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August/September Update

My lack of posting lately is a direct reflection of how much of my life is consumed with taking care of children (and their various needs) in one capacity or another. I am certainly not complaining about that. If there is anything that I have gained in the past 6 weeks, it is a deep (or deeper) gratitude for the privilege of having and raising my children, and being able to make decisions about how to take care of them and raise them without having to ask permission from multiple other parties. It's hard to comprehend just what a privilege that is until you see that privilege taken away from someone you know. Being involved in the capacity that we are involved in has been an eye opening experience in many ways and I can't believe how frustrating it all is. We are being kept in the dark about so much, but yet so much is being expected and asked of us. We are grateful to be able to help in an incredibly difficult situation, but this is so hard. Vagueness is one of my biggest pet peeves but we don't have a choice, so vagueness is the best I can do. Today has been exhausting in every way, and I know it is by the grace of God that I am somehow managing to keep my head above water with all of the appointments on our calendar right now.

I do have an update about the genetic labs. FINALLY. It was maddening being kept waiting as long as we were kept waiting for those results, and then to have the doctor get all snippy with me when I finally got in touch with him was just too much for me. As I had predicted, the results that were mysteriously dangled in front of us for over a month were another one of those, "Well, we found this abnormality but we don't know if it's significant or not." Raya has a mutation in a gene called the PNKD gene. PNKD stands for paroxysmal nonkinesigenic dyskinesia, which is a movement disorder that causes episodes that look like seizures. Raya has never had any episodes like that, but the lab has collected data showing that a lot of people with the same PKND gene anomaly Raya has also have gastroparesis, so there may be some link there. The next step is going to be doing parental testing. This is where I get frustrated. They tell us that if either of us has the same mutation, it means Raya's is not significant. I don't understand that. They say it's because neither of us has the same symptoms as Raya. The reason that frustrates me is that I have a family member on my side who has gastroparesis and visceral hyperalgesia like Raya, and another family member who is strongly suspected of actually having PKND. I have never had symptoms to the severity of Raya's, but I have had some GI issues that are similar, as have all of our girls. To me, that seems to suggest that there is something familial there but what do I know, right? For now, at least we have gotten the results and aren't being held in suspense anymore. We got the parental testing kits in the mail so now we need to spit in the test tubes and send them back and wait to see what they say.

The entire month of August and into September has been a marathon of appointments. Mostly for Raya. She saw her GI doctor a couple weeks ago for the first time in about 4 months. I think it was one of the longest stretches we've gone without seeing her. Unfortunately, Raya has had some troubling symptoms recently and since it's been over 2 1/2 years since her last endoscopy, her GI decided it's time to do another one. She has been having trouble swallowing, and she clears her throat constantly. As much as I don't want another diagnosis added to her list, when there are symptoms like increased dysphagia and constant throat clearing going on, I really hope she finds something so that we can figure out how to help her. I know she'll be looking for eosinophils and of course I don't want Raya to have eosinophilic esophagitis, but we have been questioning for 5 years if she has it or not and if she does, it would sure be nice to know so we could actually treat it. I'm tired of guessing, and experimenting with treatments. She has been doing so well with the variety of foods she's been eating that it makes me sad to think that we might have to take any of them away, but if it would help her feel better and be able to swallow better, then I just want to know if that's what we need to do.

We saw the allergist today and he agreed that an EGD is a good idea based on her current symptoms. We talked about a few more foods to add into her diet but agreed that it would be best to do IgE labs for those foods while she's under for the EGD and then start trialing them afterward. I don't expect anything abnormal from the IgE labs because even the foods we know she's allergic to have never come up positive on the bloodwork but we may as well try it.

Last week, Raya's name finally came up on the waiting list for the child psychologist we've been waiting to see. I put her name on the waiting list in late December or early January, so it's been 9 months of waiting to see this lady. Had I not been so overwhelmed trying to keep up with everything else, I would have tried to find someone else, but it got put on the back burner so we just waited. Our GI doctor recommended her because she's worked with a lot of chronic GI kids and she felt like it would be a good fit for Raya. After having our initial evaluation with her, I feel good about working with her and I think she will be able to give us some good tools for helping Raya. She feels that what we are dealing with may be ADHD. The plan is to start by coming up with a behavior plan and see what else we find out from all the testing we have going on. Chronic GI issues and sleep difficulties definitely play a role in the problems we are having, and I know kindergarten has been a hard adjustment. She is doing great at school, both academically and behaviorally. Her teacher even sent home a really nice note last week about how sweet and funny Raya is and how much she loves having her in class. The problem is that Raya is really good at holding herself together while she's at school, and then she falls apart when she gets home. Even with the continued use of her sleep medication, she is waking up really tired in the mornings and she just hasn't been quite herself. We are scrambling to do as much as we can before her 6th birthday, because we were informed over the summer that she is probably going to lose her DDD eligibility (meaning no more therapies) and her secondary insurance through the state, which would mean not only losing the insurance coverage but also the respite and habilitation hours. We will be appealing the denial and trying to reapply for the insurance part at the very least, but in the mean time, we're trying to take full advantage of everything she does have while she has it.

There's so much more going on that I haven't even scratched the surface, but much of it is not mine to tell other than to say that I am exhausted and overwhelmed right now. I just counted, and in the last 6 weeks, we have had 29 medical appointments. 'Nuff said. I'm looking forward to seeing neuro next week to go over all the tests she ordered, and especially the sleep study.


  1. I'm glad you finally got results back from the genetics people. Crazy coincidence I've been following your blog for a while now because my kiddo and her feeding problems but, I actually have PNKD. I got diagnosed when I was like 11 or 12.


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