A Perfect Heart

We saw the cardiologist last Friday for our first of many specialist appointments to monitor Joaquin's health. Children with DS have a 50% chance of having heart issues sometimes leading to surgery. We were thrilled to find out that Joaquin has a perfect, normal heart. The doctor said there is no need to see her again. Check that one off the list! We're hoping it's the first of many healthy reports to come.

Welcome to Holland

I found this piece during my search for answers and information about Down syndrome shortly after Joaquin was diagnosed. It gave me immediate comfort and a new perspective. I hope you enjoy it.

WELCOME TO HOLLAND

by
Emily Perl Kingsley.

c1987 by Emily Perl Kingsley. All rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Colosseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Andres

Hector and I decided toward the latter part of the pregnancy that we would name our baby boy Joaquin. It's a name we both liked and one that we both could agree on. The middle name, on the other hand, was not so easy. I was a big fan of Tomas, my dad's favorite name and confirmation name. Hector was a big fan of Andres, the name of his favorite nephew who lives in Mexico City. I kept fighting for Tomas and thought it sounded great with Joaquin. But, Hector felt very strongly that he wanted to name this baby Joaquin Andres and he really wanted to do it to honor his nephew. So before the baby was born, after Hector stressed how important this was for him, we decided that Andres would be his middle name. Andres is the first nephew born on Hector's side of the family and the first of sixteen grandchildren for Hector's parents (Luz and Sergio). Andres also has Down syndrome.

What are the chances of that? It was one of the first things that ran through my head when we got the results of the chromosome test. Joaquin was named for Andres, before he was born, before we knew his diagnosis and now they shared the deepest of all bonds.

Hector has always had a special place in his heart for Andres and was with his sister when she found out that her first born son had Down Syndrome. The diagnosis was made shortly after he was born and it was a complete shock for the entire family. Hector formed an immediate bond with Andres and still to this day speaks the world of him. Andres is 18 years old now and is doing fantastic. He loves to read, swim and go to school. His favorite books are the Narnia series. He will graduate from high school next year and is preparing for his first job. He is the oldest of three boys (Juan Pablo and Santiago are his younger brothers) and his parents are an inspiration to us (Carlos and Silvia). Silvia was the very first person we called when we got the news of Joaquin's diagnosis and we spent a few hours on the phone with her. Thank God for Andres and Silvia. We had a shining example of how life can be with a child with Down syndrome and that gave us immediate peace and hope in a time of great need.

Andres got to meet Joaquin for the first time this past week in Mexico. His mother hadn't told him about his diagnosis because we had decided not to tell the extended family until they met Joaquin first. She was certain Andres would have had difficulty keeping this private so she waited to let us tell the rest of the family first. Apparently Andres saw Joaquin in his Aunt Ana Paula's arms in her stairway before anyone knew, he stopped, put his hand on Joaquin's head and said in Spanish "You're like me, you are just like me." This puzzled Ana Paula at the time. After we talked to the family and shared the news of Joaquin's diagnosis, she told us what Andres had said. Did he see himself in Joaquin? Was he referring to the fact that they share the same name? Was it something deeper than that? They definitely had a special connection the moment they met. We'll never fully understand what Andres meant by what he said but what we do know is that it was a powerful moment.

The Phone Call

For two long weeks, we wondered when we would hear the results and what those results would be. I spent endless hours on the computer in the middle of the night reading anything and everything that had to do with Down syndrome trying to prove or disprove that Joaquin had it. Hector felt relief at the doctor's instinct that he didn't think Joaquin had DS so he thought it was silly for me to spend so much time thinking and worrying about something that probably wouldn't be. I just had to know everything and to be prepared, it's just how I process things. Every day of those two weeks I would look at Joaquin and try to see "it" or not see "it." Mostly all I saw was my beautiful precious little boy who amazed me everyday with his smile and his adorable cooing and babbling.

