The night I took Sonzee to the ER Sam was out playing ice hockey. I could not get a hold of him, so instead I called my neighbor who sent her son rushing over to stay with the other kids (she was out) so I could leave. I googled less than 5 times "seizures in one month old baby" because the only things that showed up were not good. I remember reading there could be genetic reasons but I quickly brushed those off because of course that was not the case. I also remember the words "infantile spasms" (IS). I remember reading the average age when they start was around 4-6 months, but they could start as early as one month. I remember reading that the prognosis for typical development was poor. I remember that the spasms themselves can also be damaging to the brain if left untreated. I remember being extremely petrified of Sonzee being diagnosed with these.
I must have asked the neurologist on staff at least twice a day each day during rounds if she thought Sonzee was presenting with Infantile Spasms. I remember feeling slightly at ease each time she said, "right now, it does not appear that she has spasms, however, that is not to say that she won't ever". Each day that passed with Sonzee not exhibiting spasms was a day to be celebrated. When she had her stay in June at Phoenix Children's Hospital, we had a little bit of a scare that the spasms were present. Topamax has been known to be somewhat effective in the treatment of IS, so that is when we agreed to increase her dose. Each twitch her body made was another video sent to her neurologist. Each week she slept a little more than usual resulted in an outpatient EEG to do a quick check to make sure the EEG background was still normal and spasms were not present. While children who do not have CDKL5 typically have IS start between 4-6 months and 1 year, kiddos with CDKL5 are not typically in the clear until they are around two. Some of children with CDKL5 present with the actual hypsarrythmia /IS, others just the clinical presentation of the spasms but their background remains "normal". As all parents would, we have always hoped and prayed that Sonzee would be part of the latter.
I assure you the presentation of "infantile spasms" are just as scary as you might imagine. I can also assure you that the treatments for spasms if you can imagine are even scarier. Please do not get me wrong, we have options, if you consider choosing to be hit by a bus or a truck while crossing the street actual options. Children have died during the two main treatments, children have become blind on a drug used specifically for that treatment, and children have suffered from other unpleasant side effects all while trying to get rid of these nasty spasms and the abnormal brain activity that is simultaneously present. The thing about the treatments is that they are not even fail proof. Many children require multiple attempts, and many children finish their attempts unsuccessful. However, no matter the side effects, you HAVE to at least try to treat the spasms because not treating them is just as detrimental.
For the past 11 months, Sam and I have lived in fear of these nasty spasms. We naively felt that we could outsmart these spasms, that we were somehow doing something miraculous that would keep these beasts away. While we do believe the Topamax was playing a role in the dampening of the presentation of the spasms, the drugs awful side effects were starting to take their toll on Sonze, and so we had to wean her. Besides her little wean setback, it has also become evident that Sonzee is not going to be part of the kiddos with CDKL5 who avoid these spasms. It looks like all we were doing was just postponing the inevitable. These spasms are unavoidable, for Sonze at least.
The last two days alone she has had at least 12 separate clusters of 3-4 spasms at a time. We believe the reason our neurologist is holding off on the EEG is to buy us some time on the ketogenic diet in the hopes that it will do the trick. She knows our feelings regarding the stronger treatment options and she has been supportive with pushing them off. We need the diet to work its wonders. After a month on the diet, Sonzee will have an EEG to check her background and to see if the spasms are present along with hypsarrythmia. If there is hypsarrythmia/spasms present, she will be weaned from the diet to begin a different IS treatment option. You can read here to learn more about prednisolone and ACTH. We have mentally agreed to the prednisolone vs ACTH treatment for Sonzee.
I hope over the next 4-6 weeks, we will be successful with fattening the bear up with the addition of the gtube as well as controlling her spasms with the ketogenic diet. Even though eventually it will be wrong, my mommy gut says that if Sonzee has to endure either of those other treatments, her little body will not be able to withstand either.
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