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!

Such a little trooper

9 month after our geneticist ordered a repeat MRI of Marley's brain, and after 4 cancellations- I can now say the test has finally been completed!

We took Marley to Seattle Children's yesterday morning for a sedated BAER (hearng test, MRI of her brain and spine, and CT scan). Jason and I were with her as she got the gas to fall asleep and then we waited almost 6 hours before we could see her again. The good news is that her hearing test showed a slight improvement in her hearing which means she probably doesn't have DOOR syndrome- which is progressive by nature. So while she probably doesn't have DOOR we aren't any closer to knowing what she does have.

The bad news is that she had a minor complication in surgery. She was intubated for the procedures and when it was removed it caused swelling of her throat. After some epinephrine, suction and a nebulizer treatment she was doing much better. But she had enough stridor that the doctors recommended she be admitted and spend the night. Ugh!

At first we were put in a shared room and when Marley starting her sniffling and snorting (signs of her nonstop nasal congestion) we were promptly transferred to a private room and put in isolation. Sweet! A dose of dexamethasone later she was faring quite well so the hospitalist agreed to discharge Marley home at 11pm.

Oh it was so great to go home! She slept great, we slept ok. I think I was up every hour just to check on her. Her throat is sore today and she is a little wheezy on inspiration but definitely improving.

I'll be calling the ENT and geneticist this week for the results of her other tests. I don't expect anything surprising with the results. I'm just so glad that we don't need to repeat them for at least another year!

Who's this big girl?

Some exciting news- Marley continues to grow!

On Tuesday I took Marley to her pediatrician for a weight check. Perhaps it was all my wishful thinking, or your prayers or all the greek yogurt I force down her throat- but Marley has gained almost a pound and grown almost an inch in just 6 weeks!!!

Her official stats are 17lbs 15ozs and 27 inches. I'm so excited I'm going to go buy a convertible car seat to celebrate! Though she is still in the less than 1st percentile she is growing!

Finally, some good news!

Marley also got her seasonal flu shot. We also saw her cardiologist this morning for a repeat echo and follow up. Her pulmonary stenosis and aorta coarctation are still the same but she will most likely need another cardiac catherization sometime next year. This will probably happen at least yearly until she gets a stent placed when she is around 4 years old.

I also have all of her other doctor visits and procedures scheduled through the end of the year- Neurology, Orthopedics, hand surgeon, MRI, sedated hearing test, CT scan, ENT, Neurodevelopment and weekly OT, PT and communication therapy.

Pretty Pink Cheeks

Don't you just love her little pilot cap? We bought upon the suggestion of our audiologist who thought it would be hamper Marley's ability to pull off her hearing aids and plop them into her mouth. Marley has mastered the skill of pulling out her hearing aids so well- even if they are attached to her clips. We either have to have a very watchful eye or throw the pilot cap on. Fortunately, she doesn't seem to mind. So what do we do when she figures out how to take off the cap?

The saga of the sleep apnea and snoring has been temporarily resolved. A 2 week course of antibiotics has cleared up her congestion greatly though it hasn't been eliminated. But no more supplemental oxygen, no pulse ox, and most importantly- no surgery. Her next procedure will be Friday, November 13th (yup, you read that right) for her sedated hearing test, MRI and CT scan. I'm sure that the CT scan will reveal that her adenoids are enlarged and I'm sure that at some point in the next year, she'll have her tonsils and adenoids removed- but for now it can be avoided.

So yes, I chose for my child to have anesthesia on Friday the 13th because I figured it would be a light day in the OR at Children's Hospital as many parents are way more superstitious than I am. Hopefully, things will go more smoothly than they have in the past.

On a bright note, Marley has been accepted into a University of Washington study on eye communication in toddlers with developmental delays. She has been randomized into the treatment group and will get 16 weeks of treatment. And it's all free!

Sadly, Marley has not grown in the last 4 months. While she is height/weight proportional her head is not growing which means her brain is not growing. I feel like I feed her so much and just can't understand why she doesn't grow. Ah, it's probably that darn unknown genetic syndrome. But it is infinitely frustrating! Our pediatrician has mentioned Marley getting a G-tube which means she would get feedings at night through a hole in her stomach. I am not thrilled and have not agreed to that plan. I have so many misgivings about G-tubes- most importantly, it's just one more thing that means that my kid is not normal.

I know Marley is not normal, typical, average- she never will be. But why the fuck do I have to subject her to a surgery and a way of life that completely sets her apart from her peers? I wish I knew just 1 other mom who understood what I was going through and the hard choices I have to make. I just wish there was one other mom out there who also had to face everyday with the unknown.

Okay, enough of that. My intention is to at least end each post with something positive. Let's see...Oh, Marley is getting 3 new teeth...which means...she can eat more, she's developing and most importantly- we don't have to see a pediatric dentist to figure why she hasn't gotten in almost all her teeth yet. Yay!!!

Really lame update

So Marley's health saga continues. Marley has always been a congested baby. She drools almost constantly and this whole summer I have had to keep a rag handy to wipe the ever-present stream of snot dripping from her nostrils. And with congestion comes snoring. Big, loud, keep your parents awake snoring.

About 3 weeks ago the snot production stepped up a notch and the snoring became deafening. And then came the apnea. Apnea simply means an absence of breathing. And that's what Marley does. At first in only lasted a few seconds, then the periods of apnea became longer. 5 seconds, 10 seconds- followed by a gasp and often a cough. Long enough for me to lie in my bed listening, counting and praying that she would just take a fucking breath!

