BENEFITING: Charities Aid Foundation America
Deborah Carlisle wrote -
Austin Spratt is 26 years old and was diagnosed with Kleefstra Syndrome when he was 14 in 2003. He was one of the first to be diagnosed with the rare chromosomal deletion disorder, and upon diagnosis, we were both elated to have a path to follow and terrified to find out what the future held for our son. Very little was known in 2003 about what is now called Kleefstra Syndrome. There have been so many advances in medical science and technology that the future is looking very bright for our Austin. Please read about Kleefstra below, and join us on the threshold of what is a revolutionary breakthrough for Austin and his Kleefstra brothers and sisters.... a chance to potentially REVERSE the intellectual disability that is the primary symptom of KS. We appreciate your interest and consideration of making a donation to this very worthy cause.
Kleefstra syndrome* (KS) is a rare genetic condition in humans caused by a mutation (which can be a deletion or other type of mutation) of the gene known as EHMT1. The mutation of the gene occurs in one of the two copies of a person’s chromosome 9. The EHMT1 mutation is almost always “de novo”, meaning that it is something that neither parent possessed or transmitted (although this may be possible in certain rare cases). The EHMT1 gene codes specifically for the production of a protein called euchromatin histone methyltransferase 1. A patient with KS is said to be haploinsufficient, meaning that the remaining level of EHMT1 protein activity is insufficient because one gene copy is not functional. EHMT1 is a critical gene in human development and function. The protein that is to be produced is part of the “epigenetic machinery” and is believed to be involved in the important process of silencing (or turning “off”) other genes; therefore, its deficiency results in a number of often serious medical issues discussed below.
KS is characterized by intellectual disability and various other neurological and physical abnormalities. With respect to intellectual disability, the majority of individuals are believed to function in the moderate to severe spectrum with an IQ of less than 70 in many cases. Most patients have severe expressive speech delay with little speech development, although nonverbal communication may be possible. With respect to other neurological and physical abnormalities, a patient may have childhood hypotonia (low muscle tone which is often associated with reduced muscle strength, and therefore, reduced basic gross motor skills such as walking), distinctive facial features (including mid-face hypoplasia, short nose/depressed nasal bridge, thin upper lip and open mouth in infancy with protruding tongue), various developmental delays and other physical abnormalities. Other physical abnormalities include heart defects, renal/urologic defects, genital defects in males, severe respiratory infections and epilepsy/febrile seizures. Behavioural abnormalities may include extreme apathy or catatonic-like features during or after puberty and autistic-like features in childhood (KS patients are often dual diagnosed with Autism Spectrum Disorder). In certain more severe cases, death has resulted from abnormalities or complications caused by KS. Included in this section is a comprehensive list of known features of KS patients, although it is important to note that the patient population remains small (which may lead to conclusions changing over time) and situations can vary from patient-to-patient.
Currently, there is no drug or similar therapeutic treatment for KS patients. As a result, managing KS on a day-to-day basis involves various therapies (most commonly speech, physical, occupational and behaviural), assistance of a parent or caregiver, careful monitoring of symptoms and making lifestyle choices based on the patient’s needs. Well-known medications may also be used to treat specific features such as epilepsy or behavioral problems. For additional information on KS, visit www.kleefstrasyndrome.org.
Also visit www.GeneSpark.org for more news and events. Thank you from the bottom of our hearts! The Carlisle-Spratt-Denny family