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NATIONAL MUCOPOLYSACCHARIDOSIS ASSOCIATION

by admin 12/06/2018

Contact Person:
Mrs. Desislava HRISTAKEVA – President

Postal Address:
47 Vladislav Ochkov Street
8800 Sliven
Bulgaria

Mobile Phone:
(+359) 898 688 767

E-mail:
dessy_pavel@mail.bg

Description:
The association was created in June 2007. Its members are patients from all ages, their relatives. It is a member of the National Alliance of People with Rare Diseases. The association is lobbying for the adequate medical treatment of the mucopolysaccharidosis patients and the respect of their rights.

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Last modification: 13:58 12.06.2018
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National Association of Patients with Growth Hormone Deficiency

by admin 12/06/2018

Contact Person:
Mrs. Polina Milusheva-Mandadzhieva

Postal Address:
National Association of Patients with Growth Hormone Deficiency
Izgrev Residential Complex, block 15 A, entr. 2
8000 Burgas
BULGARIA

Hadzhi Dimitar Residential Complex, Bl. 112, Ent. B, Fl. 7, Ap. 44

Poduene, 1510, Sofia,

BULGARIA

Mobile Phone:
(+359) 887 999 928

(+359) 878 317 298

E-mail:
pmilusheva@abv.bg

hiponanizam@abv.bg

Website:

https://i.alle.bg/

Governing Body:

Mrs. Polina MILUSHEVA-MANDADZHIEVA – President

Mrs. Svetla IVANOVA

Mrs. Petya GOSPODINOVA

More about the association:
The work of the association is aimed at supporting the prevention, early detection, diagnosis and treatment of Pituitary Anesthesia and other similar diseases associated with growth hormone disorders as well as disease-related complications, supporting the social rehabilitation of patients suffering from this disease , enhancing the health culture of the population, raising the qualification of medical staff and promoting the novelties in medicine, maintaining information websites, undertaking the actions to protect the rights of patients and any other activity.

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Last modification: 13:45 12.06.2018
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Association Aniridia Bulgaria

by admin 12/06/2018

Contact person:

Elena Tsoneva

Address:

Lyulin Center Residential Complex

31 Arh. Georgi Nenov Street

1324 Sofia,

BULGARIA

Phone:

(+359) 878 554 225

E-mail:

office@aniridiabg.eu

Website:

www.aniridiabg.eu

Governing Body:

Mrs. Elena TSONEVA – President

Mrs. Iva PETROVA

Mrs. Gergana KOSTADINOVA

Mrs. Tanya BALABANOVA

Mrs. Bilyana RUSEVA

Mrs. Yordanka NIKOLOVA

Mr. Ognyan PETKOV

Aims of the Association:
• Protect the rights of people with aniridia
• To support the reunification, promotion and information of people with anaridia and their adaptation to society
• To support the professional development and qualification of researchers and medics in the field of diagnosis, treatment and rehabilitation of anaridia
• To familiarize the public with the specifics of the disease, diagnosis, treatment and rehabilitation of anaridia, as well as its physiological and psychological consequences
• Encourage and support the development of research in Bulgaria and abroad
• To establish contacts with similar organizations in the country and abroad
• To establish contacts and permanent dialogue between the Association and the governing bodies and institutions in the Republic of Bulgaria related to this disease / Ministry of Health, Ministry of Labor and Social Policy, National Health Insurance Fund, Drug Agency, National Labor Expert Medical Commission and others./
• Take measures to overcome the emotional consequences of the disease, as well as professional re-training and social rehabilitation of people with anariria
• To provide means for treatment and support of patients with anaridia in Bulgaria and abroad

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Last modification: 13:29 12.06.2018
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BULGARIAN ASSOCIATION FOR NEUROMUSCULAR DISEASES

by admin 12/06/2018

Contact Person:
Mrs. Violeta ANTONOVA – President

Postal Address:
49 Nedko Voyvoda Str.
1220 Sofia
Bulgaria

Phone:
(+359 2) 936 04 49

Mobile phone:
(+359) 888 240 652

(+359) 899 731 313

(+359) 878 580 590

Fax:
(+359 2) 936 26 88

E-mail:
banmz@abv.bg

Website:

www.banmz.eu

Activities:

Bulgarian Association for Neuromuscular Diseases is a mass, non-political, independent, social and voluntary organisation called upon to respond the needs of people with neuromuscular diseases. It is created in 1991 by patients, patients` relatives, supporters and medical specialists.
It is a member of the European Association of Muscular Dystrophy Associations (EAMDA).

Our main purposes are:
• to protect of the right for normal life;
• to give moral, juridical, health and psychological help to the patients and their families;
• to cooperate for the patients` successful adaptation to the society;
• to better the conditions of life of the patients and their families;
• to cooperate in the medical treatment.

The Association creates contacts and works on common projects with Bulgarian and foreign partners.

