Pallister- Killians Mosaic Syndrome

I keep updating this one post so it's going to be a long one. 
You probably saw on my Instagram or my sisters Facebook page that I was in the hospital yesterday, my birthday. Without getting too detailed (but you know I'm no good at that) the bleeding never really went away after I had Charlotte and while on vacation it started getting worse. Assuming it was my period I didn't do anything about it until we got home and it got a lot worse. Like, I started feeling lightheaded I was losing so much blood. I finally decided to get it checked, after hours of course, and went into the ER. Chris stayed home because Owen was sleeping. They did some blood work and needed to take a pregnancy test just in case. But due to the excessive amount of blood, a normal urine test would be tainted. So the nurse stuck a catheter in. Now, before you assume that's no big deal, let me just tell you, it's a big deal. When I had Owen I had one but I also had an epidural so it was actually quite pleasant. Getting one without an epidural is no joke. I cried.

Obviously the test came back negative, like I told them it would. So next was an ultrasound. The on-call doctor was a tired jerk. I get it, he didn't want to be there but did he think I did? He kept asking me why I came in right now of all the times to go in. Not a happy guy. After that was done and I left him with a huge bloody mess the doctor came in and said I had a Retained Product of Conception aka whoever did the c-section didn't quite clean it out all the way. 

He said I would need a D&C if this medication he gave me wouldn't work. This medication is called Methergine. It makes your uterus contract so that it will get rid of whatever is in there bleeding. He told me it would feel like labor but it would hopefully solve the problem. At first I thought "Labor? Are you kidding me? No, thanks." Then I thought, well crap if this is going to stop it, what choice to I have? So he sent me home with the drug and told me to take it and have Chris go get my Hydrocodone prescription filled, because I was going to need it. That scared me but I did. The ER doc had called Dr. Anderson and he said to call him later that day if the bleeding hadn't stopped. I got home around three a.m. and had Chris driving all over Orem and Provo to find a Pharmacy that was open 24 hours. Just so you know, it's the Walgreens right by Utah Valley hospital. 

Luckily, the Methergine didn't work at all. I had a couple small contractions but it didn't hurt. 
Finally, some mercy. 

We were both up until about five and slept until nine when Owen woke up. My sister (life saver) came and got him and we went right back to bed. We woke up around one and nothing had changed. I was still bleeding a ton so I decided to call and he said I needed a D&C. We went straight to the hospital, got all checked in and waited, surprised right? When the anesthesiologist (I didn't even have to spell check that!) came in he asked about our five week old baby. Apparently no one told him.. So I did. And then I told him it was my birthday. He asked me what would make it better and I told him I didn't want to see or remember the OR- last time was a nightmare. He said he could make that happen so when it was time for surgery, the nurse rolled me into the OR, I heard 80's rock and roll music, he told everyone it was my birthday and that I was getting the good stuff. I don't remember anything after that. Happy Birthday to me! 

Thanks to Susan for the very flattering picture.

 Okay- 
So I started this post a few weeks ago and I'm finally back from a little vacation to finish it. Remember how I said the feelings of depression and anger were coming soon? Well, they've come. 
My grieving cycle is rough- first acceptance then comes the anger and depression. 

It was nice to escape our real life, our to-do list and mostly our bills, but unfortunately we couldn't leave our emotions. 
Chris and I will have been married for a short five years next month and we decided while we were on vacation to just celebrate it there. We went to Universal Studios, Knotts Berry Farm, The Cheesecake Factory and the beach (several times). It was fun.. and hard. These are things that would normally make me ecstatic but I, (I should say we) still felt something was missing. Not just something, someone. My sweet, baby girl. Charlotte May. 

This little girl of mine is amazing. 

This time is so different, it's hard to explain. We miss her. More than miss, we long for, grieve for her. We miss Conor too, but we really miss Charlotte. I felt like I got to know her. She had a feisty little personality.  She was so active the whole time that I was blessed to carry her and I feel like we got to know her so well. Every night we'd put Owen to bed and sit on the couch feeling her move while watching Netflix.  Chris' facial expressions when he felt her were priceless. I dreamed of dealing with her personality in high school. She seemed so much like me and I was excited for the challenge. I thought for sure she would be dramatic. I would imagine her giving me all kinds of attitude when she didn't get what she wanted, in true princess fashion. In my head she was an overly dramatic little diva.

