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!!!