First night in the helmet (and a current update)

It’s been a LONG time, but I’m going to try really hard to not let this fall by the wayside. We’ve been extra busy with house hunting, lots of doctors appointments, and the holidays. Will’s grandmother also passed away pretty unexpectedly so we’ve been dealing with that. We are still in shock about it, we planned on her being around for many years. Will was very close to her, so it hit him hard. And she absolutely adored Eli, so we are both sad about her not getting to watch him grow up like we thought she would.

I left off at the beginning of Eli’s helmet journey. They scanned his head just before his surgery to figure out what size helmet to order (I don’t know if more goes into it than that…). He had surgery on a Monday, and that Friday we went to the orthotist to pick up his helmet. The doctors told us his head wasn’t THAT fragile, but it sure looked and felt it, so it was almost a relief to have something protecting his brain. That week without the helmet we would apply ointment to his scars with a q-tip and the q-tip would just sink into his head. It gave so easily, it felt like any slight pressure was dangerous, even though we logically knew that wasn’t the case. It took over a week to get all the blood and betadine residue off his head because we were afraid to really touch his head at all.
The procedure at the orthotist was uneventful. She tried the helmet on him, marked a few things with a sharpie, then left for about an hour to file the plastic down in certain locations (like around his ears) and add extra padding where the helmet was a little big. She instructed us on how to ramp up to 23 hours a day and off we went.

That afternoon and evening we were supposed to do one hour on, one hour off. My best friend (who was there for his birth) was in town, along with her parents, and we also invited my aunt and uncle over for dinner (we were still staying at my parents at this point, so this is all occurring with their house as home base). Every time we went to put his helmet back on, he would cry. And every time, someone would remark with some variation of, “oh why are they being mean to you? Why are they doing that to you? Why are they ruining your fun?” It was infuriating. I finally told my mom they had to stop. It wasn’t like I WANTED to put a giant, ugly plastic helmet on his head and watch him scream. It wasn’t warming my cold, dead heart to torture him. I would much rather not have to deal with it. But we didn’t have a choice. And being made out to be the “bad guy” after everything else we had dealt with was just too much.

The first night in the helmet was…awful. Awful is an understatement. It was horrendous. I was still off work via FMLA but Will was not, so I tried to deal with most of the night on my own. He was up every 30-45 minutes like clockwork, screaming. That night (and the next few) are just a blur in my memory, but I do vividly remember sitting on the edge of the bed, holding him and sobbing in his face as he sobbed right back at me. I thought I would never be rested again. Or sane. Or happy. I would offer advice to other helmet parents here, but frankly nothing we tried helped at all. The only thing that worked was time. Luckily, they really do get used to it. Now, six months later, I think he sleeps better with the helmet than without it (we do take it off when he has fever and because of teething he’s been sleeping without it regularly lately).

That Saturday or Sunday morning (I can’t remember which, it’s been too long), we all went to brunch. This was the first time we had been in public with the helmet. I felt so self-conscious. I just knew the people who smiled at us were smiling out of pity, and the people who just stared were silently judging us (I had heard too many horror stories of the awful things people say to parents of helmet babies). In my mind we were the center of attention, but in reality I don’t think most people paid that much attention. I’ve definitely gotten more used to people giving us second glances, and being a little weird when they say he’s cute. I think some people are afraid to mention his helmet, which is silly. I paid hundreds of dollars to have an artist paint it, I am CLEARLY aware he has it on, you can bring it up. It’s weirder to pretend you don’t notice it and just talk about how cute he is in a stilted, awkward way. I find the people most likely to bring up the helmet eventually tell me they had a child who wore a helmet, or their best friend did, or their grandchild did…something like that. And I’m sure in the future when I see a helmet baby I’ll do the exact same thing. This is a weird place to leave off, but I’m not sure what I want to discuss next as far as chronological stories. I DO want to update where we are currently and talk about a few things I’ve learned though, so without further ado…

We are currently waiting on the results of our exome sequencing test to come back. Our insurance denied it, and it would have been $15,000 out of pocket, but our genetic counselor is amazing and knows what approach to take after an insurance denial, so the testing company is actually going to cover the cost for us. Results take 12-14 weeks to come back so we have a while to go. We really don’t expect to learn anything from this test. Only 25% of people who have this test done learn anything definitive. But, if we don’t, we have more plans lined up. He has been accepted to two different research studies, on the conditional basis that we don’t received a diagnosis from this round of exome sequencing. One is taking place at the NIH (National Institute of Health) in Washington, D.C., so we are planning to visit there in March, and on that visit we will also be driving to Nemours/DuPont hospital in Delaware to see Dr. Michael Bober. He is one of the leading geneticists in skeletal dysplasias, and basically if anyone can give us an answer that doesn’t come from exome sequencing, it’s him.

