Hi everyone!
I have been wanting to share this story for a little while now. For those of you who don’t know, that little cutie is my daughter, Sienna. She is 1 month shy of a year old right now! I have shared bits and pieces of Sienna’s Journey via Instagram/Facebook but there is more to the story. If you’re thinking this is going to be me rambling on about a ton of my emotions and things then… you’re right. Well sort of. Lots of updates on where we are now, 11 months into her life, are explained here with a little humor and big feelings. I wanted to write this as a way of having everything documented in one place for myself, but also, I wanted this to maybe help someone one day. I have connected with different people throughout our journey who have helped me in different ways. If I could say one thing to help someone else, then I’d be happy. Any piece of this could resonate with someone and I feel like moms being there for one another is a step above women being there for each other. So here goes…
It was a warm sunny day in August 2018… Just kidding! But really though it was August 2018 when we decided it was time to have a baby. I had been ready for another one and to have one with Kyle even before we got married but we wanted to embrace it being just us and being married for a little while before expanding our family. So, summer 2018 we decided it’s time. The first time, I wasn’t pregnant which I can say I wasn’t too mad about because it was my best friend’s bachelorette party. Then it was September and mine and Kyle’s first year anniversary and all I wanted to give him was a positive pregnancy test. So, I took a test the morning of our anniversary and it was negative. Now I was disappointed. Then 3 days later I just had this feeling that I should take another one, so I did, and it said PREGNANT!! Yayayay. We were so excited! We decided we were going to tell our families a month later on my birthday. In that month though, I felt off. WAYYYY OFF. I mean, I guess that’s normal, I was pregnant and hiding it from EVERYONE I’m closest with. I figured it was just a mix of feeling weird hiding it and the actual pregnancy. I had no physical ailments or sickness or any of the ‘regular’ symptoms, but I felt OFF. So, yay we told everyone, and we were all super excited. I swore up and down and left and right it was a boy. I was CERTAIN. And it was weird because this time I felt so strange but with Jordan, I still felt so normal while being pregnant but for some reason I still thought it was a boy for sure. Then we did our gender reveal and found out I was so wrong and all of a sudden, the off feeling only got worse. I was panicking. I did not feel connected to my baby at all. Something was soooo odd. I asked everyone who had a boy and then girl if the hormones and feelings were this significantly different. I asked everyone who had more than one if their second pregnancy is just so different altogether. I was anxious and on edge and very very worried I was going to have postpartum depression because of how weird I felt. I just knew something was not right. Something was very OFF.
So, the pregnancy went on and at week 30 baby was breech. FUCK. This rocked my world. She better flip. A c-section was NOT going to happen. I had Jordan natural with no epidural in a hot 20 minutes and that was EXACTLY how I was having this baby. Had to be. For 6 weeks this chick did not want to flip. I tried everything. And when I say everything, I mean EVERYTHING. Chinese moxibustion, hanging upside down, massage, yoga and the medical ECV procedure with the doctors. Girl did not budge. Okay. Csection scheduled. This sent me into a tailspin of anxiety, panic, tears, aggravation. I was beyond devastated. This heightened every feeling of possible post-partum. No connection. Not being able to breast feed. My body completely in shock. I did not know how to handle it and I let everyone around me know. If you spoke to me during this time, you know this consumed my every thought. Aside from the fear of having no connection to my baby, I did not want to be bed ridden for the day, have a bladder catheter in for a day, not be able to stand. I literally could not grasp the fact that I would have no control. I told my family and friends that NO ONE would see me in the hospital that day. No one will visit till I was walking and peeing in my own. Ha!!
Okay so here it is, the day. Csection day. June 4th 6:00am Kyle and I headed into the hospital. My hair was washed and curled. The morning was beautiful, and we were ready. We walked into the hospital and had no idea what was about to happen.
I stand by my hesitation about having a c section, by the way. They’re awful. Fucking awful.
