KCNQ2 2 Mile Awareness Fun Run

Entry Fee Includes an Event T-Shirt All proceeds from this event will go towards KCNQ2 Genetic Research!

 

Race Day Info The race will start at 9:00 am and conclude at 10:00 amThe course is about 45% paved path and 55% trail.The 2 Mile Course You will start on the bike path on the east side of Columbia Point Park by the I-182 bridge. You will head east on the bike path and then take a left turn onto a gravel path. Follow that path until it connects back to the bike path under the bridge where the finish line awaits you. Awards will be provided to the top 3 male and female runners. Stick around after the race for our raffle! 

In-Person Packet Pickup:

4:00 PM to 6:00 PM at 1446 Spaulding Ave, RIchland WA 99352 Ste 203 (Ask for Kyle)There will be race day packet pickup  https://photos.app.goo.gl/ELtjtGhuGMiuA3Jj6 THERE ARE NO REFUNDS OR DEFERRALS

Virtual Option:

If you are out of town and would like to join in, there is a virtual option.The virtual option is more to help cover the shipping expense. We will ship out the race t-shirts and bib numbers to the virtual runners as soon as they are received.Registration closes sooner on the virtual option to help guarantee everyone gets a shirt and bib number. Please contact me if you have any questions: [email protected] Do you plan on running/walking with your child under 6? Send me an email and I will make sure they get a bib! [email protected]

 

ABOUT US
My wife (Edith) and I are starting this fun run to help raise awareness and funds for KCNQ2 epilepsy. Our daughter Claire was diagnosed with a KCNQ2 gene mutation which caused her to have seizures on her second day out of the womb. It has been a scary journey to reach this diagnosis with two flights to Seattle Children's hospital and several anti-seizure medications. We have her condition under control and she is a very happy and healthy baby. 

We want to raise funds for an organization that has helped parents and those who have KCNQ2 connect to share stories and support one another. They also help promote genetic research to better understand this condition, and others that can cause epilepsy. More information about KCNQ2 can be found below as well as at kcnq2cure.org and kcnq2.org.

 

WHAT IS KCNQ2?

KCNQ2 is a gene involved in the proper functioning of a potassium channel in the brain. Abnormal changes, or mutations, in the gene are associated with seizures. KCNQ2-related epilepsies represent a spectrum of conditions from mild to severe. In 1998, mutations in KCNQ2 were associated with a mild condition called “Benign Familial Neonatal Epilepsy” or BFNE. Babies with BFNE have seizures that begin shortly after birth and then stop within several months. Development is usually normal. BFNE may run in families, as the name implies.

Researchers recently identified different mutations in KCNQ2 that are associated with a severe form of neonatal epilepsy. This severe, non-inherited (de novo) form has been called several names: KCNQ2 encephalopathy, KCNQ2-related neonatal epileptic encephalopathy, KCNQ2-deficiency syndrome, and KCNQ2-related epilepsy. As more patients are diagnosed with this emerging condition, doctors are finding that this mutation contributes to a spectrum of clinical outcomes that includes developmental problems ranging from moderate to severe.

 

SIGNS and SYMPTOMS

KCNQ2 Developmental and Epileptic Encephalopathy (KCNQ2) typically present with seizures in the first week of life. Seizures appear as stiffening of the body (tonic) often associated with jerking and changes in breathing or heart rate. The seizures are usually quite frequent (many per day) and often difficult to treat. Typically, the seizures are associated with abnormal brain wave patterns on EEG during this time. The seizures in KCNQ2 often resolve within months to years but children have some degree of developmental impairment involving one or more domains (motor, social, language, cognition).  There is wide variability in the symptoms of patients with a KCNQ2 diagnosis. Some have very limited, or no noticeable seizure activity and the developmental impairment can range from mild to severe, depending on a number of different factors. Some children may also have autistic features or other comorbidities.

What is the prognosis?

Of patients reported in the medical literature, prognosis appears to be variable. Seizures may eventually come under control with medication. Most, but not all, children will have fewer or no seizures after approximately age 3 years, but developmental delays may become more evident as the child grows older. In the majority of KCNQ2-related epilepsy cases reported in the medical literature, the child is slow to speak and is dependent on caregivers. Early diagnosis by genetic testing may avoid unnecessary evaluations for other causes.

More information found here:

www.kcnq2cure.org/kcnq2-epilepsy/#what

https://kcnq2.org/what-is-kcnq2/