The Good News at Last

It has been a long road for our family, wondering what might be the root cause of Aurelia's many troubles. Now, after copious amounts of tests, and scans, and images, we know. Aurelia has been diagnosed with a rare genetic disorder called, Osteopathia Striata with Cranial Sclerosis, or OSCS.

We came to this diagnosis after having our, and Aurelia's, genomes completely sequenced. This, as you can imagine, was a pricey series of tests, and required persistent pressure on our insurance company and other creative alternatives, such as trying to find studies associated with congenital heart defects and kidneys without a genetic diagnosis.

So how did we get to this diagnosis? Well, at first we thought Aurelia might have a genetic disorder called Rubinstein-Taybi Syndrome. She had many of the physical characteristics associated with this syndrome: broad thumbs and broad first toes, some cognitive delay, poor coordination, small height and bone growth, broad nose, widely spaced eyes, etc.. When we tested for this syndrome (which we did twice), we found no associated genetic mutations. We had really no other direction to go unless we could have her, and our, entire genomes sequenced and compared.

We wanted to look for mutations between the three of us and any other genetic markers that might have resulted in so many of Aurelia's challenges. We were perplexed, to be honest, because our doctor, Dr. Elaine Zackai, is not just the director of clinical genetics at CHOP, but one of the country's leading genetic experts on children. She is essentially one of the pioneers of research in these fields, and even she was stumped.

This past Tuesday we finally got our results. Aurelia has a mutation on one X chromosome in her AMER1 gene. Essentially, a base pair is a bit messed up, with a deletion and an A base inserted where it shouldn't be found. The technical term for the mutation is heterozygous for the de novo c.1043_1044delGCinsA mutation in the AMER1 gene.

This genetic mutation is not something Jillian nor I carry, but something that was unique to either the sperm or egg that conceived her. My guess is that I ate too much paste as a kid. Seriously though, the result for Aurelia is a diagnosis of Osteopathia Striata with Cranial Stenosis. What does this mean? Well, it means, for one, that Aurelia is amazingly lucky.

While this disorder is rare, her case is particularly mild because only one of her X chromosomes carries the mutation. This is a blessing, because if both X chromosomes carried the mutation she would have a much harder life ahead of her and the outcome would be, in some ways, possibly crippling. Boys or girls who carry two mutations suffer far more than Aurelia has with the resulting problems, in some cases including increased mortality, so we are tremendously thankful with the outcome.

We were astounded to discover that nearly every issue Aurelia suffers with is directly tied to this disorder. I will list for you the many symptoms Aurelia has inherited due to this disease:

• Shorter stature
• Macrocephaly (a larger head - for someone so small she's in the 70% in head size)
• Micrognathia (undersized jaw/larger tongue)
• Facial palsy (her mild right side paralysis was originally attributed to her stroke in-utero, but now we aren't so sure)
• Small ears
• Conductive hearing loss
• Hypertelorism (abnormally large distance between the eyes)
• Broad nasal bridge
• Cleft palate
• Pierre Robin Sequence (smaller mouth, tongue placed further back, and a cleft palate all together)
• Crowded teeth
• HLHS (later corrected via amazingly lucky surgery), VSDs, (holes in the heart), aortic stenosis, her wonky mitral valve
• Apnea
• Tracheomalacia (her airway collapsing)
• Intestinal malrotation with a webbed duodenum (basically your intestines are all tangled and in her case also blocked off from her stomach)
• Reflux
• Multicystic kidney (one kidney filled with cysts and dies off)
• Osteopathia striata (linear striations of long bones - actual lines in her bones). We saw this in her most recent x-rays for the first time. Amazing to see. Here's an example of what this looks like.
• Selerotic cranial base (essentially, a thicker skull at the base of the head near the neck, also visible in her latest x-rays)
• Duplicate phalange in her left hand (essentially she has two tips to her left index finger). See an example of what I mean here
• Spatulate distal phalanges (thick or broad ends of her fingers)
• Nasal speech
• Speech delay (moderate)

Pretty much the only things that she suffers from that we don't see connected to this are her malformed uterus, her thyroid problems, her pituitary gland cyst, and her Cyclical Vomiting Syndrome. Does this mean that they aren't connected to anything? Not necessarily. This genetic disorder is so rare (there isn't even a wikipedia entry - yes, it's THAT rare) that not much is known about its impacts on the body.

