Help Jolene get the support she needs

It’s a parent’s worst nightmare. With hearts full of happiness, you celebrate the arrival of your first child and get ready to take her home when it all goes wrong. Fear is in the faces of nursing staff as they notice seizures, an emergency ambulance trip to the neo-natal intensive care unit miles away, EEG scans, doctors consulting other doctors across the nation, sleepless nights on benches in the hospital room of your child, and then the family learns the worst days later – your child is afflicted with a rare genetic disorder known as KCNQ2-NEO-DEE, a disorder with no known cure and in many cases, a lifetime of impairment. This was the heartbreaking reality that was facing the Nicoletti family with the birth of their first child, Jolene.

As is the case with Jolene, many children diagnosed with KCNQ2-NEO-DEE are unable to talk or walk, and also suffer from a visual impairment called Cortical Visual Impairment. In addition to the general cognitive and developmental disabilities affecting nearly all of those with KCNQ2-NEO-DEE, many children also display repetitive movements, poor eye contact, self-harm, sensitivity to sound, or other symptoms associated with severe autism. More problematic is that there is no one solution-fits-all fix. For months, doctors had to experiment with various doses of several medications to calm the seizures all while weighing the side effects of these potent drug cocktails against the benefits to infant Jolene.

Most KCNQ2-NEO-DEE patients require full-time care and Jolene is no exception. What would be a normal lifestyle for most parents in their thirties is something the Nicoletti family does not know. Jolene is their baby and worth any sacrifice. Both parents retooled to find remote-work at home jobs so they can provide the 24/7 loving at-home care Jolene requires. While this has been manageable in Jolene’s earlier years, from a physical standpoint it is becoming increasingly difficult as she grows. What most parents would take for granted with a child – things like bath time, diaper changes, going on a trip - are all major undertakings that have been exacerbated as Jolene, now almost 5 years old, gets bigger. Now at almost 40 pounds, the effort required to lift Jolene and get her in and out of her car seat for trips to the doctor, therapy, bathing, specialized chair for feeding, or even into bed is bordering on impossible for her petite mom, Stephanie. Imagine trying to change a diaper in public – you cannot use those fold-out tables intended for infants that are found in most public bathrooms and this leaves you few options. This is not to mention the voluminous amount of equipment that must go with Jolene on any outing including a heavy, specialized wheelchair, bags of diapers, medications, changes of clothes, etc…

Despite her challenges, Jolene is a happy toddler who is showered with love by her parents and her extended family. Unfortunately, in a tightening economy, all the love in the world is not going to address the family’s current needs for Jolene. The Nicoletti’s are in need of help to cover increased costs of caring for Jolene.

The Go Fund Me goal for Jolene and the Nicoletti’s is $25,000 to purchase a protective hospital bed and supportive equipment. Monies raised would also be dedicated to other specialized equipment including a bath/shower lift. The Nicolettis have fought with insurance for years to get Jolene a hospital bed in particular, only to have it repeatedly denied, leaving her stuck sleeping in a crib that causes her injuries and risks entrapment of her limbs.

With the rarity of KCNQ2-NEO-DEE, few pharmaceutical companies are interested in making the investment to find a cure as the return on investment is not there. As such, anything that can be done to make Jolene’s situation better is a gift from God.

The Nicoletti’s welcome and greatly appreciate any support you can provide for them to reach this goal for Jolene.

Thank you from the bottom of our hearts.