BENEFITING: Charities Aid Foundation America
Many of you know my brother Austin. For those of you that don't, I feel bad for you, because my brother is the coolest person I know. My brother has a chromosomal deletion called Kleefstra Syndrome. You've probably seen me talk about it on Facebook before. He was one of the first people IN THE WORLD to be diagnosed with the rare chromosomal deletion disorder. Our family was both relieved and terrified to find this out, as Austin had been mis-diagnosed for the entirety of his childhood. We didn't know what to expect as this extremely rare condition was nearly unheard of in 2003. Our family wasn't sure how to proceed. Over ten years later, all of that has changed. Thanks to social media, advances in medical science, and the growing number of diagnoses, our Kleefstra Family has grown to span the globe.
Due in large part to the recent exposure and research, there has been a revolutionary breakthrough to potentially REVERSE the intellectual disability that is the primary symptom of Kleefstra Syndrome.
During this time of giving for the holiday season, I ask you to please consider donating to my fundraiser benefitting GeneSpark. Your donation will allow our researchers to continue making their progress in order to help my Kleefstra brothers and sisters worldwide. All donations are receipted by email and are directed to the GeneSpark.org Fund at CAF America.
Also visit www.GeneSpark.org for more news and events. Thank you from the bottom of our hearts! The Carlisle-Spratt-Denny family. You can read more about Kleefstra Syndrome and the work that GeneSpark is doing on my fundraising page.
You can read more about Kleefstra Syndrome below!
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.