Tuesday, October 30, 2012

The end of October & end of 7 months

It's the end of October, the end of Down Syndrome awareness month, and nearing the end of Leo being 7 months old.  I guess that means it's time for a Leo update!

Overall, Leo has done pretty well with his therapists.  He hasn't mastered balance yet and falls to the side easily when trying to sit up, but he is progressing - he actually puts his hands (or at least one) down in front of himself now to hold himself in the "sitting up" position for short periods of time. This is new progress, and we're excited!  We know he will continue to make progress because he has great therapists.  We can also see the wheels turning when we say certain words to him. He looks like he's mouthing the word (like "bye" or "hi"), and then attempts to make the sounds. He's done really well with bah and sometimes dah though!

At the beginning of October, Leo had a follow-up visit with the GI doctor (gastrointestinal, in case you need to know!). He had gained almost 3 pounds in just 5 weeks.  I know... that's insane!  We had gone back to thickening formula again at the end of August in order to treat his reflux more aggressively and hopefully get the inflammation of his tonsils and adenoids under control, to help the obstructive apnea.  But this chunky of all chunkiness was actually going to work against us. All this weight gain was now making his reflux worse. So, back to NO thickening we went. According to Dr. Whitney, Leo is going to be a "moving target". Sigh...

The second week of October brought congestion back again and Leo's 6 month "well check-up", albeit delayed.  At the well check, Leo was also wheezing again. That meant another delay of his 6 month immunizations.We weren't sure why the advair he began taking several weeks before was not kicking this wheezing in the tail? But back to adding breathing treatments again we went. This respiratory infection was so nasty, it soon brought on a fever, blockage of his nasal passages, and labored breathing - especially when he slept.  We made our first trip to the Emergency Room just to check things out.  In typical Leo fashion, he was happy and calm for the ER staff.  Yet again, I heard "wow, you can't tell how sick this little guy is just by looking at him. But now that I'm listening to him, he's pretty sick!"  Thank goodness he was well enough to be discharged home, and mom's worries were put at ease a little more.

We had some awesome news in October as well. Not only was Leo approved for synagis injections (antibodies - very expensive ones at that - which help minimize the symptoms of RSV) for five months to cover him during RSV season, but our insurance is covering the cost of the medication 100%!  To put into perspective how exciting this news is... the injections total approximately $10,000 for the five months!!! We are thankful to God for the smallest of blessings, and even more thankful for this huge blessing! Leo made his first visit to the synagis clinic at the pulmonologist's office in mid-October. The injection is definitely no fun - given in two doses (one for each thigh), and the medication is thick so it really hurts.  He also ran a fever for almost three days after. But we are really hopeful this will help our little guy out, considering respiratory infections are so hard on him.

Last week, Leo had to return to the pediatrician for ear infections, and additional delay in the six month immunizations. At that point, he had been congested for over two weeks so we weren't surprised it had settled in his ears. He also visited the pulmonologist again to decide whether to make adjustments on his medications. No changes were made, but he did test for RSV and Leo was negative. This has just been a nasty virus of some sort that really is just starting to go away after more than three weeks.

Saving the best update for last... after more than FIVE months, we were finally given the green light to get rid of the pesky heart/apnea monitor!  Hip hip triple hooray!!!  I can't lie, we were really nervous at first to not use it, but Leo has done wonderfully without it.

So that brings us to the end of October. This past month has been Down Syndrome Awareness month, and in less than five days we will go on our first "buddy walk". With the help of our friends and family, $730 has been raised so far by our team "Leo's Lions".  We are so completely overwhelmed and grateful!  Money raised will go to the Down Syndrome Guild of Dallas. This organization has already been a pillar for our journey. We want them to be around for years to come, as Leo will rely on them to be there for him. We have been looking forward to this walk for months, and cannot wait to enjoy the experience as a family, with our friends, and with other families going through the same journey as us.

Thank you, from our little Lion!

May you all have a fun-filled Halloween!  Until next time...

love,  Joyce

Monday, October 8, 2012

What I've learned from Leo, so far...

