17p13.3 Microduplication Syndrome

"For I know the plans I have for you," declares the LORD, "plans to prosper you and not to harm you, plans to give you hope and a future." Jeremiah 29:11

We have been clinging to this verse and many others over the past couple months as we have ridden the roller coaster that all families ride when their child is first diagnosed with a genetic disorder. In October our sweet girl was diagnosed with a genetic disorder called 
17p13.3 Microduplication Syndrome.

Over past two months as we have gone from broken hearted from reading research the lists out all the possible extra struggles Blakely may have to overcome in life to having a reassured hope that she might not have as many struggles as we thought. But I am so proud of us...Noah and me. I can honestly say that in the midst of it all, we have chosen, at all times, to consider ourselves to be unbelievable blessed to have a physically healthy and joyfully happy little girl.

God made this child just for us. And though the struggle has been real over the past few months, I have no doubt in my mind that there is more to joy to be had on this journey as Blakely's parents than there are sorrows. 

"You made all the delicate, inner parts of my body and knit me together in my mother's womb." Psalms 139:13

LONG story... 

Yep, its long, real long. But I wanted to document every step of this journey because I know that in the future I will be able to look back on it and see God's hand in it all. Honestly, I already can! Feel free to read it all or just skim or close the web browser now. But  I will tell you there are cute Blakely pictures at the bottom as your reward for reading :)

The Beginning
Although the diagnosis is newly given, this has been a road we have been traveling down for a while. Since Blakely was very young I have had this gut feeling that something was different. In fact, at her four month appointment I told Dr. Nash, "I am ok if she is going to be an IEP kid, I just need to know!" 

Around 3 months of age I started to notice that in addition to absolutely not tolerating tummy time she would also only turn her head one way. I kept telling Noah "she has torticollis." He kept saying "Turtle what?" Sure enough when I brought it up at her four month appointment Dr. Hilary agreed and recommended we look into physical therapy. I immediately called Johnson County Infant Toddler Services. JO CO ITS provides state funded services for children birth through 3 years old in the areas of speech and language, cognitive development, physical therapy and occupational therapy. All, for FREE, as mandated by the state. They are awesome! And we are blessed to have the opportunity to have the same service providers that I student taught with while getting my master's degree working with Blakley. We lOVE Mrs. Mindy and Mrs. Lori!

We began receiving service around her 6 month birthday and they did a great job of helping Blakely turn her head both ways and tolerate tummy time. We continued to receive services to help Blakely as she was delayed in meeting milestones for sitting up, crawling, and now walking. They even helped us get braces for her feet to help with her flat feet.

Shortly after Blakely's first birthday my gut feeling kept getting stronger. I began researching for answers.  At first I thought Blakely had a syndrome called "Fragile X." I shared this fear with a few close friends, including my bestie, and Blakely's Godmother, Karissa. She was a wonderful listener and supporter who kept reminding me that "fear is not of the spirit."  She and her husband Ryan have been huge supporters and prayer warriors for us through it all.
I decided to approach Dr. Nash about it at Blakely's 15 month appointment. I brought up how Blakely avoids eye contact (something I have noticed a while back), she has a prominent forehead and protruding ears, and is only saying mama, dada, and buba (should have vocabulary of 4-6 more words). She told me that fragile x is more of a boy thing (she is TOTALLY right!) but also said that if my gut feeling was that something is going on that we needed to get it checked out. Dr. Nash had her nurse Amanda (whom we love dearly as well) set us up an appointment with a developmental pediatrician. Dr. Chet Johnson is a very well know developmental pediatrician in the KC area and also a Fragile X specialist. I have read many evaluation reports he has conducted and written on children who are on my case load at school. If I got to pick which developmental pediatrician we went to based on the reports I have read from numerous developmental doctors I have come in contact with in my job, he would be the one I pick. I felt confident in getting to see him, but we had to wait 6 weeks.

