It's a whole new day!

Last night as I was brushing my teeth before heading to Blake's vocal music program, I received a call from Dr. Hughes.

...Let's back up...a few months ago my mom told me to be sure to watch the episode of Extreme Makeover Home Edition. I was busy and didn't even get the message until it was over. Mom and her friend Diane really wanted me to watch it specifically because of the little boy who was in the family. He had Prader-Willi Syndrome. The next day Scott sent me a link about the syndrome and we both agreed it wasn't Eli. However, it did prompt me to search a bit further. I found a hypotonia center in Maryland at John's Hopkins. I sent that to Scott. It noted that there are over 400 syndromes where hypotonia is a characteristic. Scott read many of the syndrome descriptions and found one that sounded like Eli. 22Q13 was the name. I crafted an email to send to Dr. Hughes and Dr. Brown to ask them to find out more and specifically to direct us regarding the specific tests required to determine if Eli in fact has this syndrome. After a few weeks and a visit to Dr. Hughes (I think this was just after school started in August), we received a call from the genetics department at Children's Mercy. A week or so later we received an official order for a blood draw. The Friday after Thanksgiving we went to Children's Mercy South to have Eli's blood drawn for these tests. Now we are back to last night...

Dr. Hughes told me that the test results were in. They showed that Eli doesn't have 22Q13, but that he has Pitt Hopkins Syndrome. I had to leave after the phone call to get to the music program so though I wanted to head directly to my computer, I didn't. However, while waiting for the program to begin, I looked it up on my phone. There are many sites that talk about the definition of the syndrome, but the one I have found most comprehensive is http://www.pitthopkins.org/ This is a website started by 2 moms of boys with PTHS. It is a family network. I have submitted a membership application and was approved.

I think I will start at today and each time I post I will also write about something I have learned while on this journey. I am pasting in an excerpt from the message I delivered to the ladies of our church in May 2007. I will post a bit each time...no one wants to read my whole 'book' in one blog post.

Lighthouse Baptist Church Mother/Daughter banquet May 2007
In keeping with the theme, I will first confess that I am not an athlete. I do admire those who participate in team sports and exercise regularly with great joy, but I am not part of that group. I can’t tell you, beyond the obvious, what is required to win a race. I don’t know how to break down the elements of a training program to even run a race. However, I can tell you about endurance, strength and victory through Jesus Christ.

-I inserted some updates throughout to bring this to present day -Just before my 40th birthday on July 30, 2010, I started walking more consistently. It is December now and I get up 3 X per week to work out at 6AM. I can now run over 1 mile!!! This is a huge accomplishment for me. Per the above, 3 years ago I knew nothing about running a race. Now I am training for one. My goal is to run 3.25 miles in less than 30 minutes. I am doing what I never even imagined I would want to do and I love it. If I didn’t I would NEVER get up at 6AM to go do it.

My name is Amy Adamson and I am 37 years old (now 40 years old). I am your typical first born, type A personality. I have always set goals and achieved most of them. I graduated high school, went to Kansas State University, graduated in four years, got my first position with Sprint before I graduated, moved to KC, bought a car, bought a house, got married, had a child, built a house in the country, had another child…life was working out just as I had planned! Of course there were some bumps along the way; there were jobs I applied for and didn’t get, my husbands career changed from roofing contractor to computer genius (which was accompanied by a student loan and some serious anxiety), your basic dose of ‘marriage is not quite as easy as I thought it would be’ and oh…my second child has an undiagnosed developmental delay that has changed my world!

I have been married to my husband, Scott, for 11 (14) years. Scott and I both come from middle class Christian homes and we have known each other since high school. We are Missouri kids from Jefferson City. We have two children, Blake, who is 9 (12) and Eli is 4 (7). I have worked for Sprint for nearly 16 (19) years.

Scott and I were married in November of 1996 and in April of 1998 we found out that we were going to have our first child. Although I was a bit nervous, I had an overwhelming since of gratitude. I prayed for my unborn child and thanked God over and over for giving us the opportunity to raise one of His children. I feel compelled to mention that having Blake molded me into a more calm and patient person than I ever imagined possible. He brought a joy to my life that could never have been explained to me in words. All the moms in the room…you know what I mean. My heart grew so much that it often seemed it was beating outside my chest.

Many things transpired over the next few years, including our move to Baldwin City in May 2002 to our new home in the woods. Remember, we are Missouri kids living in Kansas…we NEEDED trees!! A dream had been fulfilled.

In addition to wanting to get out of the city, another motivator for the move was to have more space to bring another child into our home. On June 27th, 2003, Elijah James was born. Aside from the challenges that all new and growing families go through, we knew we were very blessed.

It was at Blake’s 5th birthday party in December 2003 that we realized things weren’t quite right with Eli. He was 6 months old and still wasn’t sitting up on his own. After a few more visits to our family doctor we were referred to two different neurologists, one at KU Med and the other at Children’s Mercy. We saw them both. Ultimately, there only conclusion was that Eli is hypotonic, which means he has low muscle tone.

I had never even heard of Hypotonia. Hypotonia involves decreased muscle tone. Infants with hypotonia seem floppy and feel like a "rag doll". Hypotonic infants rest with their elbows and knees loosely extended, while infants with normal tone tend to have flexed elbows and knees. Head control may be poor or absent in the floppy infant with the head falling to the side, backward, or forward. Infants with normal tone can be lifted with the parent's hands placed under the armpits, while hypotonic infants tend to slip between the hands as the infant's arms rise unresistingly upward.

The doctors couldn’t tell us why Eli was hypotonic or give any diagnosis. I am sure you can understand how news of this nature would impact a parent. There is something wrong with my child, no one can tell me what caused it or what we can expect. They said, “The possibility exists that he will grow out of it, so just keep doing what you are doing.” In addition to enrolling Eli in the Douglas County Infant/Toddler services which allowed us to work with a Physical Therapist, an Occupational Therapist, a Speech Therapist, a dietitian and an Early Childhood development teacher, I think I held my breath for the next 16 months. After much prayer and begging the Lord for a miracle, I decided I had better quit holding my breath. I realized that God did not just choose me to be Eli’s mom, but He chose Eli to be MY son. I realized that there were probably some lessons I should be learning through this experience.


More later...was going to load some pictures...but couldn't get it to work...will try again later