The Answer

During Taylor’s first stay in the hospital she had almost 50 mL of blood drawn for different genetic tests.  And for those of you who may not be aware, 50 mL is a lot for a twelve pound baby. The nurses affixed the intravenous (IV) on each of her little hands then when blood would not draw from the veins on her hands, they resorted to her head and last resort was her neck. You can imagine how stressful an experience this was for a mother to witness and hold her baby down as they are screaming. It was a horrible ordeal and I hope Taylor never has to go through that again.

Six weeks later when the lab results were in, I met with the Geneticist on a Wednesday morning.  I recall her initial question to me, "What were you expecting from this appointment today?" Naturally, I was confused. What do you mean what was I expecting? I calmly answered her, "We were told we would have our daughter’s diagnosis today." The Geneticist was quick to advice, "The lab will not release results to me since I was not the ordering physician." Looking at Taylor she went on to evaluate her condition. The doctor discussed with me the similarities between Taylor and Pader-Willi Syndrome then said, "Well, I’ll contact you back when I receive the actual results and we can schedule another appointment." What?? How could this still not be taking care of? It’d been five weeks since I had scheduled the appointment!

By this point, I was holding back angry tears. What’s with delay? I can’t take all this waiting! I needed to know if my daughter was going to be alright and having to wait as much as a day more I felt robbed of peace of mind.  More than anything I needed the diagnosis for my own healing process. Later, unaware of my turmoil the doctor simply called and asked, "Could you come in Monday to discuss the chromosome Taylor is missing?" Monday…really? How could she say this to me and leaving me hanging? Why?? Oh wait, perhaps, what they had to tell me was horrible news...yes, that was it. The doctor couldn’t tell me something so awful over the phone, right? And while I sort of understood that, I still cringed, what would I do with myself for five days?! Cry actually. Yes, I cried for two days straight and Googled, in between. Yes…Googled! Well, I just had to know so researching for hours on end about symptoms Taylor had similar to Pader-Willi Syndrome was my therapy except that after learning all the 'what if’s' I was a wreck.  The research had taken a toll on me and by time late Friday afternoon came around I was losing it.  Bawling my eyes out I decided to call the Geneticist’s assistant and asked, "Does my daughter have Padri Willi Syndrome?" The assistant pleasantly answered, "No, but the doctor will discuss with you the chromosome deletion Taylor has." For me that was enough to comfort me for the time being. Since, obviously I could not Google about nothing I knew.

Monday rolled around and Max, Taylor, and I sat in the doctor’s office yet again and this is when the doctor finally explained Taylor’s condition while explaining chromosomes to us as well:  Taylor was missing line 37 on the bottom (referred to as Q) of her second chromosome, hence the reason the condition is labeled, 2Q37 Deletion Syndrome.

That very same day we received a packet that contained all the information the doctor had regarding this very rare syndrome. I will always remember this day, because this was one of many times that Max’s positive attitude shined through; he turned to me and said, "This is good.  We can work with her and Taylor will be okay." He was right, now that we knew what her condition was we now had the roadmap, the GPS of sorts to guide us along the way.  Most importantly, I, we, now had an answer.

I did not cry that day, I actually felt empowered.  From then on in I was going to do everything in my power to help my Taylor live a long, productive, amazing life!

Thank you Maria Piork for helping edit. Please be sure to follow her at Marialovestowrite.blogspot.com.

The Guilt...

When we were told that Taylor had major medical problems I immediately felt guilt. I imagined this to be a natural reaction. I mean, here I was following doctor’s orders taking my prenatal pills, staying away from food that I was told to avoid and yet Taylor was ill. Did I do something to cause my daughter’s suffering?? Did I not exercise enough?? Was it perhaps all those bean burritos I ate??  (I really did question that by the way – had MAJOR cravings…lol). What could I have done to cause Taylor to suffer so much?

Then, I thought okay, I know what it is, God was punishing me. Yep, God was punishing me for some not so prudent choices I had made as an adolescent. He was teaching me a lesson. Moreover, I thought He was telling me to stop and value the small things. Was He really teaching a lesson? Of course! Doesn't He always?

So consumed was I with this notion of punishment, that one day while on the phone with my sister Stefanie I was hysterically crying and asked her, "Do you think I am being punished through Taylor for the choices I made in the past?" Stefanie was quick to remind me of a good, humble, God worthy family whose daughter had Cerebral Palsy. She commented, “Jenna, you know Stacy lives a God worthy life, but yet God blessed her with a daughter with special needs just like you. See, He gives special children to special people." Stefanie was so right; I had definitely been humbled without a doubt.

So here comes the day we discovered that Taylor had 2Q37 Deletion Syndrome and obviously the burning question is still eating away at me.  Was it ME that caused this upon my daughter? You can’t imagine the relief I felt when I was told that less than five percent of cases are passed down genetically and according to Taylor's Geneticist 2Q37 Deletion Syndrome had most likely just happened for NO other particular reason than crazy chance. This was MOST comforting to say the least!  That’s when my notion was confirmed, 2Q37 Deletion Syndrome was in fact God's plan for Taylor.

