When Eleni was first born, doctors and nurses told her parents, Neil and Eloise, that their daughter would most likely not survive. That’s because Eleni had been diagnosed with nonketotic hyperglycinemia (NKH), a rare metabolic disorder. Even though Eleni was placed on life support, the little girl proved the doctors wrong and came home with her parents. Now, shares the Northampton Chronicle, her family is working to raise funds to implement home adaptations for Eleni, who is now nearly 3 years old. 

According to the JustGiving donation page, Eloise writes:

“We are looking to raise funds to go towards building an extension with adaptations…[including] a ground floor bedroom, wet room, fold down adult size changing table (£5000 alone) or if funds allow it, a height adjustable bath with water jets to massage Eleni’s muscles (£10,000+) and storage space for Eleni’s medical equipment and medications. The estimated total price of the full build is around £70,000.” 

While the family is eligible to receive a £30,000 (approx. $35,490.60) disabled facilities grant, the local council will not provide the grant unless the family can come up with the remainder of the money. 

Neil and Eloise reached out to social media for help. They found a number of volunteers and crafted a plan. The group of 12 would abseil down the side of the National Lift Tower to help raise funds. Clad in bumblebee costumes, those involved descended over 416 feet. They not only raised £3,306 (approx. $3,911), but helped raise nonketotic hyperglycinemia awareness on a much larger scale.

What is Nonketotic Hyperglycinemia (NKH)?

As described above, nonketotic hyperglycinemia is a rare genetic metabolic disorder characterized by high levels of glycine, an amino acid, throughout the body. GLDC or AMT gene mutations are linked to the severe, classic and classic forms of nonketotic hyperglycinemia. In this form, proteins within the glycine cleavage enzyme system are mutated or abnormal. This prevents the body from breaking down glycine. ISCA2, IBA56, LIAS, GLRX5, NFU1, BOLA3, LIPT1, and LIPT2 gene mutations have all been implicated in the variant form.

Typically, symptoms in the severe, classic form of nonketotic hyperglycinemia manifest within the first week of life. This form may be fatal. Those who survive often require 10-20 days of ventilation support. Symptoms can include:

• Apnea
• Seizures
• Lethargy
• Hypotonia (low muscle tone)
• Difficulty feeding
• Severe developmental delays
• Respiratory distress
• Coma

In the less severe classic form, symptoms often manifest either shortly after birth or during infancy. While some symptoms overlap, these patients may have mild (or profound) developmental delays, hyperactivity, and behavioral issues. Finally, in the variant form of nonketotic hyperglycinemia, symptoms can include:

• Optic neuropathy
• Heart muscle weakness
• Developmental regression
• Smaller than average corpus callosum 
• Balance problems
• Acid accumulation in the blood
• Muscle spasticity problems
• Increased pulmonary blood flow resistance
• Seizures