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.

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.