Do you think it's ironic that in October 2011, I found out my son Leo would be born with Down Syndrome? Or am I just that lucky?  October is "Down Syndrome Awareness Month". I'm happy to say that one year later, in October 2012, I'm more aware of what Down Syndrome is... and what it is not.

Here are a few things I would love to go back and tell myself one year ago. And if you're a parent who has been given the news that your child has an extra chromosome, here are a few things I want you to know.

1. The families you read about who say how happy they are having a child with Down Syndrome in their family, how much they love their child with disabilities, and how wonderful life is... are honestly telling the truth.

A year ago, I scoured the internet looking for "real life answers" on how life would be having a child with Down Syndrome. I came across letters through the Down Syndrome Guild with stories about how normal things were for other families, and how wonderful it was to have these children.  I thought they must be fooling themselves. I searched through blogs and other sources on the internet... and still, only more bright and normal stories!  I thought they were just looking for the bright side, or painting a pretty picture for everyone else. Where were the stories about how hard it was, and how sad they were? Afterall, I was pretty sad and Leo hadn't even arrived yet!

So one year later... Okay, I admit it. I was wrong, and they were right. There, I said it!  Our life is completely normal. We have a 7 month old baby boy who brings joy to our lives simply because he is our son and a little brother to his siblings. He cuddles with us, smiles and laughs, he jabbers syllables, he makes stinky diapers and rolls all over the floor. Leo even throws some pretty mean fits, maybe I should be sure to share that sense of normal!  Simply put, he is a sweet, sometimes tempermental, and chunky 7 month old. Who just happens to have an extra chromosome.

2. It doesn't take someone "strong", "special", or hand selected by God to raise a child with Down Syndrome.

I still hear how "strong" I am, what a "special" family God has picked for Leo. I would like to think we are all of those things. But honestly, all Leo needed was a family to love him. The same as every other child. God heard our prayers for another baby, and science or nature formed him the way he was meant to be. Now since I'm NOT a perfect person, God gives His grace to cover my mistakes as a mom.  I just want you to know that if you're expecting a child with special needs, you don't have to be strong all of the time or special in any way. The only requirement is that you love your child... and believe me, you will!

3. You will be glad you had prenatal testing to inform you that your baby has Down Syndrome. You will be thankful to have the time to adjust to how he is made, so when he is born you can completely focus on him and merely enjoy his arrival.

I am so thankful we knew before Leo was born. The majority of families I have met through our DS connections didn't know prenatally. So many women say "I didn't want testing, because it didn't matter. We would have had the baby no matter what." Knowing in advance was the biggest blessing, as it simply gave me time to get my crying and sadness out of the way. It's as simple as that!

The testing wasn't to give us the avenue to decide about whether or not to continue with the pregnancy, it was simply to let us know if there was something wrong with our baby. But it did make me realize the "choices" that parents face with today's medical technology, and for that I am torn and sad.  For every Leo, there are 9 others like him that are terminated by their parents. That is a whole other night of writing... seriously. 

Bottom line, I would never have changed how things worked out for us. The numbers reported about the risk for amnioscentesis is VERY HIGHLY exagerrated, especially when you look at the treatment from high risk perinatalogists in major cities. The perinatalogist who performed mine had a complication in only 1 out of 600. That is miniscule compared to what we gained out of knowing. I will also say that for every mom I've met who didn't have testing done prior to pregnancy, they now say they wished that they had known.

4.  Even if your child requires a lot of doctors appointments or medical intervention, you will make it through. In the midst of all of those appointments, you will even find others who are going through more than you. So be thankful!

As you know, Leo has had a few minor issues. Yet things could always be worse. For someone else, they are worse!  Some weeks he has no doctors appointments, and some weeks there are several, along with therapy appointments. There are moments when life feels normal and routine, and times when I feel "doctored out". In the midst of those times, I've always seen or read about someone whose child is going through more. I would love to see no child going through a ton of medical treatment... but then again, we are blessed to have modern medicine to treat our children and give a better quality to their lives.

