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!

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. 

My little unicorn

Marley's cardiac cath was on Friday.

We checked in at 7:15 am and surgery began at 8:30. It was tough to let her go but I felt confident that she was in safe hands. Surgery was over and she was transferred to the PACU by 11am. The cardiac surgeon came out and let us know that the cath went well, that he was able to clearly identify the stenosis in her pulmonary arteries and the coarctation in her aorta. He ballooned the areas, but being so flexible, they resumed to their original state. While he couldn't "fix" her that day he did tell us that she will probably just need another cath when she's a few years older to place stents to keep her arteries and aorta open.

Not exactly what we wanted but at least she was okay and we found out the problem is fixable- just not for another few years.

We went up to her hospital room to await her arrival. 2 hours passed before she was wheeled into the room. The nurses explained that she had a small blood clot develop in her right leg where the cath was placed. It seemed to have resolved on it's own but the cardiologists would be up momentarily to talk to us about it. Okay...

A couple of surgical residents arrived and took a look at Marley's leg. It was definitely mottled, dusky and cooler than her other leg. The doctors tried to find the pulse in her foot (pedal pulse) but couldn't locate it. I admit, it's a pretty tough endeavor what with Marley being a little chubster, but they weren't having any luck.

They discussed with me starting Heparin, a blood thinner to help resolve whatever clot might possibly be there. I concurred. I did until I found out that they had to draw her blood every 3-4 hours to check her coagulation levels so that they could titrate the Heparin dose to a therapeutic level.

Blood draws every 3-4 hours!!! Have I mentioned before how difficult a stick Marley is? Squeezing water out of a cactus with my bare hands would be an easier feat! I suggested starting another IV. As hard as that would be, I wanted to save her the torture of multiple needle pokes.

Well easier said then done. One of their most experienced IV nurses poked her 2 times. No dice. Then a phlebotomist did 2 heel sticks followed by a finger stick. He got enough blood but it clotted by the time it was brought to the lab. In between the screams and tears (mine and Marley's) a doctor would come by trying to find the pulse in her foot.

I was fed up. REALLY FED UP! I just couldn't take it anymore. I was ready to just pick her up, pull out her existing IV, and take my baby home. The nurses rationalized with me and Jason threw in his two cents which I think calmed me down. I asked the doctors what would happen if we just couldn't get blood out of Marley. Their response? If it takes 27 pokes, we will get blood.

Gee, what a great plan!

I agreed to one final attempt. This time I was promised that Cindy, an IV nurse with hundreds of years of IV experience would attempt the impossible. I bargained for some type of pain medication to help lessen Marley's pain, and the doctors agreed to give her Morphine. It may not completely take away the pain, but it would mellow her out a bit so that perhaps she would scream.

When Cindy arrived I quickly left the room to take a walk. I felt guilty for leaving my baby but I just couldn't see her go through another painful stick. When I returned the IV was in her head (yikes!) but she wasn't crying and I felt so relieved. That was until Cindy told me that she had to shave a small potion of Marley's hair to insert the IV. She had wrapped up the hair in a bandaid and ceremoniously handed it to me exclaiming, "her first haircut!" Yup, that was it. I lost it. I started bawling uncontrollably. I couldn't believe my baby's first haircut was in the hospital. 

But the IV was in and the blood was drawn. The IV actually worked pretty well for at least 2 blood draws until the vein collapsed. And the Heparin worked quickly. Within just a few hours her leg's appearance resumed back to normal and things were starting to look up. And gosh did she look so cute with this funky IV tubing sticking out of her head. She became my "little unicorn" and was nicknamed appropriately.

The next morning I left to go home and shower and when I returned Jason did not have very good news for me. The doctors STILL couldn't locate her pedal pulse and were now threatening to keep Marley for another night if her pulse could not be found. Oh, that was the last straw for me. I had the current cardiologist paged to our room immediately. 2 young doctors arrived. They explained the situation while I tried as best as I could not to bitch-slap them. Fortunately one of them was finally able to find her pulse, of course in a spot on her foot that they had not evaluated earlier. She suggested that they mark the spot to which I responded very sarcastically, "wow, that is the smartest decision you guys have made since we got here!" Not surprisingly, I did get a dirty look.

