Doctor's Appointment and a trip to Holland...and Italy

A lot of people have been asking how Tyley Sue's appointment went last week. I've given most people the generic answer of "it's good, nothing new though". Given the fact that so many have poured into our family through this journey with prayer and encouragement I decided to give you the low down on the appointment.

1. Her head hasn't grown anymore. It hasn't grown since she was a year and a half old. Now she's three years and 8 months old. So, this lets us know that there's not been any more brain growth since then. This also explains why her progress is painfully slow.

2. We discussed her constant activity and how it's difficult for her to be able to focus during therapy sessions, at school, at home, anywhere for that matter. If you've been around Tyley Sue much at all you know she is in constant motion. Running, jumping, clapping, flapping her arms, kicking her feet, twiddling with your shirt, jewelry, whatever she can get her hands on. At this appointment, Dr. Han even noticed how high her activity level was. So, we are looking into trying some new medications to slow her down a bit. Hopefully this will improve her ability to focus and get the most out of her therapy sessions.

Dr. Han also mentioned that it wasn't something she had previously thought much about, but the mice that she involves in her research that are missing the BDNF gene that Tyley Sue is missing, are also in constant motion. They are very hyper active. So the theory of "ADHD" may not be the case, instead the hyper activity may be a symptom of the missing gene. She's curious to see how Tyley Sue responds to the medication though and it's something she will begin to study more herself. So, there's a positive, if nothing else, Tyley Sue is in the forefront of modern medicine, making history and driving the research :)

3. I asked about one of the most worrisome things for me, potty training. Of course a year ago Dr. Han told us that this would be a possibility, but it would take longer. During this visit, Dr. Han confirmed that the other children she sees with similar deletions do not potty train until at least around age 9. These are the children that aren't on the autism spectrum (Tyley Sue is) and that aren't considered ADHD (Tyley Sue is). The children who also fall on the spectrum and are battling ADHD sometimes don't potty train until much later if ever. I'm hopeful that we will be potty trained one day, but if not, I'll just keep on changing diapers.

4. Communication was the other thing we discussed. I was curious as to how the other children with similar deletions were able to communicate. The answer was pretty much the same as the potty training; some communicate on a basic level closer to the age of 9 or 10, while others struggle even longer with their ability to communicate needs.

Overall, the prognosis hasn't changed much...I had allowed myself to become more hopeful prior to this visit about the idea of potty training and communication; however now I feel like I need to redirect my focus and rejoice on the small strides of progress we've made and realize that we will probably only make small strides at a time, with some of the major goals being very long term goals. 

After this appointment I was scrolling through Facebook when I read the status of someone who was wishing that their little one, about the same age as Tyley Sue, would just ask and talk about normal things instead of some really big, adult questions. I said out loud to no one in particular, 
"Yeah, well just be thankful they can talk and tell you what they are thinking or what they need." Tyler asked me what I was talking about and I explained to him what I had just read. He smiled and said, "Ashley, just remember, we are in Holland and they are in Italy. They can't possibly understand."

We say that often around here, referencing the story below...

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met. It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.


So, yes, on occasion when people brag about their kids, or when they do the opposite and they complain about how much they talk, or how busy they are with sports and homework, I have a moment of jealousy. Tyler is always there to remind me though that I can't compare Holland to Italy. They are both wonderful places. They both have so much to offer. They both are unique and special. They are just DIFFERENT. Luckily, God decided to let me go to Holland with Tyley Sue and Italy with Elijah. When I stop and see if from a different perspective, it's not that bad. It doesn't mean that the pain goes away completely, or that the hope for her progress goes away, it just means that I have to choose peace, contentment, and joy right where God has us. It means that God's plan for our family will cover multiple opportunities to serve Him and glorify His name between Holland and Italy.

A picture with Dr. Han from our appointment at Le Bonheur last week. 

Sweet boy....my handsome version of Italy

Sweet Sue Sue....My beautiful version of Holland

One year later...

