“Freya is sassy, sweet, silly and is always letting us know what she thinks. She smiles, laughs, plays, and keeps us all on our toes.”
We first recieved Freya’s diagnosis through a blood test called an NIPT. I was approximately 20 weeks at the time of this blood draw. I have always taken the test when offered just because I would want to prepare myself if the baby were to have a chromosomal abnormality or any medical issues. I only knew of Trisomy 21 or Down’s Syndrome. I hadn’t realized how many different trisomies there are and what that meant. I wasn’t expecting the call because my anatomy scan at 18 weeks everything looked healthy and measured on time. My OB. who had been my OB for both of my previous pregnancies, called and told me I may want to take a seat, I couldn’t have predicted what he would tell me. He said based on the ultrasound he thought this may be a false postive however he wanted to do a second blood test as well as a targeted ultrasound at another hopsital that had MFM doctors, as well as a NICU in the event that these resutls were accurate and we would need higher level of care.
I got the second blood test pretty quickly. We had to wait for the results. We scheduled the ultrasound at DHMC. While waiting for the second blood results and targeted ultrasound, I could barely sleep. I had nightmares. I cried so much. But I also really began to appreciate my two children and their abilities that were once frustrating and were now blessings. My son is loud and hyper. He is always running and screaming, even now. I am sensetive to noise. But once I began researching Trisomy 18 and reading that my baby girl may not make it to birth, it changed my perspective on so much. Looking back now I can see the blessing even then, but it didn’t feel like a blessing at the time. Everything I found on google and was told by my doctors made me so scared. I felt guilty. I could not wait for the ultrasound. I kept hoping it would show nothing wrong again, she would be healthy and growing on track.
At my first targeted ultrasound Freya’s father and my partner Dylan was on the road working. My mother went with me. In the waiting room I remember telling my mom that I was nervous, that I didn’t want it to be true but I just had this feeling. She told me it would be okay, everything would be fine. The ultrasound tech came out to get us. We followed her back. We got to the dim lit room I laid down, lifted my shirt tucked, my towel in to my pants and she squirted the luke warm jelly on my lower abdomen. She began the ultrasound, and at first everything was fine. I was happy to see Freya. But she began to measure her, and I noticed the measurements do not add up. I was approximately 23w4d. Her measurements were anywhere from 20-22wk depending on what part of Freya’s body she was measuring. I turned to my mom and told her I knew. The blood work was right, and I just fell apart, because everything I had read told me my baby was likely going to be born sleeping, and if not that I would not get long with her. The ultrasound tech tried her best to comfort me. She couldn’t tell me anything as that is the doctor and geneticist’s place. She was very kind and comforting and she actually became someone who is very important to us and who did my first ultrasound, my ultrasound when we were admitted at 32 weeks for a scare, as well as my very last ultrasound.
By the time the scan was through, I was a mess, my mother and I were walked in to the consult room. The MFM and a gentecist came in to review her scan. I was told they found, cysts on her brain, a 2 vessel umbilical cord, she was measuring very small, excess fluid, clenched fists, a strawberry shaped head, and her heart. That was the one that really hit me. Everything else didn’t sound too scary but her heart. At that point they didn’t know what exactly but they suspected some sort of abnormal anatomy. I was offered termination and told I would have to go to Massachusetts if that was my choice. I told them no. The doctor said that she understood but I had 4 days if I was to change my mind. The geneticist was actually kind. She was supportive. She refered me to SOFT. And SOFT was where I first found hope. I remember seeing Stacy and she was an adult and SMILING! I joined SOFT on FB almost immediately. I began seeing so many beautiful faces of living babies, toddlers, kids, and even adults. I found other woman who were pregnant around the same time and formed friendships and found a tribe of my people, my trisomy tribe.
I was able to have access to real research on our kids, see real life with our kids. I saw it was possible and began researching through SOFT. Through our handbooks and our community. I was able to learn that I would need to advocate fiercely for Freya. That I would need to be an expert and understand her anatomy so that I could make sure she got all the care and interventions that she needed to have a chance at living. And that’s what we did.
We were induced at 37w6d. I actually had to push to be induced a couple days sooner rather than waiting. My original induction was scheduled for a Friday. They had tried to push until Monday but I had asked to move it a day sooner. Their concern was she would be born on the weekend and they’d not have enough staff. So I said let’s do Thursday then. At this point her growth had slowed so severely her odds were better on the outside. That whole week leading up to my last appointment I had been growing more anxious and felt if we didn’t have her soon she may not make it, so I pushed for moving it to Thursday instead of postponing until Monday. The MFM hesitantly agreed. I was brought in Thursday evening to be induced. I did not deliver until SATURDAY! Freya apparently was determined to come during the weekend! After 40+ hours of induction she was born vaginally in the OR room attached to the resucitation room. She was brought to the resucitation room immediately and considered transferred to the NICU at 45 seconds of life. She was 4lbs 3oz 17in.
From there she spent nearly two months in the NICU. We had a cardiologist who withheld information and purposely tried to prevent her from getting her repair. Our home hospital does not perform open heart surgery on infants anyhow, but he still tried to stop her from being transferred by telling us we were denied and also failing to treat her for heart failure and not acknowledging that or that her cardiac status was declining. However thanks again to my trisomy tribe we figured this out and were able to have her transferred to Boston Children’s Hospital. They had consulted with us while pregnant but had thought Freya had a DORV, VSD and a bad aortic valve while in utero, so had not been optimistic about repair. However once born Freya’s cardiac anatomy, although complex, wasn’t actually DORV. She did have the VSD and a very dysplastic aortic valve, as well as a large PDA and PFO. Once Freya was transferred and went to the cath lab she was approved for repair, which she had at about 2 months and 1 week of age. 3 weeks later she recieved a tracheostomy and gtube.
She was later transferred back to our home hospital where she recovered and her dad and I learned all of her cares. Freya came home from the hospital at 135 days old.
She has had a few short inpatient stays in relation to her hepatoblastoma (liver cancer), but has mainly been home.
She had her liver resection (6.11.2020) she got her mediport (6.29.2020) and began chemo on (7.7.2020) and finished it on October 2nd 2020. So far she has had no evidence of disease found since.
It is so amazing to me to be writing this, to be able to give hope to other families. Freya is alive despite all of these obstacles. She is happy, and healthy as odd as that may sound. She really is. She is growing and learning every day. Freya is sassy, sweet, silly and is always letting us know what she thinks. She smiles, laughs, plays, and keeps us all on our toes. She loves to listen to her sister and brother read to her, and play upside downsies with mom and dad. We had prayed for just minutes so to be blessed with now 20 months of life is more than we could have ever imagined.
Written by Shawna Brummer, Freya’s mom