I made an appointment with our pediatrician but could only get fit in with one of the residents, Dr. Radesky. Ah residents! Bless their hearts. So young, so eager to please. She was able to get Marley in for a sleep study within a week, when the next available appointment wasn't until January. She called me after hours and even gave me her cell phone number.

On September 30th, Marley and I arrived at the sleep center at 7pm for her sleep study. I was dreading this test, and rightly so. Poor baby was hooked up to so many wires, had a nasal cannula stuffed up her nose, and had her head wrapped in layers of gauze so she wouldn't pull off the electrodes stuck on her head. How could anyone sleep that way?

After 2 attempts to rock her to sleep I finally had to just let her cry it out. She kept rubbing the nasal cannula out of her nose so the sleep tech had to keep coming back to pop it back in which woke her up, made her cry and made for one long, very miserable night.

The next day, Dr. Kifle the sleep specialist called to tell me that Marley failed the study big time. She recommended that we start her on oxygen at night and get into see her ENT, Dr. Sie ASAP. After much prodding and pushing on my part and on the part of our pediatrician, Dr. McPhillips, we can't get in until September 14th. Fortunately, it seems that she will have surgery soon after to remove her tonsils, adenoids and have a broncoscope to evaluate her trachea.

Hopefully, we can also coordinate the MRI and hearing test as well so that she won't have to be sedated again 2 months from now. In the meantime, we've got blow-by oxygen directed at Marley's face while she sleeps, a cool-mist humidifier pumping out some pretty cold air, and a pulse oximeter strapped to her foot to monitor her O2 levels while she sleeps. For the most part, her O2 sats stay in the 90s though they do occasionally slip into the high 70s. A quick look at Marley's room may remind some of a hospital NICU but we are adjusting to all the equipment- even the 75lb O2 tank sitting in our bedroom.

I hate that she has to have another surgery. This will be the 3rd one in a year. Every time I think we are safe- that nothing else can pop up, the rug gets pulled from under me and I feel so defeated. I'm hoping that removing her tonsils and adenoids resolve her snoring and apnea but if it doesn't then what? I'm not ready to explore that possibility.

Marley the pirate

Last week we met with a wonderful opthamologist, Dr. Cadera who recommended that Marley start wearing a patch over her right eye 2 hours a day to strengthen the vision in her left eye. While we're pretty sure Marley has decent vision, but she is clearly right-eye dominant due to the coloboma in her left eye. By patching we can ensure that she retains vision in her weaker, left eye. So far she has been tolerating the patch rather well. If I can keep her distracted she whines much less.

Dr. Cadera is also confident that Marley will need glasses to treat her strabismus. The patch will strengthen her eyesight; glasses while straighten out her eyes. He predicts she will get glasses within the next 6 months. How long she will need them depends on how long it takes for her eyes to straighten.

I find glasses awfully adorable though I can't imagine how we will manage hearing aids and glasses. I have promised Jason that he can pick out the glasses, something in his opinion "not too girly". I think he finds Marley's pink and purple hearing aids a bit too much.

Today I took Marley to a nutritionist. She has unfortunately lost 1/2 lb though she has gotten slightly taller. At 17 months her body is very slowly morphing into that of a toddlers though she still can't crawl or walk. Strangers still guess her age at 6 months. Sigh.

But OT and PT are going well. Marley continues to make progress though at a snail's pace. She loves to stand, supported by our fingers and she is constantly giggling and smiling. She puts out her arms when she wants to be picked up and she whines and fusses when she doesn't get her way. She still babbles constantly but has no distinct words. She is constantly "communicating". She loves music, especially hip hop and pop, and watches my mouth intently when I sing to her. She wiggles constantly, rolls everywhere and loves being thrown into the air.

On Friday she was scheduled to have a sedated hearing test and MRI. It once again got cancelled when a nurse noted in her chart that the cardiology clinic has forbade any elective sedation for at least 4 months after her cardiac cath. The more time I spend at Seattle Children's Hospital, the more I am disappointed. I mean really, how hard is it to schedule an MRI? Are they just complete morons? I am relieved that Marley won't be getting poked a zillion times but geez, what does it take to get them to do something right?

Let's rock...and roll

In an effort to not seem completely morose I think I should mention some of the highlights with Marley since her our horrible experience with her cardiac cath.

1. Marley is rolling. She's a rolling fool. When she first learned, it seemed like it was the only thing she wanted to do. Now that she has accomplished rolling we can move on to her next gross motor skill- moving from a lying to a sitting position.

2. Marley is growing! In the last 4 months she has grown 2 inches and her head circumference has grown too. She is still holding steady at 17 lbs but that's okay. I almost feel like her body is slowly turning into that of a toddler's. She's leaner, longer- all that rolling and twisting is given my chunky, little baby some sweet abs.

3. Marley now has 4 teeth. Sharp, little, gorgeous teeth. She loves to grind them together and flash them when she makes her happy grins- and she makes lots of them!

4. Marley is giggling a lot- and at totally random times. A year ago as we were emerging from 4 months of hellish colic I could never have imagined I would one day have a giggly baby. She has the sweetest chuckle I have ever heard.

So all in all, doing pretty well. We've also had to deal with impetigo, pink eye, constipation, allergies and some unknown skin rash- but things all easy to deal with in comparison to her cardiac issues and seizure disorder. In August, Marley will need a sedated hearing test and MRI and I've promised myself it WILL be the last anesthesia for a long time. We also have a cardio follow up, neuro follow up, nutrition follow up, new neuro consult and ENT consult.