To help you understand how rare this is, and how hard it is to diagnose, our doctor is one of the best researchers in the country on the disorder. She's published case studies and papers on the disease, but Aurelia's presentation is mild which made it harder to see and diagnose, especially with so many prominent physical connections to Rubinstein-Taybi visible. 

The question everyone always asks is, "so is there any other treatment or cure?" Sadly, no. There is no cure, and there is no treatment. I had been hoping for a silver bullet, of course, something that we were missing, something that could be changed or done to "cure" whatever has been hurting Aurelia, but with its genetic origins understood we know no panacea exists. What is wonderful about this diagnosis, and I can't stress this enough, is that we now know what to look for, what to be aware of, and what might happen to Aurelia in the future. 

Long term the prognosis for Aurelia is wonderful. She has avoided so many of the major issues surrounding OSCS, such as seizures, mental retardation, missing bones, scoliosis, serious skull malformation, higher morbidity/mortality rates, anal stenosis, atrial defects, laryngeal web, and it goes on and on and on. To see the many things children with two affected chromosomes, see http://omim.org/clinicalSynopsis/300373. 

Truly, we are so lucky to have a mild form of this prognosis discovered by one of the best genetic teams in the country. This is great news for Aurelia should she ever decide to have children, as well. If she has a child with the disorder (assuming her partner does not carry the mutation), the results will also be mild. It is even possible for her to ensure that the conceived child will not have the mutated X chromosome if she chooses to have her eggs harvested. And, of course, who knows what the medicine of the future will bring! 

So, all in all, we got great news. We are doing everything we can for Aurelia given her conditions. We have successful treatment plans in place for everything but her CVS, which is a hit or miss syndrome as it is for so many kids. The latest news on that shows us her troubles are not at all allergy related and that her digestion is perfectly normal. I wonder, and we will be looking at this from a neurological perspective, if she *is* experiencing what equates to an intestinal seizure as a result of the OSCS, as opposed to a traditional seizure or migraine, which some affected children suffer. 

Our next steps include making sure all her specialists are aware of this new diagnosis, adjusting any care plans in place, and getting Aurelia re-evaluated for neurological and cognitive impact as she approaches kindergarten. A new evaluation will give us a good benchmark to work with as she ages and we watch for any other cognitive and neurological impacts of OSCS. 

Thank you, as always, to everyone for their support and prayers. We are lucky to have you.

It's Been A While

Aurelia continues to grow and thrive and is doing fantastically well, but I am getting ahead of myself. Our last update was in July, just after her heart surgery. She recovered well and we were home a week after the surgery, though there were a few difficulites along the way. She is a quick healer though. We were not supposed to give her belly time for a full two weeks after her surgery, but that didn't stop her from giving herself belly time. Prior to the surgery, she had been working on crawling (a very slow form of it that includes lots of rolling), and she wasn't willing to let a little thing like open heart surgery get in the way of her practice! The doctors told us that she would self-regulate and if it hurt her to be on her belly, she wouldn't do it. Well, either she's one tough cookie - or it really didn't hurt. She spent as much time as possible on her belly!

We were relieved that we did not have to turn the distractors in her jaw any more. That finished just prior to her heart surgery. Now the plan was to wait and allow her jawbone to heal. We returned to CHOP in late August for a follow-up sleep study and I was happy that we were able to go home the next day (quite different than the previous one that ended with a 2-week stay in the hospital!). We later got the results of the sleep study that still showed mild-moderate sleep apnea, but it was GREATLY improved. Which means that the mandibular distractors worked and that the pain and frustration of moving her jaw was worth it. There was a chance that she would have gone through all of that and it wouldn't have worked. We were ecstatic to hear that the procedure was a success! Aurelia was scheduled to get the distractors taken out in September, just 2 days before her first birthday.

