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?