(sorry if you’re about to have one, my thoughts and prayers are with you!)(and if you had no problem during yours or if you CHOSE this, then I question your sanity)
I get into a room and change out of my clothes and into a gown. It’s just me in a bed, Kyle and 3 nurses. They go over everything. My hospital bands. The babies band. Medical history, blah blah. Then. They have to put in the IV for fluids to go through you for an hour. AN HOUR. SO first of all I HATE IVs. Absolutely hate them. I don’t do well with needles like that. I start to panic. Where in my arm is the IV going? How soon after can I get it out? Is this woman good at getting a vein? Will I be able to use that arm? I’m a total baby when it comes to this. Now the nurses hate me, and I have to sit here with my own thoughts listening to the clock tick for an hourrrrrrrrrr. Big mistake.
I start crying. Taking deep breaths. Kyle is wondering what the hell he should do. The nurses are like ‘omg is everything okay?’
‘Yeah no, all good just have an IV and need to get cut open. No big deal’
Now it’s TIME. Omg writing this I’m feeling all the nerves again.
They take me down to the operating room ALONE while Kyle gets all dressed and scrubbed. I have to be in this room and get an epidural all by myself. An even BIGGER and SCARIER needle than the stupid IV one. Oy. I sit on the table and they bring this intern over to me for me to hold and talk to while I get the epidural. The girl was super sweet. She was all covered up in her scrub cap and mask and I look at her and see she has one green eye and one blue eye. Totally noticeable and now that’s what I’m staring into and all I can think is ‘this chick has two different color eyes. Do I tell her? Is this what we should talk about while I get a thick large needle shoved into my back?!?!’
Fuck. This.
I decide it’s best to ignore the eyes and start to breathe heavily and the anesthesiologist tells me to take a deep breath and relax. I do that and the needle hits and I flinch. Great. I ruined everything.
Okay, epidural is in and I’m lying on the table.
The anesthesiologist spreads my arms out and whoever is at my feet tells me “okay, here’s a seat belt for your legs” and she Straps. My. Legs. Down. What the actual fuck. I will never forget those words or that feeling for as long as I live.
Now there I am, crucified on the table hyperventilating, and I hear Kyle come in and all the nurses are telling him he’s moving too slow and his mask is upside down (LOL) Typical.
Okay now it’s go time! Doctors are now cutting me open and asking how I’m doing. Uh not that great. I look up and see the light and remember when I was little and got a tooth pulled my dad told me to look at the light and I’d be able to see the reflection of myself and watch them. Ummm not exactly what I want to see right now but now I can’t seem to look away.
More panic and now I feel like I’m going to faint. KYLE! I need ice. I need ice right now. Poor Kyle asks the nurses “uh, can she have some ice”. I think it was the doctor who answered, “we try not to eat during surgery”. Ha. Funny one. So, someone brings me a wet paper towel to suck on and put on my forehead and neck. You would think it would be cold ones. Nope. Hot. Gross. This is not what I want.
Pulling and tugging. Me staring at Kyle for him to calm me. I don’t even remember what he was saying but I kept trying to move my arms to my face and apparently that’s a no no. Got yelled at a few times for it.
Then all of a sudden, she was out. Being held over me and the doctor said, “she’s big and beautiful”. They weighed her at a whopping 10pounds 1.4 ounces! Woah baby. They cleaned her and suctioned her and the first thing I noticed was her little beauty mark on her neck and I tried to reach for her, but they took her away. They didn’t like her cry. There was fluid in her lungs, and they took her. They fucking took her, and I had to lay there still and get stitched. This is BS.
Okay now I’m all done, and they take me to recovery and have me pump and someone gets me my ice. Doctors come in and explain that she has to go to the NICU. She needed a CPAP and some other things. And then the attending physician comes to talk about her skull. “Her skull isn’t shaped properly, and she could have a prematurely fused suture. This is called craniosynostosis” he says. While my boobs are all out and I’m pumping. And can’t see my baby. And have no clue wtf he’s talking about.
Finally, I’m in my room. I can’t move my legs. I can’t pee on my own. I just had a major surgery. I’m bound to this bed and I have not seen my baby. For hours. Kyle goes down to her in the NICU where he can’t even hold her yet and takes videos for me. She was connected to endless wires. Has a tube down her throat and stuff up her nose. Nurses and doctors keep coming to see me and all I want to do is run to my baby. She was born at 8:20am and they finally took my bed in to see her at 9:30pm. This day was agonizing torture.
