Genetics appointment. **sigh***

  Yesterday we had Celina's first long awaited Genetics appointment. Instead of answers we now have many more questions. Yaaay.... (insert sarcasm here) I probably should have suspected this. I was just so sure in what I believed to be correct.
  So Dr. S started by asking all about family history, history of illness etc. Asked many questions about how shes eating, growing, development, medical diagnoses, all that good stuff. Then he looked miss Celina over.
  Dr. S then started informing me of her facial features that could possibly relate to a syndrome. Her  forehead being square with the Knobs on either side. Her mid-face being sunken in. Her Mouth small. Cleft lip, Not necessarily small or retracted chin, But something a little off about it, Droopy eye... I think that about covers it. He then started ruling out certain conditions/syndromes based on those and her other impairments/issues. I brought up CHARGE syndrome of course and he doesn't Seem to think she has it because her ears physically look normal. Instead he wants to look at 22q deletion Syndrome. Also called;CATCH22 Syndrome, Digeorege Syndrome, del 22 Syndrome, VCFS, and there are a few other names but these are most common. Del 22 is actually very similar to CHARGE. They both have a lot of the same presentations.

Left 22q deletion              Right CHARGE

  Ok. So this is where I get super confused. Celina's main Issues are presented more commonly in CHARGE vs. the 1% a few of them are presented in 22q deletion. Coloboma as the main example. How can you dismiss CHARGE based on the look of her ear, when there are some CHARGE kids with normal looking ears, its just not very common, around 1-2%, to then dismiss the Coloboma also only 1% in del 22? Especially when she has more CHARGE symptoms vs. del 22 symptoms? From what I've seen in looking up 22q The 1% of presentations of coloboma were iris colobomas. Celina's are Retinal. I of course sent MH from the CHARGE foundation an e-mail and asked these questions. Her answer made me feel a bit better. Im going to post what she said vs. trying to explain it! lol.

 

  This makes complete sense to me, BUT my gut is still telling me CHARGE. Maybe i'm in denial? I suppose I'm no doctor so we'll just keep going forward with the testing. Dr. S said If this is ruled out we will proceed with the more in depth CHARGE testing.
 We were supposed to draw blood for testing today but ran into a snaffu with our insurance. So once that is up and going smooth again we need to go back in for blood work. Everything should be straighten out within a day or so thank goodness! The blood test for this is thousands of dollars so they decided to wait just to be sure so we're not stuck with the entire bill ourselves if for some reason it wasn't able to be straightened out. YAY for more stress!! (you know what to insert here. yep. sarcasm.)

  So. Del 22 Syndrome. I'm not liking it. Basically its exactly as its sounds. the/parts of the Chromosome # 22 are missing. It can be passed down through genetics or more commonly just happens. I've done some research and based on what I've found so far it scares me more so than CHARGE does. Some of the issues presented with this are;
      -Immune deficiency
      -Auto Immune disorders
      - Psychiatric disorders: Schizophrenia, OCD, Bipolar, Anxiety, Depression, ADD.
      -Autism or autistic behaviors
      -Seizures
      -Kidney abnormality's
      -Learning disability's
      -delayed growth
      -Thyroid/Parathyroid/Calcium issues
    There are more but these stood out to me. Also I saw something about some people with del 22 having tumors on their kidneys or thyroid. Some have lymphoma or leukemia. Also there is a higher risk of Hodgkin's disease. Yikes! I'm not putting too much into this tho given its not a "common" symptom in del 22 patients the chances/risks are just higher. But then again if Celina does have del 22 and is the 1% with Coloboma..... anything is fair game.

 Why this scares me more than CHARGE:
I personally would rather have a physical disability vs. psychiatric. How scary to be stuck in your own mind? To feel hopeless? To have that sort of pain and anguish? I wouldn't wish that upon ANYONE! I was briefly diagnosed with bipolar disorder, but found my thyroid was actually WAY out of whack and the hormone imbalance was actually what was causing my severe depression and anxieties. I also have some family members with psychiatric issues and it's definitely not easy. Remembering my own feelings before we knew what was going on... Its not even explainable. Horrible feeling. Then there's the stigma. Yes there are people who just get meds shoved at them for every little thing. But this doesn't mean everyone is just pushed meds for no reason. Some people actually believe this. Because of the med pushing for any and every little thing, people now don't take those with a mental illness seriously. It's an actual real chemical imbalance in the brain. No amount of "eating right", exercise, "manning up", or "thinking positive" is going to pull someone with this chemical imbalance out of it. (It might briefly help. But the issue is still there.) Especially when your so down and trapped in your own head that the thought of going to the doctor for help worsens the anxiety! ! Ok im gonna stop the rant right there because I could go on all day about it. Maybe another time. I just really don't want this for my baby girl. My heart hurts just to think about it. On the other side tho, its so hard to diagnose and find the right meds, so a lot of it is trial and error. Sometimes the meds your taking/trying make things worse. Its just an all around bad time.
    I don't know a whole lot about immune deficiencies. I guess what springs to my mind when I hear it is. Weak or lowered immune system=sick more often. So that scares me as well.
    I just really hope this isn't what she has. So what if it turns out I am in denial. Im entitled to that for now right? Its all so scary. All of it. Even if its CHARGE its scary. I try so hard to understand. To understand her issues so that I can prepare myself for her life. To take care of her in the best way possible. So much so that I forget to actually live life with her. To do that I need answers. I feel like were stuck in this endless pit of questions. It so extremely frustrating. I just want to know. I want to know what to do. What can I do to prepare for her as she goes? I feel so lost and helpless. I can sometimes feel it in my chest. It feels like its literally imploding . Like heat starts from the center of my chest and rapidly grows and feels my chest is going to fold into itself. I hurt for her. I don't want Celina to have to deal with any of the hardships she is sure to have. I just really don't want her to have this. I worry about accepting this if it is our answer. But at the same time I don't want to force myself to accept it when we don't have a definite answer. I already thought I had a definite answer and look now. I pray if it turns out she does, I'm able accept it. Please pray I will be able to as well.

