Can you see?

Yesterday we had a follow up appointment with Marley's opthamologist, Dr. Good to check the condition of her coloboma (hole in her retina). It remains unchanged which is good and doesn't infringe on her macula so it shouldn't affect her vision. But I guess one of the risks of having a retinal coloboma is that it can cause retinal detachment. A very rare occurrence and one that Dr. Good has never seen in his 20 years of practice. That's reassuring but we haven't had the best of luck "beating the odds".

Dr. Good also assessed Marley's vision to be 20/20 and that she is slightly nearsighted in her left eye. I am extremely near sighted (well I was before Lasik surgery) but Jason has perfect vision. Dr. Good explained that just based on genetics she has a 30% chance of being nearsighted. Let's keep our fingers crossed that the child won't have to wear hearing aids AND glasses as she grows up.

He also confirmed that Marley has mild strabismus (crossed eyes). He said at this point there is no need to fix it. It may go away as she gets older or she may have to have surgery or eye patches to correct it. But we'll cross that bridge when we get there.

Overall, a good appointment. He instructed that Marley see an opthamologist every 6 months to rule out retinal detachment and he even recommended an opthamologist in Seattle for continued care.

I am so glad 2008 is almost over. It's been such a painful year but also a year of so much personal growth. 2009 looks like a very exciting year. We're moving to Seattle, I'm starting a new job and Marley will accomplish many wonderful milestones that I can't even begin to imagine.

I hope the new year brings you much happiness and thanks for following this blog so far. I hope to be able to share with you all some really wonderful stories in 2009!

Marley comes home!

We are now home!

And in much better spirits. We once again met with a cardiologist who clearly explained the situation (even drew us a diagram of the heart) and reassured us that Marley's conditions are rather mild on the spectrum of congenital heart disease. He reiterated that she should have a cardiac catherization in the next month or two as well as a catherization or heart surgery when she's older to repair the coarction of her aorta.

The lung scan performed today showed 40% perfusion to her left lung and 60% to her right lung. That indicates that there may be also an issue with her right pulmonary artery. The cardiologist recommends that when she has the catherization, the doctors in Seattle can better assess if there is an issue with the right side.

So all fixable conditions in due time. Yes, another issue to cross off the list but manageable. And fortunately, in Seattle we'll be living 2 blocks from the Children's Hospital.

For now we need to let Marley heal from her surgery and work on getting back onto a daily schedule. Here it is, 8:30pm and she is still awake. I expect the next few days will be a challenge just managing her pain and activity. Plus she now has diarrhea- most likely the result of the antibiotics she received during surgery.

But we are so glad to be home, and Marley is doing well. And that's what counts right now.

Marley in the Hospital: Day Two

On day 2, Marley has begun to wake up more. She is now tolerating fluids and even pooping. Her neurosurgeon is very pleased so far by her recovery and is confident that we should be able to go home on Saturday.

While still in the PICU, one of the rounding doctors noted that Marley has a heart murmur. She advised that she have an EKG and echocardiagram (ultrasound of the heart) done to rule out any heart issues. When Marley was in the hospital after her febrile seizure, an attending also noted a heart murmur and when we asked our pediatrician about it, he basically blew it off.

Once Marley was transferred to a regular unit, the echocardiagram was performed and two cardiologists came in to discuss the results. They diagnosed Marley with stenosis of her left pulmonary artery and stenosis of her aorta. Both conditions are relatively mild but she does need cardiac catherization within the next few months to open up her pulmonary artery and she will need open heart surgery when she is a little older to fix her aorta. Before she is discharged from the hospital on Saturday she will need a chest xray and lung scan to see if she has any lung damage.

Jason and I are a mess. We have been caught totally off-guard by this new condition. Our goal with her tethered cord repair was to be able to cross off one of her issues from her list- not create more problems. We also thought this was the only surgery she would ever need. We both feel like we've received a quick blow to the chest- we are devastated.

I don't really know where to go from here. I cry. A lot. I just feel so discouraged and angry and tired. I am SO tired. I could sleep for days. All I want right now is to be able to pick Marley up and hold her and I can't even do that. I just want to bring her home.

Marley in the Hospital: Day One

Marley's surgery to repair her tethered cord was this morning. We arrived at the hospital at 6:45am and after 2, long hours were finally sent upstairs to admit her for surgery. It was hard to say goodbye to her, but we felt that she was in very capable hands.

The surgery was relatively quick. Our neurosurgeon, Dr. Gupta called us at 11:15 to let us know that the surgery was complete and that Marley had done very well. We met her in the PICU a half hour later and she was semi-awake, crying.

I write this entry at 8pm and in that time Marley has very slowly woken up from her anesthesia. An IV is placed in her neck because they couldn't locate a vein to use in her arms, hands or feet. IVs in the neck suck because every time she bends her neck the IV tubing gets occluded, which causes the pump to beep loudly, which wakes her up with a start. The nurses have assured us that when she is able to tolerate fluids orally then they can take off the IV tubing but leave the IV in so she can continue to receive IV morphine.

