Several months back Dr. Herren had asked us if she could send for some further chromosomal testing. We were fine with it and Philip had the necessary blood drawn. What his doctor didn't tell us at that meeting is that Philip's symptoms, which have always been unexplainable, were beginning to form a pattern in her mind of a disease she had only seen once before during her medical internship in Dallas. The name of the disease she suspected was Neuronal Ceroid Lipofuscinosis (NCL).
Two weeks ago Dr Herren got the results that confirmed her suspicion and then she collaborated with Philip's geneticist doctor about the results. Of the four general kinds of NCL, more than likely Philip has the one labeled as "Late Infantile NCL". They will send for a confirmation test, but since the first test came back positive and Philip's symptoms line up almost exactly, it is more a formality than anything. So, Philip actually has a diagnosis now. On to the worse news about how that diagnosis affects Philip...
LINCL is a neurodegenerative disease that essentially causes a buildup of fat in the neurons and retina. It causes eyesight to diminish and eventually blindness. It also causes damage to the brain cells resulting in uncontrollable seizures and permanent cognitive and psychological damage. Generally the type of NCL that Philip has results in death at a maximum age of 8-12 years old. There is no treatment for NCL other than treat the symptoms of seizures and basically provide quality of life care. Physical and Occupational therapy can help individuals retain control for a little longer but ultimately the brain damage will render therapy useless.
Most of Philip’s issues seem to be stemming from this diagnosis. The reason it has taken so long to diagnose Philip with this disease is because of the Hydrocephalous which can also cause seizures and vision loss, but we now know that is completely unrelated.
This news did not take us completely by surprise. Becca and I have seen God almost preparing us for this news and we have had a talk with some of our family about our suspicions that Philip would not live past 10 years old. Two weeks ago when Dr. Herren got the results of the testing she knew that it was not good news and began to pray that God would help Becca and I to know and be prepared. Dr. Herren said that the fact that Becca and I have talked about it and even talked to some family about it is a direct answer to her prayer, even though we had no way of knowing what she was going to tell us.
But from here it gets worse. This disease is genetic. Without going into a detailed description of genetics, suffice it to say that, since Philip has been diagnosed with NCL, each of our other kids has a 1 in 4 chance of having the disease as well.
We will have both Joyanna and Ethan tested for the disease but it could take months to get the results back. Usually we don’t give out information until we have test results back, but for some reason, in this situation, Becca and I both feel the need to let those of you who love and pray for our family know our concerns.
The early signs of the disease are speech delays, vision issues and seizures. Becca and I have talked periodically for the last year about Joyanna having some speech delays. While she has been improving, and sang her first full song by herself last week, she is still behind what a 3 year old should be. We had assumed this had to do with being the second child with a big brother who was not a typical big brother. However, with the information we learned yesterday, it is a big red flag that she may have NCL. Second, she got glasses a few months back and while they have helped some, there are still some vision issues that the glasses have not fixed. For a simple astigmatism issue the glasses should have fixed the issue. Combined with the speech delay, the continued vision issues make us even more concerned. Third, Becca and I have both independently noticed incidents with Joyanna that almost seem to be seizure-like. They have been few enough and we have been unsure enough ourselves that we did not even talk about them to each other until last night, but we have both been observing Joyanna and seen them over the last 2 months. Combine the speech and vision issues with the seizure-type incidents and we have a very real cause for concern. Joyanna has not been diagnosed with NCL, but she will be seeing Philip’s doctor very soon to get tested because of our concerns and the likelihood of this disease striking twice in the same family. If Joyanna does have the disease, it will run its course and she will follow a similar downward regression to what Philip has experienced. Since she is far more advanced than Philip ever was physically and cognitively it would be much harder for us to watch.
God is in control, and Becca and I have repeatedly seen his hand in our lives and our family’s life. This did not come as a surprise to Him. Our prayer right now is that Joyanna would not have the disease, or if she does that God will give us the grace to care for two special needs children. Secondly our prayer is that Ethan will not have the disease—there are a few encouraging signs to us that he does not have the disease and our biggest concern right now is Joyanna.
Pray with us if you will as God leads you. At this point it is hard to know how to pray, but God is able to give strength and grace for each situation.
We read the story of another family whose children have NCL at Noah's Hope. If you want to see the perspective of someone already dealing with this disease you can visit and read their story.