***I didn't go over and re-read as I usually do. I couldn't bring myself to. So if there are a lot of errors or if it doesn't make sense I apologize. PLEASE feel absolutely free to ask questions! (especially if I wrote it in a way that it doesn't make sense.)
 

It's the little things that push us through :)

   Aaaahhhh! I'm like dying of cuteness overload right now!! So I was playing with Neeners (Celina's nickname) and kissing on her fat lil' cheeks, when she giggled! the cutest little giggle on the entire planet!! I'm swooning! lol I know this may seem like its not THAT big of a deal. But this was her first giggle ever!! With her developmental delays and hearing loss, Its something I wasn't expecting to hear for quite a while. One VERY happy mamma right here. :D

  Earlier in the week, I think it was the day after my last post, A genetic counselor, who is also a founder of the CHARGE foundation, Got in touch with me. First we e-mailed back in forth. Sent her pictures of some of Celina's features and then she called me. We chatted about Celina and CHARGE syndrome for well over an hour. We discussed all of Celina's major Issues and the minor ones as well. MH (CHARGE genetic counselor/founder) was soooo informative! I learned that based on Celina's Coloboma, Heart defect, PDA, and Cleft, She has a definite clinical diagnosis of CHARGE. Not maybe. Not what if. They can (and most likely will) diagnose her before they even run anymore tests. What I had thought was, the test would give us a yes or no answer as to whether CHARGE was the answer. Turns out this is not the case. Just like any other "symptom", for example, Some CHARGE kids are deaf, some are not. Some have Breathing issues, Some do not,  The mutated chromosome is also just a "symptom". Only %60 of people who have CHARGE test positive for this. Here are some of MH's Exact words:" By "clinical definition" on paper, she already fits a definite diagnosis.  But we always want to take a look at kids - syndromes with similar features have a different "look." ". She then asked for pictures, which I sent, And when on the phone told me she doesn't have the "look" she was talking about for other possible syndromes. Which tells us CHARGE is the most probable diagnosis. My gut tells me this is 99.999999% correct. I'm Just so sure. I cant explain why. I just am. Everything just fits so perfectly into this diagnosis. I've already joined some online support groups that MH suggested. And reading all those experiences just cements it for me. A lot of the CHARGE children have more issues than Celina, some have less. It just makes so much sense. This HAS to be what Celina has. 

  Thursday we have our long awaited genetics appointment!! I seriously cant wait! I cant believe how long the wait is to get into one!! We've been waiting over a month!(Funny thing, MH actually personally knows the geneticist at Children's) We will finally have our answer. Though I feel I already know our answer, We will finally have a confirmed answer. I do wholeheartedly believe they will clinically diagnose her that day.  

   While I'm happy to have (or should I say will have?) answers, and the wondering is over for me. I'm still sad. I think those I'm close to get the impression (of no fault of their own. its how I hold myself to be perceived) i'm fine with this answer. And while in most ways I am, Deep down there's always that seed of hope. That maybe this is just a weird fluke. Maybe it isn't any sort of syndrome. And now that seed is gone. And I grieve. I didn't want this to be our answer. I wanted a different one. I just knew better. I still hoped though.On the other side of it I am so happy to now be able to move on. To now worry about whats BEST for Celina vs. Whats WRONG with Celina. We get to move forward in taking steps to give her the best life we can! While I'm sure there will be many bumps along the road. I'm happy to move forward instead of questioning everything. 

  Thanks again everyone for your thoughts and prayers. I cant thank you enough! If you could please continue to do so!

Here's a link to the CHARGE Syndrome foundation. Take a look! Very Interesting!
www.chargesyndrome.org?

Dont know why half of this is highlighted but I dont know how to get it off.

  

This eye twitch....

  We got celinas ears re-molded for her hearing aids today! This time were getting solid pink molds with purple sparkles, and pink tubing! Turns out the poor girl has a double ear infection  lots of goopyness in her ears! I scheduled Celinas nephrology appointment today (kidney specialist) and we will see them in January. Very anxious about it. My eye hasn't stopped twitching for about a week now. Very infuriating in itself. Think I'm a little stressed out. Not necessarily doing any better emotionally right now, but not doing any worse, so I guess that's a plus.

  

I had a wonderful lady reach out to me about Celinas situation, who has a son with almost identical issues. Her son already has a diagnosis. And that's comforting to know. It helps give me an idea of what to expect, what to ask for, etc. I seriously can't thank this mom enough! It felt sooo good to chat with someone who knows EXACTLY what I'm going through and how emotional it can be. It's one thing to know that there are others going thru the same thing. But to actually talk to someone who is, is a complete different story. It's just so amazing how caring a complete stranger can be and will chat with you for hours! Celina see's the geneticist next week! Cannot wait to get answers and move forward with what steps will go with whatever diagnosis she receives.

  

I would also like to apologize. I didn't call Anyone, family or otherwise, with Celinas news on her blood pressure. I just couldnt. I wasn't, and still am not ready to talk about it in person. I just end up breaking down again. And then the crying doesn't stop. And I don't like crying at people. It's just too uncomfortable for me. Im sure soon it will become a little easier. Please keep us in your thoughts and prayers. So thankful for support I have received.

And to end on a happy note, here's a shot of adorableness

Well... Now I'm Angry and defeated. Another look at the kidneys.

   Hello all!! Sorry its been so long since the last update! Been very busy still. Just throw the Holidays on top of that! Sheeesh! One tired Mama over here!

