years of experience, world-class specialist in bone marrow transplantation.

Professor Stepensky has performed about 500 successful BMTs.

Read the doctor’s CV Sign up for a consultation

Letter from parents
From the bottom of our hearts, we thank Professor Polina Stepensky and all the staff of the Hadassah Hospital, who gave my son a chance to live! He was diagnosed with osteopetrosis (marble bone disease). Thank God the bone marrow transplantation was successful! Thanks a lot!
Ekaterina, Russia

Dr. Irina Zaidman

Pediatrician and hematologist with more than 17 years of experience, head of the pediatric BMT department at the Hadassah clinic.

Working in Israel and abroad, she has performed over 400 successful BMTs.

Read more

Read the doctor’s CV Sign up for a consultation

Letter from parents
We were very lucky that it was Dr. Irina Zaydman who treated our daughter. She is a very empathetic, attentive person and an excellent professional. You can always turn to her for help, advice, she knows how to calm, inspire hope. Dr. Irina, you are our salvation! May everything be good in your life!
Olga, Kazakhstan

Charitable foundations help to come to Israel for treatment

МThe international department of the Hadassah Medical Center works in close contact with leading charitable foundations, which have already provided dozens of children with rare diseases with the funds necessary for treatment at the Hadassah Medical Center. We strongly advise all parents who are considering the possibility of bringing their children to Israel for treatment to contact these organizations.

  • Rusfond
  • World Vita
  • CF Alyosha
  • CF Artemka
  • CF Pomogat legko
Do you have any questions?
Please contact us and receive an answer
by phone: +972 2 560-97-99 (24 hours a day) by email: ru-office@hadassah.org.il or by filling out the contact form

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Examples of orphan diseases that are diagnosed and treated at the Hadassah Medical Center

Neoplasms


  • multiple endocrine neoplasia syndrome
  • hemangioma
  • lymphangioma

Diseases of blood, hematopoietic organs and certain disorders involving the immune mechanism


  • hemorrhagic thrombocythemia
  • Imerslund-Grasbeck syndrome
  • Alpha thalassemia
  • Beta thalassemia
  • Delta-beta thalassemia
  • sickle cell anemia
  • hereditary spherocytosis
  • hereditary elliptocytosis
  • hemolytic anemia
  • atypical hemolytic uremic syndrome
  • aplastic anemia
  • Diamond-Blackfen anemia
  • purpura
  • hypergammaglobulinemia
  • IPEX syndrome
  • adenosine deaminase deficiency
  • leukocyte adhesion deficiency
  • reticular dysgenesis
  • Von Willebrand disease
  • pediatric genetic agranulocytosis
  • congenital methemoglobinemia
  • eosinophilia
  • hemophagocytic lymphohistiocytosis
  • Rosai-Dorfman syndrome
  • combined immunodeficiency
  • Wiskott-Aldrich syndrome
  • Nijmagen breakage syndrome
  • Bloom syndrome
  • chronic granulomatous disease (CGD)
  • ICF syndrome: NEMO deficiency syndrome
  • Di George syndrome (velocardiofacial syndrome)
  • Omenn syndrome
  • Chédiak-Higashi syndrome
  • Cartilage-hair hypoplasia

Metabolic diseases and diseases of the endocrine system


  • Prolactinoma in children
  • Cushing’s disease
  • adrenogenital syndrome
  • Laron syndrome
  • congenital hyperinsulinism
  • tyrosinemia
  • «maple syrup» urine disease
  • adrenoleukodystrophy
  • Fanconi syndrome
  • cystinosis
  • Hartnup disease
  • Lowe syndrome
  • glycogenosis
  • galactosemia
  • Gaucher`s disease
  • Fabry disease
  • Niemann-Pick disease
  • cystic fibrosis
  • familial Mediterranean fever
  • aspartylglucosaminuria
  • Wolfram syndrome
  • Farber disease
  • metachromatic leukodystrophy
  • mucopolysaccharidosis type 1 (Hurler-Scheie syndrome)
  • mucopolysaccharidoses III, IV, VI, VII types
  • mucolipidosis
  • alpha-mannosidosis
  • beta-mannosidosis
  • sialidosis
  • galactosialidosis
  • abetalipoproteinemia
  • Lesch-Nihan syndrome
  • Menkes disease («curly hair disease»)
  • porphyria
  • primary juvenile hemochromatosis
  • Alexander diseaseа
  • Krabbe disease
  • Prader-Willi syndrome
  • Schwachman-Diamond syndrome

Diseases of the nervous system


  • Tourette syndrome
  • Hallevorden-Spatz disease
  • Duchenne muscular dystrophy
  • Arnold-Chiari malformation type 1
  • Syringomyelia

Congenital anomalies


  • Goldenhar syndrome
  • Holt-Oram syndrome
  • Laurence-Moon-Biedl syndrome
  • tuberous sclerosis (Bourneville disease)
  • Pierre-Robin syndrome
  • dysplasic dystrophy
  • congenital ichthyosis

Other diseases (diseases of the digestive system, diseases of the circulatory system, etc.)


  • retinal dystrophy
  • pulmonary arterial hypertension
  • hypertrophic cardiomyopathy
  • Timothy syndrome
  • Andersen-Tawil syndrome
  • Jervell and Lange-Nielsen syndrome
  • Griszelli disease
  • partial albinism-immunodeficiency syndrome
  • Wegener’s granulomatosis
  • Churg-Strauss syndrome
  • Behcet’s disease
  • nephrotic syndrome
  • Crohn’s disease
  • Romano-Ward syndrome
  • Kostmann syndrome

Would you like to learn more about rare diseases in children, get a consultation with Professor Polina Stepensky or Dr. Irina Zaidman, ask a question about diagnostics or treatment?

Leave your details, write down a question or request, and our consultants will contact you as soon as possible.

PhD Larisa Amir will be glad to help you.

Contact phone: +972 506 171 885 (Viber, WhatsApp)

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