Saturday night thoughts.

Patrick is doing well. He is adjusting to his new schedule of feedings and he seems to really have a spark back in his eyes that I'd almost forgotten. It's a very becoming look on him!

Also he started a speech therapy program called vitalstim which is a stimulation of his throat muscles. It should help him retain some swallow skill despite the fact he doesn't swallow food regularly. This is particularly helpful with regular secretions but an ultimate goal is to get him strong enough to go back to safe tasting. The therapist was very pleased with what he tolerates on his first treatment.

Jocelyn is hanging in like a trooper. She really admitted to me this week that she understands this is Mito but she just doesn't want it to be. I'm proud of her for facing that fact. Recently I have noticed people making a remark about her and while it may be true I wonder what she hears when it is spoken to her. It goes a bit like this J:I have to look at my schedule. Other Person: that's a very big word for such a little girl.

Now that's true. Jocelyn has a dynamic vocabulary full of words she learned from her dad and I, who take some pride in that, and from the medical community we have been unfortunately immersed in since before she can remember. Little lady, don't let anyone tell you that you are too small for a word. How we use words is an important part of our society, and if a six year old can tell you about her schedule or name her brother's rare disease that you've never heard of, well that's not a problem to anyone in our house.

We are doing our best to live out hope in front of Jocelyn, but we are not lying to her, nor could we. It is clear that Patrick is not doing what her friends' babies are and she needs an explanation for that. I guess we all do. So we aren't lying or sugar coating it and she might tell you about it. And if she does please dont brush her off because it sounds ridiculous for a little girl to talk like that. If you really listen I think you'll be impressed with her resilience.

What's new

Between all the birthday partying, we've had several appointments and there's some things to share.

It's so hard to know what to share first, so I'm just going to take a stab at it. Patrick is no longer taking food by mouth. Two weekends ago we had to Heimlich Patrick 3 times out of the 6 meals he ate. We felt like that was excessive and also extremely scary. So we talked to the GI doctor and also our regular pediatrician and we all agreed. So we are feeding him through the tube entirely now. It's hard and scary, but so is needing to save his life every other meal.

We got the results from Patrick's EEG back and it showed an overall slowing of the brain, which is an indicator for seizures. The episodes that Patrick had during the study (and has regularly at home) are not seizures but called a "myoclonic jerk." These vary in severity and only the big ones seem to bother him. I've studied a bit about these, and they are akin to a hiccup, except all over his body instead of just in the diaphram. He remains on the seizure medicine as a precaution for the seizures and also because that's the therapy for the jerks. We still see many of these jerks a day, but the only other option would be to increase the dose of the medicine which will heavily sedate him. That is not a goal for us.

Another thing the neurologist told us is that the genetic testing has come back. The test shows an autosomal genetic defect (2 recessive genes that are defective). There is a likely mutation on a gene that is the reason Patrick is presenting with these symptoms. The knowledge of this gene mutation actually changes nothing for what we know about Patrick and what predictions have been made about his future. It does however have some implications.

First a little lesson on genetics. Recessive genes only show if there is no dominant gene to “overtake” it. Therefore, it is possible for a recessive gene to be passed on for generations without it ever presenting. This becomes increasingly true with truly rare recessive genes. We know that Patrick was passed 2 recessive genes, one is known pathogenic and the 2^nd is possibly pathogenic and these are paired. Pathogenic simply means that it is disease causing. At this point, the geneticist assumes that Brian and I are both recessive carriers of this gene, and both are being considered pathogenic. With this assumption every child we have has a 25% chance of receiving the recessive gene from both parents and showing symptoms, a 50 % chance of carrying one of the recessive genes from one parent showing no symptoms, or 25% chance of receiving the recessive gene from neither of us (this child gets a dominant gene from both parents). If insurance will cover the cost of the testing we have decided to do this. Mainly to contribute to the research community for Mito.

Since one of the passed genes is pathogenic, and the other is a mutation of unknown effect, the neuro team would like Brian and I to both be tested. If we test the same strand and find both genes that were passed we could help them upgrade the understanding of the gene of unknown effect to likely pathogenic. This data would help the Mitochondrial world tremendously. Results should be much shorter turnaround time and the neuro team seemed sure that we would have a much better response this time from insurance. Brian and I have decided, assuming we can get insurance or other methods to pay for the costs, we will have the test done. Jocelyn , having no symptoms, will not be tested until she chooses to do so as as an adult, but if Brian and I were to not get this finalized we don’t know if one of the genes she may have is pathogenic or not.

So that's a lot to process and we have taken some time do just that before we put the information here, so please know that we are okay. Maybe we are struggling a bit, but we were doing that before this information came to light.

Our love, 

The Wethingtons