Test Result Update

We received all of our test results back...FINALLY.  The official results for Marek's retina test was normal. So we now know that any problem he has with his vision is because of his Cortical Vision Impairment which is caused by his seizures.

The parent chromosome test came back as well. Marek had an extra part on his seventh chromosome so they tested Ryan and I to see if we had the same abnormality. We found out that I am actually the one that has this abnormality. The doctors feel that because I have this malformation and have not had any major health issues that this is NOT the cause of Marek's IS. We will now move forward with the Whole Genetic Exome Sequencing. We are scheduled to go see the geneticist on July 2nd, at the appointment they will draw blood from Marek, Ryan and I and send it off to test all 30,000 plus genes that are in each of our bodies. It will take close to four or five months to get the results back. The geneticist told us that we will hopefully get an answer with this sort of testing but since there are so many genes in the body that the medical field doesn't know the function of there is a possibility that we will have more questions that answers when everything is complete.

We are also moving forward with preparations to start the Ketogenic diet at the end of July. We will be taking Marek to the Keto diet clinic on July 24th where they will run the rest of his blood work and we will meet with a new neurologist who will oversee Marek's progress during the diet.

We got Marek a neck float for the pool this summer and Marek was able to use it for the first time on his first "vacation" away from Mom and Dad. He went up to my parents house to swim and get spoiled. It was very hard for me to say good bye even though it was only for two days. I cried "just a little" when he left....or maybe a lot, but with FaceTime and Video messages I felt better after a few hours. He did great in the pool.

Marek continues to work hard in therapy. We are working on his sitting and weight bearing through his arms. He is making progress, I wish it would happen a little quicker than it is but I have to keep reminding myself that he will do things when he is ready. He is still doing amazing in his stander. We are doing 15 minutes three times a day. We were going to go up on the time but he is leaning back while in the stander which is putting a lot of pressure on his heels and causing some irritation on his skin so his therapist recommended that instead of longer time periods during each sessions that we do shorter periods but more sessions a day.

Marek is adjusting to being off of steroids. He has been very irritable and sleepy without them. Poor kid has side effects on the drugs and withdraw symptoms when he is off of them. I spoke with his neurologist today and he said to give him another few days to see if his body will regulate on its own and if it doesn't he will draw blood to check his cortisol levels. Fingers crossed that his body can get back on track!!!

Thank you once again for everyone's support, love and prayers!