5.  The world has given you expectations of how your child should be born, but this child is going to change how you feel about that.

I don't know what I really expected Leo to be like.  I tried to imagine it, and could never clearly form him in my mind before he was born. I do know that when he was born, I instantly saw some of Meris (his older sister) and some of Seth (his older brother). The way he would sleep with his arms above his head like Meris, or the way he widens his big eyes like Seth.  When he was first born I thought, "Hmmm... this kid is just like my others. Are we sure he has Down Syndrome?" In fact, I can't tell you how many friends of ours would say the same thing. It was suggested that we should have him "re-tested". Well, I don't know... are we sure his DNA was correct the first time? Could his DNA have changed? Hmmm...

Looking back, I love the fact that we questioned whether or not our child has an extra chromosome. I love the fact that our close friends questioned it as well. Do you want to know why? It proves my point of how I feel today. And THAT is... there's no difference between my children. They are all perfectly and wonderfully made just the way they should be. I really do look at Leo and see him the same way as my other children. I really do! In fact, I remember filling out paperwork for Leo when he was a couple of months old and coming to the question "What is your child's disability?" and stopping to ask the person in the office... "Do I put Down Syndrome there?  Is DS a disability?"

I also used to think that I saw all children with disabilities equally as other children, but I was wrong. A child with a disability now captures my attention, unlike before, and I love to see them tick in their own special way. Having Leo has made me realize children with a disability compares to blue vs brown eyes, how tall they will be, if they are naturally athletic or a musician, or whether or not they have freckles. Oh I know... there's a bigger picture to have a disability. But really and truly, I don't see that right now.

His extra chromosome doesn't define him, it merely adds to the list of his features... you know, like "blue eyes, light brown hair, chubby cheeks, strong legs, and three chromosome 21."  Yes... that's my Leo.


Sunday, October 7, 2012

One year ago. The day that changed my life as a Parent.

One year ago today, the normal life I knew came to a screeching halt.  On October 7, 2011, I was given news that turned me into a scared, unsure, shocked, and grief-stricken mom-to-be.  Chris and I easily classify the two weeks that led up to October 7th, and even the weeks that followed, as the hardest period of time we went through as a married couple.  Life doesn't prepare you for what you even think will be hard, and nothing prepared us for this.

Today, I'm amazed at how things have changed in one year. There are so many thoughts I want to share with those parents who just found out their baby will be born with Down Syndrome.  To understand where I came from, here is the letter I wrote to our closest friends and family once we had a little time to process the news about Leo.  By reading this, you will instantly see how much my perpective and how much "I" have changed in one year.  We all know how Leo's story ends... but by reading this, you will appreciate even more what I will be sharing with you when I blog tomorrow.

November 9, 2011

Some of you know the very beginning of Leo’s story, but with many of you we have not yet had a chance to share.  The past six weeks have been very tough for our family, especially for Chris and I as parents.  Considering the unknown difficulties that may lay ahead for our family, I thought now would be a good time to share Leo’s story with each of you.

On September 22, I received the news every pregnant woman fears – there was an abnormal result from my 12 week nuchal translucency screening.  On the one hand it was scary, on the other hand hopeful that it was an error… a false positive… anything but a chromosome disorder for our baby.  The results showed our baby to have a 1 in 23 risk of Trisomy 21 (Down Syndrome) and a 1 in 5 risk of Trisomy 13 or 18, both of which are fatal.  No one wants to be that “1”.  I thought Trisomy 21 would actually be the better news, even though it was a lower risk.  At least with that our baby could live.  I heard story after story from other moms who had been through this abnormality, with results being false or incorrect, who ended up having a healthy baby or knowing someone who did.

On September 27, Chris and I met with the genetic counselor at my high risk doctor’s office.  She agreed with my OB that the risk of Down Syndrome was unlikely, but she feared the high risk of Trisomy 13 or 18.  We also found out that with Trisomy 13 or 18, certain or even most organs don’t develop correctly and a level 2 sonogram could possibly confirm those chromosome problems even before getting the results of the amnio.  The counselor felt the high risk we were faced with warranted an amnioscentesis in order to rule those out and ease our minds, or confirm the chromosome disorder and prepare us for the worst.  We agreed and scheduled the amnio.