The mark was made, the heparin was discontinued and we eventually were discharged home with a prescription for baby aspirin that Marley needs to take every day for the next month. But I didn't care. We were home and consequently, I had the best mother's day ever.

But I feel really let down by the doctors at Seattle Children's Hospital that I entrusted my baby with. Why didn't they mark where her pulses were before the surgery? Why didn't they start another IV in the PACU when she was still asleep when they discovered the clot? Why did it have to take so long to get the Heparin started? I'll probably not have any of my questions answered. Maybe it doesn't matter anymore. But I can't shake the anger and frustration I have towards the people that were suppose to be the experts.

And poor Marley. She was such a trooper through all of this. It tore my heart out every time she got poked. I don't know who was in more pain, her or me. 

Since we got home she's been more emotional. She's very happy but it's hard to put her down for naps and bedtime. She has become more clingy, more needy and I can't help worrying that she was scarred by the events at the hospital. It just doesn't ever get easier.

A step forward?

I really can't tell where I'm at.

We met with the neurologist who recommended (though Marley's EEG was normal and she hasn't had a seizure in over a month) that she start on the anti-seizure medication, Keppra (or the generic which is too hard to spell).

I can't say I was surprised and if I was looking for a doctor's appointment where there seemed to be a solution to a situation, this was the one. His rationale was that most likely she will have another seizure in her lifetime- be it febrile or complex, so why not try to nip it in the bud before it becomes the big, ugly monster that a seizure disorder can quickly turn into? Sadly, I had to agree. In my heart I know she will have another seizure. It's only a matter of time. And I can't wait on edge for the next one to hit at anytime. It's like living on the San Andreas fault in a  flimsy little glass shack. I'm insane if I didn't think the "big one" will hit in my lifetime.

Unfortunately, the Keppra is no guarantee that the seizures won't happen. Isn't that completely fucked up? Fortunately, Keppra has few side effects- mostly sleepiness. 

So after much hemming and hawing we started giving it to her a week ago. Instructions were to start at 80 mg daily for 1 week then increase to 80 mg twice a day. I haven't mustered up the courage to move to twice a day. Not that she's having any side effects- hell, I can't really tell. She sure isn't any sleepier but she does seem more agitated, which could just be normal teething behavior. It's constant teething around here nowadays.

I just didn't want to go there. I just didn't want to admit that my baby has to be on medications. I use to say to myself when Marley was an infant, "with everything she has, at least she doesn't have seizures or is on any medications". Strike that. I feel so defeated, like what do I have to look forward to? We're still diagnosis-less, we still don't know what the future holds for her or us. There are no answers, no direction, the road is empty, wide open and there are no signs directing me as to which way to go.

So for those who see me on a daily basis, or maybe weekly or hardly at all- when you ask me how I am or how Marley is, I apologize for my vague answer. Honestly, I'm just okay and so is Marley. I wish I could be more cheerful, more hopeful but I just don't feel that way. So please don't be put off but my meek smile; I really do appreciate the gesture.

Seizures just suck

I wish I had good news to update you with.

So Marley had a febrile seizure the day that she got her Hep A, Varicella and MMR vaccinations. I was so unprepared. One moment she was acting totally normal then she screamed and seized for about 45 seconds. After a visit to the ER and a night in the hospital, we came home...all very exhausted.

Nine days later, after she went to bed I heard her wake up, moaning. She eventually fell back asleep and when I went to check on her I noticed that she was very stiff and barely breathing. I picked her up and she was very lethargic- rather postictal like she had just had a seizure. As I held her and we rocked, the right side of her body seized up. She was crying and her head turned to the right while her eyes deviated towards the right too. She was breathing but completely unresponsive. Once again we went to the ER and she continued to seize for the next 2 hours. She eventually fell asleep, and when she woke up a half hour later she was back to her usual goofy self. A CT scan was performed and came back normal. We were discharged with rectal valium but no anti-seizure medications. The reason being is that kids are not prescribed anti-seizure meds until they have had at least 2 real seizures.

