Saturday, October 30, 2010

Noah's condition information

I know most people wont read this but I'm sharing it for those who are interested in this rare genetic disorder. My little boy will be fine with medical treatment for life but if this had gone undetected it could have caused him his life. It's hard to swallow the reality of it but I'm so grateful that it was caught early on and that he is doing fine. We give him 3 different medication 6 times a day and have extra stronger doses in case of emergencies. I am petrified of having to deal with an emergency situation, I don't want to screw up and endanger his life further. For now I'm only taking it one day at a time and pray that I never have to worry about things getting too out of control.

I'm just going to copy & paste from this website to give you the general info.

Congenital Adrenal Hyperplasia

What is congenital adrenal hyperplasia (CAH)?
Congenital (con-JEN-ih-tuhl) adrenal (uh-DREEN-uhl) hyperplasia (HY-per-PLAYzhee-uh), also called CAH, is a group of genetic disorders in which the two adrenal glands do not work properly. Children inherit
one gene that causes this disorder from each of their parents. The adrenal glands, located on top of each kidney, make hormones that are essential for body functions.
People with CAH lack one of the enzymes needed for proper function of the adrenal glands. (An enzyme is a protein that causes a chemical change in the body.) Without the enzyme, the adrenal glands may produce too little of the hormones cortisol and/or aldosterone and too much androgen. CAH can be severe (classic) or mild (nonclassic).

What are the different types of CAH?
There are two types of CAH—classic, which can be life threatening, and non-classic, a milder form of the disorder. Noah has Classic CAH.

Classic CAH, usually first found in infancy or early childhood, is the most severe type of CAH. In one form of classic CAH, called “salt-wasting” (meaning the body has trouble keeping the right amount of salt in the blood), the adrenal glands do not make enough cortisol and aldosterone. If not found and treated, classic CAH can cause shock, coma, and death. In another form of classic CAH, called “non-salt wasting,” the enzyme shortage is less severe. The adrenal glands make enough aldosterone but not enough cortisol.

Growth: Although children with CAH grow too rapidly, they may finish growth  prematurely, so that adult height is shorter than average. Balancing medical treatment to maintain appropriate blood hormone levels is often complicated in CAH. Untreated or inadequately treated children grow rapidly and may not reach their height potential, but on the other hand, those treated with excessive medication doses suffer growth retardation. Since over-zealous medical treatment is a major cause of poor growth, it is important to treat CAH children with the lowest dose effective in maintaining adrenocortical hormones in a reasonable range. Optimal levels of these hormones will change with age and sex. Although the topic of growth inhibition by excessive treatment has been studied in infants and young children, there has been no careful study of whether less stringent control at puberty is effective in promoting maximal growth. There is still only very scant information about experimental treatment regimens and how they alter adult height among CAH patients. (this portion is from this website, written by Noah's Endocrinologist Phyllis W. Speiser, M.D.)

Signs and Symptoms
In many cases, female infants are diagnosed at birth because they have ambiguous genitalia (external sex organs that resemble male genitals). However, they still have normal internal female organs (ovaries and uterus).
A male infant with classic CAH usually appears normal at birth, although he may have an enlarged penis. After infancy, boys with classic CAH grow rapidly and show signs of early puberty. If infants are not diagnosed at birth, several weeks later they may show weight loss, dehydration, diarrhea, and heart
problems. They also may vomit frequently.

The goals of treatment are to ensure proper hormone levels and promote normal growth and sexual development. Patients with classic CAH should have a team of health care providers, including specialists in pediatric endocrinology, pediatric urologic surgery, psychology, and genetics. People with classic CAH need medicines called glucocorticoids to replace the cortisol their bodies can’t take.
People with classic CAH, especially those with the salt-wasting form, also need medicines called mineralocorticoids. Newborns also may need sodium chloride (salt) supplements. Surgery can correct ambiguous genitalia in girls. Experts recommend that surgery be performed when the infant is 2 to 6 months of age.

Nonclassic CAH
Unlike classic CAH, nonclassic CAH is mild and not life threatening. Signs and symptoms might not appear until childhood or adulthood.