On October 5, I had a level 2 sonogram and amnio.  The sonogram showed the baby’s organs to be developed normally (from what they could see in this tiny one).  We had hope!  Just to be sure, we followed through with the amnio being performed.  By the end of the appointment, at only 15 weeks into the pregnancy, we found out we were expecting a little boy.  Our second Boy!  A brother for Seth – yay!  ANOTHER brother for Meris, awww…  Two days later, we would get results from the rapid test called “FISH”. It provided results on the four most common chromosome disorders – Trisomy 21, Trisomy 18, Trisomy 13, and Gender.

On October 7, I received the call from the genetic counselor with news that changed our lives forever.  The FISH test confirmed Trisomy 21 (Down Syndrome).  My heart sank.  My mind went blank.  I wasn’t expecting this because it was the “lower” risk.  This should have been the “better” news, but to me it felt like the “worst”.  I should have been happy that our baby had a better chance of being born, a better chance of living.  But instead, my heart was broken into a million pieces at the thought of having a baby who would not know a ‘normal’ life.  I shared this with a few friends… again, everyone had a story of someone they knew who received a result from “a test”, with the same news, who gave birth to a perfectly normal baby.
Now you all know what I do for a living.  I work in the medical field with clinical research, I spin down blood and send it off for testing all the time.  I’ve seen patients, or at least read their clinic notes, with a new diagnosis who want to believe there was some mistake in the lab.  I spend time wondering why they feel that way, why they don’t just accept the test result and move forward?  Well for a while, I became that patient.  Wanting to hang on to some false hope that this was all wrong, and the final test would confirm that mistake.  Even though my heart wanted to hang on to any possible hope, my brain knew that it would be extremely rare for this result to be wrong.  But somehow, I convinced myself that I wouldn’t accept it fully until the results of the SECOND chromosome test, performed in a separate lab, came back.  Surely two results from two different labs could either confirm the result or point out the human error that I so desperately hoped for.

The next few weeks were a roller coaster of emotions.  On October 19th, the results of the full chromosome testing was completed and confirmed the Trisomy 21, yet again, was a fact.  Both tests had the same result.  This was really, really, real.

The next step would take place on November 2, at week 19, with another Level 2 ultrasound to look at the health of this baby boy… this little but growing bigger every day guy, our little Leo.  We never knew, until now, that there are a multitude of physical challenges for babies/children with Trisomy 21.  There is a wide range of heart defects (70% risk?), digestive organ defects, hearing and sight deficits, just to name a few.  And the most common issues, which we will wait even longer to determine, are the mental status and learning disabilities of this little boy.  At that sono on November 2, we received the best possible news parents in our situation could hope for.  Aside from the genetic testing confirming Trisomy 21, and aside from not knowing our baby’s mental status that will develop after he is born, this sonogram showed we had an otherwise completely healthy, 15 ounce (measuring large for his gestational age), with “big feet”, sweet baby boy.

Although our baby boy’s health is as good as we can hope for at the moment, there is still the possibility of some minor birth defects.  He is also at higher risk of not making it full term, although I am being followed very closely by my OB and Perinatologist in case intervention is needed.  So we ask for your prayers for his continued progress, good health, and God’s protection.  We are making a leap of faith that God will protect him, provide for him, and most of all give us the courage to raise this little boy to be whatever he was meant to be in our lives and in the lives of others who share his path.

So why am I sharing all of this?  There will be times ahead when we need the help and emotional support of our family and closest friends.  But most of all, as I've already mentioned, we need your prayers.  For us, and for Leo.  We have faith there is a reason God has chosen us to take care of this special little one, and we want to continue sharing his story with you.  Until the next chapter begins…

The Ghormleys

Thankful, today, for answered prayers.