5 Months?!

Abigail Kate is 5 months old today. Dec 21 - May 21. What a ride we've been on and we've still got quite a ways to go!

Last weekend I had the opportunity to go up to Salt Lake for that seizure Q and A forum thing hosted by primary children's. I got some questions answered and, as I expected, some other parents asked questions that I wouldn't have thought of. I realized here that Abi's condition is, even though known of, still not very common..No other child there had this same cause of seizures. Many of them had "focal point" seizures which is where the seizures are started from a specific, localized part of the brain and can be treated with surgery that removes that specific part of the brain. A lot of the time got spent on the surgery options (which is not an option for Abigail because her seizures are generalized, meaning they start from random parts all over the brain. Abi and I met the most incredible family at this event, their son was absolutely beautiful. He also has generalized seizures, but he is two (or almost 2) and they still haven't been able to diagnose the cause of his seizures. They have tried and tested about 8 medications before the ones they are one now, and despite all of these challenges they still have the best attitudes! Ironically, the mother of this amazing family is from Kanab! That's so cool to me! I got in contact with her mother (the boy's grandma) who still lives in Kanab (she is as sweet as her daughter) and hope to be able to get back in contact with the family when they come into town.
  Over all, I am very glad that I traveled up for this event and realized that Abi and I are doing good. There is not much more we can do for the seizure condition that she has and not really much more that we can know...and it could be so much worse. Right now we have the seizures under control with medication and we know everything the doctors know..this gene mutation is a relatively recent find in the medical world - which is good and bad. Not bad per say, but it just means there isn't a TON of information on it right now, but good because that means there may be more information in the future - but for now, we are in a good place. There is nothing left for us to do with the seizure side of things except keep an eye on her as she grows and adjust the medication as the time comes.  I did get to ask Dr. Sweeney some specific Abigail questions at the end and was able to show him a video that I got of these "micro-seizures" that she does several times as she is about to fall asleep. Sometimes upwards of 10 or more times which, obviously, affects her ability to fall asleep. He agreed with Dr. Larsen that they might be "myclonic jerks" - the same things that we adults do when it feels like we are falling - but they could also be "infantile spasms", which would result in a steroid treatment if they are but we would need an EEG to tell us for sure. Dr. Sweeney said "the only absolute in epilepsy is there are no absolutes". Not sure why I like that so much, but it just brought me a weird sense of comfort.

I knew I was going to stay the night up in Salt Lake so I asked my pediatrician if there was any way that he could get me in with an ENT up at primary children's (I'm so close to one of the best hospitals in the world, it  would be a shame not to get in) well, he worked his magic and called up there and an ENT was willing to squeeze me in first at 8:45 am. Thank you Dr, Meier! (pronounced like 'myer') He was wonderful, he was very to the point and seemingly intelligent. He gave her a scope -- a camera down her throat -- to see inside, and he let me watch too, so I got to see Abigail's adenoids, epiglottis, and vocal chords...how many other mom's can say that? Haha I thought it was really neat. She was telling us her opinion how she felt about the scope so I even got to see the vocal cords in action! He did confirm that she does indeed have laryngo-malacia. He says all the symptoms are classic (that's a first), but severe (there it is-Abi keeping it AbiNormal). He says there may be some more damage or something more severe in the trachea, but it's doubtful because of how classic the symptoms are. There is a possible surgery option with this condition, but that is dependent on other factors such as: if this condition is affecting her ability to sleep well or affecting her ability to gain weight then we would go in and surgically remove the extra tissue hanging out in the larynx-if we don't see the need for surgery then she will just outgrow this by the age of 2.  If we did get the surgery it would allow her to breath more easily and probably cause a rapid weight gain as not as much energy needs to be spent on breathing anymore. I wonder if that goes along with her "floppyness" also? Like so much energy is going to breathing that she just doesn't have enough to gain weight and supply energy to her muscles too? IDK. We will know in about a month if she will need surgery or not. We put her on reflux medicine - Dr. Meier and Dr. Larsen both seem to agree that she still has reflux really badly which is attributing to her lack of weight gain - Dr. Meier  informed me that reflux and malacia go hand in hand and actually may be a vicious cycle - kinda like a chicken and the egg - so with this malacia, Abigail likes to hold her head way back to kinda open the airway a little bit, which also opens the esophagus, allowing reflux to happen more easliy. And then reflux perpetuates and kinda intensifies malacia - rather frustrating. So we increased her type and dose of reflux medicine and will wait to see if that helps her gain some weight. We will also do a sleep study at the beginning of June sometime to determine if this condition is affecting her ability to sleep. If either she does not gain weight, or her sleep is affected then we will look more closely at surgery, but until now we just wait. What is wonderful though is that this sleep study will come with an EEG so we will use that to double as the EEG to determine if these "jerks" she does while falling asleep are just normal body twitches or "neonatal spasms" so that is awesome. But I walked out of the ENT office very positively with a lot of good information. I like visits like that.

Overall - GREAT visit to salt lake.

Until next time-
This is AbiNormal