Anastasia: The Early Days

Twenty days ago Anastasia made her dramatic entry into the world; God willing, before the end of today she will depart the hospital and come home to live with her siblings! Twenty days ago we were ready to accept that God might call our new daughter to her eternal home before she reached a week in age; now, in wonder, we’re cautiously optimistic that she could live into adulthood. There are still many, many unknowns and a long, uncertain road ahead but it’s looking more clear that the road will actually extend well into the future.

While there are many unknowns we have received a couple answers. Within a couple hours of Anastasia arriving at Children’s Mercy Hospital one of the doctors said that he was certain that Anastasia had a genetic defect. While his initial guess what that defect might be (a Trisomy condition) was wrong, he was correct in the general statement and this week we received more information: Anastasia has what’s called “7q36 Deletion Syndrome” meaning there a deletion on section 36 of her 7th chromosome. Feel free to Google (with Bing) that syndrome: while Anastasia isn’t the first in the medical literature to be diagnosed with this she might be the only person within 200 miles with it at the moment. As such, what to expect going forward is somewhat unclear. 7q36 deletion isn’t really “a thing” so much as a spectrum and while we believe that Anastasia is on the severe side of the mean on this spectrum that doesn’t really tell us much. Her other symptoms that we’ve covered before — seizures, orofacial cleft, holoprosencephaly, microphthalmia, and a couple other Greek-medical vocabulary terms — are all consistent with 7q36. About the only thing we can say at the moment is that we expect Anastasia to be with us for the next several months so if you like these updates, there will be future reading material!

But the big news, which I mentioned at the top, is that — barring a sudden setback in her condition this morning — our baby girl is coming home today. For that reason I’ll skip the photos this morning and will send some homecoming photos either tonight or tomorrow.

Thank you again for your help, prayers, notes, food, babysitting and other assistance — there is no way to thank you enough and I pray that we never forget to implore God to reward you!

We’re sorry for the delay in updating. Life is a bit hectic right now, as I’m sure you all can imagine (and some of you can relate!). Here is what has happened since Friday, when we had a “care conference” with Anastasia’s medical team about how we will care for her when she comes home, and what needs to happen before then (Mom and Dad need to learn how to use the medical equipment she will need).

We discussed how she will be fed at home. The goal is to eventually get her to breastfeed and/or take bottles, so they are going to let her come home on her OG tube, which is a thin tube that goes down her throat into her stomach. In the meantime Mom and specialized OT’s will work with Anastasia on coordinating the suck-breathe-swallow action that most babies instinctively have at birth. This could take some considerable time since her seizure meds keep her drowsy and she also tends to drop her oxygen saturation levels when we work with her on this. If she shows no improvement over a few months and she seems healthy enough to undergo surgery, we will talk about the possibility of putting in a G-tube.

Regarding her seizures – this is the main thing keeping us at the hospital right now. The neurology team is trying to find the right dose of two seizure meds in order to keep her seizures under control. They are trying spreading out the meds, slowly increasing one or both, etc. With HPE they tell us she will never be seizure free, but if we can keep her seizures under control without needing a “rescue drug“ more than once or twice a week, that would be ideal. Right now she has been needing a rescue drug daily to pull her out of seizure clusters (short seizures that come back-to-back for 30 min. or longer) or seizures that last longer than five minutes. The rescue drug is similar to Valium. It calms her, sedates her, which results in a baby that is not alert enough to interact or work on oral feeding.

Anastasia has been off oxygen assistance for about a week now, but they are talking about putting her back on a low flow as her saturation levels tend to drop overnight. We will see how she does tonight. The low flow is something she can have at home, so this is not something that would keep us at the hospital.

As of right now we are all hopeful that she will be able to come home by the end of this week, but a change in seizure meds can take 3 days to monitor its effectiveness, so if the changes they are making now don’t work, we could be here into next week.

As you can see, we still need lots of prayers. Please keep them coming, and thank you for all that you have sent our way so far.
God reward you!

Regards,
Daddy and Mommy

And the best part: photos!

Gotta flex, gotta exercise…

Purple is my color right now — matches the attachment point of my feeding tube.

