World Down Syndrome Day

Today is World Down Syndrome Day!  This day is celebrated around the world on the 21^st day of the third month to signify the triplication (trisomy) of the 21^st chromosome.  So today I wanted to share with you what I knew about Down syndrome before, and what I have learned over the last couple months. 

While I knew a little bit about Down syndrome growing up, and in my young adult life, I must confess that I didn’t know more than the very basics until about 5 years ago.  At Jack’s kindergarten party, before the school year started, I learned that he would have a classmate with Down syndrome.  I remember calling my mom and asking her the best way to talk to Jack about it.  (My mom has worked with people who have special needs, including Down syndrome, in the past).  She told me just to tell Jack that everybody wants the same things in life no matter what their differences are: to be loved, listened to and respected.  When she put it like that it seemed so simple, and true.  That advice has replayed over and over in my head for so many different scenarios over the last five years. 

I have learned so much about Down syndrome over the last five years because of our school and its RISE program bringing these kids into our lives.  RISE stands for Religious Inclusive Special Education, and it is one of the things I love most about Marquette, even before we found out about Matthew.  But as I was spreading the news to our extended family and friends who aren’t at Marquette, I realized that there are so many people who know so little about it.  So this day serves as the perfect excuse to spread a little bit of knowledge and awareness to those who will know and love Matthew!

Down syndrome is the most common genetic variation.  It occurs when an individual has a full or partial extra copy of chromosome 21.  The extra genetic material alters the course of development and causes some of the common characteristics associated with Down syndrome.  It occurs in all races and economic levels.  The cause of Down syndrome is still relatively unknown, but is not caused by environmental factors or anything the parents did before or during pregnancy.  The chance a baby will have Down syndrome increases with age of the mother, however 80 percent of babies born with Down syndrome are born to mothers under 35 (like me). 

Of the many symptoms associated with Down syndrome, very few people have all of them and many people have very few.  Just like every other person, Matthew will grow to have a unique personality and capabilities.  Down syndrome causes developmental delays and, typically, mild to moderate cognitive impairment.  Both, however, range across a broad span and the degree depends on the individual.  Low muscle tone is also common in people with Down syndrome.  This can affect how soon a baby will reach milestones such as sitting up, walking and speaking.  People with Down syndrome can do almost anything a typical person can do, it might just take them a little longer to master it.

People with Down syndrome today have a brighter future than ever before.  In 1983, when I was born, the life expectancy of somebody with Down syndrome was only 25 years old.  Today, it is 60, and will continue to rise.   With the ever-expanding knowledge of how people with Down syndrome learn and the best ways to support their development, individuals with Down syndrome are much better able to reach their full potential than in generations past. People with Down syndrome can grow up and live independently, go to college, get married and have jobs. 

While we have no idea what the future holds for our sweet little Matthew, we do know that he will be the person that God made him to be.  He will be surrounded by a loving family, who will give him every opportunity possible to grow and learn and live a happy and prosperous life.  He will get to go to the same private, Catholic school as his brothers.  He will be able to play sports with his classmates if he desires.  His brothers will learn patience and respect for his differences and be his biggest cheerleaders for his victories.  And I am certain that he will teach us all many more lessons than we could have ever imagined. 

Please don’t be afraid to ask us questions.  We still have so much to learn as well, but J.P. and I have both immersed ourselves in reading and taking in as much as we can. 

Here are a couple good resources for anybody interested in learning more:

http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/

http://kidshealth.org/en/parents/down-syndrome.html#

And I have to share this video about the RISE program at Marquette:

https://www.youtube.com/watch?v=usbbuF4I1XU

Chapter Two: A Big Decision

I am a planner.  I can’t stand limbo, or the unknown.  So it is with great excitement that I will tell you:  We finally have a game plan for this little guy’s big arrival!  But first, I am going to give you just a little background on how we came to this decision.

After doing some research online and talking to our doctors we narrowed down our best two options to Dallas and Kansas City.  Our doctor said there may be somebody in Oklahoma City who might be able to do it, but we don’t want somebody who might be able to do it, we want somebody who could do this surgery with their eyes closed (although we hope they keep them open!)  

First, we visited Medical City in Dallas.  Ben had surgery here in 2010 for craniosynostosis, and we had a great experience there.  There is an amazing OB down there who only takes referrals and coordinates all the care for high risk Mommas and babies.  He was incredibly nice and optimistic about our given situation.  We were very impressed with the coordination aspect, because that has been a challenge over the last couple months.  Knowing who is taking the reins has been a bit of a challenge, so we were excited by the prospect of knowing that would all be taken care of.  We also met with a pediatric surgeon who went over the entire spectrum of what could happen after our baby is born.