   So things have been going pretty good! We had Celina's ECSE (therapy) Evaluation report about a week ago. All the therapists (5), Coordinator, And public health nurse all came for a big group meeting to discus Celina's results and where she's behind or needs more improvement. Eli thought it was great to have a house full of strangers to show off and do somersaults for hahah! Anyways. The meeting went relatively well. Nothing came out of left field. thank goodness! The areas she was struggling in I had expected. Her fine motor skills are fantastic but her gross motor skills are definitely behind. She cant hold her head very steady yet and tummy time she can't really get her head off the floor. Of course with her hearing loss her social skills are also behind. Our plan of action is: Special education once a week. Physical therapy every other week. Deaf & HH every other week, And vision twice a month. Speech therapy wont start until needed. These ladies are seriously some of the nicest people I've met! they fought over who got to hold Celina the whole time :D

  We still haven't been able to get her hearing aids re-molded since Eli bit into the one. So she's been wearing just the one for now. On the 8th we'll finally get to Children's to remold! Dr.J had me look in my area to see if there was an audiologist who could do just the maintenance so I wouldn't have to go all the way to Children's every two weeks for a fifteen minute appointment. Let me just say, I can't believe how ridiculous it is, I had an Entire list of places to call who were closer than Children's, And NOT ONE would take an infant!!! So frustrating!

  So here's the part where I'm completely disheartened and cant even pretend to be positive about. Today Celina had her 4 month well child check. I brought up to the doctor that many times I've had a specialist tell me Celina has high blood pressure. When I would ask those specialists what it means, they just tell me "it has nothing to do with what they're specifically looking at" and that's that. Well. After about the 4th or 5th time hearing it I decided to bring it up to Dr.CL. I guess I thought because the specialists wernt looking into it (especially the cardiologist) I figured it probably wasn't anything too concerning otherwise they would be jumping on it. I was wrong. Dr.CL Looked at her charts and couldn't believe how high hers was on multiple occasions. He told me that there are 3 reasons an infant has high blood pressure. 1. Heart problems. 2. Kidney problems 3. No explanation. which he explained as there is always an explanation they just cant find it. So. He's Now sending her to a kidney specialist. We've already done extensive heart testing and her PDA is so small it wouldn't cause it. And she had an abdominal ultrasound where they looked at her kidneys, But Dr. said they can "look" completely normal, but doesn't necessarily mean there isn't an issue. So now were going to do more extensive testing. Renal Artery Stenosis is what Dr.CL wants the specialist to look for. Its where one or both of the renal arteries are narrowed slowing blood flow to the kidney. Which can cause High blood pressure that can then lead to stroke. Kidney disease or heart disease.
  Now I KNOW this isn't a definite. For all we know she can be completely fine. But seriously. Will it ever end? I don't know how much more I can handle. And this is one thing that can have a life or death consequences. I get to worry. and freak out. and obsess again until we have an answer. I thought I knew where everything stood with her after all the tests we've put her thru. To then be told they could have missed something? I'm just tired. So tired. I honestly don't know how much more I can take. I think I've finally broken. I don't know why I'm mad. Or who Im mad at. Im just mad. Mad at the world. I pray this anger passes soon.

**Forgot to add. Given all Celina's congenital issues. He's strongly believes we will find and see an explanation. Ruling out the "no explanation" option.

Week1 with hearing aids!

  Celina Received her hearing aids last friday! She's officially been hearing things for a week now!! Yaaay!!! She's definately a lot happier :)  at first she was extremely fussy, but that was to be expected. We don't know exactly how much she can hear yet. They wont be able to determine that until she is able to sit up on her own, and turn her head to sounds. Im very curios to know how much she is hearing. We get a reaction every time we put her aids on. The second they kick on she goes still and just stares and stares lol. Today is the first time I saw her flinch from a loud noise!! Seriously amazing to see her reactions to things. Even her behavior has changed! Like mentioned above shes sooo much happier! She'll babble and have a little chat with you lol also her cry and voice is significantly louder. She now has more pitches in her voice than before. I'm seriously amazed at what a difference something as simple as hearing can make. The things we take for granted right?

  Such is life, there are always negatives to go with positives. Luckily the positives outweigh the negatives in this case. The hearing aids can definitely be frustrating. Its quite the routine to put them together, test the battery, test the aids themselves, Put them on, put goop in her ear, try and get them as tightly in as possible, tape them into position... All that jazz. This happens after every nap and every morning. Evening is taking them apart, washing earmolds, blowing air through them to remove moisture, putting pieces in correct storage containers (to also remove moisture).... Its just a long process that I need to get used to. They also squeal quite a bit. If you cover the microphones on the aids they squeal. So that means holding her against you or her turning her head to the side. If they're coming out they squeal. Sometimes they just squeal. Lol I've definitely wanted to just rip them out sometimes. And they are LOUD. They're turned up so loud you can hear yourself talking thru them! And they are most likely going to be turning the left side up due to no reaction when just that one is in. They also fall out. Even with tape and all that. So... when they fall out and you don't notice right away, curious little 3 year olds end up finding them first. And apparently the sparkly earmold looks delicious because then said 3 year old needs to taste it. Yes. He just took a bite out of one. Thank goodness it was on an area where it did not affect the use of it, but still. how annoying. lol


   We're all definitely having fun experiencing this with her. Even Eli seems to notice somethings different with her. He hangs out with her and plays with her a lot more now. Maybe because he gets somewhat of a reaction from her as well. Its been a very emotional week. Sometimes its just so overwhelming. Just to much. And not necessarily in a bad way. I'm overjoyed with her hearing aids. Its maybe the fact that now she has them and they're so real. Not just something we're getting in the future. Theyre here. Sometimes this doesn't feel like my life. I'm just reading this in a book, or someone else's experience. Sometimes it just doesn't seem real. Like im living in a dream. And when it hits me that this is VERY real, I'm not necessarily sad... Im overwhelmed. Lost. Wonder how I pull through everyday. How am I doing this?? Then I realize I cant think about it too much. I can just do. I just do it. And live it. and one day It will just be my normal and I wont have to try not to think about it too much. I dont want to sound like i'm having an awful time and this is the worst thing ever. I think most of the time I handle it very well. Just sometimes this stuff creeps up on me and out of nowhere I'm sobbing and dont necessarily understand why. I think i'm just overwhelmed.

I of course had to bling 'em out :)

Hearing Video!!