It’s been a few days since the last update mainly because it’s been so non-stop busy that I’ve not had the time to rewrite the raw data of Anastasia’s status into prose. But after a good night’s sleep I’m feeling much more alert — I’m aware that today is not Monday; I wasn’t so sure about that yesterday — so here’s the overdue update!

On Monday Anastasia’s clinical (outwardly observable) seizures returned, but not severe. With a little sedative medication they were brought under control for a while but came back Tuesday infrequently. Tuesday night they gave her another small dose of sedative, and again today, as the seizures were coming in clusters and with any kind of stimulation, wether changing a diaper, applying some eye lubricant, or just checking her with a stethoscope or thermometer. While the seizure med she is on has mostly reduced her seizures, it has not eliminated them. Today the neurology team suggested we give her a dissolvable pill when the seizures start to cluster. It is a type of “rescue” drug, that will help calm her, much like the IV and intramuscular drug they gave her the last couple days, but without shots. There is still a chance she will need an increase or change in seizure meds, and no telling how long it will take to figure this out. This is still an area for concern and observation as we progress.

And that’s pretty much all the bad news! Her other vital stats have remained stable, even strong. Sodium: her levels dropped down to the normal range and her medications for getting that under control have been more or less settled. Oxygen: after going off of oxygen assistance Saturday she was back on it Sunday because her oxygen saturation numbers were dropping overnight into Sunday morning — though she was at the lowest level of assistance possible since she didn’t need any more. Yesterday she again come off of oxygen assistance and went through the night last night without her oxygen saturation dropping, though it has dropped some during the morning hours today… still, we’re cautiously optimistic that she might be done with breathing assistance! Eyes: for now we only have initial information after the eye doctor checked on Monday but what we know now is that Anastasia’s right eye has a coloboma, a hole in one of the parts of the eye, though we don’t know yet how much vision she has in that eye. Her left eye is another story: she has microphthalmia and a cyst which grew together, and will never be able to see anything from this eye. It’s possible she will never be able to see the beautiful face of her earthly mother — or anyone else’s for that matter — meaning her heavenly mother and her Divine Son will be the first things she may ever see… and who can pity that! Hearing: we were already certain that she could hear based on her immediate reaction Sunday afternoon to a sudden, loud sound, and she has consistently calmed down when her mom started singing to her, but we now have medical confirmation as she passed her hearing test yesterday.

Now for the really good news: while there’s still some progress that needs to be made, we’re hopeful that Anastasia might be able to go home next week! The biggest area of progress she needs to make is with oral feedings. If Anastasia — with the help of the OT training both her and mom — can get this figured out then we can skip the need for a feeding tube. If not, she will either need to stay in the hospital longer or have a feeding tube installed (possibly surgically, possibly otherwise). If there’s one specific intention for which we are praying right now it’s that Anastasia will be able to do oral feedings and not need a feeding tube at all. Obviously, that would make us very happy and allow her to come home sooner! Speaking of feeding, our little girl has been consuming only her mother’s milk since Early Monday morning — no more bagged lipids, extra fluids, or electrolytes! — and is gaining weight to boot!

Going back to Monday: one of our parish priests stopped by to give her a blessing and say some prayers for and over her. In terms of gaining Sanctifying Grace Anastasia is as topped off as she can get; since it’s looking like she will never have the use of reason then neither will she be able to gain nor will she be able to regress directly. Those of us caring for her, though, will be able to gain Grace in caring for her. Something I’ve been contemplating this past week is something I heard in a sermon once: thanks to the sin of Adam we all have to endure the sufferings of the Cross of Christ, either voluntarily in this world to our sanctification or involuntarily in the next for our punishment. In the case of Anastasia, while not due to any fault of hers, her medical condition can certainly be traced back to the first man, Adam, and her condition while being a cross for her is more of a cross for us to carry… which leads to meditations of Simon of Cyrene and how he (eventually) embraced carrying the Cross and had to be forcibly driven off when the soldiers insisted Christ carry it alone again. In terms of burdens to be assigned, Anastasia certainly represents the lighter and sweeter variety of Cross! When we first explained to Anastasia’s older siblings that their new baby sister will probably never have the use of reason and that they were going to need to help dad and mom in caring for her, their faces where understandably confused and vacillated between various states of imagining and wondering just how much work they were going to be required to do and what forms that might take. But when told that their baby sister also lacks the ability to offend God and is a guaranteed Saint — and that she certainly won’t forget who all helped her when she gets to heaven — we saw a collection of radiant smiles.

