The BeginningSweet Madelyn was born in 2014. She was a scheduled C-section because she was breech. She was controlling how things would be from the very beginning :) I had an uncomplicated birth and she was healthy, or so we thought. She did really well with nursing and there were no other concerns at the time of birth.
A couple weeks after we were home, our doctor informed us that it is normal protocol for breech born females to have a hip ultrasound to rule out hip dysplasia. So we scheduled the ultrasound, not expecting much to come from it. We got a call that she did in fact have mild hip dysplasia in both hips and would need to be seen by the orthopedist and fitted for a Pavlik Harness. This was upsetting for us because she would need to wear the harness all the time, for many weeks/months....I can't even remember how long she was in it, but it was approximately 3 long months. I remember feeling so sad that we couldn't hold our baby close, give her baths, put her in cute outfits or put her down for tummy time. We were so frustrated that she would have to wear the same harness through everything and it couldn't be washed! But we did it. Anything for Madelyn. Her time in the harness was extended because her hips weren't where they wanted them the first time we followed up, but eventually we were able to reduce the amount of time in the harness and soon our baby was free. The doctor said her hips looked good and that she would need to follow up in 6 months. Phew, we avoided any serious surgery and made it through our first scary situation with our newborn. |
SeizuresA few days after I returned to work from maternity leave, we traveled to visit my family and attend my nieces birthday party. We had a great time at the party and enjoyed showing Madelyn off to everyone. Later that day, I was feeding Madelyn and attempting to burp her on my lap. Madelyn's eyes widened, became glassy and she started rhythmically jerking. I shouted, "What's she doing?" I had no idea what was going on, but knew something wasn't right. My mom and husband didn't see anything. It stopped as quick as it started. It lasted maybe 30 sec. I tried to explain to mom and husband, but it was hard. Perhaps she was choking a little. Maybe it was reflux. So, I looked it up. I found that reflux could in fact cause seizure like responses. While this was reassuring, I convinced myself it wasn't a seizure, because, well because it didn't look like any seizures I'd seen before. (I had previously had some seizure training when I volunteered at a camp for kids with epilepsy and when I worked with a family that had two boys with a rare seizure disorder --- so of course I knew what a seizure was).
If you know me, you know that while I perhaps convinced myself it wasn't a seizure, I obsessed about it and couldn't let it go. We returned home at the end of the weekend. We were visiting with more family and it happened again. One or two more times. What was happening? So my husband suggested we take her to urgent care. The doctor evaluated her and told us it was very unlikely that it was a seizure and that it was likely feeding related. They told us to follow up with our PCP if it continued happening. So we left there feeling a bit relieved that it was only feeding related. Until it kept happening. The thing was, it only happened for me initially. My husband didn't see it. I witnessed each incident was eyes wide, eyes glassy, rhythmic jerking and lasting 30 sec to a min. Some days it happened several times a day. I became obsessed and panicked. And my husband had a hard time understanding why I was making such a big deal about it, because he hadn't really seen it. It was all I thought about it. What if it was a seizure? We followed up with our PCP. Showed him video recordings of the incidents. He was very happy to see the videos and reassured us again that it is very unlikely that it is a seizure. However, he still wanted her to have an EEG to rule them out. Brian took her to her EEG later that week. If you have never experienced an EEG, it might be hard for you to imagine how difficult it is to watch your daughter scream as they place each electrode on her tiny little head. It is pure torture. When she was finally hooked up, she had an episode!! Perfect! The technician had concerns and contacted the Neurologist right away. They read the report and determined it to be a seizure. Madelyn was 10 weeks old and was having seizures. They wanted her to be admitted to the hospital right away for testing and observation. After hours in the Emergency Room, talking to teams of doctors and not being able to offer Madelyn any food, we were admitted to the Neurology floor and hooked up for ongoing monitoring of the seizures. We spoke with many doctors who told us the plan to rule out the causes of the seizures. She was to have an MRI, metabolic testing, continue the EEG, and they recommended genetic testing be done to rule out any genetic diagnosis. Well that will be nothing to worry about, I thought, certainly not knowing anything at all about it. Our Madelyn couldn't possibly have a genetic disorder. Doctors reassured us that kids could have seizures and grow out of them, but for now they wanted to start her on a medication to stop and prevent the seizures from occurring. We learned how to deal with seizures and talked with the team about potential risks and what to do if the seizure didn't stop. We were warned about a specific type of seizure that could occur that is very detrimental and very clearly educated and instructed about what to do if we thought Madelyn might be experiencing them. Throughout the visit, Madelyn remained happy and sweet and seemed to love the attention from the staff. We were released with recommendations to follow up with the team and to start the medication and were given clear instructions to call the neuro team if and when she had a seizure. The next few weeks went by. We were stressed and saddened. Madelyn continued to have seizures