Diagnosis
Let's start this story back in March. Alayna got a new bed. The first night she slept on the top bunk I was awakened by the bed banging against the wall. I rushed into her room to see what she was doing. What I witnessed was terrifying. She was having a seizure but at that point in time I didn't think anything about it...chalking it up to a really bad dream. I told myself I would keep it in the back of my mind. In June when we went to Manti (our last blog post) and I had the privilege of sleeping next to her she had at least 6 seizures that Josh and I witnessed in those 7 days. We called her doctor to schedule an appointment as soon as we got back into town. They got us in pretty quick. The PA listened to our story and it almost felt like she didn't believe us with what was going on. She did however order a CT scan and a sleep deprived EEG. The CT scan was done at Teton Radiology and the EEG was done at Eastern Idaho Regional Medical Center. We had those results pretty quickly. Her doctors office then called us and said that her results came back abnormal for her EEG and that we needed to push a rush on getting an MRI for her. They scheduled the MRI for the next day at Mountain View Hospital. She didn't like that she was having all these tests done but the nurses were all great to explain what was happening. The MRI was probably the most stressful because she had to hold perfectly still for a lot longer than previous tests. She refused to let go of my hand for the MRI so in we went together. I think it was scary because by this point we knew there was something that was happening to her little body. We had noticed many small symptoms that all go along with her seizures but kind of wrote them off part of her age. The biggest change was her personality. We jokingly called her our devil child. She would tell us she hates us and wanted us all to die. She would run away and say she wanted to get hit by a car, she went after Kaytlin with a knife saying she should die. We were all a bit scared of her and the things she would tell us. We then had a follow up with her doctor. He told us he was referring us to Primary Children's Hospital in Utah but that because she was on Idaho Medicaid we had to wait on pre-approval. I asked what we needed to do in the mean time and without missing a beat he told us that we needed to keep everyone alive. Ha really funny doctor but so true in the circumstances we were facing. We waited for that appointment in Utah for a few weeks with us calling and trying to figure out what the hold up was. We finally figured out there was a problem with Medicaid and got that rectified pretty quickly. We had already planned on going to Utah to attend Josh's cousins wife's funeral when Primary Children's called to schedule her appointment so we were able to do both on our trip down there. We rehashed all the symptoms, behavior, and mood issues with the neurologist. We then had to describe her seizures in great detail with the neurologist several times over. After all was said and done and the doctor had looked over all her test results she was diagnosed with:
Autosomal dominant nocturnal frontal epilepsy (ADNFLE)
This effects her right hemispheric and left frontal brain lobes.
So far this is all we know about what is going on.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day.
The seizures characteristic of ADNFLE tend to occur in clusters, with each one lasting from a few seconds to a few minutes. Some people have mild seizures that simply cause them to wake up from sleep. Others have more severe episodes that can include sudden, repetitive movements such as flinging or throwing motions of the arms and bicycling movements of the legs. The person may get out of bed and wander around, which can be mistaken for sleepwalking. The person may also cry out or make moaning, gasping, or grunting sounds. These episodes are sometimes misdiagnosed as nightmares, night terrors, or panic attacks.
In some types of epilepsy, including ADNFLE, a pattern of neurological symptoms called an aura often precedes a seizure. The most common symptoms associated with an aura in people with ADNFLE are tingling, shivering, a sense of fear, dizziness (vertigo), and a feeling of falling or being pushed. Some affected people have also reported a feeling of breathlessness, overly fast breathing (hyperventilation), or choking. It is unclear what brings on seizures in people with ADNFLE. Episodes may be triggered by stress or fatigue, but in most cases the seizures do not have any recognized triggers.
The seizures associated with ADNFLE can begin anytime from infancy to mid-adulthood, but most begin in childhood. The episodes tend to become milder and less frequent with age. In most affected people, the seizures can be effectively controlled with medication.
Most people with ADNFLE are intellectually normal, and there are no problems with their brain function between seizures. However, some people with ADNFLE have experienced psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are directly related to epilepsy in these individuals.
We are currently waiting for more information about genetic testing and approval for that to happen. In the meantime they started her on a medicine that she may or may not be on for the rest of her life. This will most likely be her new normal. I never thought it would be us but it is. At our six month follow up in Utah we will be able to ask lots more questions and get some more concrete answers. We have a camera in her room to help monitor her nighttime seizures, we watch her closely while swimming, climbing or anything that could be dangerous if she goes into a seizure during the day. Once we started her on the medication she starting sleeping a lot more during the day and her symptoms seem to be getting better but the verdict is still out. With school starting soon I hope we can get her regulated well enough that she can focus and learn in school without being tired, nauseous, dizzy etc.
CT scan
Any sort of trip, family activity, etc. we do she crashes hard and sleeps awhile afterward no matter where she is or who she is with.
AT EIRMC for her EEG. We had to keep her up all night so she would sleep through the test. It was a struggle getting an 8 year old to stay awake all night on purpose.
At Mountain View Hospital for her MRI.
After all the testing and sleepless nights she crashed and slept awhile.
While we were in Utah for our Primary Children's appointment we got news that a friend of ours was in a bad accident and was life flighted to University of Utah. We were in the right place at the right time to go visit him in the hospital while his family traveled to be with him. He is at risk of loosing his fingers because of the circulation so they had his room at 80 degrees. The Lord sure works in mysterious and miraculous ways and knows what we need and when it is best for us. The Lord also uses us to help those around us. We were blessed to spend a couple of hours with our friend as he was going through this trial and it took our minds off what was going on with us.
At Primary Children's Hospital!
As we adjust to our new normal and have more doctor appointments, followups, and changes we are adjusting. Alayna keeps asking when she is done taking the medicine and we just tell her for now its until our follow up in December but it could be for the rest of her life. She doesn't like us talking to people about it or the things happening in our home because of it but the more people who are aware the more people we have on our team if something does happen while we aren't with her. We want to thank you all for your loving support as we struggle to come to grips about our sweet Alayna's diagnosis and plan of action for her future. We love and care about her and want what is best for her but it is very hard watching your child struggle with this and all the symptoms while knowing she has no control of what is happening in her world or her body right now. We appreciate your concern for her and your willingness to be on our team as we figure out the next steps to get her back to our sweet Alayna as we knew her while also doing what is best for her and keeping her life as normal as we possibly can.
