Tag Archives: Schwartz Jampel Syndrome

Haatchi & Little B

Haatchi & Little B

Haatchi & Little B: The Inspiring True Story of One Boy and His Dog by Wendy Holden

On a bitterly cold night in January 2012, Haatchi the dog was hit over the head, and abandoned on a railway line to be hit by a train. The driver saw the adorable five-month old Anatolian Shepherd moments too late. Somehow, the terrified puppy survived the blood loss from his partially severed leg and tail and managed to crawl away to safety.

Fortunately, Haatchi was rescued, although vets couldn’t save his leg and tail. A Facebook appeal brought him to the attention of a couple of kind-hearted dog lovers, Colleen Drummond and Will Howkins, who are also the dad and stepmum of Owen (known to his family as Little B for ‘little buddy’). One look at Haatchi’s expressive face told them all they needed to know and the lucky dog moved into the Howkins’ family home just six weeks after almost being killed. Owen, now aged eight, has a rare genetic disorder (Schwartz Jampel Syndrome) which causes his muscles to tense permanently. Largely confined to a wheelchair, he was withdrawn and anxious and found it difficult to make friends. But when Owen awoke the morning after Haatchi arrived he immediately fell in love with the severely disabled rescue animal who would, in turn, rescue him.

This book tells their inspiring true story — one astonishing little boy and the very special dog who has changed his life forever.

You can purchase this moving and inspirational story of the friendship between one boy and his dog on July 1, 2014.


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Schwartz Jampel Syndrome

Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterized by abnormalities of the skeletal muscles, including muscle weakness and stiffness (myotonic myopathy); abnormal bone development (bone dysplasia); permanent bending or extension of certain joints in a fixed position (joint contractures); and/or growth delays resulting in abnormally short stature (dwarfism). Affected individuals may also have small, fixed facial features and various abnormalities of the eyes, some of which may cause impaired vision. The range and severity of symptoms may vary from case to case. Two types of the disorder have been identified that may be differentiated by age of onset and other factors. SJS type 1, which is considered the classical form of the disorder, may become apparent during early to late infancy or childhood. SJS type 2, a more rare form of the disorder, is typically recognized at birth (congenital). Most researchers now believe that SJS type 2 is actually the same disorder as Stuve-Wiedemann syndrome and not a form of SJS. (For more information on Stuve-Wiedemann syndrome see the Related Disorders section of this report.)

SJS is thought to be inherited as an autosomal recessive trait. However, some cases reported in the medical literature suggest an autosomal dominant inheritance pattern.

Synonyms

  • chondrodystrophic myotonia
  • myotonic myopathy, dwarfism, chondrodystrophy, ocular & facial anomalies
  • Schwartz-Jampel-Aberfeld syndrome
  • SJA syndrome
  • SJS

Disorder Subdivisions

  • Schwartz-Jampel syndrome, type 2
  • Schwartz-Jampel syndrome, types 1A and 1B

Organizations related to Schwartz Jampel Syndrome
**Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., visual handicaps, short stature, risk for malignant hyperthermia, etc.].