Here it Comes...
Our appointment was on Sept 2nd. Within less than 10 minutes of being with Dr. Johnson he told us "I am so glad you came to see me." At this my heart sank. He told us "I don't often see kids this young because most parents don't even know that they should know something is different." He spent the next hour and a half asking lots of questions, observing Blakely, pointing out things he sees that he likes, and also sharing things that he saw that were discrepant from children the same age as Blakely. I asked him to be very honest with us and not hold anything back, I needed to know what he was thinking and where he was heading. 
He asked "Do you have any plans for expanding your family?" This cued me in that he was thinking this was a genetic "disorder." I answered him very frankly..."We know we will eventually have more children, but as to how we go about that, whether it is naturally or through foster care/adoption hinges greatly upon the information you shares with us.” He just smiled and nodded. 
I point blank asked him about Fragile X and he did not deny it but said without a blood test he could not confirm it. I also asked him about Autism and he said he couldn't deny it but didn't instantly think so. 
At the end of the appointment he gave us his "impression" and a list of recommendations.

Impression:
That Blakely has global developmental delays. This means she is 25% or more delayed in two or more of the 4 developmental domains. In fact, Blakely is 25% delayed in all four areas. At 16 months, she is functioning like a 12 month old in all areas.
We left this appointment feeling very sad but ready to help our child in any and every way possible. I have spent the past three years of my career advocating for other people's children with special needs, Lord have mercy on anyone who gets in my way as I do what I feel is best for my own girl :)
The next morning I instantly called our Dr Office and spoke with our nurse to begin getting the ball rolling on Dr. Johnson's 6 recommendations.

Recommendation 1: Fragile X Blood Test
I was able to get Blakely into the Dr at 10 am the morning after our appointment to get her blood drawn for the "simple" blood test. Well this test ended up be far from "simple." I was supposed to get results within two weeks. 
Two weeks came and I received a call from Dr. Nash saying the Lab had messed up the order and we needed to bring Blakely in to get her blood drawn...again. 
I was so defeated, not only did my sweet girl have to get blood drawn again but I would have to wait another two weeks for results. Nonetheless I took Blakely back to the Dr. office immediately that day to get her blood drawn again. It gets better...
We get to the office and they start trying to take the blood but this time Blakely knew what they were doing and she flipped out. She was in my lap and I had to physically restrain her while she cried "mum, mum, mum" They tried and tried and could only get two viles of blood when they needed three. They apologized and told me to go immediately to children's mercy where a specialist could draw the blood. So now, she has had a total of 5 viles of blood drawn and nothing to show for it.
I call Noah on his way home from work and tell him to meet us at Children's Mercy. Boy, that place is a quick reminder of how blessed we are. Physically Blakely is healthy and that is a gift from God. They quickly draw her blood, with no problems, she didn't make a peep. They told us that results would be in within two weeks.
Side Bar: On the way home from Children's Mercy Hospital Noah's car dies in the middle of the highway. Yep. we had to buy a new car. And to top it all off later that week a electrical current surged through our house during a storm and took out the mother board in our garage door opener and the whole thing had to be replaced. When it rains.... 

Recommendation #2: Get hearing check per protocol
After talking more to the people at KU Med who would be doing the full developmental evaluation they said that since we don't have any concerns that we could just have Infant Toddler Services check it. She had an appointment September 26^th with ITS to get it checked and her hearing is A OK :)

