Trisomy 18

I have already given a small insight on what T18 is but I thought I should embellish a little bit more.

There is so much information out there, a lot of it being far from the truth. It took me a long time to really understand what was going on, every day Sloane spent in the NICU, I was getting more and more information from a new doctor. It took getting Sloane home before I finally started to understand and accept things. We got in our groove and I realized she IS different but line up 5, 10 or 100 "normal" kids side by side and not one of them is like the other, not even twins. So really, Sloane isn't "different". God made her the way He felt she was meant to be so its up to me to adapt to her and her needs.

Anyway, here's what Trisomy 18 is all about.

Trisomy 18 is a chromosome defect that occurs at conception. (Its very important that parents and everyone else understand this is not a hereditary thing, its purely a chance happening.) It occurs in one in every 2500 births and one in every 6000 LIVE births. A large percentage of babies don't make it through pregnancy, and the ones that do have a small chance of surviving once they are out of their mothers womb. Boys have a higher mortality rate.

I have read numerous stories of children living with T18, some even living well into their 20s and 30s, but because of such severe mental disabilities and physical handicaps, they are unable to live with out assisted caregiving.

There are a lot of characteristics that come with characterizing trisomy 18. Just like with downs syndrome (t21) there are mild to severe cases, meaning every case/child is different.

Typical characteristics include:

Heart defects such as ◾VSD (Ventricular Septal Defect): a hole between the lower chambers ◾ASD (Atrial Septal Defect): a hole between the upper chambers ◾Coarctation of the aorta: a narrowing of the exit vessel from the heart

◾Kidney problems ◾Part of the intestinal tract is outside the stomach (omphalocele) ◾The esophagus doesn’t connect to the stomach (esophageal artesia) ◾Excess amniotic fluid (polyhydramnios) ◾Clenched hands ◾Pocket of fluid on the brain (choroid plexus cysts) ◾Rocker bottom feet ◾Delayed growth ◾Small jaw (mycrognathia) ◾Small head (microcephaly) ◾Low-set ears ◾Strawberry-shaped head ◾Severe developmental delays ◾Umbilical or inguinal hernia

I must say that Sloane is very lucky in the sense that she doesn't have nearly all these problems. She had small VSD which has sense closed on its own & she no longer has to take any heart medication. She had esophageal artesia which was noticed immediately after her birth, and the first sign she might have trisomy 18. That was her first surgery at 24 hours old. She has clenched hands but after lots of physical therapy and my constant stretching of her little fingers, that no longer is really an issue. She opens and closes them all on own and even holds things much better now. Her ears are lower set, I like to call them her elf ears. As she has gotten bigger they aren't quite as noticeable, her face has filled out making the 'strawberry shape' less defined. She is behind on development however, but she is picking up on things very well. She focus' on me and all kinds of things very well, shes very alert and aware of her surroundings. She kicks her legs and flails her arms all over the place. At 8 months she is doing so well holding her head up all on her own, cant really call her a bobble head anymore! I have to thank her physical therapist for doing such a great job with her, and teaching me things to do with her and work on. As I said she is catching on very well! She is trying to roll over. I caught her rolled out of her boppy pillow one day smushed up against the couch, I have to admit it was very cute but scary! thankfully she rolled toward the couch and not OFF the couch!

She wiggles a lot in her crib, rotating a good 180 degrees. I wake up and look at her laying there thinking "That is not the position I put her down in." Shes so silly. Her new thing is talking. Well, the typical baby cooing. I can listen to that all day. its just as infectious as her incredible laugh, which for some reason my dad canget her laughing just by looking at her. It must be some secret Pake (grandpa) talent. I think I love listening to her cry and make noise mostly because multiple doctors and nurses told me she would never cry or talk. Well excuse me but I think youre wrong, my girl has quite the set of lungs on her. (go ahead neighbors, bang on the walls all you want about her crying)

two months to plan a party?!?!?

Sloanes birthday isn't for another 2 1/2 months but im frantic! I am horrible at planning stuff, it never works out like I think it is.

at least I finally decided on doing a baby Einstein theme. I have been all over pintrest, etsy, google, you name it I have searched there. I know how I want her cake made, just have to find someone to make it. any one know of a good place that's not insanely priced???

so I need a little bit of help though. its a first birthday party. she isn't going to remember anything but she definitely deserves a perfect birthday. there will be older kids coming so I need to make sure they are entertained of course. im thinking bounce house & piñata....

im trying to get crafty as far as invitations, party favors, & decorations go, without going over board. im on a budget here LoL I am also just thinking some finger foods, keep it simple. cant forget about the adults sooooooo I was thinking doing a happy hour deal for us that are of age. booze & cupcakes, my kind of party HaHa

im totally open to all kinds of feeback & ideas. ive never planned a baby birthday party, or any birthday party for that matter. also March is Trisomy Awareness Month, so im trying to think of how I can incorporate that as well. hmm.....? LOTS to think about!!!

a little bit about T18

I love just staring at nugget. she really amazes me. just by looking at her you would never know anything was wrong with her or she was what society defines as "different". I have to admit, I made a gorgeous child. not to be cocky or anything, I literally get stopped multiple times a day while we are out walking. random strangers come up & tell me how beautiful she is. that makes me soooo proud!! I made her!! took 9 months to perfect her, & yes she is perfect. im sitting here writing this, watching The Office, listening to her just coo & "talk" to me, telling me her stories, laughing.

I think I need to break down just a little bit. Sloane has Trisomy 18, better known on the streets as Edwards Syndrome. at conception, the cells don't divide properly, resulting in having 3 sets of the chromosome 18 instead of the normal 2 sets. trisomy 18 is pretty rare, 1 out of every 2500 pregnancies & 1 out of every 6000 LIVE birth. 50% of babies carried to term are still born.

for not knowing about this condition, these odds are scary. its more common in girls than boys, but boys have a higher mortality rate. LESS than 10% survive the first 12 months.

I was told repeatedly that Sloane was "incompatible with life" and that she would not survive long once I brought her home. I have never been more pissed off in my life. as a new mom, that's the LAST thing I want to hear yet that's all the doctors kept telling me.

for as long as I can remember, when someone tells me no, that to me says yes. so after 4 long excruciating weeks in the NICU, I told the doctors I was taking my daughter home. I didn't want to hear anymore that my daughter would not survive. well if that was the truth than she was gunna be at home with me, not in some plastic box. I talked to lots of people at the hospital, nothing made sense but I brought her home.

talk about being terrified!!!! bringing home a new baby as a new mom with a condition I knew nothing about. as I think back, it was all a blur. I didn't sleep for almost two weeks. I drank so much coffee because I was terrified to go to sleep, I thought she would stop breathing at any second & it would be my fault, because I closed my eyes.

she came home at 4lbs 3 oz. a bitty 17". connected to oxygen & on about 5 meds. I love that I can say at 3 months, I was able to take her off the oxygen tank. hasn't even needed a little bit since. and now she is only on 3 medications. the biggest thing was taking her off her heart medication. she was born with an enlarged heart & small VSD, which closed on its own. as of today she is only on acid reflux meds & phenobarbital, she doesn't have seizures at all, it actually helps stabilize her moods.

I cant wait to get more into what T18 entails so everyone is better informed but Sloane is settling down which means I must take advantage. so goodnight & please stayed tuned & bear with me. I will get the hang of this blog thing.