So we went home and waited...on the edge of our seats. Marley slept with us for at least a week before I felt comfortable enough to let her sleep in her own crib. Since that horrible night I check on her constantly. I haven't had more than 3-4 hours of straight sleep since. I am exhausted.

Marley had an EEG on Monday that was normal. Great, right? Well a normal EEG doesn't mean she won't have anymore seizures. I know in my heart she will have another; its just a matter of time. I teeter between complete paranoia and total despair. I try not to think about it too much because the fear is overwhelming. I can't prevent it, I can't know when it will happen...I just know it will.

We meet with a neurologist next week. I have so many questions. I don't even know where to start.

New news

There is so much to catch you all up on!

So I know I mentioned our visit with the biochemical geneticist, Dr. Merritt last month to get a "fresh" look at Marley's syndrome because maybe, just maybe she might not have DOOR. Well...the repeat urine analysis was NEGATIVE for any metabolites. Which may mean she doesn't have DOOR and even better it may mean that she doesn't have a metabolic syndrome. Dr. Merritt thinks that the elevated metabolites present when she was a newborn were due to having an immature liver. Of course, there are cases of DOOR where there aren't increased metabolites but those are even more rare and in those cases there isn't neurological involvement (ie developmental delays) which Marley does have.

A syndrome that Dr. Merritt is looking into is CHARGE syndrome. She has some of the common characteristics of CHARGE (coloboma, heart defects, developmental delays and hearing impairment) but she also has characteristics that aren't typical of CHARGE such as the tethered spinal cord and her disfigured fingers and toes. CHARGE affects 1 out of every 8,000-10,000 births and there are many websites and foundations for children affected by the syndrome. There are genetic tests to confirm the diagnosis but they are only effective in 2/3 of suspected cases.

Of course I poured over these websites. My first impression was that Marley didn't fit the look that seems consistent of kids with CHARGE. I can't really describe it and I sure don't want to offend anyone...check it out for yourself and tell me what you think. And the other thing is that kids with CHARGE don't seem to have disfigured fingers and toes and to me- Marley's funky digits seem like a major characteristic of whatever syndrome she has. You know?

So today we met with orthopedic genetics. An orthopedist and a geneticist that specializes in orthopedics. Marley had a ton of x rays and I think we all got more than enough radiation exposure to last us at least a few more years. The x rays just confirmed that she is missing bones in her fingers and her feet are definitely funky. It also revealed that her left hip is dysplastic which means that it is poorly formed. Her left femur (thigh bone) is also slightly shorter than her right femur. Her orthopedist said the abnormality shouldn't affect her ability to walk but that if it doesn't resolve by the time she's 4 years old, she may need surgery on her hip socket to create a deeper groove. He is also referring us to a hand surgeon to evaluate her hand deformities.

Anyone seeing a pattern here? Coloboma in her left eye, moderate hearing loss in her left ear, short left pinkie, shallow left hip, short left femur, missing toe of the left foot. Oh, and here's something weird- when I got pregnant with Marley I ovulated from my left ovary that month and my placenta was on my left side. Hmmmm...anyone want to take a stab at that one?

Anyway, we're not any closer to knowing what Marley does have but I'd be happy enough to know that she doesn't have a metabolic syndrome. I'll wait for that confirmation by Dr. Merritt. Next up is meeting with a neurologist and endocrinologist next month, then her cardiac cath and MRI. We're also going to meet with a neurodevelopmental doctor that specializes in caring for kids with special needs.

More later!

Not again!

Marley had another febrile seizure. Fuck.

Yesterday I took her to her 12 month check up. After her vaccinations I asked the medical assistant to check her temperature. I had noticed that she was feeling kind of warm but my thermometers all showed the her temp was normal. The medical assistant reported that her temperature was between 99 and 100 degrees.

We went home and I gave her some Motrin. I had already given her Tylenol before we left for the doctor's. The rest of the day we spent playing, napping and eating- her regular activities. She was playful but irritable at times, which I attributed to the shots. Her hands and feet were also slightly purple but I thought it was because she was slightly cold.