She's receiving the morphine about every two hours. She gets quite high within a few minutes and it's quite the site to see her eyes glaze over, her muscles relax and her breathing slow down. I think my little baby likes being high.

But it's horrible to see her in pain. Any little movement makes her grimace and cry. I can't imagine how sore she feels and it makes me feel so bad for having put her through this ordeal. I wish I could pick her up but I am not allowed to yet; she needs to remain flat and immobile for the time being.

Tomorrow she will be transferred to a regular room. The plan is to keep her in the hospital at least until Saturday. She needs to be able to tolerate oral codeine before she can leave.

I'll try to update this blog daily while she's here. Thanks for all the kind emails, calls, prayers and positive thoughts today. It really makes the experience more bearable knowing that so many people are thinking or us and wishing Marley the best.

A quick update!

I feel like I haven't been posting lately which may be a good thing. With a child with health issues no news usually means good news.

But I wanted to let everyone know Marley's recent stats from her 9 month doctor's appointment this week.

Weight: 14 lbs 12ozs

Height:24.5 ins

She is still in the 1st percentile but she is growing! 

Most of her clothes are 3-6 months yet I still have to roll up her sleeves. She has short little arms and legs which is just like me and her daddy. Strangely, she has the plumpest little butt and thighs; I can barely pull her pants up over her hips. Where did she get that from? 

Also, on a very exciting sidenote, I have accepted a full time job in Seattle. So we are officially moving back to the Northwest in January. I have started the arduous process of organizing our move, and my friends in Seattle (especially Libbe) have been working very hard to find us a place to live. I feel very optimistic about Seattle. Our early start therapists have assured us that Seattle is one of the best cities for children with special needs.

Marley's tethered cord surgery is coming up on the 17th. Please check the blog periodically for updates!

Whew!!!

I know I've had some of you worried with my cryptic facebook status entries. I didn't want to go into the details until we saw Marley's neurologist today.

Background: Since Marley's febrile seizure last month she has had at least 3 episodes of facial spasms/twitching. It usually occurs when she is tired and I am feeding her a bottle. She'll squint her eyes, wrinkle her nose and contort her lips. Almost like someone is tickling her face lightly with a feather. It lasts 5-10 seconds and she'll usually whine or cry. It is obvious to me that the movement is involuntary. 

So of course that sent me into a spiraling pit of despair. Seizures are so common with her syndrome I think I assumed we were at the beginning of the end. I felt defeated and I anguished over the possibility that she would have to be on anti-seizure medication and even worse- regress in her development.

Today we saw her neurologist who alleviated my fears. I described the facial twitching in detail and Dr. Jenkins listened intently. She asked me if I could "snap" Marley out of the situation. I told her that during the most recent episode I sat Marley up and she stopped. Dr. Jenkins assured me that this was a good sign. She said a seizure is not truly a seizure if you can snap her out of it. Her thoughts were that the facial twitching was just an unusual side effect of being tired or over-stimulated.

She also did a full evaluation of Marley and commented on her progressive development. She estimated that Marley is about 6 months in development which concurs with the evaluation by her Early Start therapists. Overall, she was very pleased and even said, "I think she's doing great".

I am so relieved! I am still cautious but for now I feel so much better about Marley's condition. On a side note, Marley started clapping today. Another major developmental milestone. Yay!

Progress Report

Today we had our 6 month Individualized Family Service Plan (IFSP) review with Early Start. Early Start is the government program that provides early intervention treatment for babies with disabilities. It is a free service to us and the thousands of other families with special needs children and is paid for in part by your taxes. That's right; your taxes are actually being used for something good.

The review is to summarize Marley's current development as well as outline goals for her to achieve in the next 6 months. All of Marley's developmental skills fall within the 4-7 month range (which I expected). Her biggest lags are in fine motor (which could be due to her small hands) and cognition. 

There are lots of goals/objectives for Marley to work on thru the next 6 months (too may for me to describe in this blog). Our therapists emphasized that many of these skills are beginning to emerge in Marley, but stressed the fact that it will take diligent work on our part to help her advance. 

I feel really hopeful. It saddens me that Marley can't be like any other baby and just "learn" on her own but I think that Jason and I are up to the challenge. We've weathered so many bumps so far, I knew long ago that nothing was going to be easy about raising a baby with disabilities.

I also met with my support group today located in the classroom of the Early Start program. All the other parents (mostly moms) have children with auditory/visual disabilities (and then some). It's a great group and appeared in my life just when I was giving up hope of finding anyone else I could relate to.  It's the only place I don't feel awkward, pitied or stared at for having a child that looks "different".

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.