Hector and I had many conversations about everything that we were going through. We talked through both scenarios. We mostly marveled at how one phone call was either going to dramatically change our lives or not.

On Friday afternoon, on Joaquin's three month birthday, we got the call. Hector was just home from work and playing with the big boys at the kitchen table and I had just put Joaquin down for a quick nap. I answered the phone. Our pediatrician called to say the results were in and plainly stated that Joaquin did not have Mosaic Down syndrome but in fact had Trisomy 21...true Down syndrome. My heart was pounding and I asked if I could please get my husband on the line. Together, on two different phones, we listened in on the call as he stated all the things that were going to have to be done, referrals that were going to be made and what this diagnosis meant for little Joaquin. The doctor mentioned that he was quite shocked and surprised by the results and that in his 15 years of medical practice, this was a first. He said it proved to him to always follow the mother's instinct. We hung up the phone with the doctor, held each other, put our hand on our sleeping baby and cried.

Memory Keeper's Daughter

Have you read this book? It's really good. I read it last summer when I was pregnant and loved it. I was so excited to hear that they had made a TV movie out of it. My mom told me to TIVO it and Hector and I watched it together one night after the baby was born. Unfortunately, we missed the first ten minutes of the movie because of a TIVO error so we missed the crucial birth scene. My mom was so eager for us to see the movie and asked me what we thought. I mentioned that we had missed the first few minutes but enjoyed the rest of the movie. She mentioned she still had it taped if I wanted to see the beginning of the movie.

The next day, I went over with all the boys to have lunch at my parent's house. I casually put the movie on and watched the first few minutes which included the crucial birth scene. The premise of the movie is about a mother who gives birth to twins...one who is normal and one who has Down syndrome. I won't give away the rest of the book....you MUST read it! Anyway, in the movie, when the baby girl who has DS is born, the film flashes on her face, her simian creases on her hand and her space between her toes. It was in that moment that I looked at my mom and said "That looks just like Joaquin." My mom looked at me and said "I know, I think you should have him tested." I will never forget that moment.

I called Joaquin's pediatrician a few hours later and left a message with the advice nurse with an urgent request to have Joaquin tested for Mosaic Down syndrome. I got a call back from the nurse saying that the doctor was confused and wanted to see him again in person before he would order the test.

I had thought in my mind that Joaquin must have Mosaic Down syndrome, if anything, only because he had only a few markers and was missing some of the major markers like a heart murmur and low muscle tone. I also thought this could be the only reason why no professional had spotted it until then. Mosaic DS is a rare form of DS that only some cells in the body have the three chromosomes and other cells are normal. I also thought in the back of my mind that maybe he didn't have it and that I was just making this all up.

We went in to see the doctor the next day and he looked at Joaquin and said he didn't see it- he looked for the low set ears which he doesn't have, he looked for the short pinky which he doesn't have, he didn't have the heart murmur, he didn't have the low muscle tone and he didn't have the typical facial features. The doctor said he would order the test only because I would probably worry and wonder if we didn't do the test so he was basically doing it for me and my peace of mind.

We immediately took the baby down to the lab to get his blood drawn. He didn't even flinch or cry as they took his precious blood. And then, the wait began.

For two LONG weeks...

A Mother's Instinct

Always trust a mother's instinct.

The very first words out of my mouth when I held my baby were "Does he have Down syndrome?" and I felt bad for saying that and for thinking that. There was something about his pretty slanted eyes that were swollen shut, his tiny nose and his little tongue sticking out but my comments were quickly dismissed and kind of nervously laughed off as a delirious mommy moment.

Joaquin was seen by a LOT of doctors and nurses during our stay at UC Davis Medical Center. It's a teaching hospital so you have countless residents coming in to see your baby and do their assessments. Joaquin failed his hearing test and I was told this was very common and not to worry. I was told he would get a referral for a second test in a few weeks and most likely everything would be fine. Well, he failed the second test too which indicated he had fluid in his ears. He was then scheduled for an ABR (auditory brainstem response test) around his three month birthday.

