I know many of you prayed for us while we were pregnant with Baby Ella and I’m very grateful.

If you’d like to continue in prayer, Ella was diagnosed three weeks ago with MethylMalonic Acidemia/Aciduria (MMA)

While we don’t actually believe this diagnosis, we do know something probably isn’t quite right.

4 weeks ago, Daniella was hospitalized in Iowa City for a few different reasons – elevated ammonia levels, failure to thrive, etc.  She had had a positive marker in her PKU test, but when it was repeated, it came back negative for any problems.  But then she didn’t gain.  She was a very “sleepy” newborn, but she was just over three weeks early so I kind of thought she was my odd one out.  None of our other early babies had been so sleepy, but I was just deeply appreciative of the 3 hour gap between feedings for the first time ever!  She had a pretty uneventful four day stay in the NICU right after she was born… Was born too quickly and her breathing was too rapid and she needed oxygen and to be watched.  But she bounced from that pretty quickly and they let us go home right after Christmas.  She dropped down to 5lbs. 13 oz. in the NICU (from 6.10) but we knew she’d regain once she had a chance to eat all the time. 😛

Unfortunately she really didn’t.  At one week after, she hadn’t regained, and was at 6.1.  So we went back to the pediatrician (OUR beloved pediatrician was on maternity leave) a week later and she was only at 6.2.  I was given the standard “New Mom” speech on how to breastfeed.  To be fair to him, he is a pretty new pediatrician.  Never mind the other seven children in the room WITH us that I had somehow managed to keep alive through breastfeeding, lol.  So I got the 15 minute lecture on how to wake up a sleepy baby, to nurse at both breasts, and for how long she needs to nurse.  Sigh. 🙂 At three weeks our ped. came back from her maternity leave and we visited her.  She was now up to 6.4. 😦  A baby at that stage should be gaining between 4-7 ounces per week.  It should be said I actually LIKED the new, inexperienced pediatrician.  Very nice man.  However, he was completely unfamiliar with our family and our kids so it wasn’t really his fault that he blamed nursing.  And to be even MORE fair, I really thought that maybe with how busy we were (packing, organizing, moving, preparing the house for the landlords, and Mark was gone in CA for the month of January) that I wasn’t nursing as often because she was really undemanding.

When we had our pediatrician, she felt based on our family dynamics (nursing on demand, co-sleeping, etc.) and with me having been an experienced nurser, that it was unlikely she wasn’t getting enough.  She was also worried about me mentioning that Ella seems to “tire quickly” at the breast.  So we went down for a chest x-ray and some labs.  Then an echocardiogram.  Then a consult with a pediatric cardiologist.  Then some calls to metabolic clinic in Iowa City.  Then some more blood tests.  The first appointment had been at 10:00 that morning.  By 3:30 we had had the echo and the consult.  At 5:00 the labs came back with a high elevation of ammonia.  At 5:30 they were arranging her stay at Iowa City and I was thanking God that all this was happening now, with family around, instead of a week later in Portland with NO friends and NO family!!!   (And maybe pleading a little too.)

They hospitalized Ella that night in Iowa City and ran tests and tests and more tests.  Honestly, labs, blood draws, medical whatnots, don’t usually bother me.  But they stuck her SO many times it was crazy.  She probably had approx. 20-30 sticks in those four days.  It wasn’t so bad pulling from her arm or her hands, but when they would stick her in the top sides of her feet, she’d scream.  😦

She has been having very muddled tests.  Initially we were met a couple of times by a metabolic physician/geneticist to examine our family history.  They felt she had a metabolic disorder that was genetic.  But, being the ninth child, it would be odd that we hadn’t experienced something like this before, statistically speaking.  And there is nothing in our families…. Mark’s dad is one of 12, my mom and dad are each one of 11 (well, Mom’s side had 12 but one died at birth), and Mark’s mom is one of six.  It seemed unlikely that with all of our family and cousins, etc., that something genetic wouldn’t have shown up before now.

In the end they sent us home saying there might be nothing wrong.  It looks like there were just coincidental false positives on three tests.  Okay, great!

