A New Year and 10 mo. (belated 9 mo.) check-up

With 2012 behind us, and all of the overwhelming challenges it brought... one of which was Leo's surgery, we are very excited to see what new things 2013 will bring.  I know it hasn't been very long since Leo's last update. But there are actually some new things going on and on the horizon that we had to take advantage of this chance to share!  The first being, Leo's belated 9 month well check-up.

Leo is actually 10 months old now. His 9 month check-up was delayed by our pediatrician because she wanted to see how he was doing after surgery. His stats:  weight 19.75 lb (25th %), height 27.5 in (10th %), and his round noggin measured in the 30th %!  His weight is right on track with where it has been, even though he hasn't gained in about 6 weeks. The good news is that he's re-gained the weight he lost during surgery.  Our chunky monkey has finally added some ounces on to his long term standard 24 oz per day... the past week he's been eating 28-30 oz per day.  He's been at 24 forever, it seems!  The only concern is his height.  He was in the 25th % for several months from birth, then the 50th % for a couple well checks, and at the 6 month visit he dropped to the 25th % and now the 10th %.  His thyroid is being rechecked to see if there are any issues causing the slow down.

In a way, our little man seems so big to us.  Yet his sister and brother were both in the 90th %... so he actually is quite small for our family standard.  His pediatrician went so far as to call him "petite" today. Who would've thought?  No matter what his size is, he is perfect to me.

The only other area of concern was an elevated platelet count.  This could be caused by the fact that he's just getting over the viral infection and pneumonia.  Leo will go back in a couple weeks to get the platelet count rechecked.  We would appreciate prayers for this area!

As far as development goes, and I quote, "he looks great!"  Apparently some of his recent tricks show he is leading up to crawling very soon.  He is much stronger and more balanced than what he wants to lead mom and dad to believe. Hmmmm... I wonder who likes to be held??  He actually sat up much longer for his doctor than he ever has for mom.  Apparently, we have ourselves a show-off... 

After 10 months of sleeping "elevated", aka ... sleeping in the bouncer chair, we have the go-ahead to move him straight to laying on the mattress.  Hooray!!  Now our big boy can enjoy sleeping in whatever position he likes.  He has wanted this for several weeks, so he happily put himself to sleep on his own tonight, sleeping on his side on his big boy crib mattress.

Now for our biggest news of all... Leo has been working on his first two teeth coming in for the past 10 days.  Yes, not one but two!  Finally, today... (and honestly, with the way he screamed on the way to take Meris to school this morning - I think that is when it happened...) his first tooth finally broke through!  I can't capture a picture yet, as it isn't in far enough... and little fat tongue keeps getting in the way... but believe me, there will be plenty of cute toothy pictures to come very, very soon!

We hope you all have had just as great of a start to 2013 as Leo has.  It's going to be a great year!

Love,
Joyce

where did December go?

In the blink of an eye, just like that, December is gone. In all honesty, December was a bit of a blur!  For the past 5 months, we anticipated Leo going through surgery and for the past month, preparing for it consumed a lot of our time. Now that Leo is 12 days post-surgery, things are finally back to feeling normal.  Which brings me time to do a little December recap on 9 month old Leo.

First a little developmental recap -- Leo has really proven himself this past month. He has gone from a struggling to a confident "sitter", even if for a few moments before he tumbles over. He pushes himself up to "all fours" (hands and knees) and rocks, so he is really gearing up to take steps toward crawling. He still loves to bear weight on his legs and will hold on to toys in a standing position (with assistance) for a minute or two before tiring to fall.  His upper body strength has always been weaker but for some reason, he has really gotten stronger this past month.  Maybe it's that he's worked so hard in physical therapy, or maybe it's timing where he is just starting to catch up. Either way, we're so very proud of how he pushes himself and how far he has come!  Verbally, he's been blowing raspberries this past month and is adding "mamama" a little more often.

For the rest of my recap, I began to type this three days ago and at this point I think I've rewritten it about 5 times.  In part, because I've had many interruptions. But also in part, what I wanted you to read was not initially coming out onto the keyboard. In the past several months, giving a recap of what Leo's been up to has almost been a rundown of the many appointments, new diagnoses, or other obstacles he has been working through. But in truth, December came to mean a lot more than that to me.

The quick and dirty medical recap would say Leo had about 15 appointments in December, spent time being sick and on four consecutive rounds of antibiotics, had surgery on December 20th for the obstructive apnea, post-surgery caught a virus that led to pneumonia, became dehydrated, was readmitted to the hospital so that we spent both Christmas Eve and Christmas day hospitalized, continued to struggle with recovery for several days after coming home, but now is doing great.  I could have shared with you all the original details that I typed which extended the explanation of everything into about seven more paragraphs!  But again, there are so many more meaningful things I am taking away from December in my heart that I would rather share.

Until this past month, I had no clue what other families in our DS community (or any family, for that matter) went through to prepare for, go through, and recover from surgery with a child. I was one of the ones who sent my prayers beforehand, asked how the child was afterward, and went on about my business.  I now have a new level of appreciation for, and compassion for, all that parents do for their children under these circumstances.

