Kaitlyn's HH Journey
We brought our perfect beautiful daughter home two days after she was born. Soon we realized that we had a fussy baby who wouldn’t sleep unless we held her and was sometimes inconsolable. When I took Kaitlyn to the pediatrician for her two-week check-up, I was told that she had colic. Soon after that, I was told she may have reflux. Then I was told that some babies just weren’t good sleepers. We tried different things, but nothing seemed to help.
As she got a little older, she was no longer colicky and it became apparent that reflux wasn’t an issue; however, her difficulty sleeping remained. It was just before her first birthday that we really started to notice that something wasn’t right. It was subtle at first and hard to pinpoint if there was really something wrong or not because most of the time she was her usual spunky, sweet, bright-eyed self. But on some days, she just wasn’t. She would squint her eyes a lot, and it looked like she was in pain. We initially thought this was due to changes in the weather because it seemed to happen most often on cloudy, rainy days. But it sometimes also happened on a beautiful sunny day.
Migraines run on both sides of the family, so we thought maybe she was having them too. Nothing helped though. Not Tylenol or Ibuprofen. Not turning the lights off and sitting in the dark. Cool wash cloths didn’t seem to help. I even tried holding a banana peel on her forehead, something I had read online that was supposed to naturally relieve migraine pain.
The first time I mentioned the “eye thing” (as we called it) to her pediatrician was at her 15-month checkup. This happened to be a good day for Kaitlyn. She was feisty and bright-eyed and very talkative. Her symptoms were hard for me to adequately describe and since she had met and exceeded most, if not all, of her developmental milestones, the doctor wasn’t too concerned at this time and said to wait and see if her symptoms changed. After that, Kaitlyn went about one month without doing it at all.
But it soon started again. It was worse if she was overly tired, which was a lot because she never rested well, especially during these episodes. She would start to fall asleep and then her respiration rate would increase rapidly, which would also cause her heart rate to increase¸ making it impossible for her to get the rest she so desperately needed. If, by some chance, I was able to get her to take a good nap, which meant I would have to hold her the entire time, sometimes she would wake up and be completely back to normal. But not always. Something else we noticed was that during episodes, she would often stomp her feet quickly and wave and repeatedly say “Hi” and look down while her eyes were squinting. She would also become extremely sensitive and clingy at these times, like she was on an emotional roller coaster.
One day Kaitlyn told me that the bright light hurt her eyes, which brought me back to thinking she was having migraines, as well as thinking she may have an anxiety disorder, or maybe even Bipolar Disorder, which also has a history in the family. I called her pediatrician to discuss Kaitlyn’s symptoms, and we agreed to put her on a migraine medicine to try to rule things out. At first it seemed to be helping, but before long, all of her symptoms returned.
On March 30, 2015 (age 21 months), Kaitlyn was having a bad day. We decided to take her to our local emergency room to see if there was anything they could do for her. They felt it was best to send us to a larger hospital about an hour away where she would be admitted to the Pediatric Neurology Service for a 36-hour EEG with continuous video and audio monitoring. When the EEG came back normal, the doctors told us that it was probably a motor tick and sleeping difficulties that she would outgrow. They recommended that we start giving her Melatonin every night to help her sleep. After a week of doing so, she was worse than before so we stopped it, and they prescribed Clonidine. At first it seemed to help some, I think because it helped her sleep. She would still have bad days where she was very restless and would even seem to be hyperactive at times, but not as bad as before. Soon she started refusing to eat the yogurt that we put the medicine in, and its effectiveness had started to wear off anyway, so the doctor told us to stop the Clonidine and see how she did.
About a month later things had gotten bad again, so the doctors suggested that we bring her back for another EEG. When we arrived, the head of the Neurology Department came to see her. It was obvious that he thought we were wasting everyone’s time since the first EEG was normal, but he agreed to do it anyway. He said to us that the symptoms we were describing were “normal pre-school behavior.” I explained to him that I vehemently disagreed with his assessment and tried to better explain the situation to him. When he left, I was in tears. He made me feel like I was nothing more than a crazy, over-protective mother. He didn’t seem to care about my daughter at all.
While there, I requested that they do some blood tests to see if there was anything abnormal, but they didn’t want to do that either. I had to beg and plead with them until they finally agreed. Once again, all her tests were normal which was great news, but we still didn’t have any answers. They did not recommend an MRI at this time because the sedation she would require would be too dangerous for her, and they felt that it would be normal also. So they sent us home for a second time with no answers.
To our surprise, for some reason she started doing better. She only had a handful of bad days in about three months. I was still afraid to get my hopes up.