Turns out she really was.

Dr. Fung called me the other day. She was the Pediatric Neonatologist who was taking care of Charlotte when she was born. She called to tell me she got the chromosome and blood test results back. Are you ready for this?

Little miss Charlotte had Pallister-Killians Mosaic Syndrome (PKS). It's a chromosome abnormality when a there is a duplicate of the chromosome 12 that appears for no known reason. She is so special, she had not only one or two extra copies but four extra copies of the 12th chromosome. So, what does that mean? Well, to be honest, we're still trying to figure that out. Dr. Fung went on to tell me just how extremely rare this syndrome is. Remember when we thought the Diaphragmatic Hernia was rare? 1 in 4,000?

Well, Pallister-Killians Syndrome has been diagnosed less than 200 times.. worldwide.

We're talking about 1 in billions here. This doesn't happen. She, personally, has never seen this and neither have her coworkers. She said this was in a section of her textbook in medical school that the professor said they would never see. "It's just something you read about, not something you actually see". She was amazed at this, at Charlotte. The fact that she made it that far with all odds against her, was amazing. She thanked me several times for letting the University do the autopsy. She said they have gathered so much research already and they aren't done.

Pallister-Killians Syndrome is so rare there isn't a lot of research on it. After answering several of my questions, Dr. Fung continued, she said that Chris or I could be a carrier of an extra 12 chromosome, meaning, one of us passed it on to her. Before, if ever, we decide to try again we need to go through genetic counseling and get genetic testing done. Apparently, very extensive testing. If it turns out one of us is a carrier, we need to decide if it's worth the risk to try again. Because there isn't any real detailed information about this syndrome, she said, they can't even tell us if it will happen again or if this was a one time thing. It could happen to every kid we have from here on out or never happen again. She also mentioned that this could have been the reason Conor died. Talk about terrifying.
As I'm going through this post, adding and editing, I had typed "It's still sinking in". Well, like I said, it's been a few weeks now and it has officially "sunk in".

If one of us is a carrier of this syndrome it means that we could be done. At 23 years old. We've already lost two, I will not do it again. Trying again is way too risky to us. Basically, this genetic testing is our future. It could add a very devastating future to our already devastating life. As of this very second that makes me sad. That makes me more than sad it makes me cry. Coming from the girl who never wanted kids, this very possible fact makes me cry. It hurts every part of my heart, of my soul. It's taken me three years to come to terms with and learn to love motherhood and now it's being taken. I know "for a short time" and I "will see them again" and blah, blah, blah. That doesn't help.

The characteristics of PKS include:
-hypotonia (low muscle tone/ "floppiness")
-abnormal facial features (i.e. high forehead, broad nasal bridge, wide space between eyes)
-broad neck
-short limbs
-cataracts
-sparse anterior scalp hair
-abnormal hands or feet
-permanent hearing/vision loss
-high, arched palate
-epilepsy
-congenital heart defects
-Gastroesophageal reflux disease
-hypo-pigmentation
-cognitive/developmental delays (retardation)
-Diaphragmatic Hernia

Now, obviously Charlotte had a lot going on. As it turns out she had most of the above (look at her hair again, see how far back it wasn't growing?) Some are hard to tell because she would have had to live for us to see if she had them (i.e. autism, epilepsy, vision loss). With everything she had, she just couldn't do it. And even if she lived, that wouldn't be a life.

This syndrome is deadly and then you add the hernia and it just wasn't survivable. On one of the websites for PKS it says "Prognosis is usually poor. Death is often due to Diaphragmatic Hernia". Just from reading what I can find online, which isn't much, she never had a chance. Talk about dramatic. This girl knew she wasn't going to stay so she decided to take on everything she possibly could while she was here. Like I said, amazing.

Hearing all of this from Dr. Fung really relieved a lot of worry and doubt. I had been wondering if we had done the right thing. What if I had gone in sooner and caught it earlier? What if we kept her on life support? Would she have lived? The answer is, an agonizing no.

