My nephew Frank Peter Benczenleitner was the first child, in all of America to be diagnosed with what they called it back in 1970, as Pancreas Insufficiency and Neutropenia. Today they call it Shwachman’s-Diamond Syndrome. They had to send to Switzerland for Dr. Shwachman. Frank spent more than ½ of his life in the Sick Children’s Hospital in Toronto, Ontario, Canada. Right up until before he was killed in a car accident. He was 21. From the findings after his last visit, we received a letter addressed to him. They had found a gene for Cystic Fibrosis with what he called his ginny pig work/help. All this and when he was born the doctors did not know what was wrong; they just knew he was unable to digest enzymes with his pancreas. He never made too much of a fuss. He was resistant so stoic.
In hind sight it was also believed that my Aunt Diane A.N. had every symptom of this syndrome although we could not confirm it due to her death.


http://www.cafamily.org.uk/medicalinformation/conditions/azlistings/s24_6.html

Shwachman-Diamond syndrome: Shwachman syndrome

Shwachman-Diamond syndrome is a rare, multi-system disorder in which affected individuals have a defective pancreas that fails to secrete digestive enzymes, poor growth and a predisposition to recurrent infection and blood disorders.
Shwachman-Diamond syndrome

What are the symptoms?
The digestive defects results in diarrhea and fatty stools with fat soluble vitamin and mineral deficiency. Poor growth is an integral part of the condition in about fifty per cent of individuals. Specific skeletal defects are present including metaphyseal dysostosis and a thoracic dystrophy. Dental problems are common and can be severe. Mild to moderate learning difficulties are present as well as behavioral and feeding problems in up to fifty per cent of affected children.
Expression of the disorder is variable and ranges from mild pancreatic insufficiency to a serious life-threatening disorder. Some spontaneous improvement in symptoms may occur, usually after the age of eight years.
Recurrent infection, which may be life threatening, is due to both minor immunodeficiency and neutrophil defects. In about sixty per cent of cases, neutropenia is present and this may be cyclical. In severe cases more serious haematological disorder may occur with aplastic anaemia (anemia - US) myelodysplasia and possibly acute myeloid leukemia. Rarely, hepatic fibrosis and ichthyotic skin lesions may occur.

Medical text written December 1993 by Professor P Milla. Last updated October 2005 by Professor P Milla, Professor of Pediatric Gastroenterology and Dr N Shah, Consultant Pediatric Gastroenterologist, Great Ormond Street Hospital, London, UK.
About the Directory

How is it treated?
Treatment is by pancreatic enzyme replacement and multi-vitamin supplements with prophylactic antibiotics to prevent infection and aggressive treatment of infections when they occur. Haematological and immunological defects may require appropriate specific treatment. Psychological intervention and feeding interventions may also be needed.
A register of patients is maintained in the Department of Gastroenterology, Great Ormond Street Hospital for Children, London WC1N 3JH
Inheritance patterns and prenatal diagnosis

Inheritance patterns
Autosomal recessive but may occur sporadically. The gene affected is the SBDS gene found on chromosome 7. five per cent of all known cases have a common compound heterozygote mutation. Genetic testing following careful clinical evaluation is available at the North West Regional Genetics Reference Laboratory, St. Mary's Hospital, Hathersage Road, Manchester M13 0JH, Tel: 0161 276 6122 / 6605, contact Dr Martin Schwarz, Consultant Clinical Molecular Geneticist.
Prenatal diagnosis
Available for those with confirmed mutations in the SBDS gene.

Schwachman-Diamond support
6 The Link
Rye
East Sussex
TN31 7BT
Tel: 01797 223675
e-mail: mail@sdsuk.org
Web: http://www.sdsuk.org
The Group is a National Registered Charity No. 1081122, established in 2000. It offers support for affected persons and their families and promotes research initiatives. It aims to raise awareness of Shwachman syndrome among the medical profession, support agencies and the public. It offers an information booklet and bi-annual family conferences. The group has a medical advisory board.
Group details last updated January 2010.