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!
2 comments:
Have they looked at anything to do with the cilia in her body? Does she have digestive problems? I know that left-right symmetry in the body is determined by the direction of the beating cilia in early embryonic (and later) development; perhaps that has something to do with why her left side seems to be more affected? (I have 2 degrees in Molecular/Cellular biology and did my MS thesis in a Development lab, so I tend to think of that kind of thing). She is getting cuter by the day! I absolutely love her little nose, it just begs for kisses! Best of luck!
i got this post uin my google blogger and wanted to write im a charge syndrome adult and soem of what you said made me feel i should tell you a few things no she doesnt have the face but not everyone does i dont but heres my but there are soem that are simila to charge if youlook at the charge website you will see the ones i mean think its in info then theres well just look around one thing that i am thining she could have is kabuki charge sister as we call it i know antoher charge person form the chaqrge lsit who was a charger and now is kabuki and they told me bout this lsit serve for it to its good for the both to get to know each other as we r so close so jstu keep updating but from that description if you google that u may get soem answers or google syndromes simila to charge
hugs ellen in aus
Post a Comment