Sure enough, it started again. But now I was able to notice a distinct pattern in the timing of her episodes. They were coming every ten days and lasted 1-3 days. We could always tell when an episode was starting because her laugh was different. We called it her “crazy laugh.” The next thing we would notice was her squinty eyes; they would even get dark circles around them. She just looked so weak and pitiful. She was so emotionally unstable during episodes that she would have complete meltdowns over things that normally wouldn’t upset her at all. And sleeping was very difficult as she would move around all night and never really rest.
Then after a couple of days, it was like someone flipped a switch, and she was totally fine – back to normal. They became so predictable that we began planning events and trips around them. Every time I mentioned it to her pediatrician, she would just sort of shrug and say, “Yes, that’s odd.” But she never felt that Kaitlyn needed further testing and still thought it was something she would outgrow. With so many doctors (eye doctor and allergy doctor included) telling us this, we decided to watch her and see how she did.
By chance, I caught a seizure on camera. You can see her go from her sweet self, to fighting it off, to the full blown seizure, then trying to recover.
It became obvious that whatever was going on was not going to get better on its own. One day I came across an article online about an autoimmune disorder in children known as PANDAS. Many of the symptoms described sounded similar to what Kaitlyn was experiencing so I requested an appointment with a Pediatric Rheumatologist.
On the day of the appointment, Kaitlyn was doing the “eye thing.” As much as I hated seeing her this way, I hoped and prayed that she would continue to do it until the doctor had seen her so she would better understand the symptoms I was describing. Thankfully, she did. I had a list of things that I thought it could be as well as tests that I wanted ordered that I shared with the doctor. Much to my surprise, she agreed with me and ordered everything I requested and then some. Kaitlyn went through an extensive work up that included labs, urinalysis, and an echocardiogram – all of which were normal.
On May 23, 2017, just a couple of weeks before her fourth birthday, Kaitlyn had an MRI of her brain that revealed she had a tumor known as a Hypothalamic Hamartoma. We were scared to death but relieved that they had finally found something to explain her symptoms.
When our pediatrician called the Neurology Department that we had seen previously to inform them of the diagnosis and to make us another appointment, they still did not believe that the HH was causing her symptoms. It was then that we decided that we weren’t going to waste another second with them, and we requested a consult at Cincinnati Children’s Hospital.
On June 8, 2017, we drove the nearly 2 ½ hours to Cincinnati. We saw a neurologist, neurosurgeon, and neuropsychologist, all of whom were excellent. They told us that Kaitlyn’s symptoms were textbook examples of someone with HH. They scheduled her for what they call Phase 1 testing for evaluation to determine if she was a candidate for epilepsy surgery. They also told us of the possibility that Kaitlyn could have hormone disruptions, such as precocious puberty, and made her an appointment with an endocrinologist.
Two weeks later, we returned to Cincinnati for Phase 1 testing – a 5-day admission where they did a continuous video and audio EEG as well as a different x-ray every day that she had to be sedated for – a MEG scan, PET scan, MRI, ictal, and interictal scans. It was absolutely heartbreaking watching the doctors sedate her every day while I held her. After the first couple of times being sedated, she realized what was happening, and the next time while I was holding her she was hugging me and crying and said, “I’m scared, Mommy! I don’t want more sleepy medicine because I don’t know what’s going to happen.” I tried my best to stay strong and console her until she went to sleep, and then I had to lay her down on the table and walk away. That week was very difficult for all of us, but Kaitlyn was so tough and handled it all like a champ!
On July 7, we returned for her follow-up visit where they explained to us that she indeed would need brain surgery to disconnect the tumor from the hypothalamus by doing an MRI-guided laser ablation. Their hope was that this would stop her from having gelastic seizures and prevent her from having precocious puberty.
We also followed up with the neuropsychologist who had done extensive testing on Kaitlyn a month earlier. She told us that Kaitlyn was a very bright little girl and that she scored off the charts with her verbal skills. Her nonverbal skills weren’t quite as good but she said this was insignificant. Also, her non-dominant hand was a little slower than it should have been and that it was probably related to the tumor.
Next was her first evaluation by endocrinology. Based on her labs and bone age x-ray, they felt that if Kaitlyn wasn’t already in early puberty, she could be in as little as a month.
Now we began the waiting game. Surgery was scheduled for September 19 but was eventually moved up to September 6. It was the longest, most difficult summer of our lives. Kaitlyn started having continuous episodes every day now instead of every 10 days. Her neurologist originally felt that there was no need to start seizure medicine until 2 weeks prior to the surgery (at the surgeon’s request) because this type of seizure didn’t typically respond to medicine. But once she started having multiple seizures each day, they decided to give it a try. She started taking Vimpat twice a day, and after a couple of weeks, it began to help. She would still have a gelastic seizure a few times a day but without as much restlessness and anxiety.
