stepping forward

With a diagnosis like Down Syndrome, there are many "next steps."  We have hardly had time to catch our breath since she was born, let alone return a phone call or update a blog.  Still, I'm thankful for these next steps because each one has reassured, empowered, or  educated us for the road ahead.  Here's a quick recap...

Blood Tests.  The diagnosis requires a full genetic panel of tests.  This came back confirming a Down syndrome, and eliminating some other (more rare and complicated) diagnosis.

More blood tests.  Her bilirubin was high (indicating jaundice), and her platelets were low (indicating her blood's inability to clot).  However, numerous doctors, nurses, and others felt the labs might be wrong, as she didn't show any signs confirming these problems.  More on this later.

More blood tests.  Thyroid tests have come back inconclusive.  In the womb, she received my thyroid hormone and antibodies, which are "wacky" due to my own thyroid disorder.  While mine is well-managed, it is still detectable in blood tests, which means we can't determine if she has a similar thyroid issue or if her levels are simply a reflection of her mother.  Another test in six months will tell us more.

More blood tests. Most other tests have come back wonderfully normal, eliminating (at least for now) worries of leukemia, metabolic disorders, and a range of other things more commonly found in babies like her.   Also, most recently, a third test confirmed that her platelets are in the normal range and the doctor feels no further concern of jaundice.

Do you notice that there have been a lot of blood tests?  This little girl has had quite a lot of blood drawn, sometimes with wonderful technicians, and other times with people who seem unaccustomed to newborns and their mamas.  It started at two days old, then at five days we had the biggest draw.  When some of the original numbers came back and caused concern, we were back again at 9 days, and again at one month.  It looks like the bulk of these tests is behind us at this point - there is one more scheduled at the end of September.

EKG and ECHO tests on her heart, complete with a visit with a Pediatric Cardiologist.  This is because nearly half of babies born with Down syndrome have heart defects, sometimes requiring surgery.  Obviously, nobody is eager for open heart surgery with her infant, and I was anxious for this appointment.  Our baby came out of it with wonderful news of a healthy heart and strong circulation.  We'll have a follow-up in a few more months to confirm that everything develops as expected, but this was a huge relief.

Lactation assistance.  I've breast fed all of my babies, and was determined to do the same with our youngest. She started out well, nursing and latching wonderfully, but days into her first week we realized that she was doing something odd while nursing, because (graphic warning here) it was getting pretty painful for me to nurse her and I began bleeding.  Ouch.  Fortunately, I have nursed babies before, and I knew this was not normal or something to just "deal with."  A quick call to our midwife (she came over right away) and a few simple adjustments later, and we were back on track.  By a week later, it was as if she'd never had any trouble at all and I was completely healed.  Now, she's eating (and growing) like a champ.

New pediatrician search.  Our family doctor, beloved and trusted as he is for us, recommended that we find a new pediatrician for our daughter.  He felt we should have somebody who worked with many other infants and children with Down syndrome, which is not the case for him.   There are wonderful, world-class specialists in our area, and he recommended finding a primary doctor with relationships and knowledge of those specialists, to help us access everything we can for the benefit of our child.  And, in a true sign of caring more about his patient than his bank account, our doctor told us that the cost associated with her healthcare could quickly drown us if we didn't have somebody who knew the "system" of dealing with insurance in these sorts of patients and their specialized care.  Frankly, I had many tears over this, but eventually was able to find a doctor I thought might work for us.  It was the hand of God, I'm convinced.  Not only is the new pediatrician a great fit and very experienced with children like our daughter, but he knows and highly respects our family doctor.  Yay!!

Early Intervention.  There are a variety of resources which can help encourage development, growth, and health in children with special needs.  In our case, these are available via an arm of the local school system and are free.  We have an appointment setup for an assessment, the first step in gaining access to professionals and programs we may need.

Community.  This is a long topic, and deserves its own post.  Hopefully I can do that soon.  Suffice it to say that our church, while disbanded from the local campus, has been connecting with us more lately.  What's more, we have many friends and family loving us well, encouraging us, and showing us incredible understanding.  We are blessed and very grateful.

Overall, our girl is incredibly healthy.  A normal baby, really.  She is eating well.  She's sleeping really well (oh - this is another good story - I'll try to write that soon, too).  She's getting her money's worth from our diaper service.  Life is hectic, full of appointments, but so far, so good.  I've said that each of my boys has a small folder with his medical info and history documents, but she has a three-ring binder.  She may end up with multiple binders.  As one who isn't a big fan of doctors, medical systems, or insurance rigamarole, this is a hard pill to swallow.  However, I'm learning and thankful each time we encounter somebody very kind, knowledgeable, and helpful.  I'm especially grateful that there are professionals out there who will help us navigate all of this.

There's more... much more.  Instead of writing right now, however, I'm going to go enjoy my family.  Love to yours,
MamaToo