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Last modification: 13:02 12.06.2018
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BULGARIAN ASSOCIATION PRADER-WILLI SYNDROME

by admin 12/06/2018

Contact Person:
Mrs. Monika SIMEONOVA – President

Address:

–

Phone:
(+359 2) 480 82 44

Mobile Phone:

+359 897 855 706

E-mail:

simeonova.monika@gmail.com

pws.bulgaria@gmail.com

Governing Body:

Stanimir Tsonov

Radka Tincheva-Yordanova

Katya Oreshtarova-Tihova

Short Description:
PWS is characterized by hyperphagia and food preoccupations, as well as small stature and learning difficulties.
Traditionally, PWS was diagnosed by clinical presentation. Currently, the syndrome is diagnosed through genetic testing; testing is recommended for newborns with pronounced hypotonia (floppiness). Early diagnosis of PWS allows for early intervention as well as the early prescription of growth hormone. Daily recombinant growth hormone (GH) injections are indicated for children with PWS. GH supports linear growth and increased muscle mass, and may lessen food preoccupation and weight gain. The mainstay of diagnosis is genetic testing, specifically DNA-based methylation testing to detect the absence of the paternally contributed Prader-Willi syndrome/Angelman syndrome (PWS/AS) region on chromosome 15q11-q13. Such testing detects over 97% of patients. Methylation-specific testing is important to confirm the diagnosis of PWS in all individuals, but especially those who are too young to manifest sufficient features to make the diagnosis on clinical grounds or in those individuals who have atypical findings.
Prader-Willi syndrome has no cure. However, several treatments are in place to lessen the condition’s symptoms. During infancy, subjects should undergo therapies to improve muscle tone. Speech and occupational therapy are also indicated. During the school years, children benefit from a highly structured learning environment as well as extra help. Throughout their lives, the subject’s food should literally be kept under lock and key, since the largest problem associated with the syndrome is severe obesity.
Because of severe obesity, obstructive sleep apnea is a common sequela, and a CPAP (continuous positive airway pressure) machine is often needed.

Useful Materials:
in Bulgarian
– Въздействие на синдрома
– Медицинско ръководство за родители и обгрижващ персонал
– Въпроси и отговори
– Към силите на реда по отношение на пациентите със синдром на Прадер-Вили
– Възрастни със СПВ и вземането на решения за установяване на среда на живот с минимална намеса в личния живот и правото на хранене
– Кой е правилният подход при борбата с килограмите и поведението?
– Да се опитаме да вникнем какво се крие зад гневния изблик
– Представете си…
– По въпроса за диетите
– Храната е убиец
– Преяждане до смърт
– Кога кражбата не е престъпление?
– Маладаптационно поведение при децата със СПВ
– Чуйте моя глас
in English
– Special Anesthesia Concerns for Patients with Prader-Willi Syndrome: The Winthrop University Hospital Center Experience
– Beyond the Diet
– Central Adrenal Insufficiency in Individuals with Prader-Willi Syndrome
– Growth Hormone Treatment and Prader-Willi Syndrome
– Growth Hormone for Adults with Prader-Willi Syndrome
– Medical Overview
– Osteoporosis Evaluation and Therapy in Prader-Willi Syndrome

All the materials are courtesy of the International association of patients with Prader-Willi syndrome and have been translated in Bulgarian by collaborators of the Varna Children Endocrinology Clinic!

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Last modification: 12:45 12.06.2018
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BULGARIAN ASSOCIATION WILSON’S DISEASE

by admin 12/06/2018

Contact person:

Daniela Virovska

Postal Address:
Sofiyski geroy Street, block 116, entr. A, app. 6
Hippodrome Residential Complex
1612 Sofia
BULGARIA

E-mail:
info@wilsonbg.org

Website:

www.wilsonbg.org

Governing Body:
Mrs. Daniela VIROVSKA – President
Phone: (+359) 888 904 511
E-mail: d.virovska@wilsonbg.org

Mrs. Gergana Delgyanska
Phone: (+359) 899 932 484
g.delgyanska@wilsonbg.org

Mr. Atanas Shivachev
Phone: (+359) 885 003 092
E-mail: a.shivachev@wilsonbg.org

More information:
Wilson disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, a membrane-bound copper-transporting ATPase. Clinical manifestations are caused by copper toxicity and primarily involve the liver and the brain. Because effective treatment is available, it is important to make this diagnosis early
The main problems faced by patients suffering from Wilson’s disease in Bulgaria are: delay in diagnosis; lack of information about the characteristics of the disease among both health professionals and patients themselves and their relatives; lack of modern and effective medications for the treatment of Wilson disease. Bulgarian Association Wilson’s Disease (BAWD) is a non-party, voluntary, independent association of people suffering from Wilson’s disease and their families.
The main objectives of BAWD are: protection of the rights of people with Wilson’s disease to receive free, timely, adequate and quality care; to unite, inform and encourage people with Wilson’s disease and their families; to support integration of patients with Wilson’s disease to society and overcoming the emotional consequences of the disease; to promote professional qualification and training of researchers and medics in the field, related to diagnosis, treatment and rehabilitation of persons suffering from Wilson’s disease.