I've come to realize that complications like sensitivity to morphine, dsats (drops in oxygen saturation levels) due to inflammation or respiratory illness, resistance to eating when the throat is sore, and dehydration are common to infants or children with DS.  Likewise, Leo has shown that a fighting spirit and a sense of normalcy are just as common.  For example, even while on oxygen, heart monitoring, with an IV in his arm, and running a fever, he still insisted on having tummy time in his hospital bed. Even when he felt his worst I was amazed by his spirit. How he wanted to turn over, move around, and even play for short periods of time!

I have to be honest - when Leo was admitted to the hospital on Christmas Eve my heart sank. My first thoughts were about our 3 year old at home, how it wasn't fair that I wasn't there to make cookies for Santa and have Santa's gifts ready for when he woke up Christmas morning.  The stockings weren't yet hung by the chimney with care, and a lot of things were left completely undone.  As hard as I tried, I did not have every little detail of Christmas completely done prior to Leo's surgery. I thought I would have time afterward, but I was wrong. I also thought about our 14 year old daughter and how I wanted to be at home when she opened Christmas gifts, yet it would be so unfair to have her wait. All my little traditions that I had carefully built over the years and the perfect Christmas morning we would always have had been torn away right before my eyes.

I quickly learned of so many other friends who have been through the same thing - DS or no DS, families who had at one time or another spent Christmas with a child in the hospital. That's when I told myself if they could survive it, so could we!  I also learned.... Santa could wait and come later after mom and Leo came home, he was fine with that.  He had done it before for other families and would do it for us.  Allowing a 3 year old to open gifts just from grandparents on Christmas morning was enough to bring the biggest joy to him.  He didn't need to open all those other gifts afterall!  Knowing that there were gifts still left under the tree to by opened by our 14 year old was actually exciting to her and she enjoyed having Christmas spread out over a few days instead of finished by 9:00 am on Christmas morning. Volunteers at the Children's Hospital who delivered gifts to all three of our children on Christmas day in Leo's hospital room inspired our family to want to be a part of that joy for other families next Christmas.  Ordering room service from the hospital cafeteria could be fun because it became our "Christmas Feast", per Seth, and a wonderful meal to enjoy together as a family. 

But the Number One thing I learned... is that when you have a sick child, all time stands still and nothing else matters... not even Christmas.  Having our family together in one room was holiday enough, traditions went out the window, and even in the eyes of a toddler and a teenager there is complete understanding that the focus needed to be on Leo. This Christmas reminded me of what truly matters, and that was definitely not the wrapping paper, the gifts, the filled stockings, the traditions, nor the perfect Christmas Eve meal. It was simply being together.

As I reflect on all that I've shared with those who read my blog over the past year, I hope you take away one thing.  Not that Down Syndrome is a burden, not that having a child with special needs is a chore, but that no matter who your child is and what their needs are, you just rise to the occasion as a parent. Not as a supermom, not because you were the chosen one for this special child, but just because that is all any good parent would do out of love for their child.  From there, everything else just manages to fall into place.

I can't wait to see what Leo has in store for us in 2013. I know there will be some trials (because with any kids, there just are...), but I also know there will be immeasureable joy!

Happy New Year to each and every one of you.

with love,
Joyce

A little medical update on our lil' turkey - 8 months!

It's that time again, the end of another month. I know, I know... I'm a broken record by saying this. But I just can't believe another month has gone by!  Soon, Leo will no longer be 8 months old. His first year is going by way too quickly!!

Here are some updates on our little turkey....

November actually started out pretty slow and quiet, with fewer dr's appointments than normal. After more than two months of either steroids for croup or wheezing, Leo was FINALLY well enough to have his 6 month immunizations.  I was really excited about that until he ran a fever over 103!  This was his highest fever yet, and a little scary. He was miserable for about two days and then fine afterward. He also had the second of five months of synagis injections. Luckily, this month he had no reactions at all. Not even a smidge of fever.

Despite these brief "well" periods, Leo continued to have fluid in his ears, ear infections, and sinus infections. He's been on antibiotics for all of November with the exception of 6 days - currently on his third round. The good news is that he's required fewer breathing treatments this month than September or October, despite all his chest congestion. We think the Advair has helped tremendously. The bad news?  Advair in Leo's dose is now on 'back order' by the manufacturer and out of stock in all pharmacies in our area. Possibly another example of a pharma company choosing to stop making a medication dose that isn't in high demand, since it isn't as profitable?? So we recently had to switch to Symbicort. Praying that it will work just as great!

This month also brought along his follow-up with the ENT doctor. I had been dreading this visit for a while, since I knew it would bring us to facing the decision of surgery again. But now that the time is here, I'm just ready to get it all over with. Dr. Mitchell, Leo's ENT, and Dr. Rosen, Leo's pulmonologist, both agree that a current sleep study will ultimately decide where things stand with his obstructive sleep apnea and will decide for us whether or not we'll need to go ahead with surgery. As of right now, surgery is actually scheduled for December 20th. It would include removing tonsils and adenoids (to resolve the obstructive apnea), a bronchoscopy to look at his airway structure, tubes in his ears to resolve the fluid and infections, and ABR (auditory brainstem response) which is a hearing test performed under anesthesia to check for any level of hearing disability. The ABR is standard for babies and young children with Down Syndrome any time they are scheduled to go under anesthesia. Some level of hearing loss affects about 60% of children with DS, so it's important to identify and treat as early as possible.

