The process of diagnosis

Emma was diagnosed with Cerebral Palsy on Jan 2, 2014. An MRI showed bilateral brain damage to the white matter around her ventricles. Her ventricles are double the size of a typical infant of her age. It appeared that this damage was due to a lack of oxygen around the time of her birth. However, her Pediatric Neurologist had a feeling that it was due to something more underlying, so Emma has been through quite a few tests recently. One of these tests is called a microarray, and essentially looks at her chromosomes to detect abnormalities.

On January 16, we met with her Pediatric Neurologist (Dr. Schultz at Dean Outpatient clinic in Madison -- she's AMAZING!) and found out that Emma does have an abnormality. She has extra material on her 13th chromosome on the long arm. It’s quite complicated and we’re not exactly certain what this means for little Emmy yet, but we're working on it. There are only 20 documented cases in the US of disorders in the same area of chromosome 13 as Emma has, and so far we are unaware of anyone with exactly the same abnormality.

Because this is a genetic issue, there is a chance that Daniel, Adam, or I have the same disorder. We will also be undergoing testing over the next few months.

Last week Emma was admitted to the hospital. The doctors performed tests on Emma to look at her blood vessels, her kidneys, and her heart. What did these tests find? They discovered that Emma's carotid artery is tortuous; her blood vessels are smaller than they should be and very fragile; one kidney is larger than the other; she has a heart murmur, and; she has a sensory processing disorder.

Emma has extra material on the long-arm of chromosome 13 -- specifically 13q34. She is nearly 15 months old, and has a very sweet personality. She has only just started babbling a "dada" and "baba" noises. Up until two weeks ago she had yet to utter hard consonant sounds. Emma experiences daily seizure-type symptoms, including absence, trembling, and blinking. She walks very well, but with a wide gait. She loves to look out of the window, playing with toys that have buttons, and watch the Bubble Guppies........ Ohhhhhhhh, those wonderful cartoon fish! Where would we be without them?!!

Little Emma has been given "official" diagnoses of global developmental delay, macrocephaly, and a genetic defect. She is at dramatically increased risk for aneurysms, strokes, hemorrhages, and eye conditions, along with a host of other scary sounding terms. We have been told she will never be allowed to play contact sports, and we need to try to prevent her from receiving any head trauma. Our process as her parents will be learning to let her live as normally as possible, without wrapping her in a huge bubble! Any advice on that will be graciously welcomed! We plan to focus on the Emma -cans, rather than the Emma-can'ts, but we are still learning, and are certain that the list of cans will become long with time!

On January 30th Emma has an appointment with an ophthalmologist, and during the first week of February she will be tested for autism spectrum disorders.

As you can imagine we are going through a whole host of emotions, and are grateful to have good friends and family to help us through this time. We hope to have more knowledge about her condition after further tests, but there is a significant chance that this will be a long term wait-and-see situation. If you are so inclined please send good vibes/prayers/juju/crossed fingers/whatever… in Emma’s general direction.

Looking forward to sharing our journey with you.

Katy and Adam