The littlest

On Thursday I brought Marley to the endocrinologist for a follow up. Her initial appointment was over a year ago and the focus (as it has always been) is on her small size and slow growth. Now that Marley is armed with over 2 years of growth charts, her tininess is mapped out on paper. Marley has always been in the less than 1% for length and weight. As her doctors have playfully put it, "she is on her own growth curve". You can connect the over 50 dots (one for each time she has been weighed) and while at times the line plateaus, it ultimately goes up over time. Which is good. But not great.

Estimations of Marley's adult height put her at 4'7" or 4'8". And before you start exclaiming how "cute" it is to be petite- let me tell you- it's not. It's one thing to be 4'11" or maybe even 4'10" but 4'7" and looking like a child and having to wear children's clothes is not cute, or fun or neat when you are 25 years old.

Yes, the future is what I think about. I try not to because nothing could be more unclear. But the future is what you have to think about when you look at growth charts wondering where your child will fall when the chart ends at 18.

So on Thursday I spoke to the endocrinologist about the future and about Marley's small size. I like to be proactive and in Marley's case that comes down to "what are we gonna do now to make things better in the future?" The endocrinologist touched upon growth hormone and the strong likelihood that Marley lacks it. We reviewed the signs of growth hormone deficiency- delayed teeth eruption, increased adipose tissue, lack of muscle mass, shortness and delayed aging. Marley pretty hits all of these. But to start on the path of true diagnosis, she suggested we begin by doing some blood tests such as a thyroid panel and proteins that can signify growth hormone deficiency. If those hormones are abnormal we will move onto a growth hormone stimulation test. I did not ask her the details of the stimulation test because while I pride myself on being proactive, I also pride myself at taking things one step at a time. I can get lost in the "what-ifs"; that's a dangerous place to be.

So I brought Marley to the lab yesterday at Seattle Children's for the dreaded blood draw. While seeing your child get an IV in her scalp is one of the worst experiences I have ever had- blood draws are a close second. But you know what? She was a total rockstar. She didn't cry or fidget. She held perfectly still and the phlebotomist got her blood on the 1st try! What a relief!

Anyway, the endocrinologist should be calling me next week with the results and the plan.

On a side note, since you have all been asking about Marley's development- she is now cruising, pulling to stand and crawling over and around everything. She is not yet walking but I now know she will though I still don't know when. I love that she has been accomplishing so much lately I just wish I knew when she will start walking. We still don't know if she will ever talk and at this point I'd be happy if her only word was "Fuck" if she could say it. Though I think "Mama" would take my breath away every time I heard it.

Rebirth

The face that I have not updated this blogs in 2 months simply means that life has been rather uneventful.

The removal of Marley's adenoids and tonsils as well as getting ear tubes have allowed much improvement for Marley. Not only is she sleeping better, she is eating more, has more energy and is no longer sick! Since her surgery in March she has gained more than a pound and finally has gone up a size in her clothes. She is also now walking while pushing a toy walker (slowly) and crawling up stairs. She is happy all the time and now naps for 2 hours during the day. Heaven!

I am so glad she got her adenoids and tonsils removed. It is the best decision that Jason and I have made since she was born.

Since the surgery we have been back to cardiology and her coarctation and pulmonary stenosis are unchanged. For now, we will follow up with them every 6 months- but there are no foreseeable plans for another cardiac cath anytime soon. We went to Ortho last week who is monitoring her dysplastic hip, leg length discrepancy and abnormal turning of her feet. The doctor does recommend braces to help stabilize her legs and feet but otherwise does not need us to follow up with him for another 18 months. 18 MONTHS! Crazy! At that time he will evaluate her hip issues for possible surgery.

And we recently met with a new geneticist who specializes in skin disorders. She could not offer us a diagnosis but said she would try to find other kids who have similar characteristics as Marley. There also may be more specialized genetic tests she could do. Her expectations (as well as ours) are low that she will find out what syndrome Marley has. But geneticists are problem solvers and there is nothing they love more that seeing a kid with a configuration of characteristics that they have never seen before. They love the challenge. Personally, I am glad they are so interested in Marley- but diagnosis or not- Marley will always just be Marley.

I continue to mourn the fact that she won't be like every other kid while at the same very intrigued by who she is. God, she is weird. She is just one crazy, little girl. I think one day I'll have to shave her hair into a mohawk, dye it green and purple and dress her in the funkiest outfits- just so her appearance can match her personality. I think she will surprise me and all of us by the things she accomplishes and overall the person she becomes. I wish I had an inkling of what the future holds for her.

A clearer future

We are back home safe and sound after Marley's surgery on Tuesday, March 9th. Marley had her tonsils and adenoids removed and also had ear tubes inserted.

