Philip Nathanael Logue December 17, 2009-August 25, 2018
Philip was born December 17, 2009. At 3 1/2 months, Philip was diagnosed with hydrocephalus, a condition that allows cerebro-spinal fluid to build up within the skull. He had a VP shunt placed to drain that fluid in April 2010, recovered fully, and the shunt did its job. For three years, we experienced life with a growing, learning toddler with no medical issues beyond the normal childhood illnesses. He had some delays in development (verbal mostly) but nothing we felt was significant enough not to overcome.
In March of 2013, Philip was evaluated for speech and then occupational therapy. He seemed to be lagging behind more in his milestones. The speech therapist helped us notice Philip seemed to have some vision problems. He was evaluated by an ophthalmologist and started wearing glasses. Before we could even start his speech and occupational therapy sessions, we began to notice small twitches. They lasted maybe 3 seconds at the longest. We couldn't even be sure what they were. Over a few days though, we began to notice more and they were getting longer. I began to keep a log of these incidents.
Then, on Saturday, April 6, Philip had his first convulsive seizure. We went to the ER and Philip was diagnosed with epilepsy and started taking seizure medication. The goal was to control the seizures but the next several months would show that was more challenging than we thought. In the meantime, Philip was diagnosed with autism and intellectual disability. He was losing cognitive skills and beginning to lose motor skills. We couldn't get the seizures under control and contributed the regression to this. We continued on a search for seizure control.
By November 2013, Philip was falling down often and unable to walk very well. He wore a helmet consistently and was losing many of the words he had learned to say. He started a half-day preschool through OKC public schools at the end of the 2013-2014 school year. The public school provided therapy Philip needed as he struggled to walk and was losing other motor function.
By this time, Philip had failed 6 seizure medications (meaning they didn't control seizures) and it wasn't likely medicine alone would control the seizures. We started researching the ketogenic diet, a very effective treatment for children with uncontrolled epilepsy. In July 2014, we started Philip on the ketogenic diet at Children's Medical Center in Dallas, TX. We had high hopes for seizure control through the diet but it was not to be. We decreased some of Philip's seizures but he still had hundreds of small seizures daily.
In February of 2015, Philip's epileptologist started thinking through Philip's signs and symptoms and ordered a genetic test to be run. In May of 2015, she received the results of these tests and finally had an answer. We found out May 20, 2015 what God had known all along. Ben and I are both carriers of a recessive gene; we had no idea. No one in our family has ever had issues like Philip. Philip received both copies of our recessive genes and was diagnosed with Late-Infantile Neuronal Ceroid Lipofuscinosis. Unfortunately, hydrocephalus has nothing to do with NCL so that diagnosis had thrown off this diagnosis.
Update (July 2018) Philip has continued down the NCL pathway written for him. Philip was not able to go to school after the 2016-2017 school year. Because his medical needs were growing beyond our care, the Lord allowed us to have part-time nursing care (8 hours a day) to help with Philip for 6 months in 2017. We kept him home and cared for him ourselves as long as we felt that was safe for him. In December of 2017, just after his 8th birthday, we moved him into The Children's Center Rehabilitation Hopsital (now Bethany Children's Health Center) in the OKC metro. This special hospital has an in-patient population comprised of children with complex medical conditions. There Philip can get the 24-hour care he really needs now. It is only 10 minutes from our house. He has continued to decline so that now he is in an unresponsive state. Because cognitive decline is also part of the progression, we believe his understanding would be that of a newborn--things that are familiar are comforting though he wouldn't understand why. It is hard to tell though because Philip can no longer communicate. We do believe that he can still hear so we keep his favorite music playing at his bed 24/7. When he is awake he is constantly moving (tremor, seizure, chorea, myoclonus, spasticity) but we believe God's special grace for Philip is that when he is sleeping, he is calm and resting. Because of this, we have communicated to the doctors that we want to be aggressive at keeping Philip as comfortable as possible and thus, the medicines that he takes keep him asleep most of the time. This takes constant adjustment of medicines because it seems obvious now that the progression is moving more quickly. When we came to this realization, we began to pray that in God's time, he would release Philip from this broken body to be free and perfect in heaven. Please pray for grace for our strong boy and perfect freedom in God's time.
Update (September 2018) Through God's leading, we chose to discontinue Philip's pulmonary treatments on Thursday, August 23, 2018 because they caused him so much discomfort. In just over 24 hours, it was clear that his organs were shutting down and it was God's time to give him that perfect freedom. He passed away peacefully at 3 am on Saturday, August 25, 2018 at Bethany Children's Health Center. Though he was surrounded by family and friends all of Friday, Becca was the only one with him when he took his last breath on this earth and instantly became perfectly whole in the presence of God.
This has already been a long journey but we have many more miles to walk in it. The peace we received when we learned the diagnosis was that, for whatever reason, God's purpose for Philip has always involved NCL. He knew from the moment he was conceived. It's not what we would have chosen but God's grace and peace have been very real to us and we are assured grace and peace will continue to be our constant companions.
You can read more about NCL in the panel to the right or watch the memorial service for Philip below.
What is Late-Infantile Neuronal Ceroid Lipofuscinosis?
Late-Infantile Neuronal Ceroid Lipofuscinosis (NCL or LINCL) is an inherited genetic neuro-degenerative disorder that primarily affects the nervous system. The signs and symptoms of this condition typically begin in late infancy or early childhood. The initial symptoms usually include recurrent seizures (epilepsy) and difficulty coordinating movements (ataxia). Affected children also develop muscle twitches (myoclonus) and vision impairment eventually resulting in complete loss of vision. LINCL affects motor skills, such as sitting and walking, and speech development. This condition also causes the loss of previously acquired skills (developmental regression), progressive intellectual disability, and behavioral problems.
How common is LINCL?
The prevalence of LINCL is unknown. Collectively, all 8 forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500 individuals are affected. As best we have been able to find out, there are about 300 cases of LINCL in the United States and less than 4 cases in Oklahoma (2 of which were/are Philip and Joyanna). That makes it just over a 1-in-a-million chance.
What genes are related to LINCL?
Mutations in the TPP1 gene cause most cases of LINCL. The TPP1 gene produces an enzyme that is found in cell structures and is essential to digest and recycle different types of molecules. In late-infantile NCL, the absence of this enzyme results in the buildup of lipopigments in cells throughout the body; neurons seem particularly vulnerable to damage caused by lipopigments. The progressive death of cells in the brain and other tissues leads to the signs and symptoms of LINCL.
What is the life expectancy of LINCL?
The late-infantile variant of NCL usually manifests between 2 and 4 years of age with seizures and deterioration of vision. The average life expectancy for LINCL is 8–12 years.
How do people inherit LINCL?
The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene which they pass on to the affected child. Typically the parents do not show signs and symptoms of the condition.