That brings me to my lecture for the day. Guys…you have got to fight for your kids (and yourself if something medically disastrous happens!). No one else will do it better. I am not a medical expert by any means. Before this, I wasn’t even a decent layperson. I have read so much. Sometimes I have to google every third word of a medical journal to even begin to understand it, but I do it. I write down lists of questions and call his doctors and have them or their nurses explain things to me. They might hate me or I might be “that parent,” but who cares. I refuse to stand idly by. Doctors are busy and I respect that, but it’s not only their job to treat patients, it’s also their job to educate. I want to be educated. We have had a terrible experience with his endocrinologist, so I talked to his pediatrician and she referred me to someone else. We have an appointment with this new endocrinologist in January. Don’t sit back and accept substandard care. Do whatever you can. Read medical journals, join Facebook groups (one of the studies Eli is going to participate in, the Rare Genome Project, I learned of from a support group on Facebook). Search for clinical trials on www.clinicaltrials.gov. That’s how I found the other study. Get a second opinion. I love our geneticist and I think she is brilliant, but at the end of the day she is not a specialist in skeletal dysplasias, and Dr. Bober is. His office requested we do X-rays now instead of waiting a year like the original orthopedist we saw recommended, so I bugged my pediatrician’s office until they referred us for those too. I will say one of the most important things you can do is find a GOOD pediatrician. Ours is amazing. I believe Eli is her first patient with his issues (I mean hell he might be the first person in the world with his exact issues grouped together, so that should go without saying), but she reads his notes from the hospital, she gave me her personal cell number and told me to text her whenever, she always finds time to fit him in, she keeps track of where we are with appointments, and she GLADLY refers me to specialists anytime I ask. She has visited Eli in the hospital and brought us chocolate (clearly the way to my heart), and she is just so supportive of me. When I tell her about the research I’m doing and the studies he’s enrolling in she tells me I’m doing the right thing, I’m fighting for him, and that I’m doing an amazing job of taking care of him. It’s so easy to second guess yourself in situations like these. I know Will and I are amazingly blessed to have understanding jobs that give us time for all these appointments, and leave me with enough time to research until my eyeballs fall out, and honestly we’re lucky to have the intelligence to know where to start. I’m not saying any of this to brag about myself. Trust me I WISH I could be lazy and come home and read a book instead of spending time on rare disease websites, but I can’t. I’m just sharing this to give other people ideas and to tell them IT’S OKAY to be the squeaky wheel. Who cares if a doctor thinks you call him too much?? What matters more in the long run? Not his stupid opinion, that’s for sure. The more I learn, the more passionate I am becoming about patient advocacy and education. I don’t think anyone reads this besides my family and a few friends, but if some stranger does happen upon this and needs advice, tell me. As I said, I’m certainly not an expert, but I do research for a living and I’m pretty good at it. Learning you have a child with an undiagnosed rare disease gives you such a helpless feeling. It’s so easy to just give up and take things at face value. If doctors can’t figure it out, surely there’s nothing you can do. But that’s not true. Don’t fall into that trap. I’ve called his doctors with lists of probably 20 diseases over the past few months and asked them about each one. And they explain why they don’t think he has it. So no, I didn’t solve the mystery, but I learned even more about what I should and shouldn’t be looking for. And when another specialist suggests one of those diseases I’m able to articulate why we’ve already ruled that one out. If you don’t have time, see if you have a trusted friend or family member who can help you research or call doctor’s offices and make appointments for you. This was a very long exposition on what I’ve said before. No one will fight harder for your kid than you will. So go fight.

Post surgery, pre helmet

First morning after sleeping in the helmet...don't let the smile fool you

"That little droid and I have been through a lot together" (I decorated this helmet)