The first time I heard Maeve’s giggle, my heart just melted. It was such an unexpected deep belly laugh coming out of such a tiny baby. She still has the laugh today, and for most people, it is so contagious. She is an amazing audience. If you can get her laughing, she makes you feel like you are the funniest person in the world. It’s impossible to listen to her giggle and not smile. Although now, I have learned to be on high alert when I hear it. Her laugh makes me anxious, which stinks because it has always been something I have loved so much.
Maeve’s second round of EEG results came back last week, and they indicated an increase in seizure activity. I had suspected it for a while, but as usual, everyone told me I was being paranoid. These laughing fits are in fact gelastic (laughing) seizures. They can lead to much more serious grand mal seizures in the future. We just started her on medication, and my husband and I so nervous about whether they will alter her personality. Since we’ve started her on these meds, I am already noticing that she has outbursts of hyperactivity, and a few minutes later she’s completely lethargic. I feel terrible that she just doesn’t have a way to TELL us what she is feeling.
A few weeks prior to this virtual appointment with the neurologist, after about 5 years of waiting, we were finally able to see a Developmental Pediatrician. They are SO difficult to find. We were excited thinking she was going to take Maeve on as a patient. Finally! We would have an actual expert watching over her, and I wouldn’t have to depend solely on a DDX3X Syndrome support group on Facebook that was recommended to us by the geneticist. I’ve since learned that this appointment with the Developmental Ped was just a one-time deal. I got to meet with her once. So I attempted to get as many specialist referrals and questions answered that I could in about a 15-minute window.
It was clear that she is a brilliant amazing doctor. But Maeve was her first patient in a jam-packed day. It was very clear that our time was extremely limited. She seemed very concerned about Maeve playing and messing up all of the toys that were in her office, which ate up a lot of time. I felt that I came prepared with my little “Maeve binder” that I bring to every single appointment, but I felt rushed. I was also explained basic things that I already knew as if I were a child myself.
Everything was so hurried, and I was flustered and sweating trying to hold Maeve back from playing with the toys. I really regret this by the way. Yes, it is my responsibility to ensure that my child doesn’t trash her office and destroy everything in sight. But why was I made to feel guilty about her wanting to play with and explore the tempting toys that were literally sitting right in front of her?! Very confusing.
Maeve’s feet have concerned me for years. I kept telling anyone and everyone that they have been turning inwards, and it seemed to be getting much worse. But I was told by more than one doctor that they were fine. I had second and third opinions, while my husband took her for x-rays. This Pediatrician took one look at them and questioned why I didn’t have her in leg braces when her feet were so bad. Aside from operating on them myself, what more could I possibly do? All in all, something that I had so been looking forward to for some answers and guidance, felt like a giant waste of time.
Maeve’s genetic disorder is so rare, I honestly don’t even know what questions to ask half of the time. I know how fortunate we are to live in a country that provides us with “free” healthcare, but all of the waiting can be incredibly frustrating. It is scary when the answers you are seeking directly impact your child’s health and wellbeing. So much of her future is in MY hands due to the decisions that I make now. This is especially overwhelming when dealing with dismissive doctors that seem irritated dealing with the “worrying about everything Googling mom”.
There’s no doubt that Maeve is worth all of the fighting just to get doctors to listen. So I will never stop doing it. I’m not searching for any type of cure or trying to change her in any way. I love her exactly the way she is. I just wish that she didn’t have all of these extra challenges to deal with. It feels as though it is my responsibility to eliminate them whenever possible. My poor Maeve who struggles with new footwear every change of season will now have to learn to adapt to leg braces. My spirited girl who loves to climb, run and jump will feel too sleepy with her new seizure medication.
For once, just ONCE, I would love it if my fears weren’t legitimate. I would love it if every dismissive doctor who acts as though I am being foolish for my concerns was right. I never thought that I would miss the days of being a new first time mom taking my oldest daughter to the doctor for absolutely everything, and they would laugh and tell me I was just an anxious new mom with nothing to worry about. Whenever it came to Maeve’s appointments, doctors seemed much more annoyed by all of my concerns and worries. Although I wish they had been right, it would have been so helpful if people had trusted my gut feeling for the last 7 years. And believe me, it isn’t always just the doctors in my life.
Friends and family will ask: “Why do you always think the worst?” “Why let your mind go there?” I don’t like worrying, and I really don’t like feeling that I need to anticipate the worst while being two steps ahead. Why can’t my track record just prove that I might be an expert on Maeve, and I might actually know what I am talking about? More often than not, I am made to feel like a crazy person, and it is so damn frustrating.
It makes me wish that my repeated concerns that were brought up when she was younger wouldn’t always come back to haunt us. I am angry with myself for not trusting my gut a little more, and maybe I should have fought harder. I really tried, but it obviously wasn’t enough. Relaxed, I just wish I could feel relaxed. The type of mom that enjoys life, rather than being the type of mom that needs to be afraid of her own daughter’s laughter.
I am a stay-at-home mom in my 40s, still finding it hard to believe that this is my title in life. Mom of two young girls and married to a pilot (in other words… part time single parent). I am ‘Auntie Boom’ to Willowjak, and have the tattoo to prove it! My youngest was diagnosed with autism at 2, and finally a rare genetic disorder called DDX3X at 5. I’m almost always tired, and I feel as though my goal in life is to survive. I’m sure that I am not alone on this quest.