Ok so this is not the first time she heard. We thought we were recording the first time we put them on her but turns out we weren't lolk. SO! After being asleep and having them off, I took a video when we put them back in! Still got a good reaction :) The first time She was fussing as we were putting them in and immediately stopped once we turned them on. She was looking around like "What is this!!!" Its looking like she hears more from her right ear than her left. So they'll most likely be turning her left aid up a bit. It was a looong appointment! I was taught how to put them in, clean them, take them out, test them, etc. I of course can't wait to bling them out! lol Anyways! Here's the video :D  If your on your phone this video wont work, use this link

 https://www.youtube.com/watch?v=LjR2OgNudjo

This week so far... ECHO, MNH&V, and sign class

  So this week has already been quite busy! Monday we had our first sign language class! Was definitely fun and can't wait until next monday!

   Tuesday we had B from MN hands and voices come to our house and kind of give us more information and resources for children who are deaf and hard of hearing. B herself also had a hearing loss, so it was fun to try out my signing with her. She brought Celina a snuggly handmade blanket that their organization makes, so we might just see celinas picture on the MN HANDS AND VOICES facebook page or their news letter. 😊 B also set me up with some family's in our area going thru what were experiencing, and is setting us up with a deaf mentor! Seriously can't wait to meet these people and hear their experiences.

  Today we had Celinas ECHO on her heart! Good news is her heart looks healthy! Yay! She does have a Patent ductus arteriosus (PDA) which is a valve that connects the aorta and pulmonary artery when baby is in the womb. Once babys are born it's supposed to close within an hour to a day or so after birth, but Celinas didnt. They're just going to keep an eye on it and if it hasn't closed on its own by the time she's one they'll go in and plug it up! So! Not necessarily bad news! I did look tho to see if it's associated with CHARGE syndrome and it looks like it is 😕 guess we'll just leave that in God's hands and worry about it when we get to it!

  We get celinas aids in 2 days! Will definitely be posting a video! Can't wait!

Busy Busy!

   So its been a pretty busy couple of days with halloween, therapy and all that jazz. Celina was a kitty and Eli was Harry potter for halloween! Eli definitely thought trick or treating was the Bees Knees. Celina just Snoozed in her stroller. We got lucky it was so warm! We all got to go as a family instead of one of us staying home with baby.

     Not much for updates yet. We have vision and special education therapy tomorrow morning and then I think were clear for the rest of the week! Yaaay! Ryan of course, is going north for hunting opener, but Celina and I will be at home helping my mom with her craft sale! Always fun and cant wait!!
   I talked with a lady from MN Hands and Voices and will be meeting with her next wed! She is deaf and also has twin daughters who are deaf! Cant wait to meet her! She is going to be helping us get in touch with other parents of deaf children in our area. Parents who know exactly what we're going through. They also plan many different deaf events and are a great resource for any info. Great Organization.

   So we've Been keeping at it with our sign language learning.... (is that a legitimate sentence? haha) and feel we've already come quite far. I keep using what I do know in daily conversation hoping soon it'll feel more natural. Ryan and Eli are still impressing me with how fast they're catching on. Ryan watches some videos with me. But mostly he learns by the question sheets I give him to quiz me on. Eli signs a new word just about everyday!! WE GOT THIS!!! :D :D :D

    9 more days till hearing aids!!!

Very interesting.

https://youtu.be/tJeAG8tZyf4

Deaf history and culture.
Very interesting perspectives.
I can't decide how I feel about it... lol there are some things I can understand and others I cant understand... probably because I'm not deaf... anyways. Thoughts?

 

Aaaad we begin....

  ...... To learn ASL. Lol. I feel like im learning quite fast!! Kinda surprised at myself! I've been doing online classes and watching videos yesterday and today. So now i'm trying to incorporate what I've learned so far into daily conversation. I feel thats the only way I'll be able to remember it lol. I even got Eli to sign a few words!!! And maybe best of all, Ryan learned the alphabet in about a half hour!! Very proud of my little family :)

   I also talked to the craniofacial team today. They asked for an update on her overall health, and I updated them on the bilateral coloboma and profound hearing loss diagnosis. She (her name is also cheryl) said they dont want to see Celina until she has teeth coming in. But would like to get me into genetics as soon as possible! She definitely stressed as soon as possible. She also says CHARGE immediately sprung to her mind. So I called to set that up AGAIN after cancelling once (before we knew about the coloboma) at their request to wait, To of course having the genetics team scheduler not being in. :( So I'll give it another try tomorrow!!!

   Celina is of course, still adorable and fat!!

Cochlear? Sign Language?

   So now I've had a little time to let this news sink in. Im happy to HONESTLY say we're still doing just fine. :) Maybe because deep down Ryan and I both knew. We definitely hoped it wouldn't be profound, but we knew. Parental instinct is an amazing thing. Even with her eyes! I had no clue, but Ryan had an inkling. One he didn't realize he had until after the results came. His exact words to me were " I guess Im not surprised. when I would wave my hands above her face she wouldn't see it. I just figured it was nothing."
     The not knowing for certain about the amount of her hearing loss was so hard tho. I came to dread family members asking if I was able to get a reaction. Because I wasn't. But what if that didn't necessarily mean she was deaf? I couldn't lie and say I had gotten a reaction when I had not. What if we came back and found her hearing loss was just mild? I would be causing unnecessary worry. What if they thought I was lying and was a sick human being and was just trying to get attention. Or making a big deal out of something that wasn't? And honestly these thoughts came because I originally though these of myself, to then really looking at myself and knowing better, to then realizing if I could think this of myself, others could think this too. It was an all around horrible time. So that being said, Were happy to have the news. Even tho its not the best news. Its an answer! and we can move forward with this! and I'm DANG excited!

   With answers comes realization on other things. For example I was given another book on hearing loss. In it there was this snip;
   "My daughter was so frightened by the darkness that she would scream herself to sleep if one of us was not touching her until sleep came. She did so many things different than our hearing child. What we had to realize was that her behavior, while sometimes different from the behavior of hearing children, was normal for a child who could not hear. Once we had that knowledge we were able to communicate better with her."
  This explains A LOT! Celina has been sooo hard to get to sleep lately! So fussy and seemingly in pain! I would always make sure it was dark when trying to get her down. Not realizing that to a deaf person Complete darkness means turning off her whole entire world! how did I not see this? Instead I thought turning out the lights would make her realize its time to sleep given she didn't get the cues from a quiet house. So tonight Ill keep the lights on and rock her to sleep. hopefully it helps! The rest of the quote is a good reminder to myself. And if I already expect it, maybe this can go a little smoother?