While we waited for that surgery date, she continued with her weekly therapies. She has a Physical Therapist (Miss Marjorie) and a Developmental Therapist (Miss Lynne), who she was been working with since February. In July, we added Occupational Therapy (with Miss Judi), which she also gets weekly. She makes improvements daily. In July, while she was in the hospital, she began sitting up, unassisted. And now, just a couple of months later, she is army crawling and is able to get anywhere that she wants to go. Over the last week or so, she began to get herself into a sitting position from a laying position, all by herself! Aurelia really is one determined little girl, which is wonderful to see such fierce strength and will. Madison is truly her biggest cheerleader ~ she jumps and shouts out "you did it Aurelia! I'm so proud of you!" each time that Aurelia sits up!

Another addition to Aurelia's daily routine has been the introduction to FOOD. Yes, actual baby food! In August, she had an appointment with the feeding team and while they are cautious, they are allowing us to give Aurelia an ounce of stage-2 baby food one time a day. The fear is that she is a risk for aspiration, so we have to be very careful. Also, because her core isn't that strong yet, she tires out very quickly. An ounce of food isn't a whole lot, but it is about all that she can handle at this point in time. The introduction of food has been a slow one. Aurelia had been grabbing at our plates/forks/anything left close by for months. And she brings everything to her mouth, but as we discovered when we first gave her baby food, she didn't quite know what to do with the food when she got it into her mouth. Like any baby getting their first tastes, she spit most of it out. She is extremely enthusiastic though and grabs the spoon from us with almost every bite. From the first time that I gave her some applesauce, she has tried to feed herself. And I'm happy to say that now, nearly 3 1/2 months later, most of the food actually gets swallowed. AND, she's been enjoying little star puffs, so she is slowly getting the idea of how food and her mouth are supposed to work. We will reevaluate all of this once she gets her cleft palate repaired. We will likely have to start all over because she'll have a whole new mouth, which will work a bit differently. In the meantime, we soldier on with trying different tastes and different textures. In fact, we just added a FOURTH weekly therapy. She will now be seeing Miss Cindy, a Speech Therapist, on a weekly basis too. It is great to have so many services available to us! In PA, she gets all of these therapies at our house (until age 3), which is so covenient. I try to be home for all of them, but it is great that she can still have therapy at home when I can't be there (it is good for our new nanny, Kaitlyn, to see what goes on in the therapies too).

On to the surgeries... As I mentioned above, Aurelia was supposed to get the distractors out on September 21st. But, our little girl caught a cold and it was decided to postpone the surgery. No need to put any additional risks on the surgery. We had a to wait a full month, but on October 24th, the distractors FINALLY came out! Aurelia healed quickly and we were only in the hospital for one night. What a miracle worker she is!

And now we are anticipating her FINAL surgery, cleft palate repair, for next week, November 9th. This will be surgery #12 and we are so excited that it will soon be over. Again, it should be a one night hospital stay. Some kids stay longer, but since Aurelia is primarilly tube-fed, we don't have to worry about getting her back on an eating schedule. I'm sure that her mouth will be sore. In fact, one of our therapists noticed this week that Aurelia's tongue seems to be tied, so there may be an additional part to her surgery. I called her plastic surgeon, a really great guy named Dr. Jesse Taylor, and he'll take a look at her when we come in for the surgery and decide whether or not he can do that repair at that time too. I still can't believe that none of us noticed her tongue before because it is now so obvious to me. Either way, we are very hopeful that once her cleft is repaired, we'll be able to increase her oral feedings.

