In a Nutshell

It’s been quite a bit since I’ve posted and so much has been going on, I’ll try my best to update you.

PART 1

Late November Natalia was doing awesome, she was mastering sitting w/o support, and this was her favorite activity: Mirror play!!!

Then suddenly one day she stopped tolerating her feeds, I slowed her rate down all the way to 40 /hr but she still has ghastly stomach cramps and seemed to be producing A LOT more gas than usual. She would scream in pain and jerk all around, these fits lasted about 40 minutes and I believe that she just got so tired she slept even with the pain.

After one day of this she got a slight fever, I called her Ped and she told me to go to the ER just to be sure. And, as Murphy ’s Law is, Natalia was fine during the ER stay. She was even LAUGHING!!! I couldn’t belive it. We were there for around 5 hrs and they finally decided to discharge us, I was so frustrated because I knew that she wasn’t all well. When the discharge papers arrived I started to dress Naty to go home before I signed them. And then Natalia started having a fit. I mean, it took 2 nurses to hold her down and she’s tiny!!. Thankfully one of the Doctors was there and saw just how terrible her pain was, they admitted her immediately.

Our hospital stay lasted 1 week; she got better very slowly because this time nobody could, by ANY means, get a line in her tiny veins. All her meds were via gtube. She was very weak but finally after 4 days her blood culture came back negative so the game plan changed and they stared weaning her back to Nutren Jr.. that took another 3 days. In the end we were discharged with her feedings at a very slow rate, no solids and a case of c-diff.

We had her 15 month well check 1 day after her discharge: 14.7 pounds and 26 inches. This puts her well above the 50th% in the cdls growths charts.

We also had an appointment with her GI doctor, who was happy with Natalia’s recovery but still ordered an upper GI and a swallow test just to double check that her Fundoplacation is holding up consistently. I’m glad she’s having those studies done again since I know how important gastric & swallow issues are with CDLS. These are going to be in Jan 08.

A week after she was discharged we also had an appointment scheduled with the pulmonologist to try to get the synagis shot for her.. By then Natalia had the sniffles an a slight cough. Everything went great with the pulmonologist, she said her lungs look great but still authorized the synagis. When we asked about the cough she said it was just that: a cough. And just as things usually go: the day after that appointment Natalia started to have this whooping cough that made her cry every single time. This lasted another week, and is finally dying down. She still has a cough, but definitely the worse is over. We can finally both sleep. :)

PART 2

MERRY CHRISTMAS!!!

Both my brother and sister came to visit for the holidays. We seldom see each other since one lives in NY and the other lives in Wisconsin. Their presence made this holiday very special. My brother stayed only for a week, he left just before Christmas. I'm glad he and Gaby (his wife) had the chance to get to know Natalia. We're a pretty close knit family and if there is something I would love is for my brother ans sister to know just how lovable and teriffic my baby girl is.

This is my brother Elias and his wife Gaby with Naty in her PJ's

My sister is still here with her family, she has adorable twin 4 yr olds who are pure dynamite! They are tons of fun. They love to play and cuddle with Natalia, and she enjoys the atention. I think it's time to think about giving Naty a brother or sister, she enjoys other kids company alot!

This was Christmas dinner with my parents, my sister Delia with her husband Jafet.

Chrismas morning was a whirl, imagine two 4year old opening present and jumping all around, Natalia jus took it all in.

Then it was time for her to open her presents, I belive she loved them!!

Hope you all had a teriffic Christmas!!!

We're back!

Well, finally life is begginning to be back to normal. Natalia spent a week in the hospital :( she had a stomach infection. I first noticed her breath started smelling funky, a day after that she started gagging at every meal, and I knew she had some kind of stomach issue because she stopped eating her solids. After a day of gagging and very scary episodes took her to the ER, which means, by my experience, that she is automatically admited. The doctors tend to take everything with Naty with the utmost care because of her medical history: cardiac arrest, pneumonia, c-diff, etc etc.
Juat wanted to touch base with the blog, and I'll soon post some pictures and talk more about this. Darn! i don't even have time to peek at my favorite blogs!
byebye.

