Well, it's been several weeks since I have last posted. I needed a break, and thankfully we received one! Hayden only visited the allergist during the past several weeks!! We found out she has seasonal allergies and will be retested around age 5 to see if her allergies have become worse. A few days after the inhalants testing, she had what looked like a reaction to food, so we will be having some food testing done also.
Now, for the information everyone has been waiting to hear! We LOVED Dr. Kendall. She did a fantastic job of helping us understand such a complicated disease. We have a ton to learn, but we feel like we have a good start. Our appointment was at 1:30 and we were there until 3:30! She started out asking us how we ended up in her office, so we started with her basic history, which I will not rehash here since I've written it in another entry on this blog!
After we went through that, she started going through all of the testing that has been done thus far. We still believe she is likely having seizures, and will need to talk with the neurologist later to weigh the pros and cons of trying anti-seizure medication. That decision will be difficult, as most of the medications for seizures carry many bad side effects. Hayden's Neuro had mentioned she could be having seizures when she wakes up screaming and tense, so Dr. Kendall wants to try Melatonin to see if it corrects her sleep issues. If she still wakes up with the same symptoms, we will likely discuss the anti-seizure meds.
There were some significant markers in her bloodwork that would definitely point towards Mitochondrial Disease. One of the markers was that her Lactic Acid had been extremely elevated and at the same time Alanine was elevated in her Amino Acids. Dr. Kendall explained Lactic Acid alone can be an indicator of Mito, but paired with elevated Alanine makes the likelihood of a lab error small.
Dr. Kendall also noted many clinical features that point towards a Mito diagnosis. Hayden has hypotonia (low muscle tone). She also noticed that one of Hayden's legs appears to have something wrong. We aren't sure what, but she thinks one leg may be longer than the other. She has advised us to seek x-rays of her legs. She does not know how this relates to Mito, if it does at all, but it is an issue we need to deal with also. Hayden also experiences autonomic dysfunction, which includes her having trouble regulating her temperature (she described it as Hayden's thermostat is broken). She also told us she saw some "modeling" on her extremities. I can only guess that has something to do with the appearance of her skin, but can't really explain that any further. We also know she experiences extreme fatigue. Dr. Kendall said Hayden should not be pushed to the point of fatigue in any therapy/exercise, but some exercise is good for her. She also agreed that developmental delays are present. We were also referred to a gastrointerologist to do a work-up for the gastro issues she experiences. She wants to be sure there are no mal-absorption issues that are keeping her from growing normally. She is small for her age and likely not getting enough calories to help her grow. Most of these clinical features confirm what we've been told by other doctors, or what we have been thinking.
Hopefully you all can understand the above information!! Now, on to where we go from here! Dr. Kendall has already filled out the forms to start some nuclear DNA testing. I honestly have no idea how long this will take to receive results, but I know the lab that accepts our insurance will put us on a waiting list and won't even start processing any of that list until the beginning of the year. We expect the results to take quite some time. I will try to explain the DNA testing and why there is not a guarantee we will find any abnormalities right now. There are about 1500 genes that involve the mitochondria. Right now, only a handful of labs in the US are able to look at any portion of these genes, and the most they can analyze is around 500. Even if they can only look at 500, that is still a HUGE number of genes to look at. We had been under the impression that DNA testing would not begin until Dr. Kendall had a pretty good idea of which genes might be mutated, but since we are sending blood off for DNA testing, I guess she's going to go ahead and start running some of the panels. These tests are SO HARD to understand, so I can't go into it much more than that, but feel free to research in your spare time :-)
We will also have a cheek swab done soon. We should have those results sooner than the DNA work. We decided to forgo the muscle biopsy at this time, and do the cheek swab instead. I'm very hesitant to put Hayden through such a painful procedure when the results can have a 30-40% chance of being wrong. The cheek swab is a new development, but Dr. Kendall feels like there is a strong correlation between the results from muscle biopsies and cheek swab results. I believe we are using the cheek swab to help identify problems with the mitochondria as well as enzymes. Can't explain it too much further, as it seems pretty complicated! Dr. Kendall is also going to rerun some of the labwork we have already had done, not because she thinks it is wrong, but just because she wants to start monitoring the state of the disease. Hopefully the labwork will show she is stable right now!
Dr. Kendall also recommended Hayden start on the Mito cocktail. She will be taking 4 of the 5 recommended supplements. She will take CoQ10, B2 Riboflavin, Alpha Lipoic Acid, and L-Carnitine. She will not be taking creatine, as she is already high risk for kidney issues. Only 1 of the supplements is covered by insurance, so with Nana's help, we are trying to find some good prices online! We will need to figure out how to flavor them so that Hayden is able to stomach them everyday! We will also be working her diet towards a high protein, high complex carb diet and also moving her to several small meals everyday.
To sum things up, though we do not know 100% she has Mito Disease, her clinical features are sure making that appear to be the likely diagnosis. Dr. Kendall is a biochemical geneticist and will not be looking only for Mito disease. She will look for other disorders as she runs labs. We are absolutely looking forward to a more definitive diagnosis, though we understand now that even with a definitive diagnosis we may not know what Hayden's prognosis will be. We are anxious to start all of the supplements that Dr. Kendall recommended to see if Hayden experiences any improvement. We were told that some kids see some benefits, and some don't. We were also happy to hear that usually about 20% of the Mito cases are extremely severe, while the others are in the moderate to mild spectrum. We are praying that Hayden will present with a mild case! Only time will tell, and possibly a DNA test :-) We did question whether daycare would be an option for Hayden, and we were told we should really keep Hayden away from anyone that may be sick, but if daycare is our only option that we would just need to pull her out when children were sick (which would be every week!!), so no daycare, at least for a long while.
I apologize for any typos/misspellings, but my head is just spinning!!! Thank you to everyone for all of your support, encouragement, and prayers. We could not get through this with our heads on straight without each of you. Please continue to pray for Hayden and the Dr's working with her.
- Emily
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