I hope to write more next week and try to keep this blog a bit more active with entries. I will also add some photos later, but I really wanted to get you caught up on what has been happening since July. As I said, our girl is growing and thriving and doing really well. We are so proud of the work that she is doing and with how far she has come.

Needed a break

Hi folks. Sorry for the delay in posting these last few days, but I needed a break from writing. It's been a stressful day or two and I just didn't have the wherewithal to sit down at the computer and type something out. Aurelia is stable and in a similar place to where she was a few days ago. She still is terribly gassy, has needed medicine to help move her bowels, and is still watched closely for the amount she urinates. Her fevers spiked a few nights in a row, but last night it was not quite so dramatic a rise.

In terms of pain Aurelia is on oxycodone and tylenol, if she needs the additional relief. Sleep has been difficult for her, in part because of the gas, but also because she is so nosy. Our girl has to inspect everything going on in and everyone entering the pod. We hope to be out of intensive care soon so we have a shot at a private room. Her recovery should go well there.

Aurelia's breathing is still assisted by 1/4 liter of oxygen, but that is what she came in on, and she is a terribly difficult ween. We hope to start weening her off morphine and diazepam again soon, and maybe her oxygen, too. She has to relax, more, though, and breathe deeply for that to happen.

Not much to report other than that. Jillian went home for a night and returned with my in-laws and Madison as we approach this next phase in the step-down unit. I'll be returning to Gettysburg for a few days to be with the cats tomorrow morning sometime, I think. Well, thanks as always for all your support and prayers. Hope you are all well!

PS - I fixed the comments - everyone should be able to comment now.

THUNK...OW!!!!

That's right, folks, that's the sound I make when the other shoe hits me square in the noggin. So far the other shoe appears to be something light, a ballet slipper perhaps, as opposed to a steel-toed work boot, but this is still a bit of a disheartening morning for me.

After a lovely afternoon visit yesterday from Grandma and Grandpa Dittrich, Aurelia endured a difficult evening. Her belly swelled substantially, she had trouble peeing, pooping, and she became magnificently gassy. Her pain medications failed to alleviate much discomfort and sleep eluded her for much of the night. With two fever spikes up to 101.8 we guaranteed our stay here in the CICU for at least another day.

The team took a urine analysis, blood analysis, and cultures, looking for infections that might be lurking somewhere unseen. This morning the urine analysis came back clean and Aurelia's white blood cell count is reasonable. Thankfully her fever is down after some ibuprofen and she moved her bowels and peed substantially a little while ago.

Currently, our best guess is that her intestinal track failed to start up to full speed after her surgery yesterday (remember that comment I made about her kidney seeming to have started up?), which meant that she had limited function, but not enough to tolerate full feeds. So all day yesterday, when we ran full feeds, Aurelia's body failed to fully process her food. This resulted in the gas, constipation, lack of urine, and painful belly swelling. To help her the team stopped last night's overnight feed and we will start a Pedialite feed later today to see if things are back up and running. We will keep you all posted.

Oh good news! I forgot to mention that pulmonary no longer believes Aurelia needs her inhalers. Yay!!!!

Just a little fluid

Good news continues unabated this morning as Aurelia's improvement continues. All of her tubes and wires, other than the IV, are out and gone, her normal feeds have resumed, other than morphine and diazepam she is off pain medication, and her breathing has not gotten any worse. Our only concern thus far is a stubborn bit of fluid in her lungs. We have started chest PT and increased her diuretics in an attempt to drain her lungs more so we can ween her off oxygen.

A liberal estimate has us leaving the intensive care unit today and maybe moving into the step-down unit tomorrow. I cannot believe Aurelia is doing so well! I don't want to jinx all this progress, but I confess to feeling a bit of disbelief regarding her progress. Never has anything like this been so smooth for us, so I keep looking up for the proverbial shoe, or anvil, or whatever, to drop. I sincerely hope it doesn't, but have a hard time believing it won't!

