(Nolan is truly a super hero in my book. His mother messaged me and gave me permission to use his story that was posted to the KCNQ2 Cure Alliance page. You can check it out too for more stories like these and fundraisers used for research. Please say a special prayer for Nolan. These newborn days in and out of the hospital are some of the hardest.)
Nolan was born early on the morning of February 03, 2018. He was born blue and was having difficulty breathing. After the doctor and nurses stabilized him, he was rushed to our hospital’s Neonatal Intensive Care Unit (NICU). Within his first few hours of life, Nolan began having seizures. As the day progressed and the seizures did not subside, it became clear that Nolan had to be transferred to a hospital better equipped to handle his issues. He ended up being transported two hours away to A.I. duPont Hospital for Children| Nemours
Nolan’s seizures were constant and impossible to control. The doctors tried many different medications, with little success. They were left with no alternative but to induce a coma state. Nolan’s doctors ordered urgent genetic testing. We received Nolan’s diagnosis on February 20th, just 17 days after he was born. Nolan had #KCNQ2 Epileptic Encephalopathy. Now armed with a diagnosis, this allowed us to have a focused treatment plan.
We began sodium channel blockers and put Nolan on a #ketogenic diet to help control his seizures. We were able to minimize them, but his EEG remained problematic. In addition to his seizures, Nolan had difficultly maintaining his airway and had acute respiratory failure, which required a breathing tube; he had double PICC lines and an artery line placed; he was diagnosed with diabetes insipidus; he had severe low blood pressure and required medication to keep him stable; he was diagnosed with Micrognathia; he has Oropharyngeal Dysphagia, difficulty eating and is an aspirator, which necessitated gastrostomy tube surgery; and he had severe bilateral hip dislocation that was corrected with double hip surgery.
After three and a half long months in the NICU, we were finally able to take Nolan home on May 10, 2018.
Unfortunately, subsequent to his return home, Nolan’s condition further declined. In addition to the aforementioned afflictions, Nolan’s battles continue to mount. Along with his extremely rare genetic disorder of KCNQ2 Epileptic Encephalopathy, Nolan is now diagnosed with Intractable #LennoxGastautSyndrome with Status Epilepticus. He is experiencing Severe Iron Deficiency Anemia Caused by Chronic Blood Loss from his GI system of an unknown source, and he has Protein-Losing Enteropathy, Hypogammaglobulinemia, and Hypoalbuminemia. In July his hemoglobin dropped to a low of 2.3. Since then we have been working with a team of gastroenterologists and hematologists to ensure Nolan’s hemoglobin never drops to that dangerous a level again.
Nolan has been diagnosed with Cortical Visual Impairment and may never be able to see properly. He has severe Delayed Childhood Development. He is gastrostomy tube dependent. He has low growth hormone, low muscle tone, ataxia, and struggles to do basic, natural things such as adequately grow (Nolan is in the less than one percent for both weight and height) or hold up his own head. He has severe GERD, Gastrointestinal Dysmotility, and Functional Digestive Disorder. Nolan currently has atelectasis in two spots, a partially collapsed lung from numerous viruses, an unfortunate element of Nolan’s life that may become a regular occurrence. Nolan suffers from Tachypnea and Chronic Lung Disease, which requires him to receive daily Chest Physical Therapy and inhaler and nebulizer treatments. He has developed an inguinal hernia, which necessitates surgical intervention.
Nolan requires the care of pediatric neurologists, endocrinologists, a neuro-ophthalmologist, hematologists, gastroenterologists, pulmonologists, an orthopedist, physical therapists, chiropractor, occupational therapists, speech/feeding therapists, nutritionists, a Diagnostic Team, and Physical Medicine and Rehabilitation Doctor. He receives daily therapy and weekly trips to the hospital.
Through it all, Nolan continues to show uncommon strength and fight. He frequently surprises his doctors with his perseverance. He is as sweet as he is strong, and loves to be cuddled, listen to soothing music, and interact with his older brother. He has not intentionally smiled yet but he knows how to express himself through different cries and noises. He has missed some milestones, not independently rolling or crawling, but he works hard in therapy and we will never quit on him. We look forward to a future that promises newly developed medicine to help Nolan and all his KCNQ2 friends.
This year has been the most difficult of our lives, and we could not imagine going through it alone. Our family, friends, colleagues, local community, and the KCNQ2 support network are truly invaluable sources of support. The KCNQ2 parent group has helped guide us through the many needs and cares of our son. We belong to a new community that we didn’t even know existed before February 03, 2018, that now we couldn’t imagine living without.
I am a wife to a loving husband and a mother to two amazing girls (one with special needs). I love to decorate, throw parties, and cook. My mission in life is to encourage & support other women to have faith as we navigate the day to day together.
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