   Though we'ere ok and happy to have an answer. It doesn't mean our world hasn't completely changed again. I now have to look at cochlear implants! and believe it or not, these scare me. Obviously I want my baby to hear. But its not that simple. This is another surgery. So close to her brain! What if they don't work for her? Sometimes, for no apparent reason, They just don't work for some people. What if she does have a syndrome, and her mental capacity is impaired? Will she be able to go through and learn the extensive therapy of training the brain that comes with cochlear implants? With the brain training, what if I wait and let her make the decision herself? Will she resent me if the training turns out to be a lot harder because she waited? So while to many the answer is so easy and just a given. With Celina's circumstances the decision is HARD!

   Sign Language. This I definitely want to learn! I just hope i'm able to grasp and learn it well. Its its own whole language! I took French in high school and didnt do so well. lol. But maybe Because this is a way to have a conversation or communicate with my daughter, it wont be so overwhelming to me. Maybe it'll be exciting instead! Another reason I want to learn ASL, Cochlear implant and hearing aids run on batteries. What if they died and there was no access to more. They are like a mini computer, what if for some reason they weren't working properly for a period of time? How horrible would it be that her communication channel was completely cut off and we had no other form of communication? with our own daughter!!!
 
  Oh the things I never imagined I would have to think of... Or were even things to consider.

The Monday I've been waiting for...

Its Finally here!!!


    This morning started off with Meeting some of Celina's Therapists.  There was a Special Education teacher. She will be watching Celina's overall development including physical and motor development and trying to keep her on track with kids her age throughout the years. There was also a D/HH (deaf/hard of hearing) Teacher. She will be helping Celina progress with whatever communication method we choose, wether it be sign language, Verbal/Oral, Cued Speech, or Complete/Total communication (verbal and signing). A Blind/Visual impaired teacher who will help us with ways to use the vision she has to its highest potential and motor development etc. There was also the Initial intake facilitator, but she will be here only a few times here and there. The Speech therapists wasn't able to make it out today, so hopefully we'll be meeting her soon. These ladies are seriously amazing. They are so understanding and explain everything sooo clearly. They're also chalked FULL of many different resources that I cant wait to tap! In the blink of an eye they had been here for over 2 hours! I was a little disappointed our time was already up lol but I just need to wait until next week when they come again. Right now they're all coming together to establish a "baseline" or initial evaluation for Celina. From there we'll develop an IFSP (Individual family service plan) Where each teacher will work individually with her in their own area of expertise. Cant wait to see this in action and learn all sorts of new things to help my baby girl!

    Later in the afternoon we had Celina's repeat ABR to tell us exactly how much hearing loss Celina has after the fluid was drained by tubes. In order to get the best results Celina needed to be asleep for the test, it was recommend bringing your child tired and hungry. So I gave her her last bottle at 11;30ish and kept her awake until the appointment. She was NOT a happy camper. It was quite difficult to keep her awake! lol but I managed. Of course when it came time for the test I gave her her bottle to get her to go to sleep and She REFUSED! Little sassy pants was NOT giving in! finally about an hour later she couldn't fight it anymore and to sleep she went!

   Once the testing was complete, Dr.J gave us our results. Celina has profound hearing loss in both ears. She is completely deaf. At the first ABR they predicted she would have moderate hearing loss after tubes... Not so much. lol. I cant say I was shocked (banging pots and pans next to her head ring a bell? lol) But I was definitely surprised! I guess I thought if she was completely deaf she wouldn't make any babbling sounds at all and would sound very mono-tone. Dr.J explained, that will come around 6 months, she will start to sound very flat. Dr.J then explained our action plan. We're going to try hearing aids, and if those don't seem to work, (there's a strong possibility with profound hearing loss) we will then start looking at cochlear Implants. I don't know too horribly much about the implants, so looks like I have some more research to do! The hearing aids will be a lot of trial and error in the programing to see if they are working for Celina. She said if at about 7-8 months we don't notice a significant difference we will start looking at the implant. They also start putting them in at this age so works out perfect! Also, sign language, here I come!!! Nov. 13th she will get her first pair of hearing aids. They took molds of her ears at the end of her appointment today. I'm hoping sooo bad she will be able to hear me!!!

    So.... not to bad of a day! not the best news, but not the worst news either!

It could still always be worse. :)

 

Wheew! I can Breath.....

   So Just got off the phone with the doctor! Celina,s Liver and Kidneys look completely normal!!! So Ecstatic!!! I can breath again!!! November 11th we have her ECHO and Ill be holding my breath again. But given these results I'm feeling A LOT more positive of the out come :) Maybe we are extremely lucky and blessed, and this is the extent of her issues!? I pray that's the case! I cant begin to explain the overwhelming joy I feel at receiving good news! This time I got to cry happy tears :). Tears of relief. Thank you everyone for your prayers and thoughts. Please Continue to pray for us as we continue through further testing!

Up Researching... AGAIN! (Edited to add)

     I've got my trusty little sidekick here researching possible syndromes with me.She just doesn't wanna sleep tonight! we must be taking turns.  
  As I'm sitting here indulging in my love/hate relationship with google. I cant help but recall all the things that MIGHT be a symptom of something. When she was born her Skull bones (is that what you would call them??) were still overlapped and she had a very small soft spot. I remember The pediatrician saying even tho it was small, It was there and not closed, so she wasn't getting too concerned about it. But should we have been?? In fact her skull is still slightly overlapped. looks like another thing to add to the list of questions for Dr.CL. She has a few other slight things as well that Ill be bringing up as well. Hopefully they're all just symptoms of me overreacting vs. actually being an issue. You know how google can be. Every little thing is suddenly something horrific. Example: Reading that a symptom of one syndrome is floppy ears. I of course immediately check Celina's ears. One is just fine while he other doesn't seem to have much cartilage in the top portion. Let the worrying commence. Dang you Google!!!