So, the sleep study took place last Saturday night. Let me tell you... this one was even less fun than the first!  Leo woke up and wrestled with the wiring and nasal canula about every 15 to 20 minutes from 8:30 pm until 3:00 am, at which point he slept for a whopping 75 minutes straight (with a very sarcastic woooo hooo....).  At 4:15 am, there was no getting him back to sleep. Please pray that the technician didn't exagerate by saying he had enough data on his sleep.  I can't imagine either of us having to go through the all night battle of another sleep study any time soon!  Not to mention paying another $500+ out of pocket expenses to go through it again... ugh!!  I promise you one thing, this boy could pull a Houdini on any given day. He was ripping gauze, moving wires, and removing tape like nobody's business.  If only we could market that!

Last but not least, there was a visit to the GI doctor yesterday. It was by far the best visit of all this month!  After a huge weight gain noted at the previous visit, which was pretty concerning, Leo is now holding steady at the 50th% on the growth chart weighing in just over 19 lb. He's doing better symptom-wise with his reflux. The amount of food he's regulated all on his very own, right at 24 ounces a day, is perfect for his growth. Sidenote - I'm always amazed and surprised he can survive on such a small amount of food for his size, but apparently DS causes a much different (and usually slower) metabolism which requires less food.  The fact that he is regulating this all on his very own, and that we're not pushing him to eat what our previous babies would normally eat at his size, got us kuddos and props from his GI doc.  He's doing so well that he gets to wait another three months before going back for another GI visit!

On the therapy side of things, he's been working really hard with PT, OT, and speech (feeding) therapy. He's doing really well working on upper body strength and has come a looong way toward sitting up. Especially in the tripod position (holding his upper body up with his hands on the floor, while in the sitting position) for up to a minute, and he's starting to sit up for a few seconds at a time without holding on to anything at all!  Even though he's behind when Meris and Seth met this milestone, our pediatrician says he is still within the range of a typical baby at this point. He's also working on some new sounds beside ba and da.... he's actually working on Ma!  My heart swells at the thought of him saying mama.  (I've only been saying it to him since about one month old, you know!)  So three cheers for our Leo, what a hard worker you are!

To close things out, please keep us in your prayers this next week as Monday, December 3rd, we return to the Pulmonologist and get the results of the sleep study. Again, this will be the deciding factor for surgery on the 20th. We are at peace with whatever the outcome is, as we only want whatever Leo needs. Obstructive apnea can cause pulmonary hypertension and new cardiac complications for him, so we want to fix this if needed. Please pray that the sleep study actually has enough data so that a decision can be made and not postponed. Surely God will have some mercy on us, or at least pity, after what we went through last Saturday night!

Blessings from Leo to each of you...

Love, Joyce

Giving thanks, in November.

All month long, I've been reading about what all of my "facebook friends" are thankful for. Each day there is something different. Friends, family, children, coffee, seat warmers in the car, a free Saturday with nothing on the calendar... the list is endless. Even though I wasn't one of those posting my "daily thanks" this year, believe me, I have so many things to be thankful for. I truly do! 

One of the things that I'm most thankful for this year has been Leo's good health. You wouldn't guess it by reading about all of the doctor and therapy appointments he has been to so far, or by the look of my calendar in the month of December - as we are bound to set a record for him! But compared to a friend in our local DS community with a baby who went in for open heart surgery a month ago who has been in ICU ever since, compared to our friends who have seen their sweet daughter go through the unimaginable in her fight against leukemia for the past 18 months, and another friend whose sweet boy has been battling brain cancer for years with an incredible amount of therapy, as well as the endless stories of other children fighting health battles that I seem to come across everywhere, every day...... in comparison, I. Am. Thankful.

Even more than this, I am thankful to have a heavenly Father, almighty God, loving Lord... who listens to our prayers as we petition Him for all of these children. One who provides comfort and peace for those in need. Who tugs at our hearts to reach out to others who need His love as they walk through their darkest days, especially those moments when caring for and worrying over a sick child. A loving God who sent his one and only Son to be born in a stinky stable and die a cruel death on a cross to save us all - giving us the Hope of an Eternity with Him, along with those that we love.  For this reason, above all things, the one thing I am most thankful for this month is .... Leo's baptism. 

On November 11, 2012...

We made a vow to raise Leo in a Christian home.

Leo John Christopher Ghormley was committed to our heavenly Father!

and we Celebrate!



2 Timothy 3:14-15   But as for you, continue in what you have learned and have firmly believed, knowing from whom you learned it and how from childhood you have been acquainted with the sacred writings, which are able to make you wise for salvation through faith in Christ Jesus.

With love,

Joyce

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

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.

Love,
Joyce

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.

Love,
Joyce