Case not cracked...but maybe a little closer

Today was our first appointment with a geneticist.  Our developmental doctor referred us to a great doctor at Children’s. We went for a 9am appointment and ended up staying all day long. The morning started with the standard weight/height and common questions on Rylan’s health history. Then we spent some time with a genetic counselor who asked questions specific to our health and our family health history. She drew a pretty chart and took close notes on where we came from. We realized we might need to keep better track of our families health history because we answered a lot of questions with “um I dunno” so family we will begin interrogating you soon.

She looked him over closely and decided she wanted a few tests done. First she noticed he had a large belly, maybe swollen or maybe just Rylan. It made me laugh, any of you that knew Cece at that age would think that is just the toddler Rassy figure. We sometimes got stopped in public as people asked about Cece’s extremely large belly and normal body, what can we say our kids enjoy food.
We tried to kill time with no food or drink for Rylan, it worked for the most part. I use to not allow my kids to touch toys at the doctors or hospitals because I am a germ freak. That has since changed because desperate times call for desperate measures, now they can even play with other patience’s patient' s:)

So the first test was an ultrasound, he was thrilled. They looked at his belly good and found out the largeness is gas, must have been all those beans for breakfast.  He was a very good sport for this one, even a little peek a boo.

They did find that his liver is a little abnormal or off in texture. We are still unsure specifically what that could mean but the doctor thought it could, maybe, possibly be an answer to the Rylan case. It could link to his small size, illnesses and seizure activity. This could also be a result of his delays. I am not going into very much detail because we don’t have a lot of information. We have been referred to see a specialist in this area at Amplatz, the U of M’s new Children’s Hospital to have a second opinion, more tests and learn more about it if necessary.

After that we went to have some blood work done. Ry thought this was the low of the day. We are waiting on those results. All his previous blood tests as of today have all been negative.
We proved to Rylan that a little blood draw is not so bad when they started strapping him down to a table for some xrays. Yep, this was the new low of the day.  They took several xrays so they can see ALL his bones closely; those results have not become available.

It was a long day, it came with a possible answer but definitely not set in stone. These doctors are all stumped but certainly covering their grounds. Children’s Hospital reviews cases weekly and the doctor today let us know she wanted to bring Rylan’s case to the table similar to what they did at Gillette’s. I should mention we only hear things back if some suggestions are made so from the last Rylan case study there was no major movement.