Moving on

On Tuesday Marley had a VCUG test to test her bladder function. She cried a bit as they were inserting the catheter (but who hasn't?) but once it was in she was all smiles. The test took a mere 10 minutes and she even graced us with a huge poop during the procedure. 

Once the test was completed (and she passed with flying colors), I contacted her neurosurgeon's office to schedule her surgery to repair her tethered spinal cord. December 17th is the date and will only be delayed if there is a more serious case (like a brain tumor) that would take precedent.

It feels good to have finally have a surgery date. Finally we can cross off one of her "issues" off our to-do list.

24 hours in the PICU

So my worst fear came true. Marley had a seizure.

The last 7 1/2 months have been a waiting game. 88% of babies with her syndrome have seizures. I always wanted to believe that she would be the lucky one- but she isn't.

On Tuesday she came down with a runny nose. Tuesday night was a really long night for all of us. She was awake every hour and half- miserable. On Wednesday the nasal congestion got worse- there was baby shot everywhere. And she was increasingly becoming more irritable. She felt "warm" but her temp was always normal. I gave her her last bottle at bedtime and 20 mins later she threw up all over me. And she felt hot. I checked her temp and it was 100, plus she was extremely lethargic. My mother and nurse instinct told me that something wasn't right. We left immediately for the ER.

Within 5 minutes of our arrival (before she was even admitted) she began seizing. Her body became rigid and her face turned white then blue. She was not breathing at all. I ran into the ER and 10 doctors and nurses surrounded her. The seizure ended after 2 minutes and she began to breathe on her own. 8 needle sticks later an IV was started and we were transferred via ambulance to another hospital with a pediatric intensive care unit for observation. Her temp after the seizure was 103.

During the night her temp stabilized but she had another, shorter seizure. He O2 sat dropped again but rebounded with some supplemental O2. A doctor performed a lumbar puncture to rule out meningitis. It was negative. Her bloodwork was essentially normal meaning that she most likely has a viral infection- which means no antibiotics. She continued to be stable for the rest of the night- receiving motrin and tylenol around the clock.

In the morning we met with a neurologist who discussed that the seizures were probably related to her syndrome and that the fever lowered her threshold for the seizures to occur. He ordered an EEG which did not show any seizure activity but that doesn't mean that she won't have another. It did mean that we didn't need to start her on anti-seizure medications which can have "unfavorable" side effects. 

24 hours after this nightmare began, we finally went home. Marley is still congested and she coughs a lot. We saw her pediatrician today who recommends that we keep a watchful eye on her. I'm checking her temperature every 30 minutes and continuing to alternate doses of Motrin and Tylenol.

This has just been so surreal. I just had so much hope that Marley would make it to a year without any seizures. I know febrile seizures are common in babies her age but I had no idea that a little nasal congestion could so quickly turn into a major seizure. I am so afraid of her catching another cold. My instinct is so become on of those hyper germ phobic mothers who bleach everything in site. But I don't want to be that person. That would make me feel even more insane. But how do I protect her? 

This is truly one of the worse experiences I have ever gone through.

Scoot, scoot, scoot

You know who I love? Early Start therapists. Early Start is an early intervention program created and funded by your tax dollars to help children with disabilities ages 0-3 years. It's aim is to "intervene" during the period of greatest brain development to mitigate the the degree of disability. 

Our therapists, Linda (a hearing/speech specialist) and Lydia (a physical therapist) come to our apartment every few weeks to evaluate Marley's development, work with her on her skills and answer any questions that we have. And did I mention that it is free? Yes, your taxes are actually being used for something good.

Anyway, I admit that I experience a sort of "high" after these wonderful ladies have visited. Working everyday with Marley, I have a hard time seeing the progress that she's making. Sometimes it's downright frustrating to not see her just sit up or crawl like so many other babies seem to do. When Linda and Lydia are here they always exclaim how much Marley has changed since their last visit. The point out the small things such as her stronger arm strength, her proactive grasping of objects and her increased flexibility. Maybe it's not the big milestones of sitting up unassisted or crawling but they are smaller milestones that are necessary to reach the big ones. Plus, they praise me for the work I have been doing; that really means the world to me.

I'm still impatient.  I can't wait for her to crawl, stand and walk. I really can't understand why other moms lament about how quickly their babies grow up. I guess that's one of the things that sets us apart and makes our worlds so different. When you have a special needs child, developmental milestones can't come quickly enough.

Feed this baby!

Today was the appointment I've been looking forward to for awhile- a visit to a registered dietitian to evaluate Marley's eating habits and devise a plan to deal with her slow weight gain and metabolic disorder.

First off, the RD did not think it is necessary to have Marley on a high calorie formula. She said that the special formula wouldn't increase Marley's height but just help her to pack on the pounds. She advised that we not continue with that particular formula as we might one day have a very short but overweight baby. So back to the regular formula- which is much cheaper too.

We talked at length about DOOR syndrome. I gave her the literature review that our geneticist cowrote which of course does not give any nutritional guidelines on how to manage the metabolic aspect of the disease. I asked her if it would be detrimental to Marley's health to raise her as a vegetarian and she said no. But she also didn't think that eating meat would hurt her.