Then on the following Thursday they called us to say, “We have a diagnosis.  She has MMA.  The metabolic team will be in touch to arrange how to care for her.”  They overnighted special formula, called in a prescription for levocarnitine.  That Saturday the pharmacy (CVS) prescribed the wrong drug to her.  They gave her an anti-seizure medication by mistake… To our six pound, three week old baby.  And I dosed her with it TWICE before I looked at the bottle and thought, “Hm. That doesn’t sound right. I wonder if it’s a generic for what she should have had?”  ALWAYS, ALWAYS check your childrens’ prescriptions.  ALWAYS.  In the end, six hours at the ER, it turns out that if the mistake had to be made, then this one was fairly benign.  Thank God.

They made an appointment for more tests and for a consult with the geneticist to better explain a plan for Daniella.  I should say that MMA is a horrible disease.  If a child has it moderately then the average life span is 6.5.  If they have it severely, the life span is now 2.5.  BUT, there are some adults who are diagnosed with it, and if they have it mildly they can live into adulthood.  Most are neurologically damaged and experience seizures or strokes, often in the first year or month of life.  Daniella has not experienced any of this.  They are also very likely to have problems if they get sick.  She has RSV right now… and NO metabolic crisis.

On the next meeting the metabolic physician explained to us that he is not happy with this diagnosis.  It just doesn’t seem a likely thing… Nine children, no metabolic problems.  Her MMA levels were only double normal levels whereas in a classic case of MMA you might find a child with 10-50 times the normal MMA level.  Also, further testing (albumin and pre-albumin) have come back normal or close to normal.  So, right now we’re in a holding pattern.  They stopped testing in Iowa City and turned her over to a metabolic clinic in Portland.  So, now we’ll see.

We aren’t entirely sure that she isn’t perfectly fine.  If you ask me she is absolutely NO different than any other newborn we’ve ever had.  At seven weeks old she is beginning to focus on faces and follow motion.  She is responsive to touch and sound.  She stops crying when she’s soothed and held.  She’s alert and adorable.  She has big blue eyes that focus well and she eats beautifully.  There are many reasons to doubt the MMA diagnosis… One that it’s genetic.  For another, MMA babies usually don’t nurse well.  For another, despite being sick (RSV with an ear infection currently) she isn’t having any kind of break down.

That said, she’s seven weeks old and even after having a GREAT gain of four ounces last week, she weighs only seven pounds and two ounces.  She eats great.  She potties just fine.  She has plenty of wet diapers and a great appetite.  She is a strong nurser.  In Iowa City they had us pump and feed her.   They needed to insure I had adequate milk supply.  And more importantly they needed to know the amount she was keeping down.  She ate more than enough to gain weight and yet didn’t convert that milk into weight gain.  That’s an issue.  She is very thin.  Her legs look like skin draped over bone.  Her little face is chubby and round and she has Abby and  Elizabeth’s round little cheeks.  I think her thighs are beginning to put on a little bit of chub.

So, we don’t know what’s going on.  But it seems like there is an issue.  We could use continued prayer.  I could use continued prayer.  I’m not normal a stressed out person.  But, her pregnancy was filled with a huge amount of stress, and then Mark being gone for a month right after she was born, then the cross country move, coinciding with several days in the hospital and a lot of medical appointments….  Well, I’m not a very pleasant person these days and I don’t really like walking around with a bad attitude all the time.  Added to that I’m not really used to no sunshine.  It really DOES rain a lot in Oregon, lol.  We’ve all been sick.  We started throwing up two hours after the plane ride.  (Better after than during, right?!) Seven out of the eight kids and Mark all got sick.  Sarah ended up with pneumonia and then Ella got RSV and an ear infection.  I have something as I think I’m going to cough up a lung eventually.

All in all I can honestly say everything is starting to get sorted out.  We’re mostly moved in.  The house Mark chose is lovely and very homey.  The kids are feeling MUCH better.  Ella is through the worst part of the RSV I think.  We have an appt. next week with the metabolic physician.  And we’ve found a pediatrician here that we might keep.  Much of this is answer to prayers.

I want to thank all of you for praying for our family.  We really, really needed it these past few months and I have no doubt that we are here now in Oregon for a good reason.  Pray that I stay faithful, leaning on God in all things.  And prayers for Ella are so very, very appreciated!

Now that we are getting settled in and life HAS to be calmer than the previous months, lol, I’ll be blogging a little more often.  I’m so sorry to those who have asked questions in the last couple of months and I’ve been unable to respond.  I’ll be trying to get to those soon as time permits!  Thank you again!

Advertisements