Recently Max and I were given the opportunity to have blood work done that would enable doctors to determine if there is a possiblity that the impacting chromosome may be missing from either one of us.  Now, at this point do we really want to know? What if one of us is missing that tiny line on chromosome two... what if it’s Max? What if it is I??  The way we see it, we’re past the point when it’d make a difference, so we have declined the test at this time.  However, in the event that we do want to have another child we would most definitely have the test done.  Neither Max nor I want another child to have to suffer as Taylor has. 

My Dad told me a while back, "You remember to take good care of my grandbaby because she is an ‘elite’ spirit of God and chosen from the pre-existence by God." I do believe that Taylor is ‘elite’. Taylor is a special spirit of God, and Taylor is without a doubt the most comforting and perfect spirit I know. She may not have all the physical attributes most normal babies have, but she has the highest power by being a chosen spirit of God. He trusted us to love, adore, teach, help, and care for a child of God, to care for Taylor.

Thank you Maria Piork for helping edit. Please be sure to follow her at Marialovestowrite.blogspot.com.

How It All Began...

Thanks to the encouragement of my friend, Maria and my sister, Stefanie who told me I should be writing a book, I started this blog. The way I figured given the challenges Taylor and I face on daily basis writing about them is an excellent way to relieve stress and an excellent way for all of my family and friends who see updates on Facebook to now follow along in Taylor’s journey and get the full story here in this online journal. I have in this initial blog entry attempted to capture to the best of my ability the events that have occurred the last nine months, events that have brought me the most pain and the most joy.  I’ll say this experience has made me appreciate and love those people closest to me in way that I never envisioned.

Taylor: I dedicate this online journal to you because you truly live a life that most people would never imagine.

For those who do not know me, my name is Jenna Skousen and am blessed with a beautiful daughter, Taylor Leanne (nine months), and a wonderful man, Max, and his two great kids, Alexus (eleven years old) and Jacob (nine years old). We live in Arizona and seeing how much Taylor sweats these days, I wonder if this is the best climate for her, but with all of our family and friends being here we would not trade that for the world! And seeing as Taylor loves the water, we could always cool her down in the pool.

So, where to begin... Well nine months ago we became the proud parents of an adorable baby girl, Taylor Leanne Alvarez. Taylor was full term, great delivery, seven pounds, three ounces, 19.5 inches, she was perfect! Her birth was by far one of the happiest moments of my life. Shortly after Taylor was born while in the hospital I noticed her breathing was very loud and did not seem right (when they say mother's tuition... they mean it!). So, I talked to the doctor and was told that she had Laryngotracheomalacia (LM), meaning floppy airway, and that after a year Taylor would grow out of it. I was still skeptical, but what did I know? She was my first child and I trusted what the doctors, the experts were telling me. Then we went to Taylor’s first baby check up and posed the same question to her pediatrician, and got the same exact answer. So, she had LM, no big deal, right?

Looking back and knowing what I know now, there were signs. Taylor would slap her arm back and forth from her thigh to her head every time she ate, but don't most kids twirl their hair when they eat or hum?? I assumed it was just discomfort from very bad reflux, typical issue of people with LM. At three months Taylor could still not hold her head up, so I brought this up to her pediatrician. He told me to make sure she did a lot of ‘Tummy Time’.  In my head I was thinking, “Okay not sure how much more ‘Tummy Time’ she can do, but guess 24/7 it is!”

In February when Taylor was about four months old she got pneumonia, so we went back to the doctor’s and again I mentioned that fact that Taylor was still not holding her head up. I will never forget her face as the doctor took her hands and pulled her toward him - with her head still flopping back she just smiled and laughed at him, that’s my Taylor.  She had no idea what was going on, but still the happiest little thing.  So, we scheduled an appointment three months out, yes, three months; neurologist appointment are impossible to get into here in the Valley of the Sun (a worthy piece of advice for you college bound young adults: Neurologists. Now, that’s job security for you!).

So, we went to her well baby check up at five months instead. The doctor gave us the okay to start to feed her baby food, yippee! I was so excited and could not wait to get home to give her baby food by a spoon. I had felt cheated out of the hold the head up milestone so you can only imagine the excitement I had knowing that my little girl would be eating baby food with a spoon! I was prepared.... me loving coupons bought tons of baby food and had them all ready to go with baby spoons and bowls. Then to my shock and disappointment, she would not eat it.  Taylor would actually drool, spit it out, and it would literally take an hour to get her to eat a quarter of a small jar.  I was convinced I didn’t have the foggiest idea how to feed a baby, I mean there had to be something wrong with what I was doing; everyone knows how to eat, don’t they? Ha! How naive I was! So here I kept trying and to feed her for another week or so and it wasn’t until I fed her rice and she threw up everywhere that I realized something was really wrong. I remember it was at night and I was alone and anytime your child throws up it just wears down on you, at least for me it did. So I called her pediatrician and he said he would send a referral for a ‘swallow test’. Cool, no problem, ‘swallow test’ here we come!