About a week before surgery, Kaitlyn told me about a dream she had the night before. She said that she was in a place she didn’t know, with a man she didn’t know and that they were walking on water. That immediately gave me chills. My first thought was that Jesus had visited her in her dream. I asked her how she knew that she could walk on the water and she said that the man told her she could. At first I wasn’t sure if this was a good sign or a bad one. Later, my dad asked her what the man looked like, and she said that he had short, dark hair and “circle glasses.” We couldn’t think of anyone in our family that fit that description that she may know in Heaven, but we later realized that her neurosurgeon had dark hair and glasses and that it could possibly have been him, that Jesus may have come to her in a more familiar form so as not to scare or upset her.
A family friend studies the meaning of dreams, and she told me that when someone dreams of walking on water it means that something successful is about to happen. This provided us with some comfort and strengthened our faith that God was going to take care of our precious girl and see her through this challenge.
September 6, 2017. The day of surgery had finally arrived. Kaitlyn would be the first HH surgery to be done at Cincinnati Children's. Saying goodbye to our child and handing her over to a team of doctors and nurses was the hardest thing we’ve ever done. Somehow, we managed to get through it without letting Kaitlyn see us cry or notice how terrified we were. Sitting in the waiting room anxiously waiting for news about our daughter was excruciating. Thankfully our 11-year-old son and several family members were there waiting with us. That helped tremendously. After six very long hours, we got word that the surgery was over and the surgeon was closing her up. I immediately burst into tears of relief that this part of the journey was over and that I would get to see my girl again soon. The doctor came in and explained to all of us that everything went very well and that Kaitlyn had done great. She was already awake and told them that her head was hurting, but it was easily controlled with a little bit of medicine. After what seemed like forever, we finally made it to the PICU to see Kaitlyn. To our surprise, she was awake and fairly alert. One of my biggest fears was that her memory would be affected by the surgery. I had read that some patients come out of surgery with short-term memory impairment, among other things. Previously when she had woken up from anesthesia, she was not in the best of moods, particularly with her daddy for some reason. So when her first words to us after surgery were “Go away, Dad!” we were so relieved!
She did well overnight except she had an increase in her urine output, which was concerning for Diabetes Insipidus. Thankfully after some tests, it was determined that this was not the case. The next morning she was moved to a regular room and was pretty much back to normal. Less than 24 hours after surgery, she wanted to go out and explore the hospital and was in the gift shop picking out something for herself and something for another little girl we knew that had been in the hospital for quite some time. It was amazing to us how well she was doing!
We would have bought her anything in the gift shop – she picked out an umbrella!
The next day, less than 48 hours after surgery, she was released from the hospital and was doing great! We were beyond thankful and so happy to be going home.
Her first neuro follow up went well. They decided to keep her on the anti-seizure medicine a while longer as a precaution. The follow up with her endocrinologist didn’t go quite as well. They determined that Kaitlyn did in fact have precocious puberty and would need Lupron therapy for at least the next 8 years. We hoped and prayed that this wouldn’t happen, but we’re trying to remain positive about it. We still have so many blessings to be grateful for.
One of which is that on October 9, about a month after surgery, Kaitlyn was able to start pre-school! There was a time when we weren’t sure if she would ever be able to go to school, so this was a pretty big deal. It took a while for her to adjust to being away from home, but she has grown to love going to school and loves her teachers and her friends.
Kaitlyn started getting monthly Lupron injections in November 2017. As you can imagine, each one is quite traumatic and stressful for her. The good news is that at her last check-up with endocrinology, the doctor said that she didn’t see any progression of puberty and that Kaitlyn is now a candidate for either the 3-month injections or the implant in her arm that only needs to be changed every 18-24 months. We decided to go with the implant and at this time, we are waiting to hear back from the insurance company to see how much it will cost and if we will be able to afford it.
Kaitlyn came off of the seizure medicine in December 2017. We feel like she has remained seizure free since surgery, but whenever she laughs a little differently than usual we wonder if the seizures have returned. I don’t know if that fear will ever completely go away. But for the most part, we are in awe of how well she’s done. She is doing great in school and making lots of friends! She seems interested in doing some sort of group activity, like gymnastics and soccer – things I never thought she would want to do because of how emotional and anxious she always was.
Kaitlyn with her mom, dad, and brother Layne.
This is obviously not the journey we would have chosen for our daughter, but through it all we have learned to be more appreciative of all the little joys life has to offer, especially those that come from our children. We don’t know where we will go from here, but we pray that Kaitlyn continues to do well and enjoys getting to be a little girl. We have also learned the importance of listening to your gut instincts and asking for a second or even third opinion if necessary. You know your child best and doctors don’t always know everything.
We would like to thank all of our family and friends for their support and prayers. We definitely felt them!