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Will and Shanna dediego's Fundraiser:

deDiego family for Kleefstra Syndrome

Will and Shanna's Photo
Will and Shanna's Photo
Will and Shanna's Photo
Will and Shanna dediego

THE STORY:

Ashlee deDiego is 24 years old and was diagnosed with Kleefstra Syndrome (KS) in October of 2011 via genetic testing. Ashlee has a rare chromosomal deletion disorder, which has resulted in reduced cognition and motor functioning, and autistic like tendencies. We are just back from attending a power house Kleefstra Conference in Boston in June 2016, whereby there were many prominent Doctors, Geneticists, and Research Scientists including Dr. Kleefstra from the Netherlands, reporting on possible paths forward to possibly REVERSE this intellectual disability. We now have hope that sometime soon there might be a treatment for Ash for her to have a more normal life. The presentations and research information that were presented, showed incredible advances that are happening NOW in medical science and technology, and that the future is looking very bright for Ashlee. Please read about Kleefstra below, and join us on the threshold of what is a revolutionary breakthrough for Ashlee and her Kleefstra brothers and sisters.... a chance to potentially REVERSE the intellectual disability that is the primary symptom of Kleefstra Syndrome. 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. Behavioral 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 deDiego family

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To This Fundraiser

$925

MONEY RAISED
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  • Anonymous

    $500

  • Anonymous

    $100

  • John and Karen File

    $25

  • Yuliana Prokopenko

    $50

  • Katie & Lucy

    $100

  • Anonymous

    $100

  • Emma Lynn and Orion

    $50

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37% Raised of $2,500 Goal

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The Team: $925 TOTAL RAISED SO FAR

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Donor Comments

Emma Lynn and Orion

Emma Lynn and Orion

DONATION: $50

Go, Ashlee! 1 year ago

Anonymous

ANONYMOUS

DONATION: $100

1 year ago

Katie & Lucy

Katie & Lucy

DONATION: $100

You go girl!!! 1 year ago

Yuliana Prokopenko

Yuliana Prokopenko

DONATION: $50

Ash is a sweetheart! 1 year ago

John and Karen File

John and Karen File

DONATION: $25

What a sweetheart!!! Thank you God for these amazing doctors and all the research!!! 1 year ago

Anonymous

Anonymous

DONATION: $100

1 year ago

Anonymous

ANONYMOUS

DONATION: $500

1 year ago