Recommendation #3: Get her vision checked
Dr. Johnson noticed she might have a lazy eye. This makes me hopping mad because I caught this last winter and spent 200 taking her to a specialist who didn't give us the time of day and told us she was fine and here I am going back again in less than a year. ITS has helped us out once again and is sending us to a different pediatric eye Dr and gave us a voucher that will allow it to be done for free! We went the middle end of September and the doctor was very thorough. Blakely has two different things going on with her eyes that we are concerned about. First, she said her right eye crosses (I caught this clear back in January). The call this left eye dominated, which means she uses her left eye more than her right, making her right eye "lazy." Dr.Grin recommend we patch her left eye to strengthen the right for 2 hours a day. The other, more serious, problem is that both of her eyes drift up and down. The doctor said her eye muscles are weak, making it hard for her eyes to stay where she needs them to for her to see. Which is why she probably didn't like tummy time because when she is on her belly her eyes drift up changing her vision and also why when she crawls she puts her head down because she is trying to pull her eyes back down with her head position. And I am pretty sure this prevents her from seeing the ground in her preferial vision when standing which is why she doesn't like to walk (she can't see the ground!!). We go back on November 18 to re-evaluate her eye muscle strength and decide if surgery is necessary. However, we now know that the eye muscle strength issue is very typical of children with 17 p13.3 microduplication syndrome and I for see surgery in our near future. 



we rock that patch very stylishly every morning! 



Recommendation #4: Full Development Evaluation at KU Med

Children’s Mercy’s waiting list for this kind of evaluation is a year out, which is flipping ridiculous. KU Med's is a few months long as well. This has been DRAMA in scheduling. In fact, at one point the secretary at the office at KU Med told me that she didn't think we needed an appointment because we had already seen Dr. Johnson in a consult appointment. I told her that confused me because he recommended it and I take seriously what a Dr recommends. Well, the next day I received an voice mail from Dr. Johnson and he said that when he asked the secretary if we had called she told him we had questions about why the full evaluation was necessary, he then went on to share why it was so important. Uh what? She is the one questioning it, not me, I was ready to make an appointment. Needless to say I was hot like lava and called him back and told him the situation and I am pretty sure she was spoken to. Like I said, don't get in my way! However, after filling out like 15 pages of paperwork necessary before making an appointment I was told the middle of September that I would be receiving a call in October to schedule an appointment that would more than likely be in February. Well its November and I haven't been called despite my follow up emails and calls. So no appointment yet :(

Recommendation #5: Receive more JO CO ITS Services
 Blakely's IFSP (infant IEP) was up for evaluation in October and we just rewrote it to include new goals focusing not only on gross motor skills but also other learning and communicating skills. I feel really good about her goals and progress. We truly have two of the best service providers! I student taught with them and know them well. They do not only fabulous job of helping Blakely but also supporting me, knowing what I need as a mommy who is also a special education teacher.

TEST RESULTS:
Well, we wait the additional two weeks and the results from Blakely's genetic testing came back that she does not have a genetic disorder. I was very hesistant and didn't know if I believed it. I just knew it my gut that something was going on.  We spent the next two weeks convincing ourselves that everything was ok. When we were finally starting to believe it we receieved a call that a more detailed lab came back and it showed that Blakely does indeed have a genetic disorder. We were heartbroken. We instantly began do research on the internet. Which can be a good or a bad thing :) Blakely's disorder is so rare that it is hard to get enough participants in a case study to show results that are informative and helpful. What we did know is that Blakely has the most "mild" form of the duplication, hince the word MICRO in the syndrome and both Noah and I needed to get tested to see if this was a genetic disorder she inherited or if it happened "du nuvo" which means at conception. Noah and instantly got tested but of course we had to wait forever for results. The results came back three weeks later and confirmed that Blakely's disorder was paternally inherited. All we knew at this point was there was some kind of genetic marker on Noah's 17th chromosome that was passed to Blakely and caused her disorder.