   I'm really hoping I get the ultrasound results before the weekend. I've said it a million times and I'll say it again. Waiting and the unknown are THE. WORST. PART. At least when I know, there are actions to take and i'm not unnecessarily freaking myself out. If I need to wait until monday I might just lose my mind. At least I'm somewhat busy with FUN stuff this weekend. Ryan has a work party thingy saturday night. I was just gonna take the kids along. But today decided to spring for a sitter. I was able to get my younger sister to come stay over. WOOT WOOT! lol. Then sunday is church, so maybe it wont be so bad... but still it would be nice. Maybe Ill just give them a call tomorrow to get a general idea on when I might be getting them... I was given a direct line to my doctor. Huge plus! Now I don't have to do the whole run around thing where I call, leave a message. get a call back by a random nurse who asks me to basically repeat what I put in my message, to then have to wait on a call back again as she tries to hunt down an answer... uggghhh! always so frustrating. I guess that means things are a little more serious tho... Pros and cons. always hand in hand.

    I've been doing very well the past few days! It probably has a lot to do with how busy I've been! We'll see how it goes tomorrow when I have nothing going on and have time to REALLY think about it. Maybe I should find something to do.. I dont think im ready for it to sink in yet. And there's still hope her issues are at their extent. Dwelling on it might cause me to lose hope... yep. That's it. Gotta find something to distract myself tomorrow! Maybe Ill just go find a new good book or series to start reading! Suggestions? Reading is definitely one of my best escapes. Always has been!

   Welp. Now i'm just rambling so I suppose I should get this little punkin off to bed! Maybe I'll even get some sleep as well!?




    I posted a link that kinda shows why were now looking at a syndrome as a result of the coloboma.
https://nei.nih.gov/health/coloboma/coloboma
 
****Edited to add That I found this. Both are signs of CHARGE or fetal alcohol Syndrome, and I Definitely didn't drink. Celina has both of these, tho with the ear im only noticing one side :( http://www.modernhandreadingforum.com/t410-the-hockey-stick-crease-a-characteristic-in-charge-fetal-alcohol-syndrome

 

Its gonna be a long day...

  So its 5am and I still cant sleep. Celina has her abdominal ultrasound tomorrow, Or I guess it would be today, for her liver and kidneys. Im feeling pretty positive about the appointment, But I guess we'll see! Eli has been potty training for the past week, but is deathly afraid of public toilets. lol. Maybe it because they flush a lot louder? who knows... Anyways. So that being, all these appointments and running around is making potty training a little more difficult. After today tho we won't have another appointment until monday! so maybe we can get him back on track! Other than that hes doing very well with it!! Monday we have therapy and her audiology appointments. There are going to be 4 different therapists coming out to our house. And we will be meeting them for the first time. Im really excited for these ones! Im hoping they will be able to give us pointers on keeping Celina stimulated enough and different ways of interaction. The four different therapists will be; A deaf/hard of hearing teacher, A vision teacher, speech therapist, and special education teacher. They will be with us for 3 years and will then re-evaluate. Very excited to get this going! I believe they will each be coming out once a week to work with her, but suppose it depends on her initial evaluation and what they think she needs. The HUGE plus about these guys is they come out to my house!! Makes life a little easier :)

   I'll post an update when we receive results on her ultrasound. There is power in prayer and if I could please ask for you to keep us in yours :)

"It can always be worse!" and it was.

   Where to even start. My brain is swirling. My world has flipped upside down. what we thought was just a hearing loss with a cleft, is looking like so much more.

   Dr.CL sent us to an ophthalmologist to check out Celinas eyes. Just as precaution with her other issues. I almost cancelled the appointment. It didn't seem like there was any issue. she seemed to see just fine to me. I was wrong. She has a rare anomaly called coloboma in both of her eyes. The chances of this is less than 1 in 10,000!!! I was in absolute shock!!! The optimologist explained it this way;
"Its like a cleft of the eye. a hole in the eye where the tissue never formed." He then pulled out a picture of a retina and explained to me where the optic nerve was and Central vision. He explained that her "cleft" we will call it, went from the bottom of her retina and arched up almost touching the Optic nerve and came back down to the other side. That being the location means that her upper peripheral vision was completely gone. never existed. Think of wearing a hat where the brim is sitting at the top of your eye and was also a few feet long. That is what her vision is like. they weren't able to tell yet if there is any effect on the rest of her vision, as in near/farsightedness, so we go back in six months to re evaluate. I wasn't able to ask many questions due to the fact that I couldn't swallow and was trying desperately to hold back tears.

  That's not so bad right? If it was an isolated incident it wouldn't be. Our main concern now is that, in connection with the hearing loss, cleft, and Bifid uvula, These defects usually only present together in a Syndrome, other sequence or bigger issue. We talked to Dr.CL today and he explained that with most syndromes there are problems with the heart, liver and kidneys. Also the brain. I'm sure you can understand the fear that comes with that statement. I'm terrified. So Dr.CL put orders in for an Echo cardiogram, which is kind of like an ultrasound for the heart. An ultrasound for her liver and kidneys, and a referral to a neurologist. He also put a note in to the Crainiofacial team to get her to the geneticist a bit sooner. The plus side on receiving this news was, with a syndrome her issues as they are, its possible they may be the extent of them.

   CHARGE Syndrome. This is the first Syndrome Dr.CL is looking at. If you want to get really scared, go ahead and google it. If she were to have this, her form would be very mild. CHARGE syndrome comes with Colobomas, Ear problems/hearing loss, Deformations/clefts, Physical and mental retardation, Urinary Issues, Heart Problems, Skin issues, Liver and Kidney Issues, OCD, sensory issues,The list goes on. Not every person who has this has every single symptom, and the severity of them varies from mild to severe. I read on one website and my understanding (and I could be wrong) was that generally a child with 4 of the defects to be diagnosed with CHARGE. Celina has 3 so far with what we know.


