CPAP. CPAP Go.

Ben has decided to forego his fighter jet pilot phase and has ditched the face mask.  Since birth, he has been on a CPAP (see-pap) machine, which stands for continuous positive air pressure.  It provides enough air pressure through the tubes connected to his face mask to help him breath and they have slowly been turning down the level of pressure.  Once he was diagnosed and they felt they had a handle on the cause of his problems, they more aggressively weened him off the CPAP.  Yesterday he was moved to a nasal cannala, which provides even less air pressure and is much less in your face (pun intended).  It was so great to see his face and get to know him without the machinery in the way.  

Today we just found out that they have taken him off the nasal cannala and he is breathing entirely on his own.  They are very encouraged about his progress and they don't worry much about what was causing his breathing issues, as he seems to be on the mend.  Once he is breathing on his own for some time, and is stable, we move to the next big challenge...feeding.  Until now he has been receiving food through a stomach tube that deposits food directly into his stomach (sort of takes the fun out of eating).  Without breathing assistance they can begin to bottle feed him.  With his breathing stable, we will really be left in NICU waiting until he is feeding well and gaining weight.  Unfortunately, this can take some time as his low muscle tone will likely make feeding very difficult.  But his progress is encouraging and we are certainly moving down the road to coming home.

We met with the geneticist yesterday and learned a lot about Down Syndrome and what to expect for Ben.  The outlook is positive with a lot that we can do to help him develop and reach his full potential.  We also learned about the potential medical implications related to down syndrome and Ben dodged the most common, and also most severe, complication related to Down Syndrome.  Nearly 50% of babies with Down Syndrome are born with congenital heart disease.  Luckily Ben's heart is totally healthy.  With that hurdle behind us, the immediate outlook is very normal.  He may have a hard time feeding early on, but other than that he will be a happy and healthy baby.  We will learn a lot about Ben and his Down Syndrome over the first three years of his life.  During these high developmental years we will begin to get a sense of the severity of his Down Syndrome and will learn better what we can do to help him.  They speak a lot about early intervention, consisting of both physical and mental therapy to help him develop, this is most important in the first three years of life.  At that point we should have a good idea of what the life long implications will be for him, once we see where he is both physically and mentally after those pivotal years of life.  All in all,  Ben is first a foremost Baby Ben.  He is a happy and healthy baby, that just might get spoiled rotten and receive a tad bit more love and attention than his "Middle Child" brother Emmett did.  He can look forward to a rich life full of plenty of fulfilling and positive experiences.  Secondary to all of that, he has Down Syndrome. Something he will never be free from, something that will always be present, but something that should never define who he is (Especially since he is currently being defined as the cutest baby this side of the Mississippi).

Chromosone 21: Two is Company, Three's a Crowd

We had a big day today.  Ben met some grandparents, met his big brother Parker, and we received a semi-final, yet seemingly conclusive, diagnosis.

Ben has been diagnosed with Down Syndrome, also known as Trisomy 21, a genetic disorder that is caused by the presence of part, or all, of a third copy of chromosome 21 (you normally just have two copies).  

This diagnosis was not entirely surprising, although we have been on a bit of a roller-coaster ride of "estimated" diagnoses over the past few days.  From the get go, there has been a consensus that Ben has a genetic disorder, based on his facial features (I guess something about being super cute is indicative of genetic disorders).  It was estimated pretty early on that Down Syndrome was not a likely candidate and the leading theory has been Achondroplasia, which is essentially Dwarfism.  However, the blood test results today provide more conclusive evidence than the physical markers.  While Dwarfism is not off the table as a secondary diagnosis to Down Syndrome, it is unlikely it is both. 

                                       

While this news is not something we were hoping for, we are excited to begin to really get to know Ben and understand what he is struggling with and how we can help him.  We instantly feel closer to him and can begin to look forward to the future of our lives with him.  That future now includes more struggles and difficulties than we would normally expect, but we are confident that with each challenge we will find a blessing and learning opportunity standing beside it.  We are excited that Ben has two big brothers to watch out for him.

This news could not have come at a better time.  We received the news shortly before we were heading to the hospital to hold Ben for the first time.  We had a very sweet experience getting to hold our baby boy....they are going to have to call Mr. Science himself to convince us that Ben is anything short of perfection.  We love Ben, and are so very excited he has joined our family.  We acknowledge that his difficulties will stretch us as parents and will require us to dig deeper into our limits of selflessness.  We wonder if we are up to the challenge and are worried he deserves better than us, but we are going to give it all that we have.  Something tells me that at some point along the line Ben will help us to become the parents he needs us to be.  We are already grateful to him for what he has taught us, and he hasn't even been at it that long.

By the way...confirmation on Ben's snuggling ability.  I lasted exactly 34.3 seconds before I succumbed to the dim lights and warming machine in Ben's room....all in the name of bonding.

The working assumption is that his breathing difficulties are due to low muscle tone, which is consistent with Down Syndrome.  The solution seems to be a matter of time for him to develop enough muscle tone, but this will continue to be the focus...figuring out how to get him breathing on his own, now that we know what the likely source of the problem is.  We will meet with the geneticist tomorrow and will have a better understanding of what the next days, weeks, months and years look like.

