Hypothalamic Hamartoma

I'll be honest I feel a little dumb posting about Winnie's condition again mostly because since my last post we've kinddddaaa ruled out both of those sydndromes now.  She still hasn't been fully diagnosed with a syndrome yet but we're getting closer.  I don't think anything in the medical field manifests iteself 100% the first time you go looking for it.  Or at least that's been our experience. It's a puzzle trying to diagnose your child. When we thought she had Bardet Biedel/McKusick Kauffman syndrome those suspicions have only led us to where we are now.  You bring one possible explaination of all these crazy symptoms you're seeing to the table.  Then, you slowly narrow it down.  We're still in the narrowing down process but this is where we're at now.

I have videos and videos of Winnie having these cute "laugh attacks", as we call it, some of them before she was 2 months old.  Over the past year she has not grown out of them.  Almost every night after she goes to bed she will randomly wake up at 10:30pm or so.  From our living room we hear her nervous laugh that lasts about 20-45 seconds then she falls right back asleep.  Other times she'll be in her car seat and suddenly burst into laughter. It always cuts off just as abruptly as it starts.  Sometimes it happens in the kitchen or she'll stop dead in her tracks in the middle of the hallway.  Nothing funny provokes it, it's just random.  We started getting really concerned when she started to look scared after she would have an attack.  She would hold her head, scream, run to us, or hug her blankie.  It's like she didn't feel in control of her body.  Almost everyone in our family noticed it.  Of course, Dayton and I have wondered about them too.  Before we went to Arizona around Thanksgiving last year Winnie had a laugh attack as I was putting her to bed.  I had a hunch to really try and figure out what was going on.  That hunch kept me up until 1am.  I read about Hypothalamic Hamartoma's associated with Pallister-Hall Syndrome (one of the syndromes we discussed with her geneticist at one point).  Hypothalamic Hamartoma's are a benign brain tumor near the Hypothalamus.  It can effect hormones, behavior, and cause a variety of different seizures.  My heart sank when I read "laughing seizures" and I immediately started sobbing.  The uneasiness of everything hasn't subsided since that night.  I thought we were done with the syndromes, and the tests, and the scans.  I want to be done with it.  The next day, after the hours and hours of research, I emailed my contact from NIH in Maryland.  I love love love love love this lady.  I've mentioned her here. I told her what I'm noticing and asked what I should do next. She asssured me she would email me back or call.  She called me when I was in Arizona back in November.  She recommended I record more video of the attacks, get referrals from Winnie's Pediatrician, meet with Neuro/Genetics, and get an MRI.  I knew I wanted to meet with a few more doctors at Seattle childrens, more specifically a geneticist.  When Winsley's genetic testing we did in Phoenix came back the nurse on the line said, "Nothing matched up."  Well, that's good news in some ways but that doesn't give us any answers or any clue what we should expect for our other children.  We were right in the middle of moving so I pushed it on the backburner and never went over her tests with anyone.  With my new hunch, I scheduled Winsley's appointment with her Pediatrician with the hopes of getting referrals for some specialists.

Early on when we were in the midst of figuring out what syndrome she had.  My Mom encouraged me to talk to a bunch of different Moms.  She pointed out that, "You'll see a lot of these mom's who have babies with phsyical issues don't give up.  They just don't accept no.  They don't settle.  They fight for their kids."  A lot of times I didn't know what to fight for.  I felt lost.  But over the past six months I've felt settled enough in Washington, we've all noticed her laugh attacks more, and I've become a lot stronger.  The timing felt right to pursue my gut feeling. It doesn't make it any less intimidating to look a middle aged Doctor in the eye and say "I think my daughter has a benign brain tumor because I've Googled it."  In my defense I'm a smart little researcher and have read countless case studies not just wikipedia articles. :) Still, it's terrifying!  I mean really, when you try and diagnose you're 1.5 yr old baby with some rare symptoms of some rare syndrome people look at you like you're crazy. Straight up crazy.  But that mommy intuition is as real as you and I.  I was so intimidated to meet with her pediatrician to ask for a referral.   I went into his office with a chip on my shoulder thinking he might look at the videos of her laugh attacks and not write her referrals.  I was ready to push him for them. He didn't buy it but luckily still approved it.