I am inclined to withhold meat from her diet. I don't know. Something in me tells me that meat may be harmful. Maybe it's ridiculous to think that way. Is it mother's intuition? I feel that I could responsibly supplement her diet with protein alternatives such as eggs, tofu, beans and milk. I'd at least like to try.

Anyway, I think it was a productive meeting. She gave us a handout on solids to help guide us on which foods to give and when. Among my surprises for a 7 month old-  2 ozs of diluted juice, 4-6 tbsp of cereal, 2-4 tbsp of veggie or fruit at least 3 times a day, crackers, snacks. Yikes! It all seems so grown up. 6 months ago she was barely eating an ounce of breast milk or formula per feeding.

On a lighter note: Marley has become super playful lately. Her new favorite game is hanging upside down. She'll be sitting on my lap, sucking on her lower lip then throw her head back as if she's saying to me, "c'mon momma, let's play!" So I lower her backwards holding onto her arms and swing her between my legs. As I draw her back up she flashes me with one of her cute, goofy grins. A truly adorable "thank you!"

Melts my heart.

We've got a chunkster!

Today I took Marley to her pediatrician, Dr. Johnson for a weigh in. Her doctors are concerned about her slow weight gain and for the last month I have been feeding her a high calorie formula so that she'll pack on the pounds.

I am happy to report that she is a whopping 13 lbs and 23 inches long. That's still the 1st percentile for both but she has gained more than a pound in a month which is more than I could've hoped for.

Dr. Johnson is not too concerned about her small stature. Marley is happy, healthy and is only a couple months behind in her developmental milestones. From what I've learned through my research on the internet (so dangerous!) is that slow weight gain is common for babies with a metabolic disorder. Plus, I am only 5'3", Jason is 5'7"; so our petite baby takes after us.

Next week we go to see a registered dietician at Oakland Children's Hospital. Before our appointment I must complete a food diary for Marley. Uh...formula, peaches, formula, sweet potato, formula, etc.

Separation Anxiety

Lately Marley has become rather clingy. The appropriate term would be "separation anxiety". An important developmental milestone that usually develops at 6-7 months of age- it basically means that she needs to see me or Jason at all times.

It began over a week ago when my mom was babysitting. She called me concerned that Marley was constipated (because my usual pooper hadn't pooped yet that day). Marley was inconsolable so I rushed back to my mom's house. Poor baby, there she was lying on a balnket, my mom rubbing her tummy. Big tears were streaming down her cheeks. She was misearble. I picked her up, kissed her wet face and the crying stopped. Within a few minutes she was back to her usual babbling self.

She has also started to hate her stroller. If she can't see me (which she can't because I'm pushing her), she screams. When friends come to visit and hold her, she cries if she can't see me. She'll push out her lower lip and her whining will quickly turn into wails. I usually have to get right in her face and reassure her that she is okay.

I know that this is a normal phase for her to be in and that once she understands object permanence she'll know that just because she can't see Mommy and Daddy doesn't mean we're not there. I admit that I kind of enjoy this phase. It makes me feel very wanted, special and needed. Now that the colic is over, I'm really enjoying Marley's company. She is so much more engaged, so much more willing to play.

For now, I am going to enjoy her that I am her favorite person. She is so cuddly and snugly. I'm sure before I know it I'll hardly be able to hold onto her as she increasingly becomes aware of this interesting world.

A visit to the Neurosurgeon

Today we took Marley to Dr. Gupta, a neurosurgeon at UCSF. After waiting for 30 minutes I marched into the room where they were viewing her MRI, and clearly stated that we needed to be seen before Marley lost her mind (getting over tired). I probably wouldn't be so pushy if it wasn't for the fact that I am a nurse and one of my many duties is to kick doctors into moving it along when they're dragging their feet.

Marley was evaluated for surgery on her tethered spinal cord. Basically her cord is longer than average and is tethered down at the base of her spine. Normal would be if it was free floating. The risk of not having the surgery done is that she may have long term mobility issues. Surgery in the next few months will be to release her cord. It's a pretty basic procedure. The cord will be cut below the main spinal cord so there is no risk of paralysis. Dr. Gupta even mentioned that they don't even go anywhere near the cord. The main risks are anesthesia, infection, etc- the main ones that pertain to all surgeries using general anesthesia. After the surgery, Marley will remain in the hospital for 3 days and then have a dressing over the incision while it heals. She will receive vicodin and tylenol for pain management.

Before we can schedule the surgery, Marley must have her urinary continence evaluated by a urologist. I guess babies with tethered cords can have incontinence issues that can affect toilet training. Dr. Gupta wants to make sure that is not an issue before performing the surgery, though correcting the cord will treat the incontinence.

A urologist should contact us in the next week to set up an appointment. She'll have to be catheterized for the test which hopefully will be easy.

Now that Marley is 6 months I feel like we can finally move forward with some of her treatment. The first 6 months was such a waiting game and I time of just evaluating the extent of her birth defects. I'm beginning to not feel so helpless in helping her become a fully actualized little human being.

It's a good day.