For awhile I doubted that the surgery would even take place. It took 3 months to schedule the surgery but 1 week beforehand, Marley came down with a cold. If her nasal congestion didn't clear up by surgery day, the procedure risked being cancelled. I pumped Marley full of fluid, antibiotics and nebulizer treatments and by Tuesday, she was almost better.

Anesthesia cleared her for surgery though did mention that Marley didn't have the "clearest lungs she had ever heard". I got to walk her back to the OR and be with her as she slipped into sleep. 40 minutes later she was out of surgery and transferred to the PACU. She evidently had some breathing issues in the PACU and her O2 sats dropped a few times. Coming out of anesthesia was rough and she has to be sedated a few times with Fentanyl. We were not allowed to see her at all during this time and the PACU nurses were very vague about her status. I'm guessing because they didn't want us to freak out. She was in the PACU for 3 hours and we were not able to see her until she arrived in the ICU.

Once we reached her bedside I got the full effect of how miserable she was. She certainly was "out of it" and she gave me one of the most pissed off looks I have ever received. Snot was everywhere and she was covered in wires and tubing. I wish I could've taken some pics but my phone had to be turned off the whole time we were at her bedside.

Tuesday was a very long day. Marley's pain was well managed by toradol and morphine and we introduced fluids very slowly. First water followed by soy milk. She slept well that night and I slept surprisingly well at her bedside. Marley was making a strong recovery and the ICU staffed hinted often that we would be "kicked out" to the general surgical floor when her bed was needed by a more critical patient. That is always good news to hear- that you have the most stable child in the ICU. But it also madw me sad for all the other babies. In the bed next to Marley was a baby who had brain or skull surgery. She cried a lot until her parents arrived and I wish I could've picked her up to comfort her in the meantime.

Wednesday morning we were discharged to go home. Home recovery has shown to be a little rougher than expected. Marley has gone from being happy and goofy one minute to being whiny and clingy the next. We have to stay on top of her pain management by alternating Tylenol and Motrin around the clock. Only today has she been interested in her sippy cup and I feel like I am constant battle with all the thick, yellow snot that pours forth from her nose. Yesterday, she spiked a low-grade fever and was absolutely miserable. The snot and fever are normal side effects of her surgery but suck nonetheless.

I have yet to appreciate the absence of Marley's adenoids and tonsils. I assume once recovery is complete she will overall be eating better, growing better and developing better than she use to. I feel like for once, I actually have something to look forward to.

Breathing Deep

And now we are battling RSV. I hoped to tell you that Marley's nasal congestion & cough was going away but that is not the case. Starting over the weekend the snot and the coughing really ramped up. We were up every few hours throughout the night to comfort Marley as she attempted to cough up one of her lungs. The coughing turned into gagging and dry heaving (now that's a weird thing to see your kid do) as well as daily vomiting.

On Wednesday I brought her to the pediatrician's office and she was diagnosed with RSV and an ear infection. We did an albuterol nebulizer treatment there and continued the treatments once we were home. Unfortunately, the albuterol didn't agree with Marley and she became irritable, hyper, tachycardic and inconsolable. I immediately discontinued the albuterol and thankfully Marley's coughing and congestion has slightly become better.

In other recent news, Marley got glasses! I will post a pic soon but they are great! She tolerates them really well and I've figured out how to attach them to her hearing aids so that she can't pull out and lose her aids. Her world has opened a lot and she is so much more alert and aware of the things around her.

We have almost transferred all of Marley's therapy to Kindering. We've got PT going and soon will start feeding therapy and work with an educator. We still have our hearing/speech therapist from Seattle Children's Hospital and we are finishing up the eye gaze study that we are doing with University of Washington.

Next up is Marley's surgery on March 9th to get her tonsils, adenoids and possibly ear tubes. I can actually say that I am looking forward to this surgery because I really believe that it will improve Marley's health. I'm hoping she'll swallow better, breath better, sleep better, eat better, get sick less often, gain weight and reduce her ear infections. I don't know, is that too much to ask?

Looking a little brighter

I stayed home from work today to take Marley to the doctor.

After another very long night of coughing, wheezing and crying Marley finally fell asleep at 3:30am. She slept until 8am. I gave her tylenol round the clock as well as sips as water and she seems a little better today.

She woke up her eyes all red and puffy, snot and drool everywhere. Diarrhea. She drank some milk but is overall very lethargic today (probably because she is not eating any food). She also has one of the meanest diaper rash/yeast infection I have even seen.