No one ever mentioned anything about Down syndrome. Ever. Hector had mentioned to the pediatrician in charge the morning of Joaquin's birth about my first impression of Joaquin. The doctor said the baby had a few mild markers but didn't think it indicated Down syndrome and said the only way to really know for sure was with a chromosome test and he didn't recommend one. From that day forward, both Hector and I thought there was nothing to worry about and just got on to the business of falling in love with our new baby.

Joaquin was seen by his regular pediatrician several times for routine visits and checks, maybe 3 or 4 times. Joaquin was doing great....eating, sleeping, pooping, peeing, etc. He was even army crawling in his bed at night. We'd put him on one end of the crib and by morning he would have inched himself over to the other side of the bed. We are firm believers in "belly sleeping." I think he was about 5 days old when I watched him flip himself over from belly to back. Proud mommy moment.

My mom who is a neonatal nurse pointed out that Joaquin had a simian crease on one hand, but otherwise his hands looked just like my other two boys. We also noticed that he had a wide space between his big toe and his little toes, what I later learned is called a "sandal gap." We just thought he had extra cute feet. He also had a bit of extra skin/fat on the back of his neck, just baby fat we were told. Joaquin also had a tiny little nose and tiny little ears. He really looked like a porcelain doll. We were told over and over again how beautiful he was and I really had to agree :)! All of these things we noticed occur on "normal" babies but something in the back of my mind was adding them all up. I think all of us (my mom, Hector and myself) kept wondering about these markers but again felt confident that surely the professionals would see things clearer than we would.

As time went on, all I could see was my beautiful baby boy who we loved so very much. He was such an angel baby. Rarely cried. Slept like a champ and slept a lot. Nursed without any issues. We were in sync with him and we all just adored him. The first three months were truly wonderful. Diego and Mateo were great big brothers. Diego loved to dote on the baby and although Mateo wanted very little to do with the baby at first, he was gradually warming up to him, calling him "mama's little baby."

We were all in love.

Joaquin's Birth Story

Here is the recap of Joaquin's birth story. I wrote it about a week after he was born...

