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.