First Big Project

When I started being a stay at home mom I said I would take a month vacation… guess what? Times up!! Once I got my routine organized I began thinking about what I should do first and came up with 4 projects that really excite me, but my first priority was to schedule every possible future appointment for Natalia. Being used to track people down on the phone, but that only took 2 days of phone calls. So now what?

My second main concern for Natalia is her communication skills (in case you’re wondering her borderline Prolonged QT Syndrome is the first). Natalia is around the 3 to 4 month level in her communication skills, she coos and sometimes screams vowel sounds to get her point across. She still uses primarily the aaaaa’s, no consonants yet. Although most of the time I understand her queues, I can tell there is a level of frustration when there is something I don’t get right away. She’s started to pull her hair softly when this happens, or gets very worked up. Now, there are a few reasons for her to be at the 3 to 4 month stage, one is that she has some hearing impairment. To address this we’re waiting for her tubes to be placed in her ears at the end of March and after that she can have the much waited for BER & ASSR. All this is needed to proceed with hearing aids that will ultimately help her hear well.

Now, I’m not fooling myself, I know all too well that this is no guarantee that Natalia will magically start talking when all this is taken care of since one of the characteristics of Cornelia de Lange syndrome is the absence of words to communicate. But she will have a better chance at understanding her surroundings and I’m sure that will make a huge difference. Fortunately there are other options to help our kids communicate, like sign language. So there is my first big project: I have enrolled in a college course: American Sign Language for Infants and Toddlers, I start the April 1st!!! It’s a 2 hour once a week 3 month course focused on signs that target communication with infants and toddlers with or without hearing and speech impairment. I’m very excited!! It’s been a while since I finished my Master’s so I think I’m quite rusty in the study department. But the level of motivation I feel is almost overwhelming. I can’t wait to start!

Tough call

We had a Cardiology appointment where very troubling news was confirmed: Natalia has borderline Prolonged QT syndrome. Her EKG score from the Holter monitor was 460, and anything between 440 milliseconds and 470 is considered borderline Prolonged QT. The more I read about it online the more upset I get about and it confuses me because her Cardiologist told me that there was no imminent danger, so who do I believe, the doctor or the internet? The bottom line is that she can never have any type of anesthesia without being in a controlled environment, that means being able to monitor her vitals and having a defibrillator handy and someone qualified to use it. Just thinking about re-living the single most dreaded event we have ever lived (Naty’s cardiac arrest last year) makes me sick to my stomach.

This brings up all sorts of issues: her hearing test was cancelled AGAIN (this is the 3rd time!!) for two reasons.
#1 still has fluid in her ears
#2 they sedate kids who are over 1yr with chloral hydrate but NO T in a “controlled environment”

So here comes the tough part: she needs to have tubes put in to drain the ears; this means general anesthesia= S C A R Y
After that she will need to have the hearing test again but in a day surgery ward, even though her sedation will only be chloral hydrate = S C A R Y

The only other alternative is for her to not have these procedures but that would mean that she would never have a fair shot at hearing better thus being able to communicate by speech. It's an extremly dificult desicion to make but Juan and I feel that we should trust the Cardiologists (we spoke to 3 of them) and give Natalia a fair shot at verbal comunication.

I feel all I can do is pray that we’re doing the best for Natalia and that these procedures work out perfect.

Say Aaaaaa

So these are the little suckers that've made my peanut's life imposible! I'm glad their finally out, although I know the bottom ones are only the beginning...

I might burst

I'm so proud of my Naty.

Here she is doing her favorite thing now a days (don't mind the gtube dragging along our hallway):

She enjoys other kids and wants to play with them (I think she desperately needs a little brother or sister) ;)

PT has done amazing things for her , she's come a long way.

She feels she's such a big girl, she doesn't want to be laying down for long periods of time and fusses until someone either sits her up or helps her walk around.
This is a cool gift she got from a family friend. The pony actually makes neighing sounds and moves his head and tail. Natalia loves it. We've named him Pinto.

O my gosh, I *heart* this girl so much!!

A New Beginning

I am no longer a working mom. (almost 3 weeks now). The company where I worked downsized and it was an obvious choice for them to cut the person who asked for the most permissions (I always tried to go to Natalia’s therapies and appointments). It ended up a very friendly parting, I worked there for 9 years and they we’re very generous with their compensation. But it was still completely shocking to arrive to my office and start with my morning routine and then 1 hr later get a call from the boss to go up to his office and be told “we’re going to let you go”. This was definitely not in out plans; I wanted to stop working until I had a second child. But if having our precious baby has taught me one thing it is to roll with the punches, so after two days of complete bewilderment I slowly started seeing this as a great opportunity. Don’t get me wrong: I didn’t work for pleasure. But, after sitting down with my husband to talk and make some budget adjustments, we concurred that we can live well with only my husband’s income. So this officially makes me a stay at home mom.