At the doctor's office the official weigh in showed that she hasn't gained any weight in 2 months but she hasn't lost any weight either. Fortunately, Marley's pediatrician is not dwelling on her lack of weight gain like I do but she does want us to see a developmental nutritionist as soon as possible. She ordered a swallow study and gave us a prescription for her high-calorie soy drink so that insurance will cover it. She also prescribed antibiotic nasal drops to alleviate the nasal congestion.

I sat with Marley today and let her nibble on sour patch kids and her nuk brush, let her play with yogurt melts and puffs and added lactobacillus to her soy drink to drink to lessen her diarrhea. I hoping to get the diarrhea in control very soon though the pediatrician said it can take up to 2 weeks to resolve.

Perhaps I am feeling better too. I don't know. I'm am exhausted from lack of sleep and my normally low level of stress has been ramped up a bit in the last few days but I am coping and I know that this too will pass.

Hunger Strike

I can't believe it has come to this, but Marley has stopped eating food.

And I am miserable.

At first Marley just started rejecting purees. But over this weekend not only will she not eat purees but she won't swallow any food. Any food that reaches the back of her mouth causes her to gag and choke violently. She will not eat, I assume, because she is afraid of choking.

My only saving grace is that she is still drinking milk from her sippy cup. But it is not nearly enough to make up for the lost calories she was getting from food.

So she isn't gaining weight and I find out tomorrow if she is actually losing weight. And losing weight would be a disaster.

On top of all that she was just starting to get better from 5 weeks of a viral congestion and ear infection. Now she is sick all over again accompanied by diarrhea and chest congestion.

Last night she barely slept and either did I.

I spoke with her feeding therapist and pediatrician today and I am hoping to find some answers and more importantly some solutions. I expect Marley will be having a swallow study by the end of the week to rule out any physical conditions for her gagging and choking. But I am not feeling very optimistic that she is going to get better anytime soon.

I am trying so hard to get through this without stressing out too much but I am feeling very quickly that I am reaching my limit.

Deep breath...

Medical Roundup

Well the results of the sedated BAER, MRI and CT scan are in!

1. The BAER still shows that Marley has mild to moderate sensorineural hearing loss. The good news is that there is some improvement in her left ear which I attribute to a more accurate test than the one she had done at 4 months of age. Most importantly, it shows that her hearing hasn't gotten worse.
2. MRI of her brain and spine normal. The delayed myelination that was present when she was a newborn is no longer there. She has normal myelination for her age. There is a small amount of fluid collection in her posterior fossa but it is not believed to be clinically significant. This is of course good news though does not explain why she continues to be developmentally delayed and why she becomes more and more delayed the older she gets.
3. CT of her inner ears and sinuses normal. So most likely the cause of her constant congestion is enlarged tonsils and adenoids.

Overall good news and it is such a relief to be done with those tests (at least for a year)!

I spoke with Marley's geneticist about her MRI and we discussed if the findings are consistent with a diagnosis of DOOR syndrome (her original diagnosis). Dr. Merritt didn't feel that it either excluded or supported a diagnosis of DOOR though the fact that her condition is not progressive may be the strongest evidence against DOOR. So if not DOOR, what? Well we reviewed that her karyotype is normal and that her microassay did not pick up any deletions, inversions, duplications or translocations. And while there are limits to each test, Dr. Merritt is pretty confident that Marley's condition is the result of one little mutation on one of the over 100,000 genes she has. Which one it is- well we may never know. So that is her prognosis in a nutshell- unknown.

I also met with Marley's Otolarynologist Dr. Sie about Marley's CT scan. We discussed if and when to have her tonsils and adenoids removed and decided that we would wait until I met with a Neurodevelopmentalist to discuss their recommendations based on the fact that she has so many medical conditions. I want to make sure before I submit her to more anesthesia and an indefinite hospital stay, that the procedure will actually improve her breathing, development and hopefully weight gain!

What else? Oh, we met with Marley's Orthopedist Dr. White who is recommending braces for her feet (her right foot turns out). Her left hip is still dysplastic so we can anticipate surgery when she is 3 years old to correct the anomaly. Her right leg is slightly longer than her left leg (well Dr. White says that her left leg is under developed) so eventually we may have to consider surgery to correct the discrepancy. But that won't happen until she is 9 or 10 and the discrepancy shouldn't interfere with her ability to walk.

On top of all that, Marley's Opthamologist Dr. Cadera has prescribed glasses for Marley to treat her astigmatism and strengthen the vision in her left eye. The patching is helping with her strabismus so we must keep doing that daily but the glasses will be utilized over the patch and worn as long as she can tolerate them which is probably not very long considering that she already tries to constantly pull off her hearing aids.

So there's the update. As soon as we get the the leg braces and glasses I will sure be sure to post a pic. I might even dress her in an ugly holiday sweater for good geek effect. My poor little baby will never forgive me for the humiliation!