Signs and Symptoms
Signs and symptoms in both males and females include:
• Early development of armpit and pubic hair
• Rapid growth during childhood
• Early or severe acne
• Infertility or decreased fertility
Adolescent girls and adult women also may have:
• Masculine characteristics such as facial hair and a deep voice
• Infrequent or absent menstrual periods

Some patients have no symptoms and require no treatment. Others need low-dose glucocorticoids, but might not need life-long treatment.

What does the future hold for people with CAH?
With proper care, people with either type of CAH can live long and healthy lives. In the meantime, researchers continue to explore better ways to diagnose and treat this condition.

Thursday, October 21, 2010

Birth Story

I want to make sure I write this down before I forget too many details.

After having my bloody show on the evening of Thursday October 7th, 2010 around 7:45ish, things seemed to have gone slow and fast at the same time. I stayed calm since I wasn't having any contractions (that I could feel) and also because the bleeding was few and far in between.

Then on the morning of the BIG day, Friday October 8th, 2010 I went to the doctor's office around 10 am and was told that I was in early labor and that I should go straight to the hospital "to go have people", my doctor's exact words. The babies weren't in position and even my cervix was still very high, so we knew that  the C-section would have to wait a while since I ate that morning and decided not to go straight to the hospital, instead we went home and got our things ready. I wasn't in any major pain, just a slight back cramp, but the doctor felt there was no reason to make me wait it out since I was already bleeding and was almost 38 weeks. I agreed.

We got to the hospital and I was in a room by 1:00 pm being monitored. At that point they could see I was having contractions but not too close together, and frankly I didn't really feel much, my cervix was only about 2cm, the only thing I could feel was my heart pumping with excitement. In the next 30 minutes, things changed pretty fast for me. Those contractions were coming a few minutes apart and I was definitely feeling them. It was painful I wont lie but I know that I never got to a point where it was excruciating. Why? Because of the epidural, that's why. My doctor came in around 2pm and said I was about 3cm but they could clearly see my contractions going at it. She said to get the epidural now because I was going to need it for the surgery in any case and it didn't make sense for me to suffer the whole time, and again I agreed. Let me tell you, I found out at that moment that I was allergic to pain, and I think its important for everyone to be aware of that.

I got the epidural and was relaxing waiting for 5:30-6:00pm to come around since that was the scheduled time. The next thing I know its 4:30 and I was being prepped for the surgery. The whole time I was pretty excited and not nervous about the surgery, they even mentioned how calm I was...until I had a bad reaction to the anesthesia. Did it work? yes, but I could still move my legs and feet if I wanted to... I umm tested wiggling my toes. The bad reaction happened in my chest. From my neck to my waist I couldn't feel anything but heavy pressure, mainly in my chest. Jeff had to wait outside of the OR while I was being prepped so that made me anxious. Being aware of everything but not being able to move when you are a claustrophobic is not a good combination, I had a major panic attack. I felt like I couldn't breathe and as I got nervous about it my heart went crazy fast which just made me feel like I wasn't breathing even more. I was actually breathing, I had the oxygen tube in my nose and I knew it but I couldn't snap out of it. All I wanted to do was get up and walk out, I can't believe I reacted that way. They brought me the oxygen mask to help out but it only made me feel more trapped so they put it by my mouth and I was able to calm down with that, somewhat.

Jeff came in and things started happening. I kept asking Jeff to talk to me and he was being very sweet telling me that he loves me and that we were about to meet our babies and all that good stuff, except that it was the wrong thing to say to me. It got me excited and happy which was of course the purpose of the words BUT it also got my heart going faster which just caused a chain reaction of panic. When they brought Natalia to show me, I was sooo overwhelmed and I could feel my tears coming but couldn't even enjoy the moment because I had another panic attack. The same thing with Noah. When they were closing me up I was able to kiss Noah quickly, I don't know where Natalia was but I was OK for a little while. Then I saw Jeff holding them and I started freaking out again, I was like that for maybe an hour after. My mom was there and I couldn't even look at her without getting my heart/breathing completely out of control. I was so frustrated with myself. I was so happy and my body wouldn't let me enjoy it, I felt like a bad mother already knowing I couldn't handle seeing them. I was aware of all this but could NOT snap out of it. That extremely heavy pressure in my chest and arms from the anesthesia really screwed up my moment for me. It is the only thing I regret but not too much because without it I couldn't have had the babies, I was fine after the anesthesia wore off. The struggle in my head and my heart was the worst to deal with. In the end, I had my babies and I was good after the anesthesia.