I think my mom and Jordan came to see me that day. Maybe my mother-in-law. Maybe my grandparents? Honestly, maybe the whole immediate family came that day. I think they might have, and I think all I did was cry to them. And weigh the options of having the epidural catheter out that day. I still have no idea how it worked. I hear so many different women talk about what they had after the c-section and whatnot. All I know is my legs were still numb and every time I thought too hard about it, it gave me an anxiety attack. Anyways, we, along with the anesthesiologist that came to see ‘the unstable girl who wants to speed up everything’ collectively decided to just wait for the morning.
Okay, now it’s 9:30 and I get to see my baby. I held her. While she was connected to all the wires and I could barely move, I held her. And I never wanted to let her go. I think we finally went back to our room at 1:30 in the morning. I got some sleep and prepped to get all catheters out. YAY! The next morning I got everything out. After some time, I was able to stand. Sienna got off her CPAP. We were doing okay. PSYCH!! I had a fever. Like a super slight one but it meant I couldn’t go into the NICU. This just set me off. From this point forward I was known as “the teary one” on the maternity floor. Yup. I cried at any given moment to any person that entered my room. I won’t bore you with the day by day antics but just know, they were not good.
Remember when no one was visiting me at the hospital? Yeah, truth! I only let our immediate family come. And they could see Sienna through the glass of the NICU but mostly it was me having a panic attack in my room crying to them and hating every second of everything. There were more conversations about her skull shape and what we were going to have to do moving forward. Googling it from the hospital room that she wasn’t even allowed to be in because she was down the hall on the NICU nurses schedule. And let me say, those nurses are incredible. Absolutely FANTASTIC. However, I despise their extremely rigid schedule. With a burning passion. I got into some spats with one of my own nurses about it. Everyone tried to steer clear of me but also had random checks on my mental state. They for sure thought I wasn’t well, a guess what? I wasn’t! But I wasn’t suffering from ppd. It was all natural emotions of a mother who just had a baby in a situation where nothing seemed to go right. The ONLY thing that went according to plan was having my BROTHER drop off my placenta for encapsulation and his story of doing it was a great laugh in the hospital 😊 Thanks J!
Saturday June 8th! Yay we get to go home!! That morning we got everything together and I was so so excited to get the fuck out of that place and never look back! Went through all the routine discharge stuff, with the nurse I butted heads with (yay). Sienna had to do her discharge stuff from the NICU and then there it was. Another problem. She failed the hearing test they give at discharge. Twice. Okay not the worst thing. Maybe it’s just fluid in her ears but that just meant we needed to see an audiologist at some point in the next month. Along with getting the hip sonogram because she was breech. And seeing the neurosurgeon because of the craniosynostosis. Got it.
We’re home. Jordan gets to meet his sister. Penny does pretty good for that first day. This is so great! By the way, I’m breastfeeding fantastically, I am over the moon in love with my baby, we are connected, and I am feeling physically great. Thank God! Still hate a c-section.
First thing to deal with is the neurosurgeon.
We go. It is in fact Metopic Craniosynostosis with Trigonocephaly. Which means, the Metopic suture – front middle of forehead one – has been prematurely fused. This is affecting the way her skull is shaped which in turn will affect how her brain grows. We cry, or at least I cry. I can’t breathe. I can’t function. We have two options. Correct it through an endoscopic method that is not too invasive before she is 3 months old. Or wait until she is over a year and have her go through a very intense procedure. Pros and cons – Endo method are less invasive with a short recovery time but requires helmet therapy afterward and it is still not 100% effective. CVR is lengthy, tough, but a one and done procedure where everything is fixed with no helmet. Our Doctor who is a brilliant and an amazing surgeon says that if you ever have the option to do this endoscopically, do it. All the research I did also agreed.
Now we go home, and I formulate a whole text to tell my family and send it. About 15 minutes later there’s a knock at the door. We just got home. Jordan just got off the bus. We are all relaxing on the couch in silence. The dog goes ballistic and I look at the door and it’s my poor aunt wanting to come in. I sent her home. I just couldn’t. I didn’t want to talk to anyone, see anyone. Nothing. Sorry Aunt Bern! I love you!
