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JOlyn Pinzl's Fundraiser:

Solving the Mystery of Mr. E

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THE STORY:

Mindy Kraemer wrote -

Enigma, puzzle, riddle, conundrum, paradox,quandary.... All words that I have heard doctors, teachers, therapists, and caregivers use to describe my Evan....my E....my Mr. E....my mystery. If you've met Evan you can't help but be struck by his beautiful smile, the glint of mischief in his eye, his determination. There is something about him that draws others to him...to want to touch his hair and smooth their hand across the soft skin of his cheek. We are stopped on the street, in stores and restaurants by people that just want to talk to him. Animals are drawn to him and seem to try to communicate. Others just seem to sense how special he is. I know how special he is. I also knew Evan was sick from the time he was born in January, 1995. In 2005 I finally found out why my precious little boy had been so sick and afflicted with so many medical anomalies throughout his life.  He was diagnosed with chromosome 9-q subtelomeric deletion, now known as Kleefstra Syndrome. His geneticist informed us that there were 32 confirmed diagnoses in the world and that Evan was the second child with a confirmed diagnosis in the United States.  (I have since learned that Evan was among the first four in the US.) The only thing that could be done, since Evan is one of the older children with the diagnosis, would be to treat symptoms, illnesses, and additional syndromes as they arose.  I was told that the prognosis was unknown and related to other medical issues that may arise. That prognosis hasn't changed since 2005. Today, however, there is hope. GeneSpark.org, an international non-profit foundation, is raising money to fund scientific research projects aimed at advancing a drug treatment for Kleefstra syndrome (KS).  There have been so many advances in medical science and technology that the future is looking very bright for children diagnosed with this mysterious syndrome. While Evan has had many medical setbacks, he has not lost his will and determination. With the unique and complex medical issues that Evan has experienced, this past year has proven again and again that Evan has at least one mission to complete. This could be one of them. Please read about Kleefstra Syndrome below and join us on the threshold of what is a revolutionary breakthrough for Evan and his Kleefstra brothers and sisters.... a chance to potentially REVERSE the intellectual disability that is the primary symptom of KS.... a chance to solve the KS mystery and potentially help Mr. E and his Kleefstra Syndrome brothers and sisters around the world. We appreciate your interest and consideration of making a donation to this very worthy cause. (Insert image of Evan's infectious smile and heart-felt LA – Evanese for “love” - here.) 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). Psychological disturbances are not uncommon. Our children are known to experience gastrointestinal disorders, vision problems, temperature regulation issues, metabolic disorders, and other medical issues that encompass all of the major body systems. 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. In certain more severe cases, death has resulted from abnormalities or complications caused by KS. 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 behavioral); assistance by a parent or caregiver for feeding, dressing, toileting, personal cares; careful monitoring and treatment of symptoms; being aware of how other KS patients' symptoms are treated; coordinating medical care with multiple specialists; and making lifestyle choices based on the patient’s needs. Well-known medications may also be used to treat specific features such as epilepsy, respiratory, gastrointestinal, and behavioral problems. Most parents of KS patients rely heavily on the experiences of other KS families to help effectively care for their children. While there is no treatment today, scientists do know enough to begin working towards developing a drug. Funding is the biggest hurdle and, as such, your donation and support can put a treatment within reach. Consider a donation on this page. We accept tax-deductible donations from U.S. taxpayers through our partnership with Charities Aid Foundation America (CAF America), an independent U.S. registered charity. All donations are receipted by email and are directed to the GeneSpark.org Fund at CAF America. For additional information on KS, visit www.kleefstrasyndrome.org. Also visit www.GeneSpark.org for more news and events. Thank you so much for taking the time to learn about Kleefstra Syndrome! With love and gratitude~ The Moore-Kraemer family

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The Team: $455 TOTAL RAISED SO FAR

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Fundraiser Title

Mindy Kraemer

Amount Raised

$355

 

7% Raised of$5,000 Goal

Fundraiser Title

JOlyn Pinzl

Amount Raised

$100

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JOlyn Pinzl

JOlyn Pinzl

DONATION: $100

for Evan Kraemer 3 years ago