We know it’s going to be hard and the road will be long and tough traveling at times. We also know we have the support of family and friends who have been such a massive help and consolation in the past two weeks. Without you…. I honestly don’t know how we would have managed until now. I know that with your help we’ve not only gotten to today but will make it going forward, and that nothing I write can adequately thank you or express our love and gratitude.

Tired, happy, and grateful,
Daddy and Mommy

And now the best part: Photos!

Sleep time…

Snuggling with a “Lydia’s Loveys” bear:

Anastasia’s siblings surrounding their sister with love:

Full family photo!

+ JMJ +

Dear family and friends,

Anastasia has now begun her second week of life and her critical stats — heart rate, respiration, oxygen saturation — are overall stable. Yesterday she was weaned off of breathing assistance altogether but today is back on very slight assistance (0.5L O2 @ 100% — for those who understand RT-speak). Considering we thought she would be on a CPAP for a week or more we’re still thrilled with her progress.

The biggest immediate concern is the level of sodium in her blood stream. The normal/acceptable range for sodium is a measurement number in the 120s or 130s (sorry — I don’t know the endocrinology-speak for what these numbers signify). Earlier this week, after being stabilized from her seizures, she was measuring in the 150s; with pharmaceutical assistance she’s now into the high 130s. The next challenge will be seeing if she can maintain that without better living through chemistry. And speaking of chemistry, baby Anastasia is still consuming bagged electrolytes but is now feeding on mommy’s milk rather than bagged lipids via IV, so that’s an improvement. She’s also begun non-nutritive breast feeding and is demonstrating the instinct to try to latch and nurse though she still needs to make progress on this skill. And on the theme of improvements, Anastasia is no longer on a specialized, heated NICU bed but in a crib!

Prognosis: the road ahead is long and uncertain. We know Anastasia will remain at the hospital for at least one more week but whereas a week ago we were accepting God’s Will that she might not make it out of the hospital alive we are now guardedly optimistic that she will be coming home in a few weeks to live and grow with her siblings… but there are still many unknowns. Despite coming up negative for Trisomy 13, 18, and 21 on the FISH test, it’s still the belief of the NICU staff that there’s an underlying chromosomal abnormality. One clear diagnosis is Holoprosencephaly (HPE) which has, in rare cases, been observed without any other identified genetic precursors. To paraphrase the doctors: Anastasia continues to throw puzzles at the biggest brains in neonatal intensive care in the region and show them just how much they don’t know about the pinnacle of God’s material creation.

Thank you again to everyone offering prayers, meals, and babysitting assistance — there’s no way mommy or I could spend as much time with Anastasia as we have this past week without your love and help! May God bless and keep you all!

With love,
Daddy and Mommy

And now for photos!

Her best Colonel Sanders impression:

A new outfit, stylishly worn (so her ID tag & O2 sensor can be accessed):

Another new outfit — and she’s looking to see who’s there:

Anastasia is doing well — dare I say better? The doctors are still stumped as to her actual medical condition but yesterday she was switched from CPAP (continuous positive air pressure) breathing assistance to just a cannula, so that’s a big improvement. On the negative side, her sodium levels have been elevated the last couple days and she’s only shown improvement in the last six hours on that point. To quote the doctors: “She continues to throw us puzzles” so while she’s under the most sophisticated monitoring possible by the best trained professionals in neonatal intensive care they continue to find them uttering a phrase to which they are normally allergic: “I don’t know.”

Looking forward: whenever they come in there will be more detailed and extensive medical tests but it could still be *weeks* before we have an official diagnosis and explanation for Anastasia’s condition.

More photos are coming soon but that’s the update for now. Thank you again for all of the prayers — they are certainly not in vain!