Okay so now that fades a little and we decide on the endoscopic method. Surgery is scheduled for July 25th. She will be 7 weeks old and hopefully that day comes and goes, and this is behind us.
Next order of business – audiologist. We go to that appointment and they do the same test the hospital does figuring there was just fluid in her ears and now it’s gone, and she’ll pass. Nope. Failed it. Do another test. Fail. Then they do an hour-long test that comes back that she has mild hearing loss. She’ll need hearing aids. Are you kidding? This tiny itty-bitty head is going to have to wear a helmet and hearing aids?? Someone’s got to be kidding me! I schedule an appt with an ENT to see why she has this hearing loss for some time in September. We have a surgery to do and I just can’t function.
In this time, I literally had been brushing off anyone who is not family. I tell my closest friends about Sienna of course but I just don’t want to talk to anyone. I don’t want to be asked “How’s the baby?!?!?!” and then either have to fake a response or dive deep into it all. I just couldn’t! There were so many things and so many layers and I just wasn’t myself.
So, here it is. July 25th – Surgery day. It was horrifying and awful but at the same time went so smooth and fast! She went in on a Thursday morning, was done with surgery in 41 minutes and we were home the next day. Thank you doc! Now we have to go to an orthotist for her helmet. No problem. Just add him to my rolodex of specialists, I got this.
We get fitted for the helmet and it arrives August 5th. We leave the helmet guys office with it on and I cried the whole way home. And he isn’t close to my house. That day was torture. The next day was torture. This tiny baby girl is in a fucking space helmet. I can’t feel her head. I can’t hold her right. I can’t nurse her comfortably. And yes, she has to wear it all day. 23 hours a day to be exact. The days in this week were worse than surgery day. No joke.
Meanwhile, sometime in august she gets her hip sonogram and its normal!! Yay.
Then, the audiologist calls me and says they want to do the test again. That they like to do the same extensive test about a month after the first one right before they get fitted for the hearing aids. Okayyyyy. I have nowhere else to be, I guess we’ll go do that. So, we go and do the hour-long thing all over again. And by some miracle (we personally think it was the surgery) SHE PASSES IT!! Goodbye hearing aids. Cancelled that ENT. This is exciting!
Alright so while that was fun, I started to notice that she wasn’t doing all the things I thought she should be doing. I know more than 5 people who all had babies right around the same time Sienna was born and I kept seeing them reach all these milestones. Sitting up, bearing weight on their feet, holding toys. I know you shouldn’t compare kids, but these babies were right in front of me doing all age appropriate things that my daughter was not doing. Anyone I said this to, including my husband, all said “she’s wearing a helmet. She just had surgery. She’s on her own path”. Yeah mhmm I know, but this is still not sitting right with me. I mentioned it to the pediatrician, and she agreed that she was right on the cusp but not too far off and to give her a little time. She also suggested we see a geneticist. They would put EVERYTHING together and see if there was any underlying issue. Okay, yeah that makes sense.
Soooo, we see the geneticist and he did a full physical examine and saliva swab. Now there are about 5 syndromes that coincide with craniosynostosis that I have looked at INTENSELY. Studied each symptom and every characteristic of each one and I knew she did not have any of them. The geneticist also felt like nothing was totally popping out in his head however, he was concerned about the low muscle tone. I knew it! Everything was submitted and we would get back 2 sets of results. 1 set that would confirm if it was one of the common cranio syndrome and another set from the microarray they took. This was an entire genetic screening of all her chromosomes.
So, while we wait for the genetic results, Sienna had a well check-up and I told the doctor that the geneticist was concerned with the low tone and she suggested to get her started in Early Intervention. So, I start that process.
Then, a few weeks later I got a phone call from the geneticist. I missed the call actually and got a voicemail from the genetic counselor saying that the first set of result were in! Sienna did not show any indicators of any common cranio syndromes!! This was great news. This though, was news I was expecting.
I think it was the following week that I noticed Sienna’s hand smelled like vinegar. Weird. So, into the pediatrician’s office we went, and she said that she would test her urine because anything in the saliva would be there also. Okay. Cool. Check the urine. Early Intervention was also doing their evaluations with Sienna to hopefully get approved and start services.
