“Trust. That’s what our story boils down to. It’s the foundation on which I’ve built my parenting style. I trust my gut, I trust my daughter, and I trust my husband. Our story starts several years ago, my mother was never a very trust-worthy person. She lived a life fueled by addiction and lies were commonplace. She sat me down and told me I might have something called Brittle Bone Disease. I had a few fractures throughout my childhood but thought nothing of this and never sought out a formal diagnosis. My mother is no longer in my life. It was a toxic tie I decided to cut out.
Let’s fast forward a bit. It was the morning of October 2nd and I was getting ready for work. I had just left a job as a CNA after nearly three years because the wear and tear on my body was getting to be too much. I had been working at a plant that manufactures chairs for auto and medical purposes. I had felt off and my period was late though that was nothing new for me. However, I started having cravings to the point I could taste what I was craving. I had also been feeling nauseous.
I decided to buy a test and took it that morning while getting ready for work. Those two little blue lines showed up before I even put my shirt on. My husband who was then my boyfriend was still asleep as I left for work and I drove to work hardly able to contain my excitement. We left work earlier and I told my brother-in-law the news and asked him to help me tell my husband. We bought a Halloween bucket, a small pumpkin I wrote coming 2020 on, a sleeper, and a small thing of peas to represent how big the baby was. He was surprised, happy, and understandingly apprehensive.
Then came the exciting part, telling our parents. We bought a camo onesie to tell his father who is an avid hunter. We had his mother who owned a bakery at the time ice a cookie that said #1 grandma and gave it to her. Then we told the woman who took me in and helped raise me, the woman I considered my mom. We put a potato bun in the oven. She sobbed, which was a reaction I wish I would’ve got on video.
The first sonogram was the most amazing thing I ever witnessed. I was about eight weeks along and she was perfectly healthy. I knew from day one I was having a little girl. We had baby names picked out for a long time. Athena Brooke Grace for a girl and Alaric Joshua Michael for a boy.
In December my suspicions were confirmed, and we found out we were having a little girl. I wanted her to have a name that carried strength, the name of a warrior. Little did I know just how prevalent that name would be.
I certainly didn’t have the easiest of pregnancies. I was constantly sick and then into my second trimester, the storm really hit. Anytime I would eat I would fall into extreme pain, a pain that makes you want to disappear and pass out.
We went to the ER and I was diagnosed with gallstones. A few weeks later, I had my gallbladder removed in February. It was mostly smooth sailing thereafter except for a mildly difficult delivery. She was mostly normal. She didn’t really enjoy tummy time, so I didn’t force it. She wasn’t behind developmentally and seemed to be an over-all happy baby. I know I’ll have other parents upset when saying this, but she would sleep an uninterrupted twelve hours. I noticed she had blue sclera from the day she was born but was told it more than likely would go away. This was the beginning of me having to learn how to advocate for my daughter and force doctors to listen.
I told her doctor about the possibility of Osteogenesis Imperfecta in my family, but felt mostly brushed off, and was told there was no testing that could be done. I’d like to preface this with the fact I don’t put absolute fault in the doctors at all. They’ve treated us amazingly and this is a very rare disease, one that’s only diagnosed 20,000 times in a year. I pushed again at our six-month checkup for us to get testing. They got us a referral for a genetics appointment in Birmingham two hours from where we lived. We ran into money issues and had to move in with my in-laws (something I will be forever grateful for) and I had to put off making the appointment.
Come December 23rd, everything changed. She was in her bouncer, something she absolutely loved. She would go crazy in it. She went up and came down wrong. I heard a crack and she cried. I picked her up and my medical experience kicked in. I checked her over. She had no bruising, no swelling, and seemed to calm quickly. The next day was Christmas Eve and she seemed okay besides favoring one leg. I still didn’t feel good about it. She would whine if you messed with it, but nothing would indicate a definite break. Her doctor’s office was closed and I didn’t think it warranted a trip to the ER.