In the beginning of January we met with a Nurse Practitioner in the Neuro dept at the hospital.  I rolled my eyes a little bit when I found out I wasn't going to be meeting with an actual Neurologist because I was, again, worried they wouldn't take me seriously.  Looking back, I'm so happy I met with the NP.  I've realized that a lot of surgeons are incredible at their job because they can perform surgery on children and not let their emotions get in the way.  On the flip side though, it also can make clinic appointments with them difficult because they don't always have good bedside manner.  The NP we met with was so great.  She took her time, she didn't rush through watching Winnie's videos with me, she noticed weird eye movements in the videos that completely missed, and was incredibly thorough.  She's been so great about contacting me, giving me results quickly, and responding to emails quickly.  That is HUGE. She ordered an EEG for a couple days later and then we went ahead and scheduled an MRI for February.

I wasn't expecting any ground breaking results from her EEG and kind of just felt like it was a stepping stone for what my ultimate goal was, an MRI.  The EEG was a little rough for Winnie.  She was sleep deprived and was uncomfortable with the electrons put all over her head, but it was quick.  The results came back negative for seizures.  Winnie's NP wasn't worried and agreed to keep her MRI on the calendar.  After her EEG earlier that morning, radiology made me take a folder home with information about seizures and epilepsy.  I was filing Winnie's paperwork and I glanced over and saw the sheet about seizures.   Is that really my kitchen table with a pamphlet about seizures on top of it?? This is the world we're getting thrown into now.  It's still so surreal that this is our life now.

Many times I felt like, "Am I just looking for bad news?!".  I knew I was right, or at least I really really really really really thought I was right, but I also didn't want to be right.   Every baby has random fits of laughter!! That sentence has surfaced in my head and clouded me with doubt more times than I can count.  Everytime I read something about Hypothalamic Hamartoma it says in RARE cases children have Pallister-Hall.  And sometimes, in even more rare cases they have syndactyly, and even more rare cases they'll have seizures but not just any old seizures; gelastic seizures.  Could my baby really have it?  How could some first time mom like me even know that?

The night before her MRI Dayton and I laid on our bed with the lights off talking about how the next day might go.  That day could be a day that we get the most important news of our life.  It could change our family forever.  I had knots in my stomach all day.  I'd like to think I'm kind of a patient person?? With this on the line, though, I was sick about it.  I felt like I was waiting alllll day.  Her MRI was in the beginning of February and she had to be put under in order to get the imaging.  I thought I would want to be there when she was put out with the gas mask, but never again.  I can't imagine how scared she must have been to be pinned down on the table and seeing me not help her.  Poor baby. Total we were at the hospital that day for 3 hours but the test only took 30 minutes.  Around 5:30pm Winnie's NP called me with results.  There was a mass on her MRI. Hypothalamic Hamartoma.

I was relieved.  Again, with the not wanting to be right but feeling I was right.  I was relieved because we had answers.  Sure, we have more questions now.  Surgery, medication, managing hormone levels.  What's next?  But I didn't know what I would do with myself if we had to wait for more tests.  I didn't know what else it could be if it wasn't HH. I feel like we can progress now and that is a good feeling all mixed in with the horrible truth that she has a benign brain tumor.

Sometimes I try and make a joke about it.  And then an hour later Winnie has a really bad laugh attack and I get so mad at myself.  I feel bad for being insensitive and trying to joke about something that isn't funny.  Because it is so not funny.  But I don't know what I'm doing.  I don't know how to act.  I'm still trying to wrap my head around what this really means for her.