   Ok. Now for the part where I  let my emotions out. I now know I'm making this blog public and people will be reading it so I'm extremely nervous. Anyone who knows me, knows how much I hate showing sadness or "weakness". I'm just horrible at it. I'm an excellent faker. Something about showing emotion makes me feel extremely vulnerable. when I'm alone is the only time I feel completely free letting it out. I know its not healthy to be this way all the time so here goes.

   I haven't been able to eat in 2 days. LH brought me cookies after hearing the news and that's the only thing I've been able to eat in two days.Sleeping is also an issue. I just feel nauseous. The unknown is just way to much for me to handle. I don't do well with having no control. With that comes my love/hate relationship with google. I'm constantly googling every little thing I can think of that might have a connection. The tears are off and on. I haven't had a complete breakdown yet. Nor a good ole fashioned bawl fest. I just tend to tear up here and there.  The stress is definitely taking its toll. Im snapping on Ryan over the stupidest things. Thankfully I have such a wonderful understanding husband. I cant speak for him, but I know he is having a very hard time with this as well. And as odd as it sounds, seeing Ryan break down comforted me a little. It reminded me that im not alone. Hes going thru and feeling every emotion that I am. Yes hes not able to be at every appointment, and be the one to initially receive and give the bad news. But its his daughter too. Im not alone. I just need a break. I just need to know my princess is ok. Please let her be ok.

Also feel free to ask questions!

I Think I've Gone Crazy!!!

   This is seriously the worst part. not having a definite answer yet. Seriously can the 26th PLEASE come any quicker? This waiting is driving me insane!!! So Celina got her tubes put in exactly 2 weeks ago. The Audiologist appointment to re evaluate her hearing is in another 2 weeks! at this appointment we will find out just how bad Celina's hearing loss really is. The wait is driving me nuts! I'm a huge control freak and the unknown and I just don't get along! So since her tubes have been in and fluid drained, there was a possibility of some hearing. Of course I'm trying with all my might to get her to respond to a sound. I clap, whistle, snap, and yell constantly!! Eli probably also thinks I'm nuts lol. while 99% of the time I get ZERO response, there are time where I THINK I see a reaction. But did she see the movement and cue in on that? Shes very sensitive to touch, so did she feel the air on her face when I clapped that time? Most claps result in nothing so that's probably the case. But still. Being unsure is just too hard for me. Ive been googling different hearing tests to do at home, testing frequency clips right next to her, scouring the Internet almost 24/7...you know. Things any sane person would do... hah! Anyways, today I think Ive officially gone over the edge. In one of my google surfing sessions I saw something about banging pots and pans. Yeah. No joke. I totally did it. The noise woke up Eli and my ears still hurt a bit. Celina? Not even an eye flutter!! And I had it right next to her head!! The second I lightly touched her face tho, she jolted awake. So... Think I have my answer???

Lets give this a shot.. the Beggining.

*LONG FIRST POST

 So I've never written a blog before. Or even read one. I have no clue how any of this works so please bear with me! pointers are welcome. I just need a place to let all emotion out! I could use Facebook, but feel its not the right place to express such emotion. I could talk to people, but most people I know, are way kind to ever express if they were sick of hearing it and I feel like that's all I talk about anyway. Even when I'm not talking about it, I'm definitely thinking of it. My daughter being born with hearing loss has changed my life. So! here I am.

  My daughter Celina was born Via scheduled C section, on a beautiful day at the end of July. I couldn't WAIT to meet her. Our little family would be even more perfect with a little girl. Her big brother Eli would no longer be an only child. So... bright and early and extremely nervous we headed to the hospital.

   The first sign of trouble was almost Immediately after she was born. The doctor showed us our precious angel over the curtain. she was so swollen and adorable! I actually thought she was fat. probably because I wanted a fat baby so desperately! they just have such adorable squishy cheeks and aaaah I Just adore the fatness! She turned out to be 7lbs and very petite. haha! anyways. about 30 seconds after they showed her to us they pulled my husband aside. Seriously! why do doctors do this!!! Its horrible human torture!!! There I was, strapped to a table, and they pull my husband aside! as if im not going to know something is wrong!!! I immediately started internally freaking out! did she stop breathing? is she blue? does she have downs syndrome? some horrible birth defect? My mind was racing! After what felt like an eternity they came over to me with my baby. I saw her and instantly had a feeling of relief. I could clearly see what was wrong. Just a cleft lip. "just a cleft lip" I kept repeating it to myself over and over. I had a distant cousin who had one when I was younger. So I knew it was something very fixable. And that Is where our journey began.

   We settled into our room and had so many visitors. I remembered thinking my daughter is going to be so loved! We are so blessed to have such a big extended family! Everyone cared sooo much and it was very heartwarming. Celina being born with a "defect" had won a soft spot in many peoples hearts. We cant forget that fact that regardless of the Lip she was absolutely gorgeous. Just perfect. We marveled over her perfection and how soft and sweet her little cry was. Her cry was silent at first. You would just see her face contorted and going beat red each cry for the first few hours. Then she started making noise. I wish I could describe how soft, quiet, and sweet it is. As a mother I was excited lol. she wasn't a screamer. No one likes the sound of a screaming or crying baby. Her cry was barely audible from a few feet away! I had no clue this was because she was not able to hear a single thing.

