Becca and I went up to his school on Monday morning since I had not been to the school or met his new teacher. We had a good chat with his new teacher and I think it will be a good option for him this year, or for as long as he is able to attend school.
While we were at the school visiting with Philip’s teacher, I got a call from OU genetics that they had gotten the results from the genetic testing for Joyanna and Ethan. We had already agreed that they would give me the results over the phone but they really wanted us to go up there and talk over the results with them in the office. Since Philip was in school and Joyanna and Ethan were already with a babysitter, we decided to go up there from the school.
Basically the genetic results confirmed what we kind of already knew. Becca and I are both carriers of the same recessive gene which produces NCL, but because we both have a good gene we are not affected by carrying the one recessive gene. Philip received both of the recessive genes from us and that has been the reason for the NCL diagnosis for him. The results we got on Monday indicated that Joyanna also received both of the recessive genes from us which means that she also has NCL. This did not come as a surprise to us since we had already seen the symptoms and because of the seizures that have presented over the past couple weeks. While we had hoped that the outcome would be different we realize that this diagnosis does not change the fact that God is still in control, that He will work out His plan and that this diagnosis is part of that plan. Outside of a supernatural intervention by God, Joyanna will follow a similar path that we have seen Philip go over the past 2 years. Everyone is unique though and her path will be slightly different but the end result will be the same.
While we are saddened by the diagnosis for Joyanna, we are rejoicing over confirmation on Monday that Ethan does not have NCL (he is a carrier of one recessive gene like Becca and I, but since he had one good gene, he does not have NCL). This is what we had prayed for and hoped for and it is a blessing to see God spare Ethan from that path.
On Tuesday, late in the afternoon, Becca got one call and made one call for scheduling two different appointments. One was to schedule an appointment with the gastroenterologist who would be able to make a decision on the best course of action regarding getting Philip a feeding tube. The appointment options were mid-October or the next morning (Wednesday) because of a cancellation. Becca quickly accepted the appointment on Wednesday morning.
The second call was to schedule an EEG for Joyanna to help with monitoring seizure activity. Usually they schedule about a month or so out, but there just happened to be an opening on Thursday morning because of another cancellation. Becca quickly accepted the sooner appointment. It has been a huge blessing to live only about 15 minutes from the hospital and doctors that have overseen almost all of Philip and Joyanna’s care. Also it is a blessing that Heartland allows me to be very flexible to attend appointments—sometimes on short notice. Those are just two more evidences of God’s hand preparing us even before any of the issues showed up.
Wednesday morning we went to Philip’s GI appointment. We met with the doctor and after talking through the need for a feeding tube and the options, she made the statement, “Why don’t we see if we can work on getting him in on August 18.” We were quite shocked that it would happen so quick, but it is a huge blessing. It is hard to describe the increasing issue it has become to get enough calories and fluids into Philip. The feeding tube will take a lot of the guesswork out of that and free up Becca, both mentally and physically, to be able to focus on other interaction with Philip that she hasn’t been able to have for a while since it takes so long to feed him.
So, Philip is scheduled for surgery on August 18 to have the feeding tube placed. He will go in in the morning and they will place the tube and then admit him to the hospital overnight. If everything goes well he will get to come home on the 19th. We can give more details about the feeding tube and how that will change our lives, but that can wait for a future post. It is just a blessing that we will not have to wait until the middle of October to get the process started.
This morning, Thursday, we took Joyanna in for her first EEG. They hook up about 30 wires to the head and monitor brainwaves for about 20-30 minutes to watch for seizure activity. Because this is her first and because her seizures are mostly under control, this particular EEG will probably more set a baseline to observe changes in seizure activity as time goes on. We have had one more tonic-clonic seizure with Joyanna since our last post and have continued to see some small ones here and there. We are currently increasing dosage of her medicine to gain more control.
That is where we are as of right now. Tomorrow Philip has an appointment with nephrology to discuss some concerns we have had about kidney stones or something of the sort.
Makes for a lot of appointments in one week, but it is a blessing that we were able to get a couple of them in now, when usually they schedule a lot further out.
How to pray: God had taken care of us in a very real way and we are really wanting for nothing materially, but we certainly appreciate and covet your prayers for the peace of God in our hearts that His way is the best way and the right way (just like it has always been). We know that in our heads, but sometimes it is harder to remember on a day to day basis in the middle of workings of God that you don’t always understand. Pray for seizure control for Joyanna with the least amount of side effects from medicine and with that, wisdom for the right medicine. Pray for Philip to sleep well at night and not lose weight over these last two weeks before the feeding tube.