We have a few questions for doctors on rounds today, when they make their way to Aurelia:
1. How long do we have to do wound care behind her ears?
2. Now that her tracheomalacia resolved itself, do we still need her inhalers?
3. Can we get a swallow study while we are here?
4. Can audiology follow up with Aurelia while she is here, too?

We also want to try and contact our home care company contact here and get a letter of medical necessity to help our application for medical assistance. We want to try and obtain a full time home care nurse for Aurelia and see if we qualify for medical assistance insurance, in the event our insurance starts to play hardball with CHOP and us. We received our first rejection for care a few weeks ago, so we are thinking the fights are beginning as she vaults way past the multi-million dollar baby level. We estimate her care to be at or beyond $2,000,000 since her birth in September. Combine that with 119 days of leave without pay for Jillian and we're thinking medical assistance is something we definitely need to have! We'll keep you all posted!

A quiet afternoon

All good news from CHOP this evening, even as chaos reigns in the pods around us. With critical emergencies proliferating in the CICU Aurelia bucked the trend, enjoying a quiet afternoon of rest and healing. Her O2 saturation is wonderful at 2 liters of oxygen, she is not maxed out on her pain medication in case she needs more, her color is good and her kidney is operating wonderfully.

That last bit, about her kidney, had us particularly concerned. When you have your heart stopped and you go on heart-lung bypass there is a risk that your other organs will shut down and have a tough time starting back up again when your heart begins beating again on its own. Given that Aurelia only has one working kidney, if that doesn't fire up and work well from the get-go then she runs a risk of fluid build up and that can be dangerous.

Regardless, Aurelia is having great fluid discharge through her foley catheter and the only fluid she's needed (besides nutrients) is some potassium, to replenish what's being lost due to her lasix. Her blood gasses have been great all afternoon, drainage from her chest tube is within acceptable limits, and even her wound care went well around her distractors. All in all, it has been a super afternoon. Thank you to everyone for all your support! Jillian and I feel tremendously blessed to have such a strong and dedicated support network of friends, family, and colleagues.

She's through!

We just received word that Aurelia has successfully underwent surgery. Dr. Spray repaired both her holes and augmented her pulmonary artery. He says that although her mitral valve appears slightly misshapen there is no leaking or backflush of blood across the valve, which is good, and it appears that whatever muscle bundles might have been in the way of her VSD repair have been cut away. Apparently, Aurelia's heart has become a little larger to compensate for the resistance placed against blood flow due to the PA band she received in October. As a result, the increase muscle tissue in her heart might have obstructed those areas the surgeons needed to access when repairing the VSDs.

The echo cardiogram taken immediately after surgery shows no leaking across the two chambers of the heart and no leaking across the valve, as I mentioned above. It also appears that her heart is successfully handling the full blood flow into and out of the lungs, and through her body. Whether or not her heart could handle pumping by itself is a concern, primarily due to the fact that her left ventricle sits right on the border line of a functioning/non-functioning ventricle (which is based on its capacity and ability to maintain adequate pressures and flow).

Currently, Aurelia is off the heart lung machine, being extubated, and undergoing an x-ray. We will be watching her carefully over the next day or two for effusion, or increased fluid around the heart, and any change in her heart's ability to handle blood flow to the lungs and body. Again, due to her heart's increased musculature the trick is going to be getting her heart to relax substantially, so that it can fill to complete capacity, and subsequently pump blood to and from the lungs to complete capacity. In the past her heart built up its strength and did not pump to capacity because of the restrictive PA band. Hopefully, though, given the medicine she is on we will see improvements over the next few days as her heart begins to fully manage the appropriate blood flow of her body.

Thank you to everyone for their prayers and well-wishes. These next 24 hours will be crucial in Aurelia's recovery, so we will keep you informed. For now Aurelia is out of the dark heart of the forest and onto the path, but the way is steep and overgrown, and fraught with briers and other dangers, so keep those prayers and positive thoughts coming.