For some reason only known to God, she isn't supposed to be here. As I'm typing this, I actually remember feeling the acceptance stage before the anger and grief stage with Conor. This is familiar.

So I've had the first part of this post waiting to be finished for weeks now. They say "Time heals all wounds" and I guess whoever wrote that never lost a baby.

Leaving the hospital with flowers in my arms instead of my baby was probably the most devastated I've ever been. I'd never literally felt my heart shattered until that day. It broke in pieces after we lost Conor and somehow I was able to put them loosely back together but losing Charlotte completely shattered the broken pieces I had left. Everyone was just looking at me as we walked by and I couldn't even fake a smile. I wanted to either cry or yell and tell them to stop looking at me.

I've been feeling so empty lately. My arms have been literally aching. I wish I was sleep deprived from waking up every hour of the night with her, instead I'm sleep deprived because I can't stop thinking about the night we lost her. I wish so badly I could wrap her in a blanket and snuggle her on my chest. That I could smell her sweet baby breathe. I wish I could gently kiss her soft cheeks just one more time. That she could hold on to my finger with her tiny delicate hands. That I could twirl her coarse brown hair through my fingers. That I could dress her up in the adorable pink outfits I bought her. I wish I could hear her cry. I wish she was in the bassinet next to my bed. I wish I could hold her and tell her everything was going to be okay. I wish I could do that completely traumatic night all over just to hold her and tell her I love her again.

I should be overwhelmed by her. I should be desperately trying to figure out her sleep pattern and complaining about how tired I am. I should be taking her to the store and letting everyone "ooh" and "awe" at her. I should be feeling completely alone while nursing her in the middle of the night. I should be changing her outfit 100 times a day and doing laundry every hour. I should have little pink bows to place on her beautiful brunette hair. I should be posting way too many pictures of her on Facebook. I should be watching her grow.

 Instead I wake up every morning to a beautiful little boy and we play. I sit with him while he plays and I daydream. I dream about what I should be doing. I think about how much I want her. About how much she should be here. I think about what her and Owen would be like together. I think about getting after Owen for loving on her too much. I think about her safety next to him. I think about how overwhelmed I would be and how I'm not. I'm almost bored. Then reality slaps me and I realize this could be our life, our future. One sweet, sweet boy. One sweet, spoiled boy. And that's it. One.
 And two in Heaven.

I have this new perspective now. This perspective I've never known before. When I see the mom in the grocery store with one kid strapped to her chest and four in the cart, I see how overwhelmed and exhausted she is. I think about how much she needs a break. I think about how tired and lonely she must feel. Even though she is completely surrounded, she is lonely. I think about how she doesn't have any time for herself, how she wishes sometimes that she only had one kid, or rather about how easy it was with just one kid.  I think that she probably hasn't been on a date with just her husband in weeks if not months. And, I'm jealous. I'm envious, but also grateful that she doesn't have this perspective I have. Sometimes I wish she could though, just so she would be grateful for her five, beautiful, healthy kids. That she could see how blessed she really is. That she could remember, even on the hardest days, that she has kids. That even though they fight, they are alive. That even though they don't always listen, they love her. I've learned with this new perspective that you don't realize how blessed you are until it's gone. I've learned I have to count my blessings everyday or I will forget I have any. I'm not saying being a mom to five or three or even seven is easy. I can imagine it's actually extremely hard.  I'm just saying I think we should all take a second and count our blessings. Because I may look at her and wish that I had five healthy kids when others may look at me wish they had an honest, loving husband or a good, supportive family.

I keep getting told that this is the hardest thing they've seen anyone go through and that they don't know how I'm surviving. We all have crap but I can't tell you that mine is the hardest. It's the hardest for me and for Chris. But maybe your hardest trial is having five healthy kids. A dear friend of mine said that "No one gets the gold medal or the silver or bronze. We all have gold worthy trials". I guess what I'm saying is I miss my baby. And that hurts. I cry every time I talk about her. I wish so badly that she could have stayed with us. But I have Chris and I have Owen. And that's how I'm surviving. They are the reasons I am still trying.



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