We also got to tour Labor and Delivery and the NICU.  I had a bit of a meltdown moment in the labor and delivery room.  It made everything we have been dealing with and planning for real.  Knowing that the second this baby is born he will be whisked away and be poked and prodded is heart breaking.  A baby’s birth is supposed to be exciting and happy, and for this little guy I know that fear will be the overwhelming emotion.  Until I was standing in that labor and delivery room, looking at the bassinet and the little hat laying there, I had been able to suppress those thoughts and focus on what was immediately in front of us.  In that room, it all hit home.

After I pulled myself together, J.P. had to leave to head back to Tulsa.  I stayed behind for one more meeting.  I met with a Neonatologist, and PICU doctor and one other NICU nurse practitioner.  It was a very informative meeting, but the neonatologist definitely didn’t sugar coat anything.  I walked out of the meeting feeling nauseous and overwhelmed.  It was a long day, and a long four hour drive home to think it all over. 

Ten days later we finally made it to Kansas City to visit Children’s Mercy Hospital.  They were adamant that we do a detailed ultrasound and a fetal echocardiogram before we met with any doctors.  I was a little annoyed by this at first, because it meant spending 3 hours in ultrasounds during an already long day.  Couldn’t they just look at ALL the ultrasounds we have had done in Tulsa?  But I decided to roll with their way of doing things and go with it.  I am sure glad we did!  We got some AMAZING news!  The cardiologist could not see any heart defect at all on the baby!  That means probably no heart surgery down the line and a much more positive outlook for his hernia surgery!  Even the nurse was smiling ear to ear at this news!  We also learned during our ultrasound that the baby’s right lung is still very good size, so more good news.  After all the ultrasounds and meeting with the cardiologist and the Maternal Fetal Medicine doctor, we got to tour their labor and delivery and NICU.  Children’s Mercy only delivers high risk babies, so their labor and delivery unit is very small.  They only do about 15 deliveries per month.  However, because every delivery they do is high risk they are extremely well prepared!  The labor and delivery room opens into another room where they will take the baby right after he is born to stabilize him.  Instead of J.P. and the baby having to go a floor down they will be in the next room, where I can still see and hear what is going on.  This makes a world of difference to an anxious Momma!  I didn’t even shed a tear in that labor and delivery room.  It is such an amazing setup for our situation.  We then headed to the NICU, which is huge.  They have 82 beds in their NICU, and take children from 5 surrounding states.  It was sad to see SO many babies in there, but seemed like a wonderful facility.  At the end of our day was a consultation with a neonatologist, surgeon and a genetic counselor.  The surgeon went over our MRI that we had done in Dallas with us and told us what his plan of action would be.  Then the neonatologist told us a little bit about how he would care for our baby.  They both seemed very optimistic, but also said that everything will depend on how he is doing when he gets here.  There is only so much they can learn and plan for while he is in the womb.  We left this meeting still a bit overwhelmed, but with a positive feeling.  We got in the car and J.P. immediately said, “So, do you think it's obvious where we should go?”

We have decided to have this baby in Kansas City!  Every single person we came in contact with at Children’s Mercy was friendly and genuinely had our baby’s best interest at heart.  There were two major deciding factors for us.  First, the labor and delivery.  Knowing that Matthew won’t be whisked out the door the second he is born means the world to me.  He will still have all the same care he would have in the NICU down the hall, but it will be about 15 yards from me.  And J.P. will be able to be with both of us.  The second major factor for us is that Jack, Luke, Ben and A.J. can come visit the NICU in Kansas City.  In Dallas you have to be 13.  The thought of our boys not meeting their baby brother for possibly months was too much for us to bear.  Kansas City is definitely the best place for Matthew and for our entire family. 

We are still nailing down the details as far as timing and where we will actually be living during all of this.  But we are hoping that I can stay in Tulsa until I am 36 weeks along, which will be right around Easter.  In the meantime, I will see my high risk OB every week for a non-stress test and ultrasound to check growth, blood flow and movement.  If they see anything that makes them think I may go into labor early we will be heading to Kansas City immediately.  Hopefully I get to stay in Tulsa with all my boys as long as possible! 

