Joyanna's Story

Joyanna's story is quite a bit different from Philip's story. Joyanna was almost the perfect picture of health as a toddler. I could count on one hand the times she was sick before her diagnosis.

As a young toddler, she progressed normally. At the end of her third year, she was only slightly delayed verbally and needed glasses it seemed. She was given a prescription for a slight astigmatism. The glasses didn't really help. We thought that was odd. She wasn't doing well with potty training. It started to seem a bit familiar. We thought maybe Joyanna had a learning disability and we would cross that bridge when school time came for her.

On May 20, 2015, Philip was diagnosed with Late-Infantile Neuronal Ceroid Lipofuscinosis. That evening, as my husband and I read separately about the genetic disorder we both gained the sinking feeling that Joyanna was showing the early signs of the disease. Ben was away from home that evening. When he came back, we began to talk and realized that both were thinking the same thing. Joyanna might have it. We could explain away several of the symptoms. They are symptoms for other disabilities, but the vision issue was the hardest to reconcile. A vision issue not corrected by glasses or even caught by the ophthalmologist.

Philip's doctor agreed to run the enzyme test for Joyanna that would be fairly conclusive for NCL. If the enzyme was present, she did not have the disease. The results for that test returned and Joyanna had the enzyme. Her level was a low 22 (as opposed to 85-320 normal) but she had it. We rejoiced that she would be spared.

Just one month later, Joyanna had a large tonic-clonic seizure. We knew in our hearts that despite the enzyme test results, that it was likely she had NCL. She was following the same course as Philip after he turned 3. We went to the ER and she was started on seizure medication. On August 3, 2015, we received the results of the genetic testing and Joyanna is affected by NCL.

Update:
Joyanna has continued down her own path for NCL. There are some things that seem familiar to us as we compare her journey to Philip. There are some major differences. The most notable is that Joyanna is taking the first ever treatment for NCL. We heard the first news of a treatment in July of 2016 and from that time on began to follow the news as it came to us. The treatment is an infusion of the enzyme that our children are missing, infused directly into the cerebral-spinal fluid. The treatment was in the clinical trial phase at that time. Joyanna would have qualified for the clinical trial but it basically would have meant relocating our family to Columbus, Ohio; with Philip's advanced medical needs and Ben's job, we determined that was not the course of action that God had planned for us. We began to pray that if God wanted Joyanna to receive the treatment, He would bring it here to OKC. In April 2017, the drug was approved by the FDA with an expedited approval for compassionate use, being the first ever treatment for children with NCL. In a miracle 2 months, our insurance had approved one of the most expensive drugs in the world for complete coverage for 1 year. The thoughtful and diligent staff at OU Children's jumped through many hoops to make this a possibility 15 minutes from our home. Joyanna had a surgery on July 11, 2017 to place a special reservoir to receive the infusion and then the next day, July 12, she was the first child to receive the drug (outside of clinical trial) in the United States. This is a treatment, not a cure; only the CSF receives the enzyme, the rest of the body still does not have it. So far, it has not allowed children to regain what they have lost. They have only been able to maintain the skills they currently have. The hope is that through time they can re-learn what they lost—as a traumatic brain injury patient would. The best hope is that they can diagnose this soon enough that children will be able to start receiving the enzyme before they regress much at all. One of the best outcomes from the treatment has been the reduction of seizures. Every child in the clinical trial reduced their seizures some. Joyanna, too has had a reduction of seizures. We have even been able to take her off one of her seizure medications. Unfortunately, Joyanna did have what is thought to be an immune response to the drug when she first began taking it, since her body did not recognize it. She lost most all tone in her muscles, the exception being her legs. She could not hold her head up or sit up, move her arms or hands, or eat by mouth anymore. Since that response, she has gained some ground back toward her baseline. At present (July 2018), she can move her arms a little, move her head and hold it up for short periods, and has gained some strength back in her core though she still can't sit up unassisted. She lost most all her words with the immune response but is currently vocalizing more. She still tries to get out some words. She is able to go to school, is in the same classroom Philip was in, and receives most of her therapy at school. Joyanna is also helped greatly by the Bethany Children's Health Center, doing brief stays there and receiving therapy there as well. 

Update:
Due to a number of reasons (which can be found on the main blog) Joyanna stopped receiving the above-mentioned infusion treatments in December 2021 and in March 2022 Joyanna moved into Bethany Children's Health Center and will live there until she passes away. During her first months there we expected her health to go downhill, but as of September 2022 she has continued to be very stable and hasn't lost any abilities over the past 9 months since stopping the infusion. This is unexplainable so far by doctors, but we're thankful for the extra months, we can still get her to smile and laugh at things she enjoys. We're still not sure what exactly God has for Joyanna so we just allow Him to show us her path one step at a time. 

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.