Natalia was born at 5:06PM, 6 lbs 14 oz, 20 inches long

Noah was born at 5:08PM, 5 lbs 7 oz, 18.5 inches long

Wanna know something funny?
I always had October 8th stuck in my head as "the" day.... I was right! I kept saying I think they will come between 10/3 & 10/8... the scheduled c-section date of the 12th just didn't feel right to me, which is why I kept saying I didn't feel attached to it. I kept pushing Jeff to help me get things done before Friday the 8th because that was my day in my head, and I'm not making this up, my people know this. They may have thought I was crazy when I mentioned it weeks and months before but now they know I was right! I love being right =)

Oh, and I did play "Push it" to them on the way to the hospital!

Here are some quick pics of the day, I will add more later. With everything going on we haven't really been taking too many pics. That's changing ASAP.

Last pic with my table top belly

Minutes before I was cut opened

First pic with Daddy

First time I held Natalia

First time I held Noah

 My little darlings with their exhausted mother

 Noah (left), Natalia (right)

Natalia (left), Noah (right)

This is when they were coming home

Sunday, October 17, 2010

Very quickly

Noah came home today. He is stable.
I will explain more about the disease later. It sucks that he has it and its a lot of pressure to know that our little guy will need medication for life BUT as long as he is on it, he will be able to lead a normal life. I know you don't know what C.A.H. (Congenital Adrenal Hyperplasia) is and the consequences because its really rare but its not a good one to have. Details will follow later.

One thing I will say is that this has nothing to do with any previous "worries" the doctors had before. It is pure genetics. It is a rare gene that can affect the kids of two parents who are carriers. The pediatric endocrinologist was surprised that both Jeff and I have it considering our VERY different backgrounds, but unfortunately we have it and even more unfortunately its going to affect Noah his whole life. Hard not to feel guilty. =(

Friday, October 15, 2010

Noah is in NICU

This has been a long happy and sad week at the same time.

Yesterday was their first Dr. appt and we were told that some pre-screening for Noah came back a bit abnormal. I can't get into it but I'm going to actually copy and paste an e-mail Jeff wrote to his best friend.

I wanted to give you an update on the kids.

Natalia is doing great, she is basically back to her birth weight and eats, sleeps, and her bodily functions are all working properly.

Noah, on the other hand, was dealt a big surprise unfortunately. Yesterday was our first pediatrician appointment since we were discharged on Tuesday and even though the pediatrician thought Noah looks great and was progressing well, a blood screening test done at North Shore came back abnormal for hormonal levels that deal with the adrenal gland. We had two separate blood tests done yesterday, and after their results verified the initial data, we were instructed to bring him to the Pediatric Emergency Room late last night. The official diagnosis as of this morning is "Congenital Adrenal Hyperplasia" and could have been life-threatening if not tested for, there is a high mortality rate among boys who get this (1 out of every 5000 boys gets positive reading for some level of C.A.H.)

Boys have no outward appearance of anything wrong, but if untreated can lead to weight loss, dehydration, diarrhea, lots of vomiting, and major heart problems.

Classic CAH reuqires daily medical treatment for life (doc said Noah will probably need it for life over the phone with me), mostly steroids and salt supplements etc. His potassium level was 8 and 8.3 when it should be about 5.5 and his salt level went from 136 to 131, both in the wrong directions when they told us to admit him to the emergency room. From there, they transferred us from LIJ to North Shore's NICU unit where he is now. After drawing two viles of blood at 3 pm and 9:30 pm yesterday, they tried to stick him 6!!! more times for blood unsuccessfully before giving up for the day. They were, however, able to get him IV through his arm to hydrate him before continuing the bloodwork today.

