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!

National Institute of Health - Day 4

Another busy day but fun and we again we learned so much!

We started the day with a 3 hour diabetes test.

He did great drinking the sweet stuff!

They took his blood 4 times during the 3 hour period.

During his testing we had other visits and his nurses just came and found us to take blood.  It was great, he wasn't confined to his bed all that time!

He had an abdominal ultrasound.  Followed by a visit by the nutritionist to talk to us about his diet and changes we need to make to help keep his blood sugar in check.

Next up we had a visit of about 30 different doctors from all over the World stop by to get a look at Ethan.  Ethan had a ball.  He loved all of the attention!  In fact the Director of the Undiagnosed Disease Program picked him up and showed him off - he was in heaven!

After that we travelled over to the Eye Clinic so that the Eye Team could take a look at his eyes.  They already looked at the back of his eyes during his sedation but wanted to see how he tracked items.  While we waited for our turn, Ethan had fun playing in the kids waiting room.  This place is awesome for kids - everywhere you turn they have something to keep them entertained.

When we got back to our room we had a visit from Neurology.  They asked a lot of great questions and gave us some insight on Ethan's behavior issues.  Turns out some of his issues we are dealing with are due to a Sensory Disorder.  Makes perfect sense.  A lot of things that I have been stressed about are part of his make-up...things like the constant chewing on everything, slapping his ears, covering his eyes, freaking out in stores or at Romp n Roll when more kids show up than normal.  Tomorrow we meet with a behavioral specialist so I can't wait to learn more about ways to help him!

When we were done with that, Ethan was able to get his IV out.  I love how the nurse just got right down to his level while he was playing - he was totally not freaked out at all!

Today we finished up around 2 and we were able to come back to the Inn and take a nice long nap!  Much needed!!!

We ventured out to Whole Foods to have some dinner and Ethan had a complete meltdown, I think the really loud noises and bright lights were just too much for him after all the stimulation today.  We got our food to go and came back to the Children's Inn. 

Ethan checked his mail and got some pretty cool goodies!

We ended the night hanging out with Vi the Therapy Dog who lives here at the Children's Inn.

Playing in the elevator - which he is obsessed with by the way!

And taking a ride on a pretty cool ATV in the playroom!



National Institute of Health Day 3

We stared our day bright and early this morning!  Ethan loves taking the "bus" over to the Clinic.  You can tell that he thinks he is big stuff sitting up in the seat all by himself!

When we got to the clinic he had some blood work drawn after fasting.

After that we headed over to Rehab to meet with a Physiatrist.  I had no idea that Physical Therapy had actual Doctors!  He was a wealth of knowledge.  In fact he took one look at his AFOs and decided that they needed adjustments made.  He wears cascade AFOs, he told us they were too long and was not allowing Ethan any flexibility in his step.  He said it would be fine for High Tone kids which is opposite of what Ethan is - he is low tone.  They made some adjustments on them and this kid is almost running around now.  Crazy!!!  He is also setting us up with a Pysiatrist at Children's Hospital in Richmond to follow up with.  The PT and OT also gave us some great advice and some things to work with Ethan on.  I can't wait to share them with his Team at School.

Dr. Paul was great!  He got right up on the table and worked with Ethan!

From there we headed over to dermatology and they took at look at Ethan's skin and birth mark.  Nothing really new from that visit.

After that we headed over to Radiology and he had a scan of his left hand to tell what his bone age is.  Who knew you could that from your left hand?

We headed back to our room and met with the Endocrinology Team - all 6 of them.  We found out that Ethan's sugar level in his spinal fluid was 77.  Normal range is 44.  His fasting A1C is 5.7.  With Chris's diagnosis of Type 2 Diabetes and his Mother's Type 1 Diagnosis and Ethan's labs they told us that Ethan is considered Pre Diabetic.  They changed his schedule a bit tomorrow to do a 3 hour Diabetes test on him.  Based on what they saw on his labs today he may have a diagnosis of Type 1.  That was a bit of a curve ball.  But when it comes to Ethan, I've learned to just go with it...

They have about 6 different Genetic Syndromes that they think Ethan could have.  One of the ones that has been spoken about a couple of times this week is Aarskog Scott Syndrome.  This is the same Syndrome that the Genetic Doctor at UNC mentioned but our insurance would not pay for the test. We are having it done here, so we will know for sure.  We have been down this road before so until we know for sure I'm not doing much research...but I do know that it is not fatal and that is all I need to know right now :)

We came back to the Children's Inn and hung out in front of this warm fireplace...

I also got to facechat with the other Hams...I'm getting homesick now and am ready to be home with all the Hams!

National Institute of Health Day 2

Today was the big day of tests.  We arrived at the Clinic at 7 am and by 8 they had taken Ethan back for sedation.  This was the first time I have ever been allowed all the way back and stayed with him until he was asleep.  I can't decide if I like that or not.  Either way,  handing over your baby to doctors sucks.  No other way to put it ...

During his 5 hour sedation he had a spinal tap, skin biopsy, inner eye exam and MRI.  While he was having his procedure done, Chris and I went and they took our blood to use in the Genome study that they are doing. 

Ethan had a difficult time waking up from the anesthesia this time.  That was a first for us.

After he finally woke up we went back to our room.  After about an hour we noticed he was very pale, we found out that his iron was very low.  They decided he needed a 4 hour IV drip and some iron to help him recover quicker.