+ JMJ +

 Dear family and friends,
 
As Anastasia begins her fifth day bringing smiles to our faces and hearts, we figured now is a good time to send an update. One thing that wasn’t mentioned in the last email, because we had no idea how serious or long-lasting it would be, is that she was having seizures on Monday morning, had been put on anti-seizure medication and had an EEG with about 20 electrical monitor leads attached to her head so the neurology team could monitor brain activity for seizures. After giving her medication she stabilized and over the next 24 hours only one very minor, electronically-observed, seizure happened (which had no outwardly visible manifestations). Having improved so much, the neurology team decided there was no need for the myriad sensors connected all over her head and those were removed yesterday — much to the joy of mommy who got to hold and snuggle with Anastasia again! Daddy also got to snuggle skin-to-skin with her for a while and a few visitors stopped by and got to hold her as well.
 
It’s always interesting to see just how early the personality of a baby makes itself known. Two years ago we were in the Children’s Mercy NICU (neonatal intensive care unit) with Stephen who bested all of the optimistic estimates for how quickly he would progress; from needing breathing assistance to breathing on his own, from needing a feeding tube to nursing without help. His theme seemed to be “You think it’s going to take me two days to improve? Hold my bottle…” and he’s continued to be both stubborn and physically resilient as he’s grown these past two years. With Anastasia it seems her forte is going to be stumping the experts. Her initial riddle to medical staff: “I was born with breathing trouble, have a cleft palate, and microcephaly; what’s the diagnosis?” While the doctors try to avoid terms like “absolute certainty” until tests came back, the consensus was one of the Trisomy markers. “Nope! Guess again!” said Anastasia between cooing and squeaking breaths. Every one of our daughters have some version of “Mary” in their name and we’ve applied one of the titles of Our Lady as their patronal reference; for Margaret Mary it’s “Immaculate Heart of Mary”, for Francesca it’s “Our Lady of Sorrows” (because she was born during Holy Week), and for Anastasia, because she was born during the week in which we contemplate the Paschal Mystery, we chose “Mystical Rose.” Mystical indeed… in the short time she’s been with us she’s brought a small measure of humility to the team of experts caring for her as they are continually stumped by her medical status. At the moment we have no idea when we might have clarity or definition with regard to a formal, accurate diagnosis… several tests have results pending and it could be a couple weeks before the results are in. From the neck down she is strong, healthy, and almost completely normal; the mystery is between her ears and behind her eyes. And speaking of eyes: it is such a huge consolation to us that she’s both Baptized and Confirmed and ready to be called to her Eternal Home. When I close my eyes I expect to open them to see light emanating from her and filling the room with brilliance in the same way she is filling her mother and me with a capacity for love that I didn’t know I had previously.
 
Later today Anastasia’s siblings will get to see her in-the-flesh for the first time! They’ve seen photos and videos aplenty but are eager to see their new sister for real. While they cannot come into the NICU to see her, it is possible to move Anastasia to the hospital’s chapel where visitors can see her without presenting a risk to the other babies in the medically sterilized and controlled NICU. There will also be a professional photographer who works with the hospital to capture images and memories in cases like this — free of charge! — so we should have some better-than-iPhone photos to share in the coming days.
 
I would be remiss if I didn’t thank everyone for the generous out-pouring of prayers, food, and babysitting assistance — as well as my boss and her boss (grand boss?) who told me to take care of my family and don’t worry about the office… it will be there to return to later. Given that we don’t know how long we have with Anastasia we are trying to take advantage of every moment to be with her and witness the amazing miracle of life in ways we’ve not seen or contemplated before. Thank you to EVERYONE who is helping to make that possible for us! You are all in our prayers and we owe you all a debt of gratitude that we know we can never repay; the best we can do is humbly implore God to repay you from His infinite treasury!
 
With gratitude, humility, and love,
Anastasia’s daddy and mommy
 
And the best part: photos!

Never too young or too hospitalized for a cute, new outfit!

Mom was very happy when neurology approved her holding Anastasia even while being wired up

Daddy getting to hold his little princess (after neurology removed the brain sensors)

Already trying to catch up with her siblings, working on learning her letters… which is tiring work and requires stopping for a nap.