Stenosis of the Ferennnnumumum Magnarmerum....

I have made it a habit to mispronounce/make up several medical terms over the past few days. I am looking forward of putting this one to rest: “Stenosis of the Foramen Magnum.”

(Side Note: Alveoli are the tiny air sacs in the lungs where the exchange of oxygen and carbon dioxide takes place. Aoli, on the other hand, is a mayonnaise-like dipping sauce. For the record, Ben only has one of the two in his lungs, despite what I have been saying.)

One of the working theories about Ben’s restricted airway was that he had a Stenosis of the Foramen Magnum. The Foramen Magnum translates to “Big Hole” and is this guy, in red:

A condition some children with certain genetic disorders can have is a Stenosis of the Foramen Magnum, which is essentially the narrowing of this hole, and that can present as a restricted airway.  Today Ben had a solid few hours of MRI's and X-Rays and the result of the MRI showed that he does not have the suspected Stenosis that I have been mispronouncing.  While this is mostly considered to be good news it certainly leaves more questions about what is restricting his airway.  The next theory is that his muscle tone is too low to enable him to breathe on his own.  This can be be related to a thousand different issues, so the focus is on determining what the underlying issue is and then addressing how to get him breathing on his own, as well as evaluating the implications of whatever we determine the underlying issue is.

Ben had a busy day of tests and we expect to get a little more information tomorrow than we did today.  We hope to get to start holding him tomorrow or Friday, in the meantime we are administering love by hovering:

Dusting off the ol' Blog

As pictured in the header above, the Richards family blog has seen better days (circa 2010), but we wanted to provide some information and updates about the newest addition to our family.

Baby Ben

Benjamin Jeffrey Richards was born on Sunday July 28, 2013 at 8:25 AM.  He came a couple of weeks sooner than expected, and took us by surprise in a few ways.  He has a full head of black hair, just like both of his big brothers, but makes significantly less noise. 

The Past Couple of Days

He had troubles breathing out of the gate and they decided to take him to the NICU within the first hour. In addition to the respiratory issues, they noticed some key physical markers that indicate he likely has some form of a genetic disorder. Given the potential extenuating conditions related to genetic disorders and his difficulty breathing they determined he would likely spend a while in the NICU as they work through things.  After a couple of days of tests and attempts to correct the respiratory issues, the determination was made to transfer Baby Ben to the NC Children's Hospital at the University of North Carolina. We are grateful to the team at Rex Hospital that did a phenomenal job while we were there and that they knew when it was time to get us to UNC where we will have all the specialists we need to help Ben in the best way possible.   A transport unit, armed with some pretty legit jumpsuits, drove Ben to UNC on Tuesday, July 30 where he was admitted to the Newborn Critical Care Center (NCCC). UNC can provide a team of excellent specialists that will help determine what is causing Ben's breathing difficulties as well as evaluate the potential genetic condition and related difficulties he may encounter.  

After Ben was transported, Emily was quickly discharged from Rex…we are still trying to figure out why.  It is either the stealing of surgical gloves or picking of the nose...

The Problem

Ben's respiratory issues were two-fold and we have one down and one to go.  He initially was unable to get enough oxygen into his blood without a supplemental source, but with the treatments provided at Rex he was able to begin providing his body with sufficient levels of Oxygen...enter problem #2, despite being able to obtain enough oxygen from the air he was receiving, he is unable to actually get enough air into his lungs.  This is either due to some form of blockage in his airway or lack of sufficient muscle tone to pull in enough air.  The usual suspects have been treated by the doctors at Rex and have not repaired the problem.  The hope is that the specialists at UNC will more quickly be able to identify the source of the airflow issues.

Meanwhile, we await the results of several genetic tests to determine what condition his physical features are indicative of, if anything.  Some of the tests results will take another week and a half, but the specialists at UNC will be working to find other ways to get more confident on the diagnosis until the blood tests provide some definitive answers.

What Can I do?

We know everyone is eager to help, but there really is not much we can do or that we need at this point.  However, Ben's favorite food is currently glucose administered through an I.V...if you have trouble finding that, his dad really likes brown rice chips from Costco.

Taking a Step Back and the Big Picture

Ben is a sweetheart. We are eager for when we will be able to hold him for the first time, but he appears to be a great snuggler. We are yet to see him without some form of breathing mask on, but given his gene pool we are pretty sure he is handsome. Despite the potential struggles he is facing, he has quickly taken his place in our hearts and in the Richards family dude-squad.  He doesn't say much, but Emmett makes enough noise for the both of them.  He doesn't move much, but Parker spazzes out at least once a day in his honor. He is not quite ready to wrestle with his brothers or play pajama race, but we are confident he will get there and his brothers can't wait.  It is pretty easy to count the blessings in our lives and Ben has only made it easier, while adding to the overall count at the same time.

Ben is settled in at his new diggs in the NC Childrens hosptial at UNC.  They are starting fresh with his treatment and the diagnosis after being transferred from Rex. They will spend the next day or so gathering all the information they can to figure out how to help him best.  We will keep you posted.