ENT & Thanksgiving

Yesterday we had an early ENT appointment to rule out fluid in Natalia's ears. She has another ABR (hearing test) next Dec 3rd after the first time we were sent back and the second one that was canceled because o fluid in her ear. So we are good to go... no more fluid in her ears!!! Now we have to keep her completely sniffle-free until after the ABR.
Natalia was in an excelent mood, "talking" all the way home. When we got home she became vey entertained with her activity block (thanks Clari!). I'm thrilled that she's having fun with it now, she feels like such a big girl when she's sitting alone playing.

We are planning on having a quiet Thanksgiving at home. But that's no excuse not to dress up... Happy Thanksgiving everyone!

Just us girls

Today Natalia and I had a relaxing, mellow day. We're home alone until tomorrow so we made the best of our quality time. During week days I see Nati just a few hours a day because of work so I miss her daily rutine. But today, even though we didn't leave the house, it was great to have her all to myself.

First we watched Baby Einstein videos

I'm soooo proud, she's doing so well with her sitting

aaaaahhhhhh.....

an early dinner, yummy!

...it's all in a day's work!

Taaa Daaa!!!

I'm thrilled, after almost 2 months we FINALLY have a new camera!! Here are the first pictures, don't expect too much, it was late but I couldn't wait to try out my new toy. : )

This is Natalia's "I don't care if I have crazy hair, don't brush my hair" hair.
I know, this crib would probably be banned for overstimulation, but Natalia likes to have variety, and I'd do anything to get her to fall asleep late in the evening.

I'm planning a fotoshoot this weekend, I'll post them by Tuesday. Have a great weekend!!

Some old, some new

Good news from Amazon: I just got my refund in so we'll be getting a new camera any time soon.I really want to share her pumpkin pictures but I haven't received the pictures from my friends who're supposed to send them (hint hint). Here are some pictures from last year. I'm glad this year Nati did enjoy herself, mabey I was able to erase last years traumatic Halloween experience...

Everything started ok, she was placidly sleeping until...

Mom decided it was time to dress up as a WILD CAT (costume courtesy of Aunt Delia).

Then all hell broke loose!!

Here's a closer look, this 2 month old was WAILING!!

Not even her friends could make her stop

OFCOURSE!!! She hates hats! After we took her wild cat ears off she was good to go. And fell sound asleep.

Can you tell how tiny she was? That costume was size 1 preemie from preemie.com. Take another look at the first picture, that bib was normal size and looks huge on her.

Here are a few pictures my father took of Natalia this weekend, please excuse the poor quality, they're from a phone camera.

Big smile for the camera... I mean phone

Although it seems she's bored out of her wits, take my word for it, she was having a blast. hehe
I think she prefers to pose for a real camera.

Hope your Halloween was fun. ;)

All's clear

Well, the smoke is almost clear. Thankfully the fire was contained in time and it didn't get to any of my neighborhood's homes. We were lucky, but an estimated 1500 homes did burn down. I feel for these families loss. I feel even more for the family of the 4 people who lost their lives in these fires. I'm so thankful for my county's organization in crisis, San Diego really did come together. Most of all I'm thankful the worse is over.

Natalia literary didn't see the light of day during the worse of the fires. Our home was closed down: No windows were opened, only the garage door was opened as needed to go for supplies. We put wet towels under the door so the smoke couldn't get in and made sure the AC's filter was clean. So many of my friends kids got sick, even though they used face masks so I was extra careful. Our effort payed off because Naty didn't get sick, not even a sniffle. :-)

Oh, and we bought a new camera an Amazon but decided to return it after reading a bunch of bad press on a a faulty lens E18 error that isn't covered by the warranty. Sorry... the pictures are still on standby.

Fire!

These are scary times. We live very near the Harris Fire in San Diego. A few of the neighboring areas have issued voluntary evacuations. A bunch of roads are closed near our house and the smoke is getting really bad. It really hits you when you start getting phone calls from out of state fiends to ask how you are. We're glued to the TV or in my case the web. These darn Santa Ana winds are moving these fires quickly. I'm hoping for the best... keep us in your prayers.