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Last modification: 12:19 12.06.2018
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Pituitary Association

by admin 08/06/2018

Contact person:
Ms. Vanya DOBREVA, Varna (President) – (+359) 889 324 216
Ms. Nadezhda YOVCHEVA, Plovdiv – (+359) 886 837 027

Address:

36 Bratya Georgievi Street, Fl. 4, Office 12, Varna

E-mail:
acromegaly@abv.bg

Internet site:
www.pituitary-bg.com

Governing body: –

Postal address: –

Activities and objectives:
Pituitary Association aims to unite people with pituitary rare diseases, e.g. acromegaly, Cushing syndrome, etc.
Main activities so far:
1. Information campaign with Krachun Store. As one of the symptoms of acromegaly is the increasing size of shoes, leaflets inviting customers to test for acromegaly were distributed. The owners of the store – Ms. Vidyo Natsev and his wife Teodora have been supproting acromegaly patients for many years through donations and participation in campaigns.
2. Creating opportunities for diagnosis and follow-up of patients with acromegaly at University Hospital “St. Marina”, Varna. Following a request of Pituitary Association, kits for testing growth hormone and IGF1 were donated. So far the closest possible place to perform tests on patients from northeastern Bulgaria was in Sofia and Plovdiv, and now it will be possible to do in the laboratory of “St. Marina” in Varna. According to the European recommendations on rare diseases, the Association has beeen working to create a reference center for rare diseases of the pituitary gland at the University Hospital “St. Marina”, which would be closely connected with the existing center of expertise in Sofia (University Hospital “Acad. Penchev”). Pituitary Association expresses its gratitude to Prof. Dr. Sabina Zaharieva (University Hospital “Acad. Penchev”) and Assoc. Prof. Dr. Kiril Hristozov (University Hospital “St. Marina”) for their effors to make this project come true.

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Last modification: 10:16 27.03.2012
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ASSOCIATION OF HEREDITARY ANGIOEDEMA PATIENTS

by admin 08/06/2018

Contact person:
Mrs. Yordanka PETKOVA

Address:

8 Yordan Kovachev Street, plovdiv

Mobile phone:
(+359) 886 518 267

E-mail:
nae_08@abv.bg

Internet site:
www.naebg.eu

Governing Body:
Mrs. Yordanka PETKOVA – President
Mr. Marian IVANOV
Mr. Tsvetan ALEKSANDROV

Activities:
• Protecting the rights of HAE patients
• Helping, uniting and informing HAE patients
• Introducing HAE and problems related with this diseases to the society
• Making contacts and co-operating with governmental institutions in Bulgaria, involving them in the resolving of HAE patients` problems
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Last modification: 11:59 08.06.2018
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CORNELIA DE LANGE SYNDROME ASSOCIATION

by admin 01/06/2018

Contact Person:
Mrs. Elizabeta KARABIBEROVA

Address:

–

Mobile phone:
(+359) 888 330 318

Fax:
(+359 2) 958 96 78

E-mail:
info@cdls-bg.org

Internet site:
www.cdls-bg.org

What is the Cornelia de Lange Syndrome?
CdLS is a congenital syndrome, meaning it is present from birth. Most of the signs and symptoms may be recognized at birth or shortly thereafter. A child need not demonstrate each and every sign or symptom for the diagnosis to be made.
As with other syndromes, individuals with CdLS strongly resemble one another. Common characteristics include: low birthweight (usually, but not always, under five pounds), delayed growth and small stature, and small head size (microcephaly). Typical facial features include thin eyebrows which frequently meet at midline (synophrys), long eyelashes, short upturned nose and thin, downturned lips.
Other frequent findings include excessive body hair (hirsutism), small hands and feet, partial joining of the second and third toes, incurved fifth fingers, gastroesophageal reflux, seizures, heart defects, cleft palate, bowel abnormalities, feeding difficulties, and developmental delay. Limb differences, including missing limbs or portions of limbs, usually fingers, hands or forearms, are also found in some individuals.

Mission
The CdLS Association exists to ensure early and accurate diagnosis of CdLS ; promote research into the causes and manifestations of the syndrome and help people with a diagnosis of CdLS to make informed decisions throughout their lifetime.
The Association is run entirely by volunteers including parents and professionals.

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Last modification: 10:01 22.08.2008
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ASSOCIATION CYSTIC FIBROSIS

by admin 30/05/2018

Contact Persons:

Sofia:
Anton Aleksiev – president
Phone: (+359) 888 802 640

Dimitrovgrad:
Svetlana Atanasova
Phone: (+359) 899 850 441

Blagoevgrad:
Rumyana Mihova
Phone: (+359) 898 490 411

Varna:
Atanaska Georgieva
Phone: (+359) 878 944 688

Plovdiv:
Mariya Kalcheva
Phone: (+359) 897 823 075

Expert events and communications:
Petya Tsvetkova
Phone: (+359) 899 599 128

Marketing Expert:
Neli Kozhuharova
Phone: (+359) 883 510 277

Postal Address:
22-A Zhitnitsa Street, Building 255, Ent. D, Fl. 8, Apart. 23
Krasno selo, Sofia
BULGARIA

Mobile Phone:
(+359) 888 802 640

E-mail:
info@lifewithcf.org

Website:
www.lifewithcf.org

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Last modification: 13:55 30.05.2018
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