Dear Family, Friends and Supporters,

On August 7, 2024, Hailey Starkey and Joseph Martinez received news that would forever change their lives. Their newest addition to the family, Zedekiah born May 22, 2024, was diagnosed with an extremely rare genetic disorder called Jeffries-Lakhani Syndrome which is caused by a mutation in the CRELD1 gene. This is a 1 in 1,000,000 disorder with only 18 documented cases worldwide.

The CRELD1 gene, which typically relates to atrioventricular septal defects can when mutated lead to this rare condition. Symptoms can range from mild movement issues to severe development and cognitive delays. Additionally, most will face frequent treatment resistant seizures, adrenal insufficiency, significant hearing loss, underdeveloped eyes, and respiratory issues. Many children with this condition have sadly passed away due to seizure complications. Therefore, it’s crucial to prevent fevers and infections as these things can often trigger seizures.

Zedekiah’s current symptoms include:

1) FTT (failure to thrive) which takes a village to diagnose, treat and manage. If left untreated – long term, can lead to abnormal brain development and delayed milestones such as rolling over or walking. As a precaution, he has been placed on a feeding tube which goes through his nose and directly into his belly. A medical chair is needed for mouth feedings as he needs to be in an upright position to prevent pooling at the back of his throat since he has experienced difficulties in swallowing after his first seizure.

2) Underdeveloped eyes which causes poor/blurred vision and unvoluntary eye rolling/movement. Glasses can help to strengthen his eyes, provide clearer vision and help to prevent unvoluntary eye rolling/movement.

3) Frequent treatment resistant seizures which can cause significant development delays, cognitive impairments, learning disabilities and potential neurological damage due to the repeated brain activity disruption caused by seizures, impacting their motor skills, social interactions. A trained seizure response dog would greatly enhance Zedekiah’s safety and quality of life. They are trained to detect/recognize when a seizure starts to build up before it occurs. Early detection can make a crucial difference providing immediate support and assistance. It would also bring peace and comfort to Hailey and Joseph knowing that they would not miss a seizure during the night as they currently sleep in shifts to watch over him.

4) Bilateral partial lambdoid synostosis . A rare condition that occurs when the lambdoid sutures at the back of the head fuse together prematurely. Symptoms include: flattened head, displaced ear, trapezoid shape, bulge, tilted skull & asymmetric face. Surgery maybe needed if pressure builds up inside the skull as the baby’s brain grows which would lead to slowed mental development & blindness. He will need MRI’s done every few months to monitor his brain pressure.

I have set this account up for my Niece Hailey & her family to help relieve the stress of financial burdens, to purchase the medical chair, glasses and a seizure response dog.

Please share Zedekiah’s story, join the journey and donate if you can. Let’s bring attention and awareness to this very rare genetic disorder!

Please keep Hailey, Joseph, Ophelia, Ezekiel, and Zedekiah in your prayers.

With deepest gratitude,

Stephanie