Less is more

Yesterday was the first time a doctor has told us we don't need a follow up appointment. :) It was time for Natalia's 6 month check up with her Urologist so she had 2 studies done to see if there was still reflux from her bladder to her left kidney and guess what: NO MORE REFLUX!!! She'd been on Septra since birth to prevent any UTI's, but tonight, for the first time in her life she's not going to take it. We couldn't be happier. Oh, and btw she was 13lbs 6 oz , no wonder my arms ache...

Up, up ...and down

I’ve had a loss of inspiration since I lost my camera two weeks ago :( … and no, I haven’t bought a new one just yet but I wanted to share how Natalia’s feeding was going.

On Natalia’s appointment with her GI doctor about 6 weeks ago, she said she was time to change her feedings from Isomil to Nutren Jr, a more calorie rich and age appropriate formula. She gave us the game plan: transition slowly with just one feeding a day, and every 2 days change a feeding until she has 120mls of Nutren for her 3 day bolus feeds. Monitor her for 3 days after that is done, and if that goes well then change her 250mls at 30ml/hr continuous night feeding. If everything was still ok then we could start slowly upping the bolus rate to have Natalia finish her day feedings in 30 minutes instead of 1hr 15 mins.

We followed the exact instructions, and it went very smoothly… soon we were upping the feeding rate slowly 5mls per day. We started at 90mls and moved steadily to 130, our goal was 200mls an hour. We were transitioning like experts! Yayyy!!

Then one day Natalia was fussy and extremely gassy, her stomach was extended and she has having a lot of residual (the formula that comes out of the gtube if you vent it). We had celebrated too soon. After calling her dietitian she confirmed that Nati wasn’t tolerating her feeds, and we should slow the rate down, waayyyy down. So that’s what we did, all the way down to 75mls!!! So Natalia was taking almost 2 hrs to finish her daily feedings. We are SLOWLY bringing the rate back up, and after 2 weeks we’re at a 100mls/hr rate, this rate seems to be working well for her, so we’re letting her stick to it for a while before we try to up the rate again. What’s important is that she’s getting the food she needs with the least discomfort.

I'm not counting my chickens before they hatch again...

Owies :(

Natalia’s geneticist ordered some lab works for a gene study, since we had an ophthalmology appointment Tuesday at 7am, we figured it was a good idea to go ahead and get it over with. The lab was just a few doors down the ophthalmologist’s so we were there at 7:30am sharp.

When I checked in I made sure to tell the receptionist that that Natalia was an extremely hard stick (that’s lab lingo for impossible to find veins to draw blood from J ). I also told her I thought it was a good idea to get the CHET Team, who are like paramedic superstars, to draw the blood since they’re the only ones that have a red light in their equipment that makes Nati’s tiny thin veins visible through her skin (imagine a thick laser pointer), it’s been the only way we’ve been able to put an IV in her when she’s needed it. I think she thought I was an overprotective mom, but humored me by making a few calls. “The CHET team can come at 9:30am”, she said, but I’ll ask our most experienced nurse to take a look, and if he can’t then we can wait for the CHET”.

20 minutes later, in came the Super Nurse and tried to find veins everywhere: arms, wrists, feet, ankles. Natalia hates to be held down and hated even more having tight rubber bands on her arms and legs so there was a bit of drama. And, you guessed it, no veins! That nurse called another, and another, they all seemed pretty amazed that there was not a vein in sight. So with a big I TOLD YOU SO face we left the Lab to wait for the CHET Team in the Hospital’s cafeteria.

Two CHET Team members arrived at 10am and since we only needed 3 cc's of blood to be able to have the study done they thought it was going to be a piece of cake… Nati had something else planned.

To make a long story short: after 30 minutes, 4 unsuccessful sticks and one exhausted baby girl, they only had 3/4^th of a cc. At 10:45 they called it an unsuccessful mission, a first for both CHET members… I think it hurt their superstar ego's.

Now I have to regroup with our genetics doctor since we really want to have the study done. Although I think it’s a good idea to wait till Natalia is bigger so her muscle tone is better and her veins don’t play hide and seek.

PS. The Ophthalmologist said Natalia’s eyes are perfect and her vision is exactly where it has to be. Yayyy!!

Comunication Update

Today we went to Speech Screening. We had an appointment with a very kind and professional speech pathologist this morning to set out a game plan regarding Natalia’s communication development.