So everyone would think I have all this extra time to blog: um NO! At least not for the moment (although I want to). I am still in the process of learning to organizing my time, which is resulting to be quite a task. Staying at home makes time fly by, when I realize it’s already 11am and I haven’t showered. Then I feel bad thinking that by this time at work I would already have been thinking about lunch plans… and here I am in sweats and not have had breakfast. I know it’s a matter of getting used to, but I haven’t been able to kick off the feeling that these are vacations. So I have officially given myself a month of vacations: no thinking, no official plan making, just chilling (or trying to chill).

Of course the reason we decided I’ll stay at home in Natalia. I’m soaking up every second with her. We have increased early intervention home visits; I’m working on her feeding, since she’s stopped wanting anything by mouth and just basically focusing on her 100%, being able to do this is a true blessing.

Unexpected news

It’s been cold and rainy the past few days so we didn’t do much this weekend, just stayed nice, toasty and dry at home. But today we were forced to take Natalia out since she had a follow up appointment with her GI doctor. So I bundled her up to face the cold (no hat of course).

She had an upper GI test a few weeks ago and we were given the un-official results then and there that her Fundo is holding up perfectly. We were thrilled and that’s what we were expecting to hear in today's GI apointment, so it was a complete surprise to hear the other news her doctor had for us: Natalia has a hernia in her tiny stomach!! The doc thinks that the hernia developed now that she's spending more time sitting than laying down. That extra weight bearing in her stomach may have caused her stomach muscle to rub with her gtube and caused the hernia. I was in complete shock... I just never new this could happen. . My only comfort is that I don’t believe Natalia’s in any pain, she can communicate pain really well. There really isn’t much we can do now so we’re just going to observe her and see how she does and evaluate if surgery in needed. I'm praying she doesn't, last surgery was tough on her.

She isn’t gaining a lot of weight either; she only gained about 6 oz since Dec. But I now that she’s on her own agenda with that as well… although she still is plotting very well in the CdLS height and weight charts, so I’m not going to loose any sleep about this. She's the pink dot.

Her stats at 17 months: Weight 15lbs; Height 25.5 inches. and 100% CUTEPIE!!

Natalia 101

Here are a few random facts so you get to know my peanut a little better (in no particular order):

1. Natalia was born at 36 weeks, she was 3lbs 4oz and 13.75 inches long
2. She is still in reign since she still has no brothers or sisters
3. When she was born the length from her knee to her ankle was 2 inches
4. She has no speech, but definitely has different sounds (and faces) for different feelings and situations, thus gets her point across clearly.
5. At one point in her life that she was taking 8 medicines, we had a white board to keep track of times and doses delivered.
6. She had her ears pierced when she was 4 months old by a little old nun at the local hospital. She didn’t even flinch.
7. When she was born we were told she would never react to human contact and that she wouldn’t live beyond 1 year. Well, they obviously didn’t know who they were talking about: 16 month and going STRONG!!
8. If she laughs it humanly impossible not to laugh with her.
9. At 16 months she’s teething, her front lower gums are about to explode.
10. She rolled over at 8 months.
11. Natalia loves music; the louder it is the louder SHE is.
12. She wears 6 to 12 month size clothes.
13. Like many CDLS kiddoes, Natalia was born with GERD.
14. When she was 2 month old we found out she had some seizure activity, she used to look ever so briefly to the right as if in a daze. It didn’t seem natural to me so after some tests she was diagnosed with epilepsy and been on Keppra ever since.
15. She L.O.V.E.S textures: leather, silk, fur, chiffon … the softer the better. She can stroke it for hours.
16. Every single time we carry her she throws herself back and looks at the ceiling while being carried, this has been going on for her whole life.
17. She loves to be thrown up in the air by her dad, she laughs her head off. We firmly believe she’s hooked on adrenaline.
18. Our princess had her Fundoplication & GI tube operation when she was 10 months, she was given to much anesthesia and went into Cardiac Arrest. But being the fighter she is was out in 22 days, including extra days in hospital because on pneumonia and C-diff.
19. Natalia has the most beautiful dark, stranger stopping eyelashes.
20. When she was born she was stared upon for being soooooo tiny.
21. When she was 2 months old it was a reason to celebrate if she drank 2 oz (60mls)
22. She has the most beautiful smile, no, really, it’s amazing!
23. As of today she sits unsupported until she’s had it (about 20 minutes), stands with support (although we’re working on her not sticking her bottom out) and taking tiny tiny baby steps while holding on to BOTH hands. This is very VERY exciting!
24. Natalia has crazy curly hair, if you don’t believe me check out some other pictures. This is the reason I make it a point of giving her a hairdo every day (almost every day).
25. Her feet are soooo small that all she wore were sock until last Nov when the weather started getting chilly. As of today she still wears 0-3 month baby shoes.
26. She’s a San Diego Charger fan 100% (ok, so maybe her parents are…)
27. Her wardrobe is just insane. But I plea no contest: baby girl clothes are just too darn cute!!
28. I'm a better person because of her. She's shown me what true unconditional love is.