National Institute of Health - Day 5

Friday was our last day at the NIH.  We started the day with Ethan attempting to do a swallow test.  We were not successful. Ethan has refused to eat most of the week and think some of it may be due to the fact that he was intubated during his MRI and has a sore throat etc.  From what the doctor was able to see she was SHOCKED that Ethan eats what he does based on his anatomy and tongue placement.  They have requested that we go back next Thursday for more testing.  I feel terrible, we have fought with Ethan for the last 2 years to eat and thought it was a behavior issue, he spits his food, screams, throws his food but it might actually be a physical problem. 

From there we went over to photography - they took pictures of his features that are considered "different" like his ears, feet, hands, face and scrotum. 

After that we had a 3 hour session with a Child Psychologist which was very educational for us!  They assessed him using different play sessions and asked us a ton of questions and we had to fill out some questionnaires.

He did get sick during the session and we had to take a break but he bounced back pretty quick. Afterwards he went and took a nice nap!  He worked very hard.

When he woke up and his Team came in and went over the results of what they have for the week. 

Nutrition - he is 97% for weight and 5% for height.  They want us to discontinue the pedisure for supplementing until his weight catches up with his height.  We will also be adjusting his diet due to his Pre Diabetic Status.

Neurology - MRI - structurally normal brain

Cardiovascular - EKG and Echocardigram were both normal

Hematologic - anemic due to low iron levels - we have started 2 x a day iron supplements

Endocrinology - HBA1C - elevated tests results but not yet considered diabetic.  Is considered pre-diabetic and will need to adjust diet and have follow up with an endocrinologist at Childrens in Richmond.  He is also being tested for MODY which is the genetic type of diabetes since both Chris and his Mom are diabetic.

Dental  - fused lower incisor teeth (this is a symptom of the main syndrome that he is being tested for)

Dermatology - doughy and redundant skin (he has had this since birth)

Ophthalmology - under anesthesia showed normal retina with a mild clouding of the cornea.

Bone Age - 2 years old.

Psychiatric - not Autistic but does have a Sensory Disorder.  We are going back next Thursday for further testing and being referred to a Pediatric Psychologist at Childrens in Richmond.

Rehab - hypermobility in the tendons, gave us some suggestions to share with his pt and are also  making him a custom swim vest so he can be independent in the pool.

It will take anywhere from 6-12 months before we have all of the tests back including the Genome study which will tell us positively if he has some of the syndromes that they think he may have.  The other kids have to go to the Pediatrician on Monday to have blood work done that will be sent to the NIH so that they can be mapped in the DNA testing.

We got home last night and he was so excited to see his Big Brother and Sisters!

There is no place like home!