2 weeks ago, when we had her 1 year developmental evaluation, she was at a 3 month level in her communication skills, so I wasn’t sure what to expect. Let me say this: Nati gets her point across with Aaa’s in many intonations and I certainly understand her. But now we are going to start coaching her to use some consonants, i.e.: Babababa, Dadadada, Mamamama, Tatatata… you get the picture. We’re supposed to make these noises very interesting and look at her directly to get her attention; I prefer to talk to her with real words and must confess I feel a little silly doing this but suppose that I’ll get used to it. Our goal is to get her to respond to us after a pause.

As we suspected, Nati's not going to start speech therapy yet, but will be having follow-ups with the speech pathologist every 3 months to evaluate her communication skills and be able to start speech therapy as soon as she is ready.

I asked the speech pathologist for tips for raising a bilingual baby, she had some interesting things to say: Babies relate language with people, so as long as the same person ALWAYS talk to her in the same language her brain can sort out that info and learn to speak and understand both languages. Now this is very important to Natalia because our home is bilingual and we would like her to understand both languages. Between her caretakers, friends and family and media she’s bombarded with both English and Spanish, so now I plan to talk to all the bilingual speakers and ask them to choose: English or Spanish, but stick with it. Hope that helps Nati in the long run….

Here's Grandpa using Natalia's favorite kind of non verbal comunication: goofing around.

Finally the ABR!

After the BAER mishap last Monday, I was able to get it rescheduled to Friday (thanks to someone kind enough to cancel last minute and my ability to ring Speech and Hearing phone's off the hook!!) This time I followed the indications to a dime, well, as best I could. Imagine trying to keep a 1 year old awake till 12 am when her bed time is usually at 9pm . We tried everything: singing, clapping, tumbling, and when all else failed we even danced... I know, we are the biggest goof balls but hey, whatever works. It worked till 11:30pm.

Notice Dad's playful mood and Natalia's "whatever" attitude.

It was dad's job to keep Nati up till 12, I went of to bed at 10:45pm. But I was in charge of waking up Natalia at 4am. I must confess I cheated, I woke her up at 4:30 then let her take a itti bitti nap from 5:30 to 6am while I showered.

She still wasn't too happy when we were off to Children's Hospital at 7am for check in at 8am.

Natalia fell asleep as soon as the light was out... she even snored! The test went great, we had a SUPER audiologist assigned for our abr. She told us step by step what she was testing. After the BAER was done (it took around 25 mins) and evaluating the results she decided that she was going to test deeper and did an ASSR which determines exactly what frequencies are the ones with difficulty hearing and helps the audiologist program the hearing aids correctly.

What's the verdict? Mild to moderate flat hearing loss with a score of 40 on the left and 45 on the right ear. So this means that Natalia is off 20 points on normal hearing (normal being 0 to 20; mild is 21 to 45; moderate is 46 to 65 and severe is over 66).

If you want to hear what Natalia hears like check this link
and click the mild hearing loss option.
You'll find easy to understand info on audiograms: something I need to get familiar with...

We were thrilled with the results because 6 month ago Nati was on the moderate to severe level scoring 60 on the left and 65 on the right. So now we are starting the process of getting the hearing aides. We're expecting a call to get her ear impressions any day now. One less thing to do in Nati's "to do" list. ;D

So we celebrated having a tiny pool party... isn't she adorable in hot pink?

My ex taboo

When Natalia was born and we were given the CdLS diagnosis my first question was: how will that affect her health. The answer wasn't a pretty one, we were given a long list of possible affections. Little by little Natalia proved that she was going to be ok physically, no heart defect, no malrotation of the intestines, no organ malformation, just severe reflux thank God.

After that was clear another reality was there staring at my face: how would her development be? Thinking about "it" really hurt not to mention talking about "it" . I remember wanting to know right then and there how affected she was developmental wise so I intently asked Julie, the CdLS Foundation contact in southern Ca for signs I should be on the lookout for , she sweetly answered "time will tell". I was devastated.