THE LAST RECOMMENDATION: Genetic Counseling 
Originally we were going to hold off but given our latest information that this indeed genetically inherited we decided that this is probably a good choice. We went November 6th.
It went really well. The counselor elaborated on all our test results, answered the all questions that we asked and just took the time to listen and really showed a genuine amount of care. I could tell she really did her researched and spent hours preparing for our appointment. 
In a nutshell she told us that Noah's and Blakely's tests revealed that they have the exact same microduplication. Her exact words "There is nothing in Blakely's genetic makeup that leads us to believe you can't have the hope that she will turn out to be the same as Noah....a fully functionally adult.
I just cried and cried. God is so faithful. From the moment I knew I was going to marry Noah I have prayed our children would be like him....kind, loving, devoted, Godly, hardworking, skinny :) And she is. Blakely is her daddy right down to her DNA. I choose to see this as a blessing. 
It doesn't mean all her struggles are going away and she won't ever have any of the other struggles that we read about in all of the research we did. Just like strep throat can effect people in different ways, so can genetic disorders and just because they have the exact same thing, Blakely could exhibit things that Noah never had. But, this was honestly, just the breath of hope and assurance that we needed. Our daughter's future is in God's hand....may his will be done.

17 P 13.3 Microduplication Syndrome
So you may be asking what exactly is it? Pretty much it means that on Blakely and Noah's 17th chromosome, one of the short arms that has genes on it is duplicated. 15 different genes are effected by this. We are grateful that many of the genes on 17 that can effect organs and cause serious health and development issues were avoided. However, much of the research talks about things Blakely has been struggling with such as acid reflux, vision issues, gross motor delays. It is helpful to have answers as to why and to now have the assurance that Noah has the same disorder is a wonderful fully functional adult, giving us the hope that Blakely can be too. We do know that some children with this disorder have cognitive struggles requiring additional help at school but unlike the other three forms of duplications that are possible, we do know that they tend to be less severe and less likely. God is faithful and all though this road may not always be easy, he will be with us and he is the true author and creator of Blakely's story, not this syndrome!

It is WELLS With Our Soul
One thing I have learned through out this is to celebrate and dwell in the mountaintop times and in the valleys, set your eyes above and in all times pray...pray...pray...pray!
I am thankful that Blakely has an amazing support system. Starting with Noah, he is so protective and optimistic. Blakely is and always will be the most perfect little girl in his eyes. And He knows how to take care of Blakely's mommy too. He knows when to hug me and when to just leave me be, when to say something and when to just keep his mouth shut. He prays each and every night for God's protection and guidance over Blakely.

ITS (infant toddler services) have been amazing. They have helped us receive services that money would otherwise not permit and helped us make connections so Blakely can receive the up most quality of care.
Blakely’s babysitter, Mrs. Chrystal has been an amazing pillar of support and ear to listen. She has walked a very similar road with her own child before and is a reminder that there is hope at the end of this tunnel. 

Our family, close friends, church, and Sunflower Elementary have showered us with love and prayers yet at the same time understood we need our space as we process this.

God is Good, his love never ends. I don’t believe in the saying “God never gives you more than you can handle.” Because I honestly believe that at times he does give us more than we can handle. But he will never leave us or forsake us, through HIS strength we can make it.

Blakely Mae Wells....you are the most perfect gift from God. I know without a doubt that through you God will do great things.

I prayed for this child, and the Lord has granted me what I asked of him. 1 Samuel 1:27

This I declare about the Lord: He alone is my refuge, my place of safety;
he is my God, and I trust him.  Psalms 91:2

The steadfast love of the Lord never ceases, his mercies never come to an end. They are new every morning. Great is Thy faithfulness. Lamentations 3:22

Do not be anxious about anything. Pray about everything. Make your request known to God and he will grant you a peace that transcends all understanding. Philippians 4:6

For God so loved the world that he gave his one and only son. That whosever believes in him will not perish but have everlasting life. John 3:16

Jesus said, "Let the little children come to me, and do not hinder them, for the kingdom of heaven belongs to such as these." Matthew 19:14

Trust in the Lord with all your heart, soul and mind and lean not on your own understanding. In all thy ways acknowledge him and he will direct thy path. Proverbs 3:5-6 

Every good and perfect gift is from above, coming down from the Father of the heavenly lights, who does not change like shifting shadows. James 1:17