I'm still researching this and will meet with the pediatric endocrinologist to ask questions and go forward with a treatment plan. It is outbound patient services with daily medication and normal follow-ups.

We can't believe our little guy who shows no signs of being sick. He is doing GREAT. If the other blood tests come back how the dr. expects, she says we most likely can bring Noah back home within 24 hours.

What a crazy week this has been, from welcoming our babies to the world, bringing them home, not really sleeping, and then having to deal with this. I can't believe how much love I have for them and how happy and heartbreaking this was for us last night and this morning.

---We are at the NICU right now, they did some more blood work this morning and the results are not on the good side of the numbers so he will probably not be coming home today or tomorrow. We still have to speak to the endocrinologist, she should be on her way back to the hospital. She is actually one of the top endocrinologist in the country that deals with CAH, so our little guy is in good hands.

We appreciate your previous comments and know that you join us in our happiness, now I'll be a little more selfish and ask that you send some extra prayers our way. Thank you.

Monday, October 11, 2010

My Twins Pics!

Noah (left) and Natalia (right)

I can only upload one picture from my phone on a post but you still get to see them both :)
Their birth story and details will come later... don't go getting mad at me (I can't get enough of them either), for now this is all you get :)

Natalia was born at 5:06PM, 6 lbs 14 oz, 20 inches long
Noah was born at 5:08PM, 5 lbs 7 oz, 18.5 inches long

We are all doing very good, they are 2 perfectly healthy little kids with very healthy lungs (I can assure you) and we are all expected to go home on Tuesday. Now I can take them to that meany ultrasound tech woman and shove them in her face so she can see that she CAN and DID make a mistake, they are healthy and I'm so happy I didn't let them bully me into any invasive procedure, much less terminating my baby boy. God is great and she is a biotch is all I'm saying....

Back to the point...
My babies are amazing, I love them, they love me (a mother knows these things), and we all love daddy :) well actually they seem to love him more cause they chose his birth month, his same Chinese zodiac sign (all tigers) and his looks. Its like me and my genes don't exist... the traitors! He is all about them and they are all about him, whatever, I have a plan. All I have to do is sabotage their love and attachment to each other and keep the pieces to myself, think it will work? Yeah... me neither :)

Friday, October 8, 2010

They are here!!!

My little miracles. My perfect gifts from heaven. My babies.

A series of unfortunate events has brought us to this moment....
My journey of trying to conceive was filled of heartbreaks. So many failed months, so many failed treatments, two miscarriages, and so many tears dropped because *I knew* that maybe God was trying to tell me that I was just not meant to be a mother. And I believed it for a long time. Even during this pregnancy, I will tell you that part of me always waited for that moment where things would go wrong because that's just how it is for me. Well I was wrong. And I couldn't be happier about it because holy crap I'm a mother! I have two beautiful babies to share with an amazing husband and I know that I couldn't be more blessed than I am today. Thank you God.

Jeff and I are proud parents to:
Our daughter Natalia Katherine and our son Noah Antonio.

Finally, I reveal their names.
Noah is a name that Jeff has always liked for his son. I personally never thought that this would be my son's name, I was actually thrown off when he first mentioned it years ago. But from the moment I found out that I was having a boy I couldn't see myself calling him by any other name. When I told Jeff this, he decided that this would be the name for sure.. he was confused between Noah and Jason.. but I think deep down we always knew it would be Noah. It means Peaceful, long-lived.
Antonio is a middle name tradition coming from my dad's side. For many generations, the men in his family have this middle name, including of course my dad, my brother and nephew (my sister's son)... so I couldn't break it, could I? I'm sure this made my dad very happy when he found out. It means Priceless. Yes, he is!
Katherine is a name we both always liked and to make it extra special its also Jeff's grandmother's name. It means Pure.
Natalia is a name that I always liked and luckily Jeff was on board when I mentioned it. I saved this meaning for last because its true... not in the literal way but for Jeff and myself. It means born on Christmas Day. We know its not December BUT this certainly is Christmas day for us because we have received the two most precious gifts EVER!

