Ewelina Dalka – Mom Lifestyle Blog

Hi!

First off, I want to thank everyone from the bottom of my heart who continuously reach out to me and check in on our sweet girl. I use this space to write out her journey, which it’s going to be a long one.

Last Tuesday, we had our follow up with the eye specialist at UIC. We did decide to go that route because we truly felt that the doctors were amazing and genuinely cared about Mya and the action steps that needed to be taken for her future. It went great. He checked her eye vision and eyes in general, to see how they are developing for a 3 month old. He was very impressed, and let me tell you, Mya LOVED any objects they put in front of her, she loved the light they shined, it was awesome. They did numerous tests, like eye pressure, making sure she was able to see equally with both eyes, was using both equally, following objects, and a whole lot more. But good news is, she did great! We were told to come back in 6 weeks, because of how much a baby develops in the early months, it’s crucial as lots can change.

Then on Friday, I finally had my genetic counseling appt via zoom and I left that call crying. Not because something was wrong, but the thought of what it could be, terrifies me every single day and I can’t think about it or I will really not be okay. We are getting a sample kit sent to our home to get Mya’s sample in for genetic testing. There was 5 doctors on the call, which I did not expect at all. They asked me a ton of questions, including questions about my pregnancy, birth, family history, development, all the fun stuff. They talked in depth about what BPES is and regardless of what the result may be, she still has the condition.

The results could be one of three. Positive, Negative, or Inconclusive. If negative or inconclusive, we will talk about doing further more in depth testing. If you read my first post, I talked about BPES having two types. One affecting only the eyelids, and the other affecting eyelids and ovaries. Unfortunately, the results showing which type are slim, likely we will not know.

So what does this mean for us? Again, regardless of what the test shows, when Mya is 9/10ish, we have to take her to an endocrinologist. They will need to check and monitor her hormones because if she does happen to have type two, her ovaries will be affected. This means that when she gets her first period, she will end it (like early menopause) very quickly. So yes, this means she could have a chance of not being able to have kids. However, the medical world is always changing and improving, which if we get everything done soon, there is a possibility of her being able to freeze her eggs at a very early age, and then she will have the option of having her own baby through IVF. The fact that I have to think about this for her future, breaks my heart. She won’t even know what any of this means, and maybe she won’t want kids, but the option could be there. But really, no-one knows if that is even possible or what the outcome will be, until we reach that age and get her to an endocrinologist.

Why do genetic testing then? Because similar to Adi and her CF gene, Mya will have a high % of passing this onto her kids. So both girls when they are old enough to talk about this, is a conversation we will have to have, and the decision will be theirs on what they want to do based on the information given.

Today we saw the Oculoplastic surgeon at UIC. He was happy to hear that her eyes are doing well as far as vision goes. He checked on her eyes + eyelids and said they look good and are growing the right way, but he wishes that they were a little more open now. He confirmed with us that surgery is mandatory in her future, the question still remains, when? He said in a perfect world and if he would choose a time, she would be 2. However, he does not think we will make it that far, but he would love to wait until she is at least 1. This of course is determined on how our visits go with the eye specialist who monitors her eye vision and development. He asked to see us again in two months, when she will be 6 months. He apologized for the frequent visits but he said it’s something that needs to be monitored. He said even with surgery, her eyes will never be open 100%. If they were to open them fully with the surgery, she would not be able to close her eyes, and blinking is our way of keeping the eyes clean, and if she could not do that, that leads to a whole lot of other issues. He said honestly, surgery is needed absolutely, but it’s basically tampering with something that you’re really not supposed to tamper with, but there is no other choice.

He did mention he is working with a team of engineers to develop a technology to help kids with this in the future without needing surgery, but that it is well beyond Mya’s time. I am happy to hear that this is something possible for kids somewhere in the future.

So that is where we are. At home, Mya does so well. She uses her eyes the little that she can open, and she laughs, and smiles, and plays with toys, and grabs on to things, and looks at books, tv, whatever you put in front of her. She started coo-ing and baby talking so much. She seems to be developing so so good, just with little eyes. She doesn’t know any different, she doesn’t know that she should be able to see more. It breaks my heart everyday, but I know God is with us and everything will be okay.

I’ll keep you all posted as we continue on this long journey with our sweet girl.

xoxo