Ewelina Dalka – Mom Lifestyle Blog

My two perfect girls ❤

That is exactly what they are, perfect! I will forever remind them of this.

However, we did go through a few bumps and it’s something we are going to have a conversation with each of the girls as they get older.

Adi is a carrier of Cystic Fibrosis, I shared this story back in 2021 and I wanted to paste it here since it was written in real time:

“This story is very personal to me but I thought that like my other life experiences that I’ve shared, it connected me to so many new people with similar stories and helped a lot of people along the way. 

So here we go. When Adi was about 2 weeks old, I went to the bathroom and got a call from our pediatrician. They let me know that Adi’s genetic blood work came back that they did at the hospital. I knew this wasn’t going to be great news since you usually don’t get a call when it’s good news. They told me that her blood work came back positive for the Cystic Fibrosis gene. I had no words. My initial reaction was thinking about the movie “Six Feet Apart” — which is about CF and I just remembered how sad it was and how much they suffered. Immediately I was given a referral to a pulmonary pediatric specialist for further blood work to find out if she is only a carrier or if she has the actual condition. 

I walk out of the bathroom and look at my mom and start balling my eyes out. I go to Adi and look at her sweet face and continue to cry. How can she look so healthy and possibly be sick? Every negative thought ran through my mind. I had to speak to a genetic counselor for three hours prior to our specialist appt. She helped me understand what CF is (I’ve been googling everything about it since I found out!) and she informed me about the best case scenario and the worst case scenario. It was really hard. You never want to hear those worst case scenarios for your kids. I mean, some of what I heard was just awful. 

Stephen made me feel so much better. He made me stay positive the entire time and we knew that no matter what, whether she has it or not, we’re going to love her the same exact way. I just didn’t want Adi to suffer. We took her to the specialist and they had to take a lot of blood in order to do the further testing. She was a champ, and the doctor was optimistic based on her weight gain, no known family history, etc that she was going to be okay.

I immediately got tested and had Stephen get tested while we waited for Ali’s results. One of us had to be the carrier for the CF gene in order for Adi to be a carrier. When we found out I was negative, we were so happy because in order for Adi to have CF, both of us had to test positive for the gene. But, I still needed to hear it for myself and I couldn’t wait for her results. One random day, we got a call that she is negative for the condition. She is only a carrier. Now I shed so many tears, but happy tears.”

That was our struggle with Adi. What does this mean for her? She is perfectly fine. We all have different genes and be carriers for different conditions. It doesn’t affect you until you get together with someone who is also a carrier of that same gene. This is something we will have to have a conversation about when Adi is older. We will let her know that whoever she decides to be with or be sexually active with, that it is her decision whether she wants to check beforehand if they are carriers of the CF gene specifically. Because this puts their kids at risk. We will remind her it’s completely her decision on what she wants to do with that information. We will continue to educate her, and everyone and anyone else we come across how important this is. This is not a cold, this is not a joke, this is a very serious genetic condition. Yes, most importantly, Adi is healthy and happy, but someone else may not be so lucky. All we can do is share our story and educate others because you don’t realize how important something is or can be until it happens to you.

Now Mya’s turn. We weren’t as “lucky” this time around. If you haven’t read Mya’s story up to date, there are two posts you should read first “Mya’s Journey with Blepharophimosis Syndrome” and an “Update” one as well!

Once again, I had to spend hours on the phone with genetic counselors to talk about BPES. I am so grateful for their time spent educating me. This time around, we did not have to do blood work but it was a saliva sample. It took quite a few weeks to get back as they are extensive tests. With BPES, females can have either Type 1 or Type 2. It is very rare for the test to tell the type, science is getting better everyday so hopefully soon! SO, Type 1 affects eyelids alone and Type 2 also affects the ovaries. Random, right?

Well, we found out Mya has the very dominant gene (highest level) of BPES which means her kids (if she is able to have any) have a very high percentage of also having BPES, regardless of her partners genes. With the having kids issue, that is the unknown. Our next steps when she gets older, maybe 9, 10, we have to take her to an endocrinologist. The possibility is that she gets her period and almost immediately goes through premature menopause and ovary failure. If caught early, there is a chance we could have her eggs frozen so if she wants her own kids when she is older, she at least has a chance through IVF. There is just so much unknown and I struggle all the time with making decisions for her so early, I am just trying to do the best I can. We will cross that bridge when we get there, right now we are continuously getting monitored for her eyes. Her vision is still great and it’s not being affected so we will successfully making it to her first birthday without surgery.

If you know Mya, if you’ve seen her, she is the happiest little girl. Smiley, always waving, it’s all I could ever ask for. For both my girls. I will raise them kind but also strong, knowing we can handle everything that comes our way. We got this.