and we continued to call the doctor. One night, Madelyn started experiencing movements that concerned us that might be the seizure they had warned us about. We called immediately the next morning. A couple hours later, our doctor personally called us and after getting more details asked us to come to the hospital and be admitted for overnight EEG monitoring due to concern about seizure type. It was December, a few weeks before Christmas and we were headed to the hospital, fearful of what they would discover. During admission, they wanted to do more testing including a spinal tap to determine the cause in order to provide the right course of treatment. A spinal tap on my 4 month old?! What?! The doctor eased our anxiety and took our little one away to perform the test. Soon she returned and nurses informed us that it was unsuccessful and they would have to try again later. As you might imagine, we were frustrated and upset that Madelyn had to go through it once, let alone another time. In the mean time, they decided to start her on some vitamins (I think) as they awaited test results hoping it might be metabolic. Madelyn vomitted immediately after it was administered. At the time, Madelyn was still in her harness (remember, it can't be washed) and Madelyn had gotten sick all over it. It looked like Madelyn had eaten a highlighter, because she vomitted bright yellow and now her harness had bright yellow spots all over it. What a disaster. I didn't want to give my daughter this stuff again. Night passed slowly. Brian was home taking care of the dog and would return in the morning. Doctors start rounding early, but I didn't get much sleep and was awake prior to the doctors coming around. The nurse came in and was excited to share that Madelyn wouldn't have to take the vitamin that made her vomit again. She said, "I told them you would be happy." And while that was true, I knew deep down, that something wasn't right. She told me that they were going to start unhooking her from the EEG and that we were going to be able to go home today. Again, great news, but deep down, I knew this meant they found something and I knew it wasn't good. Soon after, the Neuro team came in for family rounds. Brian still wasn't there. I was alone with Madelyn. The Neuro team ( a team of 12ish doctors) stood surrounding Madelyn's crib while I sat there, alone in my pjs, and listened. Things like the following were said: We found the results of the genetic testing. We found the cause of the seizures. "And it's not associated with good things." We're not going to tell you about it right now, and a doctor will be back in to talk with you about it. You need time to process this. Here is a handout. Bye. I struggled to breathe. As they exited the room, one member of the team stayed back, and identified herself as the person who was going to verify insurance and other information and eventually asked "how are you?" How am I? Really?! I couldn't even speak. I just cried. She hugged me and walked out. |
DiagnosisThere we sat. Alone in the hospital room. With what was the most confusing yet, clear feedback. No name, no answer, yet we had answers and we would have to wait to learn more. The clear answer was that it was something terrible. I could have looked it up, because we were told it was it like Rett Syndrome. In fact, we did look it up when Brian came in. But, what we didn't know then, is that we were given a diagnosis that her diagnosis was similar too, but not the actual diagnosis. Anyway, Brian returned, and knew something was wrong. I struggled to get the words out. We sat there stunned and quiet. He was angry they told me without him, that I had to be there alone. Then he started researching. He read a little while we waited for what seemed like forever for the doctor to return and give us some actual information. He only told me if I wanted to know, I could read it myself. And I did. And as I read, I tried not to let what I was reading crush me.
The doc came in and talked with us and told us her actual diagnosis. She was diagnosed with CDKL5. The doc told us what she could, which honestly and admittedly on her part, wasn't much. They gave us resources to check out to learn more. CDKL5 is a rare genetic disorder that leads to difficult to control seizures and severe neuro-developmental delays. Most importantly, she told us that right now, we love Madelyn and cuddle her and treat her like a normal baby and we'll deal with the struggles as they come. We were given another medication to start, in addition to a rescue medication in case her seizures lasts longer than they should, and were given lots of paperwork to get linked with a variety of services. And we were discharged home. As you might imagine, those next few months are a blur. We met with genetics and found out that she also has a second mutation, SCN2A. While they don't know for sure, they assume this mutation isn't causing much of what we are seeing and feel that the CDLK5 mutation is mostly responsible. Our world was rocked. Our dreams for Madelyn shattered. She may not talk, walk, laugh, smile. We may never hear her say I love you. We may never see her run around with her friends. These things are still true to this day, but unlike when we first heard the news, we have HOPE. And our LOVE for Madelyn is beyond measure. Madelyn has seizures anywhere from weekly to a few a day depending on how well her medication is working. At a year old, a g-tube was placed to help her get the nutrition she needs. She doesn't eat orally, though now she is working on taking more bites. She has learned to sit upright by herself and is getting so strong day by day. She is reaching for toys, and is the sweetest, happiest little girl despite the daily challenges she faces. She has proven that she can and WILL do things that we were told she wouldn't. She is so resilient and is a beautiful inspiration! Madelyn brings so much joy to our family and those she interacts with. She is moving mountains!! |