I thought about this right at the turn of the new year; the fact that a year has passed since Tyley Sue was diagnosed with the 11p14.1 deletion. This morning I drove to work, like I do every day, and I passed by the service road that I turned off on about a year ago when Dr. Han called me. Dr. Han is the doctor from NIH that was able to really answer our questions, she's the one working on a cure, and she's the one with the brains of the operation for us! She called me about a year ago right after I left work. When I got the call I was just about to hit the interstate, and instead, I turned off on a service road and parked in a hotel parking lot. I thought it would be a quick talk, but I sat there for over an hour while she poured knowledge into me and allowed me to ask all the questions I wanted. She was extremely patient and kind as she broke some of the most heart breaking news to me. At the end of our conversation, she invited us to come to the NIH for testing so she could further confirm some things for us.

Once we ended our conversation, I continued to sit in that hotel parking lot and I cried. I was so scared and there was so much unknown ahead, but at the same time, I knew enough to completely wreck my world.  So, today, as I passed that service road, a little deja vu hit me. I felt a tinge of sadness as tears welled up in my eyes.

A year has passed, and not much has changed in regards to Tyley Sue's progression. Now, please don't think I take for granted the small advances she has made, because I most certainly do not. Looking back over the past year here are some of the things that she's gained. She is using her PECS book to communicate some. It's very helpful and I think gives her a great sense of accomplishment when she's able to effectively communicate her needs to us. She is now sleeping wonderfully thanks to a weighted blanket and some essential oils. She loves going to school and I think her attention span has improved as a result of it. She does seem to follow some of our instructions better.

As I listed those things that she's doing well at, I also can't help but think of the things she lost and never regained. Those are the things that bother me the most. She used to count to 10, alternating every other number with us, she used to say several different words like  "sassy", "what a daddy", "apple", "hey girl" and "happy". There were some others that I know I've forgotten too. I just thought she was being stubborn in the beginning and that she would say them when she wanted to, but that never happened. A year later and she still hasn't gained those words back that she used to say.

Over the past year I've watched Elijah surpass her in many ways. He feeds himself with a spoon and fork. He says "mama" "dada" "bottle" "snack" "nose" "'Lijah" "cheese" "shoes" "go" "bye bye" and "hey". He plays appropriately with his toys. There are moments where I see him easily master a task that I've pushed her on for a long time and she still can't even attempt to do it on her own.

People say you can't compare one kid to another, but it's impossible not to. It doesn't mean I love her any less or think differently of her because she can't do the things Elijah does, but it's just human nature to see the two and compare. Tyley Sue is unique and Elijah is unique, each in their own ways.

I've tried to think of how things have changed for Tyler and I over the past year. I think we've both come to terms more with how our life is different from our friends and families lives. We know there are limits to what we can and can't do with Tyley Sue. We've learned how to really enjoy the small advances and how to enjoy Elijah's growth without feeling sad for Tyley Sue or ourselves. I love seeing Elijah progress and learn. It's a whole new experience for me. We've also learned that some people can say some really hurtful things, but the people that love and care and encourage far outweigh the few negative comments over this past year.  We have moments where we still question the future and wonder what it holds for Tyley Sue and us all. I still have moments of paralyzing fear over the "what ifs" of her diagnosis since we don't know anyone else with this. But, I have many more moments of peace and acceptance while I try to just worry with today and not the tomorrows.

Life sure has changed from January 2014 to January 2015. We are starting this year off with an appointment this Friday to see Dr. Han again. She's moved from the NIH in Maryland to LeBonheur in Memphis, TN which is a huge blessing for us! So, we will head to Memphis 6 am this Friday to
meet with Dr. Han and discuss Tyley Sue's current status and see if there are any suggestions for us. I'm also curious to know how the research is going on her end and with the team at the NIH. I would ask that you all continue to lift our family up in prayer. We will also be going back to the cardiologist in a couple of months to check back on that abnormality with her heart and see if anything has changed there.

I've said it before and I will say it again; I will be forever thankful that God saw fit for me to be the mother to Tyley Sue. Knowing he orchestrated her birth with another woman and lined things up just right so Tyler and I would become her parents still amazes me. Tyley Sue is literally one in a million and we have been allowed to be a part of this story. He's used us to minister to others and I'm still able to share our story with new people. I pray that He will continue to use us to reach out to others and allow us opportunities to share what He's done and what He's doing in our lives!