07/03/2024
Wow! Over 100 followers in one day. Y’all are awesome!!
I’m going to use this post to introduce myself and for those who don’t know Breias situation, I’ll post her story below as well😊
My name is Alyssa and I am Breias momma! I have 3 other kids. My goal here is to bring awareness to the blind and visually impaired, alstrom syndrome, genetic testing and insurance. We have a lot of things coming up this summer and future to help even more with these things. We are also working on a podcast! Excited to have yall and always appreciate the support.
Below is Breias story❤️
8 years ago it was a super cold morning but I got to the hospital to be induced at 6 am. It wasn’t really a quick process. Slowly getting stuff done one thing at a time. The nurse asked me what my guess was on timing. I told her she would be here by lunch time. Nurse said she wouldn’t get her hopes up for that quick of a delivery. Once they gave me the meds things started really moving. I got the meds at 10. My water broke at 11 and by 12:41 pm I was holding the most beautiful baby girl I had ever seen. The first thing I noticed about her was that she had reddish purple spots on her eyelids. I thought it was a birth mark but it went away. Some called it angel kisses.
3 months into loving our sweet girl I noticed that her eyes moved very quickly. I brought it up to her pediatrician and she agreed that it didn’t seem like a normal thing. She sent us over to Dr Bitner at Wolfe eye clinic. It was so hard to get a reading of her vision because her eyes moved so fast. We saw him a couple times, kept an eye on it. But then one day he said he doesn’t think it’s her physical eye. Maybe it’s her brain. He referred us to Iowa city to see a neurologist.
When we saw the neurologist she did a normal look at Breia. They thought they found some sort of tumor in Breia’s belly so we were admitted. Breia was ran through test after test. Then the oncologist came in to talk to us. They were scared Breia had nerve cancer. Neuroblastoma is what it was called. They ran more tests and after a few months ultimately could not provide us any sort of diagnosis. Then it was off to ophthalmology.
Her eyes are perfect. Her optical nerve, perfect. Cornea, perfect. So what the hell was wrong? Why did bright lights hurt her so much? Why did her eyes move so quickly? All I wanted was an answer. We did glasses for her to help correct her cross eye but we were at a dead end. We tested her for everything we could think of. Genetic testing was the only thing we hadn’t done. Insurance wouldn’t approve it because it “wasn’t medically necessary” - that’s a post for another time. A new ophthalmologist started and we got scheduled with her. She looked at B and she said “I know what’s wrong” I had never been so happy to hear those words. She did some testing and took pictures of Breias eyes.
Outcome - Breia was born with no cones in her eyes. These are your photoreceptor cells. They help you see color. Without them you see in black and white and that’s what causes Breias eyes to hurt in bright lights and everything is pretty bright to her. The doctor officially diagnosed her with a cone rode dystrophy and congenital nystagmus. But we still didn’t know WHY. Why was she born without cones? Why does she have nystagmus. The only way we would every get an answer was genetic testing
Finally after 6 years of fighting with the insurance company, we finally got approval. We went up to Mayo Clinic in August 2022. They took her blood, her dad’s blood and mine. They said they would call in 6 to 8 weeks with results. It was the longest 6 weeks ever. But the day that Mayo Clinic popped on my phone all I could think was “this is it. We are going to know today” I remember being excited a little just to finally know and start on some sort of treatment to help her. Little did I know how quickly that excitement would change. The doctor asked if I was sitting. Why? They only say that when something bad is happening. Swore it only happened in movies. But I sat anyways. The next couple of minutes were a blur.
Alstrom syndrome. A very rare genetic disorder that affects just over 1200 people worldwide, roughly. They don’t have exact numbers but estimates show the incidence as 1 in 10,000 to less than 1 in 1,000,000.
The words I could pick out from the doctor.. “Breia will most likely lose complete vision. She will most likely lose a good portion of her hearing. She could go into heart failure or organ failure at any given time. Diabetes, short stature, obesity, no treatment, no cure.” It felt like a movie.. where you can barely hear them in the background and your thoughts are elsewhere. I was speechless. She was just missing the cones in her eyes? How did this happen? Why my baby? The doctor told me if I need anything at all to call her anytime I need her. Even just to cry. She told me how incredibly sorry she was. We ended the phone call and I called Sean. He couldn’t understand a word I said because I was crying so much. He picked out a few of the things I said.
With this diagnosis Breia would be seeing a cardiologist, ophthalmologist, gastroenterologist, endocrinologist, otolaryngologist, audiologist, rehabilitation eye doctor, pediatrician.
All I remember doing is crying. I cried all the time. I’d hug Breia or look at her and break down. It took me months to get myself together. I was grieving my child’s life. Even though she was still in front of me. I thought of everything that would be different for her.
But then I realized how much of a difference we could make if we took this diagnosis to do good. So we started to put it out there more. Make alstrom syndrome more known. Bring awareness to the blind and visually impaired. I am so proud already how far we have gotten with this. We have connected with some of the best people and made such good friends along the way. And we are just getting started. I will never stop doing what I’m doing.
I don’t know how much time I have with Breia. I don’t know when her body will decide it’s had enough. But, I will never ever give up on her. I will make sure she sees all the things she wants while she can. I will keep fighting for more research. I will keep posting to remind yall of how we can help. I know what I’m doing doesn’t sit well with others. But until you have had a child with a disgusting disease that threatens their life, you can’t say you’d do it differently. I will go to the ends of the world to do whatever my children need me to do.
If you have read this far, thank you. Please continue helping me bring awareness to Breia and other children. To Alstrom syndrome, to the blind and visually impaired community, to all disabilities and to all the rare disease fighters out there. Some of the absolute strongest people I know and they deserve the support we can bring them.
❤️❤️❤️❤️❤️