So I had a doctor’s appointment on Thursday, January 31st with a new doctor (it was her first day on the job but obviously a seasoned doctor who said she had been in the business for over 20 years). She decided to check my cervix for progress and found that I was still only 1 cm and my cervix was long and hard. Same as I was 2 weeks before so she said it looked like I would go until my due date and if not, I was looking at a long drawn out labor…bummer! So that night I went to my baby shower and was glad to know that Joaquin would be coming in February after all- one of my hopes. Friday, the 1st of February, was a normally busy day with Diego and Mateo both having preschool. In the afternoon, before Hector came home, I decided to take them on a brisk walk around our block and we managed to do it two times and I felt good but felt like I was pushing it a bit by the end of the 2nd lap. I went to bed that evening wondering when I would go into labor since all of my labors start at night time. Well, sure enough at 2:45 am that morning of February 2nd, I felt a strong contraction that woke me up. I lied in bed for a half an hour trying to sleep and casually watched the clock. The contractions were coming pretty regularly but were very manageable at first. At 3:15 am I decided to get up and go to the bathroom. I had no bloody show so I thought this might just be a passing thing but they were still coming regularly. At about 3:30 am, I woke up Hector and told him I was having contractions but I wasn’t really sure what was going on. In between the pain, I would run around the house doing chores, picking up, doing some laundry, dishes, whatever, all in the dark so as not to disturb the boys. I got into the shower at this point because things were getting painful. My shower was brief- usually I love long showers while I labor, but I had to get out of there quick. I decided that I’d finish packing my bag and woke up Hector again and said I thought this was "it"…maybe. My labors with Diego and Mateo were at least 8 hours long or more. After a lot of denial, I wrote a quick email to friends to announce that I was in labor and then I called my parents at 4 am. They arrived about 15 minutes later and I was encouraging Hector to get ready to go. He showered, packed his bag, camera, unloaded his bike from his car, all of this pretty casually. Diego was peacefully asleep in his bed. Mateo was awake in our bed so I gave him some cuddles. My dad was in charge of the boys and finally we were off to the hospital after insisting that Hector get moving faster. My mom, Hector and I all piled into the car for a quick drive over to UC Davis Medical Center which is just around the corner from our house. I was in serious pain during the contractions at home but would just breathe through them, bent over at the waist- it helped a lot. I was on my feet most all of the time too. I felt like I had to go to the bathroom, this intense pressure down below. During this time, I also was very thirsty and drank a bunch of water but then ended up over the toilet, dry heaving and salivating because I felt like I had to throw up. I believe I was in transition on the way to the hospital. I was so uncomfortable and started asking for a shot of pain meds or an epidural on the drive over, anything to take away the intense pain I was feeling. I was very irritable even though the drive was a short one. I decided to have us park in the parking structure so I could walk to the nurses station which is quite a long walk by the way. I don’t know what I was thinking….I guess I was thinking I still had all the time in the world. We made the long walk, with me clutching Hector as each contraction came and with my mom coaching us to keep moving so we could make it to the delivery room. I would have to stop and bend over many, many times on the way to the nurses station. We finally got there and I was ready for anything to get rid of the pain. I told Hector and my mom I didn’t want to do this again, I never wanted to do this again and didn’t want to deliver this baby. So familiar. Same feeling I had with Diego and Mateo. I was scared again. At 4:45 am, we checked in and the nurses took their time even though I told them I was dying!!! They finally took me to triage to check my progress. I threw off my sweatshirt and stripped my pants, refused the band they wanted to put around my belly and just kept begging for pain meds. The nurse couldn’t find my cervix just a bag of water. Next nurse same thing, no cervix just a big bulging bag. They called the resident doctor in and when she went to check me, my bag broke and she discovered I was fully dilated, fully effaced and –1 station. I was going to have this baby now and no pain meds were going to be given. They rushed me down the hall on the gurney. Quickly but painfully transferred me to the delivery bed. Got my feet in position, I scooted down, they asked if I had to push and I screamed yes and pushed immediately and hard. Out came his head to everyone’s shock and surprise, especially Hector. They told me to wait a second and then push again and he was out and very purple. They rushed him over to his warming bed to give him oxygen and he pinked up very quickly and we heard him cry while the resident doctor helped me deliver the placenta and then had to stitch me several times for a tear which HURT!!! At this point, I was shaking uncontrollably and was very much in shock, pain, relief. They then proceeded to put an IV on me – just in case- which I objected to but had to let them do. They also wanted to inject me with pitocin (AFTER the birth) which I flat out refused which did not make the staff happy. I absolutely saw no reason for either of these procedures but was repeatedly told this was their normal procedure. I kept telling them I believed in my body’s ability to take care of itself. So they didn’t do the pitocin but did the IV. That was our agreement I guess.

Joaquin Andres Sanchez was born at 4:59 am (just 14 minutes after arriving at the hospital) and he weighed 7 pounds 5 ounces and 20 inches. He was so tiny and perfect looking as I saw him from far away in the warming bed. They let me hold him for less than a minute and kiss him before taking him to the nursery for observation and a bath. I lay alone in bed again waiting a few hours and recovering before I was able to see him again. He was perfect and beautiful (even though I thought he looked funny the first time I really got a good look at him). He was very puffy and his eyes were very swollen and bulging and he almost looked like a little Down’s syndrome baby because of his face and his tongue was constantly pushing out. In fact the first words out of my mouth were "Does he have Down syndrome?" Everyone laughed it off. The nurse said he had great tone. He nursed like champ from the beginning and I was instantly in love….again !!!!