After her last nap at 3 pm she woke up, I gave her more Tylenol and tried to feed her a bottle. She played with it, obviously not interested. I sat her up and she let out a high-pitched scream. She stiffened up and started shaking. I held her close to my chest and called 911. I looked over at her and she was turning blue. After a few seconds she began to breathe but she was completely white and lethargic.

The paramedics arrived and escorted me over to Seattle Children's Hospital. Her temperature when we arrived was 102. She was poked and prodded and while stable (though tired) the doctors recommended that she spend the night for observation. She had a few episodes of cyanosis around her lips though her O2 sats remained stable.

Our pediatrician, Dr. McPhillips came to see us in the morning. Her conclusions about the cause of the seizure was that the vaccinations on top of her low grade fever precipitated the event. Marley's poor little body couldn't handle the huge immunological response and just, well, went haywire. 

We came home this afternoon and Marley is doing well. Besides a mild case of diarrhea caused by the IV antibiotics she received, she is back to her playful, feisty self.

I have a feeling this is not the last febrile seizure that Marley will have. Febrile seizures are common in children up to 6 years of age. So we have 5 more years of wringing our hands and pulling out our hair with worry every time she has a cold or slight fever- which with babies is like, ALL THE TIME.

Blah. It just sucks. It just REALLY sucks. Poor Marley. She's just an innocent baby. What did she do to deserve all this?

Happy Birthday Marley!

Our little girl is 1 years old today!

I spent a lot of time today reflecting on the anniversary of her birth. I admit that I don't have many fond memories of that day. While labor and birthing were relatively easy, once she came out, the reality of the situation was pushed into my face. I am ashamed to admit that her birth brought a lot of sadness, months of grief and anger, and to this day I still struggle with my loss of a "perfect baby".

But Marley is here and she has made me a much stronger person than I ever imagined. I truly am the strongest person I know. Hands down. And I am so proud of all that Marley has accomplished in this year- she is absolutely nothing like that screaming newborn that tested my patience and sanity. I mean, she still tests my patience; you have to be patient when you have a child that is developmentally delayed. But I really look forward to seeing all that she can and will learn in this coming year.

Saturday is her birthday party. Marley will have cake for the first time, and I will pour myself a very stiff drink and raise that glass to celebrate with my friends all that is Marley.

so what do we know?

On Friday we had our much anticipated appointment with Dr. Merritt, a biochemical geneticist. If you've got a metabolic syndrome- this is the guy to see. First we met with a fellow who gave me a very in depth interview in all things Marley. She then conferred with Dr. Merritt who then came in to discuss his thoughts and make a plan. 

I asked him if he truly thought Marley has DOOR. I mean, without knowing which gene was responsible, could we really be certain of her initial diagnosis? And, is the cause of her condition really the result of Jason and I being carriers of the same mutated gene? Dr. Merritt could not confirm that Marley has DOOR and therefore wants to approach the situation with a "fresh look"; take all the information we now know about Marley (that we didn't know when she was 6 weeks old and first diagnosed) and try to come up with a more accurate diagnosis, if it exists. He noted that her original urinalysis revealed elevated levels of a few metabolites. He would like to repeat that urinalysis to compare the two. He would also like to repeat the MRI to see if there are any changes to her myelination.

The best case scenario would be to discover that she doesn't have a metabolic syndrome because then we could have hope that her condition won't deteriorate as she gets older. For those of you who don't know much about metabolic syndromes, they are absolutely awful. They are almost always progressive in nature. Most babies with metabolic syndromes either die in childhood or grow up to be profoundly deaf, blind and retarded. It just all around sucks.

So if you're the praying type, or if you need a reason to take it up, could you please say a few kind words for Marley. Something like, "Dear God, Gaia, Allah, Lord, Baby Jesus, etc. Could you please let Marley not have a metabolic syndrome?" That's all. Pretty simple.

So the next step is just to wait to hear from the geneticists. Well, I do need to collect the urine sample which is a total pain. If you've ever had to "bag" a baby girl you know what I mean.

Next up: Orthopedics.