Then our world got thrown upside down
It was Thursday November 21st, 2019; I was headed to the bank for work and I got a call from the genetic counselor. I answered and she was all peppy and happy so I thought “oh great, the rest of the results are in and they must be good ones!”
In that same peppy voice and in one breath she said “Oh hi Mrs. Fricke. Sienna’s results from the microarray came in and there seems to be some concerns about some of the chromosomes and Dr. B wants to have you and your husband come in to talk to him and go over them, okay, how does next Wednesday at 11 sound?”
I’m sorry, what??? What do you mean concerns, what are they??
“Well there is a deletion of one chromosome and a duplicate of another and he would like to discuss everything. Wednesday, at 11, good?”
A deletion and duplication of which ones? – Not that I know a single fucking thing about chromosomes and genetics. But I do know these are not good results and this chick wants to get off the phone with me as fast as humanly possible.
“A deletion of the 9p chromosome and a duplicate of 15q. Mrs. Fricke, does Wednesday work for you?”
Yeah. Bye.
I hung up the phone, pulled into the nearest parking lot and googled. I know, I know. Terrible thing to do but let’s be real – You know YOU would do the same. You know it’s pretty much impossible to not use the internet and technology in this day and age. You know you’re thinking of possibly pausing reading this story to google it yourself and see what you find and if you don’t do it now, you know you are going to at the end of this.
There I was, in a parking lot with tears streaming down my face faster than I can wipe away. Going from one article to another at lightning speed so I can have some clue as to wtf we are dealing with. So many different things going through my head. I kept looking up into my mirror to see Sienna in her carseat. Her perfect little face, how could this be happening???
I calmed down as best as I could and called Kyle to tell him. Of course, he was calm and cool as a cucumber. I don’t know how but bless his soul. All he said was “there isn’t an earlier appointment?” Uhhh I have no idea, I didn’t ask that. “Well call and see. We’ll talk about it later.”
Then I called my best friend and tried to act as calm as Kyle was but that lasted about 4 seconds. I tried to explain through sobs and all she said was “Don’t look online. Wait till you talk with the doctors.” Thanks Al!
I went back into my office, went into the kitchen, put Sienna down and my friend said, “Are you okay?” I covered my face and shook my head no and sobbed some more. Then my mom came in the kitchen and tried with every fiber of her being not to cry, but she did, which stopped me from crying. Can’t have too many tears, that’s ridiculous, get it together ma! (Sorry mom, I love you) I quickly explained it to them and then left because, I’m sorry, I cannot work right now. I went home and called the geneticist over and over but all we did was play phone tag. That afternoon Sienna had the rest of her Early Intervention evaluation and as I was just getting ready for it, I got a call from the pediatrician. Remember her urine test? Well, surprise surprise, it’s abnormal. We get to see a nephrologist! Yay us.
That night we go home and tell Kyles parents and sisters. At 6:13 I had gotten a missed call with a message from the doctor’s office that they are trying to get us in at 11 TOMORROW but IT HAD TO BE 11 but I still needed to give them a call in the morning to see what the day looked like. Now, Kyle and I cannot make it ANYWHERE at the time we’re supposed to, but this HAD to work.
Friday morning was a disaster because Kyle had another doctor’s appointment at 10 in a town nowhere near the geneticist, but he’d been waiting for it, so he had to go. For whatever reason our brains didn’t work, and we didn’t know for sure that we could go see Dr. B so Kyle went to his appointment and I stayed home calling to make sure we could go there. Finally, I got through to them and they said we can come in, so I went to pick Kyle up from his appointment that he had to now postpone, and we drove to Lake Success.
That whole drive I felt calm. A weird calm. I figured once we got into the office, I would lose it. Once the doctor started talking to me, I’d be in tears. We get checked in and go into a private room. The doctor, the counselor and a counselor in training come in. Within the first 3 minutes, I managed to drop Kyles large iced coffee all over the floor and Sienna had a hunger melt down. We’re a mess.
