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.

Hello Seattle!

We are here. Finally. 

We have begun the process if plugging Marley into all the medical and therapy services that Seattle has to offer. Our first appointment was with the Boyer Clinic where she will receive the majority of her early intervention (EI) therapy. We met with a nurse who did a brief assessment of Marley's delays and quickly confirmed that she eligible for all services. Of course, we didn't doubt that for a minute. Here in Washington, EI first bills your insurance (if you have any) and then the rest of the therapy is covered by state and federal grants. So I will have to pay a copay every time the therapist comes to our house and of course I have to meet a $2000 deductible before insurance will cover the sessions. Ouch. I love how companies are choosing high deductible health care plans for their employees to save them on the monthly cost of premiums. That works great for people who are healthy and only have to go to the doctor for preventative care... but that does not include Marley. 

Anyway, I digress. A family resource coordinator contacted me to tell me that I will be contacted soon to schedule a time for her and an occupational therapist to come to our home to assess Marley. I am hoping this happens sooner than later.

Yesterday we met our new pediatrician, Dr. McPhillips. She was recommended to us by our fabulous neurologist back down in SF. As our main doctor, she will be responsible for helping us coordinate care with specialists and make referrals. The list is as follows: Orthopedist, Neurologist, Ophthalmologist, Nutrition, Genetics and Endocrinologist. She mentioned that she would connect us with a metabolic/genetics specialist who may help us figure out Marley's syndrome and the implications for her life long term. She weighed and measured Marley and she is now 15 lbs 10 ozs and 24 inches long. She is height/weight proportional but is concerned that she may be dropping off in length. One of her thoughts was growth hormones which is something that we can discuss with an endocrinologist.

Today we trekked a whole 2 blocks to Seattle Children's Hospital for a cardio echo (ultrasound of the heart), a chest x-ray, a meeting with a cardiologist and a visit with an audiologist. Wow. Seattle Children's is AMAZING. Nothing like decrepit UCSF. It is so clean, organized, efficient...I could go on. Marley was a doll during the echo and x-ray. The cardiologist, Dr. Conwell explained in detail his findings. He believes that she has stenosis in both of her pulmonary arteries and has a moderate coarctation of her aorta. He recommends a cardiac cath to investigate further and possibly dilate the arteries with a balloon. He is going to chat with one of the cath doctors and call me with a decision. He said most likely, the catherization would take place in the next couple of months. She'll be put under general anesthesia and need to spend the night. I am not surprised by his findings. At this point I'm just ready to get her heart issues corrected as soon as possible. He also recommended that she be on monthly injections of Synargis to prevent RSV which is more common in babies with heart issues.

Lastly, we visited audiology today to have her new ear molds fitted and to establish care. We attempted a hearing test but Marley is not consistently turning to sounds. We will try again in a few months when she needs new ear molds or we may have to have her tested during light sedation.  The audiologist was very kind and helpful and gave me a list of centers that provide EI services for hearing impairment. 

Whew! I feel like I got a lot accomplished. I'm starting work on Monday and Jason starts his new job the week after that. We've hired a full time nanny to care for Marley and she will also bring her 2 year old daughter to our house. I think that having another young child around will be really good for Marley. I hope that her daughter will be able to teach Marley a few things and help Marley develop her social skills. Already at their first meeting, Zoe took away the toy that Marley was playing with (in true 2 year old form) and Marley began to cry. I loved every minute of it because it showed me a side of Marley's development that I had never seen before- a small developmental milestone happened before my eyes all thanks to a little, feisty 2 year old.

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.