March 15, 2012 will be a day that will live in history as a day that I’ll never forget as it truly changed my life, and made me a better mother, partner, friend, and person. I arrived at Phoenix Children's Hospital (PCH) an hour early as advised, and we got called to register. So, I sat talking with the intake lady, signing paperwork and such and was then told, “Okay, well that will be $1462.”  “Ummm, excuse me? Did you mean fourteen dollars and sixty-two cents?” No.” The lady replied, “Fourteen hundred and sixty-two dollars.”  Now, why on earth would I be paying so much for this simple ‘swallow test’? I asked myself. Then the lady explained that I would have to pay that plus 10% of every procedure. I knew Taylor had to still see the Neurologist, so I was calculating in my head thousands upon thousands of dollars. Now, keep in mind I had only talked to her doctor over the phone…so was this truly the only solution there was?? For someone who worked at a Children's Hospital, the registration women had no compassion whatsoever, she said, "You know people have put you in their schedules and you are wasting everyone’s time." Her calloused words I will never forget but I had to think, was she right? And was it wrong for wanting another opinion?

Now, if you know anything about me you’ll know that I cry at the drop of a dime. So, in true Jenna Skousen fashion I began to cry my eyes out.  Then, just as I am getting up to push Taylor out of the hospital a manager and a nurse from Radiology come out. Mike, the manager, began to tell me that any financial issues would be worked out and Taylor would get the test done. Then, I was explained the correct financial obligation per my insurance that was much more manageable.

Approximately ten minutes later the manager and nurse expedited Taylor to the back. And there were four women in the room and they were all looking at a screen as I held Taylor's wobbly head up. Then, she was swallowing different thicknesses and all the nurses just gasped in horror. I asked if everything was okay and they said, “No, this is not going how we were anticipating.” I tell you I have never felt so alone in my life and I began to wail all the while holding Taylor as steady as I could. They tried three types of thickness then a nurse said, "Stop. We cannot put her through this any longer." They explained to me that as Taylor swallowed it was mainly going to her lungs called Aspiration. I never took a second to even listen to the word aspiration or what it had meant before this.  As they explained that Taylor would have a tube put down her nose to feed and that she would no longer be able to eat anything by mouth I began to bawl, I was so devastated.

Soon after Taylor was admitted in the hospital, Max, and our family were there to support us. That first day about six doctors came in to see her. She had IV's, MRI's done, blood work taken, then doctors, nurses, therapists and other professionals constantly were in her room. I have never cried as much as I did that week. But, I KNEW that God had a plan for us, a plan for Taylor.

Since, that day our lives have completely changed. Six weeks after our stay at the hospital we found that Taylor has what is called 2Q37 Deletion Syndrome.  2Q37 Deletion Syndrome is a very rare and unique syndrome that has affected a reported 100 individuals.  Pretty crazy, I know! Our common joke is that we should have played the lottery because we had better odds.

Taylor currently suffers from gastrointestinal difficulties, reflux, frequent vomiting and pneumonia, chronic diarrhea and coughing, small feet, aspiration and sucking problems, eye issues, asthma and respiratory issues, sleep apnea, eczema, LM, hypotonic, torticollis, developmental delays, minor heart conditions, misshaped head, and will be continuously monitored for Wilms Tumor (cancer) in her kidneys every four months. We also have been taught what to do in the event of a seizure. Taylor will also be supervised for mental impairment and autism as she gets older.  She seems so incredibly bright right now that we are not worried about this at this stage. 

We have appointments numerous days a week, hospital visitations and stays, surgeries, and TONS of testing. From a few doctors we are told that Taylor has this issue because of this, that, and this going on and there is not a way to solve all of them by just surgery. So, will she ever grow out of it? I think most of it yes. Her life will always involve doctors and hospitals, medicines and constant tests of course. But, I know she can handle it and it is my mission is to help her to become the best person she can be.

As for me, people often ask, “How do you do it?” “You're a saint.”  I used to think wouldn’t any mother do this for her child?? But I’ve seen so many adopted kids with health issues, I now think, maybe not all mothers are willing to live with the constant heartache and responsibility. And to be honest, living with a sick child is stressful enough, but living with a child whose condition is yet rare at that is a daunting task and certainly not an easy life. But yet I marvel as all of Taylor’s little accomplishments.  It is extremely rewarding when Taylor finally accomplishes a task that for most ‘normal’ children is just given. For example, when Taylor held her head up on her own at six months I wanted to shout out to the world how proud I was of her!

Taylor has accomplished so much in this little time she has been here and has shown how hard she works for it all. I consider myself fortunate to be Taylor’s mommy and extremely lucky to have her in my life. Truthfully, I do not know what it is like to have a "normal baby” this to me is normal and it is our life. Would I take her pain away? OF COURSE in a heartbeat. But, I can't and to dwell on that I would miss so many great memories. I am blessed, every day I wake up to a sweet, smiling spirit who adores me. And I too adore her.

My new motto in life... "Enjoy the little things, for one day you may look back and realize they were the big things." -- Robert Brault

Thank you Maria Piork for helping edit. Please be sure to follow her at Marialovestowrite.blogspot.com.