   On day 2 of Celina's little life they took her for routine testing. My husband (Ryan) and I started googling cleft lips and all it entails. we learned from doctors Celina did not have a cleft palate, that it was just high. we were very excited! this would greatly reduce the number of surgeries she would have to have. An hour or so after they took her for testing, they brought her back in. they let us know that Celina had failed her hearing test in both ears. She told us not to be worried and that many babies fail their first hearing test and they would re-test the next day. But something in me couldn't shake the feeling that it wasn't ok. Being one of the oldest of a family with 8 kids, having 12 nieces and nephews,  tons of friends with many kids, and being around large amounts of kids all my life, Id never heard of a child failing their hearing tests. So of course I started calling all my family members and friends, asking if any of their kids have failed. None of them had. If this was so common wouldnt I have heard of at least one? I then resorted to good 'ol google. I found many searches supporting the fact that kids born via c section almost always failed their first test. But also found that the ears, lips, and palate formed at the same time and hearing loss was linked to cleft issues. I didn't know how to feel. I was very uneasy. I didn't want to get my hopes up, but at the same time I felt I couldn't be devastated over something that we didnt even know for certain was an issue. The day went on and I pretended to be just fine. Kept fighting with myself that everything was going to be fine, yet having a gut feeling of just KNOWING it wasn't. For some reason I just KNEW. I cant explain it. Every part of me fought my gut instinct, wanting sooo bad for it to be wrong. The emotions were insane. My thoughts were crude. Like how tough of a life is my precious little baby gonna have? she already looks goofy. Shes gonna be deaf on top of it? shes gonna be the deaf goofy looking kid. To me she was perfect. To society? maybe not so much. My heart just broke. Its breaking again just remembering that feeling. Ryan took Eli at one point to go get lunch. I was alone and could finally cry. I don't know why I felt I couldn't cry in front of Ryan. I think I felt to guilty to cry about it. But I was finally alone and sobbed my eyes out. A nurse saw and grabbed the doctor. She was so so nice. She didn't sugar coat it and say she was gonna pass and be ok. She said even if she didn't pass, she was gonna be ok. and oddly that made me feel so much better. As I was talking with the doctor and still crying a little bit, Ryan came back. He just sat there and listened and teared up a bit. This is the first time we showed each other emotion about it. we had talked about how we felt, but seeing the emotion was so much different. I realized I wasn't alone.

   On day 3 we were set to be discharged right at supper time. Celina would have her 2nd hearing test right before we left. Acceptance of her issues were setting in and I was packing up getting ready to head home. The nurse had taken Celina Earlier while we went to eat down in the cafeteria. As we were packing up the nurse came in to take my vitals one more time before we left. I asked her if she knew whether Celina had passed her hearing test or not. the answer was no. The nurse gave us a sheet to give to our primary pediatrician, and told us we needed to set up a more extensive hearing test. Again she told us failing the second is also somewhat common. I remember thinking "that's such bullshit. This is not normal."

     Celinas Dr.(Dr.CL) referred us to an audiologist and ENT with Children's. I made the appointments for almost a month out. It seemed like an eternity to wait. I just wanted to know! I felt like I was in limbo. Not knowing was probably one of the worst parts. I would constantly snap and talk in her ear to see if she had any reaction to the sound. I would sometimes think I would notice a reaction, but would never know if it was the vibrations on my chest or her just seeing the movement. Most of the time tho I got nothing.

   The day of her appointment was finally here. My mom came with me. I didnt think I would need Ryan there, because I felt I had accepted any outcome. Also Ryan missing a day of work would make us very tight that month. Boy was I glad my mom was there. The Audiologist (Dr.J) told us she would run 4 different tests. I forget what some of them were called but the two I remember are a TAOE and ABR. She ran the first two tests and told us fluid was present in one ear and preassre in the other. She also assured us she only had about one paitent a year who turned out to have an actual hearing loss or issue. I started to feel better about the what the outcome would be. "Maybe it was just fluid". We then went into a soundproof room to do some more extensive testing. Dr.J was a lot less chatty now. Only saying little things here and there. I also noticed she kept re testing and re testing. we went over the alloted 2 hours for the test. Once we were done and came out of the soundproof room, she gave us our results.Celina had moderate to sever hearing loss in one ear and sever to profound hearing loss in the other. She was almost completely deaf. I didnt know how to process this. I thought she could hear a little at least! she could hear next to nothing! Dr.J then went on to explain that she thought Celina needed tubes to drain the fluid, and release the pressure. After this was done Celina's hearing loss would be in the moderate range. The hearing chart goes from Normal to mild to moderate to severe to profound. Dr.J asked us to tell the ENT (who we would see the following week) to get the tubes in before three months of age, so she wouldn't need to put Celina under for the next hearing test. Also to reschedule with her to retest to gauge the exact amount of hearing loss and set up for hearing aids. My baby needed hearing aids. This was now so real. I did not expect this swarm of many different emotions. Relief. Devastation. Anxious. Guilt. They just kept coming in waves. I was so lost. I thought I was prepared for this result! I knew my life was now changed.

    At the ENT appointment we learned so much more about her cleft lip. The ENT surgeon (Dr.L) did some check ups and checked her palate. He too saw no hole! yay! He didn't seem to want to talk much about Celina's hearing and was more focused on her lip. Makes sense given hes a surgeon. He set us up for her surgery 2 weeks out. He was going to fix her lip, insert tubes, and do a scope thingy up her nose to see the top of her palate just as a double check. the surgery would take about 3 hours. The day of the surgery came and off to the hospital we went! I was surprisingly calm. She went into surgery and we settled in for the wait. Some of both Ryan and my family came in support. A nurse called about every hour to update us on progress and how she was doing, which was nice. Everything went so well! I didn't get anxious until they told us she was done and we could see her when she woke up. I couldn't wait to see her! 45 min later she was awake! We could finally see her! The first thing I saw was her face. She looked so different! she was so beautiful. I was shocked to realize I was also kind of sad! This wasn't my baby! She looked like a completely different baby. I actually cried a little. Of course my rational side knew it was for the better. I couldn't stop staring at her. I probably stared at her that whole night.

   Celina has been home from her surgery for almost 2 weeks now. Her recovery is going fantastically! her swelling is down, glue came off, and the visible stitches have already dissolved! she looks fantastic. I cant believe how good of a job they are able to do! looking at pictures before the surgery I still get a little sad. I miss that little lip sometimes. It was a part of who she is. But now so is her fixed lip!So far I haven't noticed any signs of hearing. Dr. CL told me it should be immediate after tubes if she WAS to hear. So my gut tells me her hearing might actually be severe vs moderate. Im ok with that. Her next hearing test is on the 26th so we will no for sure then. Im not sure if she will get her hearing aids that day or what. I just cant wait for my princess to hear my voice!

   I plan to update as we go through this journey with all its struggles, milestones, achievements and emotions. I appreciate any support!