Well, wouldnt you know it? It took me till Christmas to find the time to add an update but so much has transpired over the last two months that I want to get this added while I can. Where do I begin?
On the Monday after Thanksgiving, we had an appointment with the pulmonologist/sleep specialist. We discussed the results from the sleep study we did with Lydon earlier in the year. He had several apnea episodes and some desaturations where it took him several minutes to recover. We also talked about how he has been doing lately. Of late, Lydon has had some weird sleep/wake patterns, he gets very short of breath with little exertion and frequently ends up vomiting. This is a direct result of his energy deficit. So, we agreed that the best thing to do was to start him on some low dose oxygen at night and see if that helps at all. We worked and got him adjusted to the pulse ox after the first several days. The oxygen wasn't quiet so easy. He protested the mask and the nasal cannula and made it very clear that neither would be his choice! But, every once and a while, Mommy can be even more stubborn than the lil tough guy. So, I persisted (Sissy helped) and we won! He's been a trooper. He is now sleeping every night with his pulse ox on his toe (AKA His rudolph toe) and his super-hero super power AKA (His nasal cannula). We have struggled with this decision emotionally but we understand that it is something that helps him not have to work as hard physically to keep up with the metabolic demands of his body especially when he is sleeping and needs the extra rest.
Our next appointment was unexpected. The neurologist we met with last month called me in to discuss the results from the Mitochondrial labs we sent off back in JUNE!! Yes, it really took almost six months to get these results and this is considered normal for this test! He was not seeing pt.'s that day but he came in to the office just to sit and discuss everything with me. I told him that we were planning to follow up with him in January but he said that he didn't want for me to wait any longer! What a sweetheart and how blessed we are to have him on our team. He talked with me about a couple of dominant genes that came up. He explained we (Jonathan and I) needed to do some blood tests to be absolutely positive but regardless he didnt feel that either of these two genes were responible for any of Ly's issues. On the other hand, he had six other genes that were reported and all of them were mito/metabolic in nature. He told me that from a neurologist's point of view these were very significant because three of them go hand in hand with each other and all of them go along with Lydons clinical symptoms. He said that he had researched all of the genes that were listed on the report and reviewed their significance in the body's energy making process in addition to reviewing all of Lydon's history. He said that he thought we should draw another lab test to be positive but he felt confident in saying that this was all indicative of the mitochondrial disease MINGIE's. What??? Even though I knew I was there to discuss these results and I knew that he had called me in unexpectedly, I was shocked and taken by suprise when I heard him say this. I didn't know whether to laugh, cry, or throw up. I mean after all, we have been waiting for over two years for an answer or explanation for Lydon's issues. We have had to fight for Lydon's safety several times because we didn't have a definite answer or diagnosis. But still, hearing something so concrete about my boy kind of felt like my stomach got pushed against my backbone. We talked for a very long time. I was overwhelmed with the extent of his knowledge and patience and willingness to talk to me until all of my questions were answered. I left feeling overwhelmed with what all I had heard but also very relieved to have more of an answer at the same time. He wrote an order for some labs that we will have drawn when we go in for his EEG in January. We talked a lot about his dysautomia. Dysautonomia is a malfunction of the autnomic nervous system. The ANS is what regulates all of our unconscious systems of our body like our heart, stomach, endocrine and metabolic systems. We believe Lydon is having these issues because of the diseased mitochondria in his body that causes his brain to not receive the total amount of energy it needs. This is causing Lydon to have some fluctuations with his blood pressure, pulse, oxygen level and of course his GI system as well. There is a cardiologist at UT who is one of the only doctors in the area who specializes in dysautonomia. So, we are going to make the necessary arrangements to get with him to do a couple of specialized tests. I will post an update after we get all of this done.
So, for now that is the latest medical update. Let's hope this is the last one for this year! Lydon seems to be doing very well, all things considered. He is a happy stable growing little boy. Tonight, my heart is full. I am so very thankful that all three of my sweet babies are asleep in their own beds and we are not in the hospital. We spent the majority of last December in-patient. I promise to try to post some pictures in my next post if I can get the time to compose another one! ;) Merry Christmas!!