So, we waited until the day after Christmas. She was still uncomfortable and favoring one leg. The doctor was hesitant to give her an x-ray, but I pushed for it. I knew it was more than just sore. They took an ankle-foot x-ray which came back clear of a break. I still had a gut feeling there’s something more to this.
On January 6th, things had finally settled enough to be ready to schedule her genetics testing. I was told it was either take her Friday or wait until April. The little voice in my head came back saying ‘take her now,’ so I made the appointment. Driving in big cities causes me anxiety so I made my husband go with me. I also did not know what kind of testing it was or how extensive it would be, so I was more comfortable with him there.
They talked with us and ended up deciding to do a skeletal survey which is where they take several x-rays of the entire body. She did fantastically and earned a trip to Build-A-Bear which was ten minutes away in the mall. We left being told we should get results sometime in the next week. We found the store and after about twenty minutes of debate, we decided on a bunny and named it Joshua after my brother who had passed away when I was younger since the next day was the anniversary of his death.
As we went to stuff the bear, I got a call. The kind of call no parent wants. I was told they saw positive signs of OI, but she also had a fracture in her leg. I was heartbroken, angry, and confused. How was this missed? Has she been in pain and we didn’t notice? We were asked to come back into the ER and they would have the orthopedic surgeon meet with us. I prepared myself for all the worst-case scenarios. Was she going to have surgery, how bad was it going to be? Could I lose my daughter from this? I knew OI patients that didn’t have a formal diagnosis were often confused for victims of abuse and I knew there would be questions.
We got to the ER and were quickly given a room. The Doctor came in and talked to us. He asked us how this happened, who took care of her, and checked her for bruising. The whole time I knew what was going through his head, he was making sure she wasn’t being hurt by us. It broke my heart all over again. I was terrified this could get misconstrued for something much worse than it was and we could run the risk of losing her.
He sat us down and told us she had a spiral fracture on her right tibia causing there to be three different areas of positive healing. Then came the part both my husband and I feared. The part where he told us whether he felt DHR needed to be involved. Luckily because I had been so persistent, I didn’t back down, and I trusted myself, we knew this fracture didn’t point to abuse but rather it was a symptom of her disease. It was then decided she had a long leg cast to help protect her leg while it healed.
The entire car ride we beat ourselves up. Our daughter had an untreated broken leg that we had been trying to encourage her to put weight on. You ask yourself how to do these things and start to believe you’re a bad parent. We both had to reassure one another that neither did anything wrong. Still, I struggled with my bad genes in an indirect way I hurt my baby. I would be lying to say that I got over these feelings, but I still have them. We have a specialist now and are getting her into the endocrine clinic. It’s going to be a long road, it may be scary, but we will make it through this. I will continue to advocate for my daughter to demand to be taken seriously and trust my gut. Athena is strong. She has the spirit of a fighter and it’s just my job to keep up with her.
The biggest piece of advice I can hope anyone takes from our story is to trust yourself, and it’s okay to ask for more. Doctors, like everyone, have flaws and it’s our job as parents or patients to advocate and demand to be taken seriously. I hope to watch my daughter grow to be strong and do whatever she puts her mind to. Her disease doesn’t have to limit her, we just have to be more careful. And when we think she may have broken something, take it seriously and get treatment immediately.”
This story was submitted to Love What Matters by Ashlynn Paymar of Geraldine, Alabama. You can follow her family’s journey on Facebook, Instagram, or on her website. Do you have a similar experience? We’d like to hear your important journey. Submit your own story here, and be sure to subscribe to our free email newsletter for our best stories.
Read more inspiring stories of children with rare and unique differences:
‘He is broken and breaking,’ the doctors said. ‘No hope. Always fatal. It would be kinder to terminate,’ they tell his mom and dad.’: Newborn with Brittle Bone Disease diagnosis defies the odds to become family’s ‘fighter’
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