And for fun, here is my first and last belly shot of this wonderful pregnancy:

Here I am at 9 weeks
(Didn't want to jinx myself by taking any pics before)

And here I am at 37w6d 10/8/10

I had my bloody show.... & now going to the hospital!!!

20 minutes after I posted last night I had a very red visitor...
Bright red, like my period (surprisingly I still remember what it looks like), I wiped and wiped and wiped and it was all blood. Nothing heavy and it stopped fast. Then I bled every so often and definitely had light flow when I peed. I had some pain here and there during the day but I kept thinking it had to do with indigestion and ignored it. Anything new: yes.. these: slight headache, stuffy nose with some blood:, very slight back pain... but no painful contractions, nothing too much out of the ordinary, I was pretty much normal... until the whole blood incident.

I spoke to the Dr. on call and he said to stay put and keep off my feet unless things changed. He said that I should be OK and to call the office in the morning for them to see and check me out. Since the Dr. seemed to think I'd be fine and I was in NO pain I did not call anyone in the family to tell them, no need for anyone (mom) to freak out.

Now, this morning I went to the doctor... and I am in early labor... and I am being sent to the hospital. Kiddos still not in position so C-section will be sometime in the evening.... I ate this morning so we have to wait. But they want me in the hospital NOW. Peace out!!!!

Oh and I guess I was too quick to post last night.. definitely less than 4 days =)

Thursday, October 7, 2010

5 More Days...

..Or really 4 1/2 days until my C-section. It's pure madness!

As of my appointment this past Monday, nothing has changed. We are all good and there was no sign of me dilating, so Tuesday October 12th... here we come. I went from being anxious to being very calm. I don't know how I'll feel come Monday or Tuesday but right now I seem to be in denial. I know whats coming but I'm not ready to run like a chicken without a head.... YET....  let's see how I'll be this weekend. I mean, I am about to be cut opened, I am about to meet my babies, and my life is about to change forever.. no reason to panic, right? Right. I'll just stick to being excited =)

And before I go, here is one of my last pregnancy belly pics at 37w5d:
(I can no longer hold the dresses up to show my belly shape if I want to keep it PG)

Saturday, October 2, 2010

I'm officially full term!!!

I'm 37 weeks today, that's just insane for a shorty pregnant with twins!

To think that my body didn't want to get pregnant or stay pregnant for such a long time and now it doesn't seem to want to do anything but keep these babies inside. Or is it that they just like it in there? Either way, I can no longer say anything negative about my uterus, even if its to bring up the bad things it did in the past, it has more than made up for it. Amazing. There are so many twin mommies (I've been following them on message boards), that didn't make it past week 32, much less week 36, some didn't even have any type of issues during the whole pregnancy. And I'm still here. In the beginning a few of my doctors had told me I wouldn't make it too far, mainly because of my height/short torso and of course the GD doesn't help... but holy crap I actually made it to full term... and apparently going strong. Simply amazing.

Of course, if they continue to brew in there and show no sign of coming on their own, it means that I have 10 more days before I meet them. 10 more days max. I honestly don't know what to do with myself. All that sleeping I was into the last couple of weeks? I seem to have kissed them good bye. I think I'm getting too anxious for my own good. So much that I think my head is going to pop before my belly. Crazy!

Oh, and ladies! To address some of the comments. I wouldn't have my babies and keep you guessing if the babies are born before the 12th. I have a post ready to go just to announce that they are born and tell you their names, not sure about being able to add pics right away but I'll try. All I will have to do is add some small details and hit "publish" from my phone when I'm in the hospital. Or I'll have Jeff do it... we all know he likes to share exciting news with anyone and everyone, like the bagel guy. And I'll also be posting a comparison of my first belly shot with my last belly shot, whenever that one is...

Now, I'm leaving you with my 36 weeks belly pic: