In May of this year, after 2 years of searching for a diagnosis, our friends daughter Lejla was diagnosed with an extremely rare genetic disease called CHAMP1. This genetic disorder was only recently discovered in 2015 and only about 65 people in the world have it. Because it is so new, there in not a ton of research on the disease and families can only go by what other patients have dealt with. Lejla is a sweet and happy two year old and her parents want to not only give her the best life possible but they also want to give back and let future children diagnosed with the disease learn from their daughter and her treatment plan. Money raised will be used for Lejla’s treatments and some will also be donated straight to CHAMP1 research. Every penny counts and we appreciate anyone who is able to make a donation to our cause. 

Our first fundraising goal is to make enough to purchase Lejla a QRI Laser. The QRI Harmonic Cold Laser combines the powerful effects of cold laser, sound, and reflex integration techniques. Reflex Integration revives the nervous system for quick, visible results.  These techniques re-pattern both primitive and lifelong reflexes for the development of efficient neurological processing. This device would help Lejla tremendously. 


Lejla is a Champ1on and we need your help to win this fight!

The following FAQs were taken from the Champ1 Research Foundation site
What is CHAMP1?
CHAMP1-Short for Chromosome Alignment- Maintaining Phosphoprotein. CHAMP1  an ultra rare genetic disease discovered in 2015. It is located on chromosome 13 and is said to be crucial in cell division called mitosis. The mutation of the CHAMP1 gene  is refered to as  Haploinsufficiency, this means out of the 2 alleles the mutation causes a loss of function to one  leaving those affected with a single functional copy. Patients with CHAMP1 have a reduction in the CHAMP1 protein below the 50% which is  necessary for proper neurological Function and development.

What are the symptoms identified?
Children with CHAMP1 have varying levels of functionality. The lack of protein is responsible for a multitude of symptoms. Given the limited sample size of patients they are often affected differently. 

The most recurrent symptoms of significance include global developmental delay/Intellectual disability  and severe speech delay/loss. Below is a list of other symptoms present in children with CHAMP1  but not all may be related to the mutation.

Developmental delay
Severe Speech delay/loss of speech
Learning disabilities
Autistic features or traits
Feeding difficulties from birth
Reflux
Atypical Neurological behavior
Abnormal MRI(white matter ,Microcephaly, Structural deformities )
Hypotonia
Epilepsy (seizures)
Vision Issues ( intermidite , near/far sighted, nystimga, Stabismus)
Incontinent
repetitiveness
Anxiety
Sleep issues (Apnea, Wakes frequently. Disturbances
Flat nose bridge
Low set ears
Small Stature
CVS(Cyclical vomiting Syndrome)
Dental issues ( small teeth, misaligned, Baby teeth stay in to long)

Is there a cure or treatment?
Currently there is no cure  or significant treatment for CHAMP1 yet but early and personalized intervention is recommended and necessary to thrive. Traditional therapies have been shown to show some improvement over time.

Speech therapy (including assistive technology and picture models)
Physical therapy
Occupational therapy



Please visit The Champ1 Foundation for more information or to donate to the research