A year later, coming out of Nati's second developmental evaluation I'm amazed at how distant that feels. Development ("it"), for us today, is completely subjective. Her accomplishments thrill the heck out of us and make us extremely proud. She´s come such a long way, this kid has determination! And looking back I'm able to look at Julie's answer from a different perspective and you know what? She was right, only time will tell, but we're alright with that.

Optimists Creed

Today we were sent back from Natalia's BEAR test. It seems someone forgot to give me the complete instructions, and I didn't ask. Since she has had a history of sensitivity to anesthesia everyone is extra careful.The instructions were very specific.
Nati's wasn't supposed to have had food or drink after 12pm. REALITY: She was on her continuous feed till 7am and had pear for breakfast
She also needed to be sleep deprived with only 6 hrs max of sleep and needed to be awake since 4 am. REALITY: She took a nap with dad since 5:30pm and didn't wake up till 5:30am. So we have to reschedule.
After this morning I decided to re-read the optimists creed. I seem to be re-reading this very often lately.. lol!!

PS. I posted this in English since the few people who've read my blog speak English and I haven't told anyone els about it... ;)

Promise Yourself:

To be so strong that nothing can disturb your peace of mind

To talk health, happiness and prosperity to every person you meet.

To make all your friends feel that there is something in them.

To look at the sunny side of everything and make your optimism come true.

To think only of the best, to work only for the best, and to expect only the best.

To be just as enthusiastic about the success of others as you are about your own.

To forget the mistakes of the past and press on to the greater achievements of the future.

To wear a cheerful countenance at all times and give every living creature you meet a smile.

To give so much time to the improvement of yourself that you have no time to criticize others.

To be too large for worry, too noble for anger, too strong for fear, and too happy to permit the presence of trouble.

It can be tough right?

El mejor año de mi vida

Para los que no lo han visto...
Hace un año mi vida parecía incierta y gris, ¿como iba yo a saber lo feliz que estaría un año despues? Pero lo digo de corazón: este ha sido el mejor año de mi vida, no cambiaría ni un segundo.


¡¡ Cumple un año de Natalia !!

Un día muy esperado

Qué creen? Me acabo de dar cuenta que no puedo postear fotos desde el trabajo!!! No me pienso desanimar... solo debo re-organizarme para robarle la computadora a Juan José unos minutos para hacerlo en las noches. SI SE PUEDE!

Ahora para lo importante, avances de Nati: Hoy tuvimos una cita que esperamos 6 meses para conseguir, la cita con la mejor Gastrolinteróloga del Children's Hospital al que llevamos a mi pulguita. Para mi fue un enorme logro conseguirlo. Fuí la pero pesadilla de la encargada de agendar las citas, con decirles que lo tenía agendado en mi Outlook como cita todos los lunes hablar para ver si había alguna cancelación. Es mas, aveces me emocionaba y hablaba los jueves tambien!!! jejejeje ;) ¡lo que no hace una mamá con una meta fija!

Nos fue excelente mente bien. Le van a cambiar la formula a Nutramin Jr (creo que así se llama) que es una fórmula con más calorías mas adecuada para su edad. Le aumentaron su medicina para su constipación al 8mls al día. ¿alguien sabía que el platano extriñe? duh! (yo no, jejeje)
Pues no mas plátano o manzana por un tiempo. MAS MANGO!!

Mi primera vez

Pues si, es la primera vez que escribo un blog. Lo estuve masticando un buen tiempo ya que no soy escritora ni en antecedente ni en vocación. ¿Será que leer otros blogs religiosamente te faculta para poder escribir uno propio? ¡Vamos a averiguarlo!
Ahora, el principal motivo para escribir este blog es documentar nuestro viaje con Natalia, mi bebesita de 1 año que nació con un sindrome muy raro llamado Cornelia de Lange, y claro, cualquier otro acontecimiento relevante que suceda a nuestra pequeña y relativamente nueva familia. Supuestamente es recomendable y hasta terapéutico escribir sobre tu vida para poner en orden tus pensamientos... y vaya que muchas veces yo necesito ponerle orden a mi día a día. Claro que a largo plazo tengo muy claro lo que quiero y lo que se debe hacer, el problema es no dejar que el trajín del día a día te coma vivo.

Para empezar va una foto de la familia

Es una foto de su Birthday Party... claro, la tiara de princesa no podía faltar ;)