Around 4 this afternoon he started running a fever - 103.  He has had Advil and the fever has still not broken.  Although, his spirits are great tonight!  The doctors told us that some children do run a temp after sedation due to the type of drug that is used.  Propofol (yep that same stuff that Michael Jackson took).  They said if he still has it in 24 hours than we can start to think about infection...so praying that he is just having a "typical" reaction to the drug!

All in all it was a long exhausting day.  We did get to have "facetime" with the other kids which was awesome! I miss them very much.

Special thanks to Rompy tonight for taking such good care of our Sweet Ethan, he never left his side all day!

National Institute of Health - Day 1

We arrived this morning to the clinic at 7:30, we went through admissions and settled into our room in the children's unit.



We met with 4 members of our team, a Nurse Practitioner, Nurse, Genetic Doctor and Dental Resident.  They took our history and Ethan's history and did a physical on Ethan.  It it is so strange what genetic doctor's look for that we would never even think about - such as the way your hair swirls and the growth pattern of your hair swirl...strange huh?

The doctor's love to check out his "special" ear!

Next up was a blood draw - all 13 viles of it!  They will be testing it for so many different things, things I have never heard of. Ethan has had 35 other genetic tests and honestly I thought he had been tested for everything that was possible to be tested for...but I guess not!

He obviously was not a happy camper after that, but who can blame him?

 

He decided he needed a little break, so he took a nice little nap!

This is Ethan's mode of transportation at the clinic when he goes from appointment to appointment.

He loves it!

After lunch he had an EKG and Echo and did great!  They are very good here with the kids, very patient and caring.  They put his favorite Baby Einstein Movie in during his procedure and he was good to go!

We finished up at the clinic around 6 and came back over to The Children's Inn and checked his "mailbox" and he was very excited to get mail - a cool chalkboard to keep him busy!

Oh and Ethan got to see snow today, big bonus!  Tomorrow is a big day, he will be sedated for 3 hours and have a MRI, inner eye exam, skin biopsy and lumbar puncture.  It's been a while since I have had to hand my baby off to a nurse to go in for a procedure without me so I'm not looking forward to it!

















Go Go Go

Tonight I am sitting here trying to figure out how to title this post.  Ethan is laying on the bed next to me running his cars up and down Chris's legs and yelling Go Go Go.  The girls are down the hall waiting to find out who is going to be the Family Wizard and Jake is hanging with a friend. 

My heart is heavy and my contacts are all fuzzy from all the crying that I did today.  Gracie and I along with many other families, adults and children with Intellectual Disabilities/Developmental Delays sat in on the The House Appropriations Committee and Senate Finance Committee public hearings to tell them our stories of why we must End The Wait for ID/DD Medicaid Waivers in the State of VA. I was so proud of Gracie, she stood up in front of those "old men" as she called them along with two other siblings to show her support for her brother while a teenage boy told the story of his twin sister...how he worries about her and what her life will become without the state's help. 

Governor McDonnell's budget has no commitment to fund new waiver spots until July 1, 2014.  Right now 7,000 individuals with Intellectual Disability or Developmental Disability are on a waiting list just to get a waiver of those 7,000, Sweet Ethan is just 1.  3,000 of those on the waiting list are considered urgent - some examples of urgent need include living with an aging or ill caregiver, risk of homelessness and risk of abuse, neglect and exploitation.

Mothers, Fathers, Sisters, Brothers, Teachers all got up for 3 minutes each and told their story.  They told of their child being on a list for 15 or more years, they worried about how they would take care of their child once they are gone.  What will happen to them?  Institutions...well, plenty of stories were told about those institutions ...patients being beaten, staved and neglected.  Can you imagine raising your child and knowing that as you age and are no longer able to care for your adult child with a disability this is what would happen to your child? I can tell you that the answer for me is NO!

Ethan is 3 and I will start fighting now to make sure he is taken care of when I can't take care of him any longer...so as Ethan says "GO GO GO"  That is what I will do...

To learn more about our fight go here Virginia Budget Hearings.

Hello....

Long time no blog!  One of my New Years Resolutions is to blog at least once a week.  Believe it or not I use this blog to track Ethan's Medical History, we are in the process of getting ready for our first trip to the National Institute of Health in a couple of weeks.  Ethan has been accepted into the Undiagnosed Disease Program.  I have had to gather a ton of info and was able to pull a lot of it from my entries. 

My family from out of state also likes to read our blog and catch up on all the kiddos!  Here is recap of the Fall/Winter of 2011:

Jake - started 5th grade, played a fun season of football,was an Usher at my Little Sister's Wedding, Celebrated his 11th Birthday was his 2 Best Friends and Dad by going out for wings and go carting because he informed us that he is just too old for a birthday party, took his first communion and is almost as tall as me....

Gracie - started 3rd grade, was an amazing Rebel's Cheerleader,was a Junior Bridesmaid at my Little Sister's Wedding, Celebrated her 9th Birthday by having a Spa Sleepover with 13 girls, played Mary in the Christmas Eve Pageant at Church and has the most giving and loving heart of anyone I have ever met.

Anna Claire - started Pre-K, started taking Gymnastics (which she LOVES), went to her first Nascar race with her Bestie, got her first Pedicure, was a flower girl at my Little Sister's Wedding, Celebrated her 5th Birthday by having a triple birthday party with her 2 Besties and has a sassy and silly style all of her own!

Ethan- started Preschool, turned 3, continues to Love his Romp n Roll Classes, has started communicating with  more words, walking all over the place with and without his walker, took his first tractor ride and was not afraid of the loud  noise (big huge step for him) and continues to amaze us every day!

It's been an amazing year filled with tons of love and great accomplishment.  Here's hoping 2012 is even better!