Now, if you're thinking, "At least it's not crying seizures!" or "It could be worse", you'd be right. A million percent right! I have good days and bad days and usually it's in sync with Winnie's good days and bad days.  I have times where I'm so hopeful for her and can laugh right along with her when she has an "episode" (because sometimes it is so cute).  But then I have days where I think about her future.  Dating, marriage, elementary school (oh my gosh, school. I'm so stressed about sending her to school.)  I have cried over this situation more than I have ever cried in my entire life.  When I have those nights falling asleep with my heart in pieces I usually end up with an "We are so lucky".  My gratitude comes after my tears alot of the time.  Throughout this year and a half I've learned a few things.  I've heard stories of babies with health problems, mothers losing children, babies hospitalized with RSV, the list goes on.  And my conclusion is, all pain is relative. Our situation is hard for me.  It just is.  I leave room for myself to feel every emotion on the spectrum.  I'm human.  I cry, I'm hopeful, I'm scared, I'm happy.  Sometimes all those emotions happen with in 2 minutes.  It's so fun to be a hormonal woman! :)  At one point, I found myself hearing stories that may not be as severe as Winnie's and discrediting pain that family might feel.  Thinking exactly what many people have said to me, "It could be worse." I compared Winnie's situation to someone who may not have it as bad.  It's nothing I'm proud of by any means and thankfully I got out of that mindset fast. The suffering of watching your baby get Menengitis is just as real to a family as the suffering you feel hearing your baby has a tumor.   So no, I don't compare.  I think it goes without saying that, "it could be worse!".  I get a heaping dose of reality often, yes, but comparing my child's trials with someone else's doesn't work for me.  The fact is that there are many children and families going through extremely difficult trials that on the outside might seem so much more challenging.  But every single person is aching in their own way.  I've said before that Heavenly Father has a gentle way of reminding me how blessed we are.  He prompts me to remember that in a way where I feel like the pain we go through as a family is validated but He also helps me move forward.

A while ago, we were leaving Rondalee's house and Winnie had just had a laugh attack right before we left that night.  I got in the car and kept thinking about appointments and what I needed to do to help  Winnie.  A million things were running through my head.  Dayton knew I was being too quiet and he reached for my leg, "Babe are you okay?" I tried to hide it but he could hear that frog in my voice.  I told him how scared I was and that I just wanted to know what was going on.  I have enough tears and emotion for the both of us and I'm so grateful Dayton can be the person I can rely on.  He has a way of making me feel like things are going to work out even if I can tell he's scared out of his mind too.  I'm so happy to have him on my side through this entire thing.  I'm thankful he trusted me and my instincts.  He encouraged me to go ahead meeting with doctors.  He didn't question me for one second.  He truly is the person I was meant to marry.  It's so much more than being in love with him.  His strengths compliment my weaknesses and he lets me mother freely.

I have seen the Lord's hand throughout these past months.  I've been strengthened and guided to know who to talk to and when to push for more answers.  Right at the exact time we started investigating her laugh attacks we started reading scriptures as a family every single night without missing.  Not something we've ever done. Yikes!  It's not coincidence.  I know the Lord knew what trials were ahead of us.  He knew we needed some extra glue between us to keep us strong.  He knew I, personally, needed the spirit with me more.  I attend a lot of appointments without Dayton and that's just life!  I need to be able to make decisions quickly and ask the right questions all while keeping my composure.  That, I can not do on my own.  I need divine intervention for that one.  And I've felt carried through many appointments.

Our sweet Winnie girl is so perfect.  I'm so grateful she is thriving in so many other aspects of her life.  She isn't a single bit different now than she was five minutes before we got her results.  We are just figuring out more about her!  Dayton and I both agreed, last night, that it hasn't fully hit us yet. I can assure you a melt down is in my near future.  Right now we will wait to meet with a Neurologist and discuss our options.  We'll probably schedule an over night EEG since that is when Winnie has most of her laugh attacks.  We need to get her hormone levels checked out with an Endocrinologist.  We also have a genetics appointment is set up for Spring and probably another genetics test too.  I feel hopeful.  Maybe that's naive. But I feel prepared in some crazy way too.  I've studied so much and there is a lot more research to do in our future but we're ready.