The updates should be a bit more brief from here on out, at least until he is born.  We appreciate all the love, prayers and support we have received so far for this little guy.  We can’t wait to meet him!!

Chapter One

From the very moment we found out we were expecting baby #5 our life got even crazier than normal.  One of my very first thoughts was, “Who has 5 kids these days!?”  The answer: us.  We are going to have five kids!  We need a new house!  My new car won’t fit two rear-facing carseats!  I am going to have two under two... again!  It took a few days of panic before I settled into the idea and started to get excited about adding another little person to our brood. 

Within a matter of weeks, before we even told anybody I was pregnant, we had bought a new house and began to get ours ready to sell.  The day after our house hit the market it sold, to the first lookers!  How lucky were we!?  Then came moving... right before Christmas... with four children.  Not our best idea.  But our hope was at least we would be settled into our new place long before baby arrives. 

We survived Christmas with our four crazy boys in our new house.  Maybe things would finally get a bit more routine.  Wrong.  Two days after Christmas we went in for my 20 week ultrasound, which is a full anatomy scan where they check the baby from head to toe.  I have done enough of those in the past to know that something wasn’t quite right.  The tech never said “everything looks great” and she kept looking back at his heart.  We went back to the waiting room until the doctor would call us back to go over everything and do my regular checkup.  I knew, in my gut, that something wasn’t right.

The doctor informed us that there were a few things they saw on the ultrasound that can be associated with Down syndrome, and she thought it would be best if I did the genetic screening that looks for chromosomal abnormalities.  I cried, of course, because no mom ever wants to hear that there is anything wrong with their baby. But I tried to not worry about anything until we knew for sure. It would be at least ten days before we would hear the results, and maybe longer because it was a holiday.  Luckily, we were off to Colorado the next day with J.P.’s family.  It served as a wonderful distraction and some time away from boxes and projects at the new house. 

Exactly ten days later I got a call from the nurse.  They wanted me to come in that afternoon to go over my test results.  I’ve been around long enough to know that they don’t give bad news over the phone- if everything was normal they would have told me then and there.  I wanted to vomit for that entire three hours between the phone call and going into meet the doctor.  My test results came back positive for Trisomy 21, or Down syndrome.  There is a 1 in 1,500 chance of a false positive, but given all of the markers they had seen on the ultrasound we are probably not one of those false positives. We decided to accept the probable diagnosis and not do any further invasive testing. 

J.P. and I left that meeting feeling overwhelmed, but not crushed by any means.  We were still grateful to have another little boy on the way.  Will we love this baby boy just as much as we love all our other ones?  Absolutely.  In the car on the way home J.P. said to me, “God has been preparing us for this baby without us knowing for a long time.”  And he is absolutely correct.  God gave us this little boy for a reason, and we are going to do everything we can to give him the best life possible. 

We went straight home and told our boys.  Thankfully, there wasn’t much explaining to do.  Jack, Luke and Ben are all around kids with Down syndrome on a daily basis at school and we have discussed it many times over the course of the last 5 years.  Jack or Luke had even asked us when I was pregnant with A.J., “Will this baby have Down syndrome?”  We simply replied, “Probably not, but we would love him just the same if he did.” 

The following Monday we had an already scheduled appointment with a maternal fetal medicine doctor, Dr. Rosnes, to look more closely at the baby’s heart.  It was another overwhelming appointment with so much info thrown our way we could not process it all.  He said our baby has a diaphragmatic hernia and a heart condition, both of which can not be treated in Tulsa.  I will have to deliver the baby somewhere else.  I think J.P. grasped the severity of the situation much sooner than I did.  We came home and I thought to myself, “It’s all fixable.”  Then, I googled it.  Bad idea.

A congenital diaphragmatic hernia, or CDH, occurs when there is a hole in the diaphragm.  This allows the organs that should be contained in the abdomen to move up into the chest cavity. Our baby's liver is slightly protruding up into his chest cavity on his right side.  This is a very serious condition which can be life threatening, as it affects lung development.

The first few weeks were overwhelming, stressful and scary and we were still in a little bit of shock.  Since then we have been to Dallas twice and Kansas City once to meet with doctors and visit hospitals.  We have met with cardiologists, pediatric surgeons, neonatologists, radiologists and had what seems like a million ultrasounds.  We have been working hard to make the best plan for this baby and for our family. 

It has been a crazy and stressful journey- and it's only beginning. We will try to keep everybody updated along this crazy journey. 

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