So, Dr. B starts the whole meeting with a background lesson in chromosomes. (I so wish he could have done this for our whole family, lol). We get a general knowledge of how they work, the different parts of them, and what the testing Sienna did does to show us how hers are formed. Then he goes into her diagnosis. Still no crying. He explains that this is extremely, extremely rare. So rare, there is no actual name for it just 9pminus and 15q duplicate. He explains the coordinates of the chromosomes and how much is missing of hers and how much is doubled. Science is nuts. We’re hanging in there and just listening to this guy talk super sciencey stuff and then we go over the details. What does this mean for her? How does this affect her health and the quality of life she will have? Is there anyone we can compare this to? So, he happened to have a few articles of people who have something similar. The crazy thing is, there really is no other person with the exact same deletion or duplication separately, let alone have them both together. Yeah there might be someone with 9pminus but to have the exact same coordinates missing as Sienna has not been found. This is so new and rare that there are hardly any studies on this disorder. And the scary part is we have NO idea where she will end up. The doctor straight up looked at us and said, “hope for the best, prepare for the worst.”
What does this mean – Some of the physical characteristics associated with 9p- that Sienna does have are slanted wide spaced eyes, a longer space between the lip and nose, flatter nose, epicanthal folds, low set ears, raised roof of the mouth. Some of these things are more noticeable than others but don’t affect her in any way. However, the more worrisome symptoms are different organ anomalies. Heart and kidney being most common. Hypotonia, very low muscle tone, is a symptom. She could walk or she might not be able to. She might walk and then as she gets older lose the ability to. She could talk, she might be nonverbal. She might speak and then one day stop. She could have mild or severe learning disabilities. She might have mental retardation. Seizures are a common symptom to look out for. The 15q+ is associated with overgrowth syndrome. Explains that 10lb birth weight. Craniosynostosis is a rare symptom of 9p-. Look at that. One symptom could be hearing loss that comes back! All these things started to make sense and fall into place. All these things though were fucking devastating and scary. Yet, I have not shed a tear still. The counselor looked at me and asked, “do you understand what Dr. B is saying?” She seemed confused as to why I was so calm. I did understand. I very much understood everything, and it shook me to my core yet, I was relieved. I had had this cloud of uneasiness looming over me since the moment I found out I was pregnant, and I had no explanation for it. This. This is what I was waiting for. Preparing for. What I knew.
So, we packed everything up. Dr. B gave me his cell phone in case I had any questions over the weekend. We got in the car with all our paperwork and articles and results and invited our family to my parents’ house so we can tell them all that night. They were just as shaken up as we were. For our parents, this wasn’t just their granddaughter going through something, this was their own babies going through it. But let me tell you something. We could not have a better support system for Sienna. Each and every one of them are amazing and I wouldn’t trade them for the world. We of course had to whip out our fancy diagrams of chromosomes and do our very own lesson but they all pretty much got it, I think… lol. Now we can take all the right steps to help Sienna’s growth and development. Now we have some sort of answers.
Sienna got approved through Early Intervention in December and now gets physical therapy 2x a week, has her own Special Education teacher that she sees 1x a week, and right now has feeding therapy 2x a week that will eventually become speech therapy. She has seen a nephrologist and cardiologist and so far, so good!
Unfortunately, she does need another surgery on her skull. The helmet therapy was not helping the way we had hoped it would and her skull fused again. She needs the in-depth surgery we were trying to avoid but again, mama had a feeling she’d need it. We’ve had a few hiccups along the way, but she is getting all the treatments she needs. Every little milestone feels exactly like that, a mile! The little things she does that might come as second nature to another baby her age or even younger is a huge accomplishment for her. She is physically delayed due to the low muscle tone and that is becoming more apparent and noticeable as she gets older but, she is so alert, aware, social, and happy. I try not to let myself get stuck in the devastation of this because yeah, it is in a way a loss. I have let myself grieve the baby I thought I was going to have. The visions and idea of what I imagined it was going to be like having a little girl. And as she gets older things will get harder and I’m sure I will always be grieving something. But oh my goodness, have you seen my baby?! She’s a freaking little angel and I love her with every ounce of my being. I feel so beyond honored that her little soul chose me to be her mommy. That God trusted Kyle and I to be her parents and take this journey with her. She’s so sweet and innocent and a pure joy. Her name could not be more perfect – Sienna Joy. She’s my perfectly imperfect baby girl and I think, no I know I will be okay starring at her sweet face for the rest of my life <3