When I found out that Reese had XQ28 duplication I researched extensively just trying to find answer and hope.  Kyle actually came across the blog www.annaandessie.com and we felt like we had finally found someone who could shed some light on our journey.  My mom was the one who finally emailed Laura and asked her to email me for support. Laura is an amazing mother of 2 beautiful little girls: Anna (who has XQ28 duplication) and Essie.  I share their blog so that you may also get to know Laura, Anna and Essie.  It was during that “dark” time where I needed all the help I could get and Laura came along beside me by sharing the things that Anna does and the timing of those things. However, all children with genetic disorders may or may not progress the same but it still brings comfort to know that someone else has a story and is willing to share and encourage mommy’s like me.

So, what is Reese doing…

Puts weight in her legs
Will stand with her arms on my knees for a minute to 2 minutes
Rolls over well from back to belly, belly to back
Pushes up when on belly thru arms for seconds–working for a longer time frame
Can sit unassisted for 15-20 minutes (however, doesn’t catch herself going backwards yet)
Reaches for toys
Holds toys
Brings toy to mouth
Coos all the time
Smiles at herself in the mirror
Starting to have some separation anxiety with daddy–which we love
Eating stage 2 baby food and some stage 3

Reese Loves..

To have books read to her
Have her mommy put her to bed
Kisses and hugs from anyone
Cuddles in the morning before we do anything else–LOVE, LOVE this
Swing–her Papaw got her this swing and it’s her favorite thing to do!
Watch Baby Einstein but only for 20 minutes at a time then it’s over
Go strolling when the weather isn’t too hot

Who’s involved in Reese’s care:

Weisskopf Center – (Genetics Doctor)–yearly now unless we have questions
Pulmonologist (Lung Doctor)
Cardiologist (Heart Doctor)
Neurologist (Brain Doctor)
Pediatrician
Physical/Occupational/Speech therapists
Sproutlings–Medical Fragile Daycare
Julie Lanham–AMAZING sitter

We have been blessed with the people in our lives that provide words of encouragement and excellent care for Reese.  God’s people are good!

and my God will meet all your needs according to his riches of his glory in Christ Jesus–Philippians 4:19

Click Here for the video of Reese’s Story

Photo: http://www.lizzieloo.com/

Just a quick update. Yesterday Reese was released from the hospital, so it was only a one night stay for observation. They wanted to avoid dehydration and aspiration of her lungs. So far, her lungs are clear and she’s eating well. They sent her home on a strong 3 day regiment of steroids. She’s been on these steroids before and when she is, watch out! She has super energy, she grows more, and she eats so much we can barely keep her full. Reese has almost always slept through the night, but when she’s on steroids, she wakes up in the middle of the night for another bottle. Thankfully, we’re only on the steroids for a few days.

I’m going to try my very best to explain Reese’s chromosome disorder in technical terms. I never imagined that I would have to understand/study genetics and for the record it’s very complex! However, after having genetic counseling I feel that I have an understanding for what happened with Reese. All normal females have (2) X chromosomes and 1 of them go inactive–that did happened in Reese. [I’m using the word “normal” because it’s simply the word geneticists use] However, the problem occurred when there was a little extra X chromosome duplicated (created). That extra X chromosome than “trans located” to the number 2 chromosome. From our genetic counseling session”trans location” of a chromosome is worse than no chromosome moving around in the genetic makeup–if that makes sense. The extra X chromosome then deleted a little bit of the number 2 chromosome which actually would have not caused any issues. The issue lays with that extra X chromosome “trans locating” to another chromosome–creating XQ28 duplication.

Here is one of the medical documents on XQ28 Duplication:
http://www.rarechromo.org/information/Chromosome_X/Xq28%20duplications%20FTNW.pdf

Now, in my previous post “Rebuilding” I mentioned why I think this happened… there is a technical reason too. Reese’s genetic makeup happened during conception. There is nothing that Kyle or I did to our bodies to cause this mutation. Gosh, I hate that word–mutation but that’s the reality of truly explaining what happened. So, I’ve been asked–Can it be fixed? That question doesn’t upset me because honestly before this happened to us–I may have not really been aware of how a genetic disorder truly effects someone. The answer is NO it cannot be “fixed” but we can provide Reese with the absolute best opportunities for her to achieve her full potential.

Many have asked… what about future children! Wow, how my plans have changed. I was hoping to have my next child 18-22 months from Reese but did you noticed the sentence began with “I” not God. So, I’m not sure what God’s plans our for the Nichols’ Family but I know he will never forsake us and he is always FAITHFUL! Lamentations 3:22-23 (for his compassions never FAIL) 1 Corinthians 1:9 (God is faithful) Now some know but not many–Kyle and I had to have the genetic testing done in order to know if this could occur again in future children. This was another one of those tough things… that I just didn’t like to touch. It took me a while to actually just go get the testing done. Why? The “Unknown”–mostly the devil likes to make your mind his playground when you’re dealing with a lot of unknowns. So, I really had to put on my armor to fight this spiritual warfare that was occurring regarding the testing….

If I was the carrier… my thoughts: I caused this for my daughter (that’s heavy burden to carry), I won’t biologically have other children (that’s hard to think “you” don’t get to choose that option)… the list goes on and on but those are the two main thoughts I had…

Well, it turns out that Kyle and I are NOT carriers or have any abnormal chromosomes that caused Reese’s mutation. Yes, Praise God!

However, when I received the news yesterday… I have to be honest… tons of different emotions started to overflow my body. Yes, I’m happy but I guess I truly thought I may have been the carrier. I feel that I would have known for sure “why” it happened but actually this takes us right back to God. As I sit here and type–tears are just flowing because I know without a doubt God made Reese just the way she is… and did it for a reason. A reason that is hard for me to understand at times because I’m not amazing, I’m not strong… I am only these things thru Christ who strengthens me each day (Philippians 4:13). I so appreciate everyone’s sweet comments that I’m amazing but the truth is that I’m not–it is only thru the Holy Spirit that fills me that I can do for Reese as God wants me to do. The conclusion of how this happened in scientific world–spontaneous.

After reading several definitions for the word spontaneous–I will go with: produced by natural process.

Now, you know I asked for more information regarding future children and the statistical outcome of genetic issues. It is less than 1% that XQ28 duplication would happen. There are several test that can be done during pregnancy to determine if that child would have XQ28 duplication but we would not elect for those tests. However, when the child is born they would automatically test for XQ28 duplication with all the other normal standard testing.

There is another avenue that we have thought about/prayed about for a long time–adoption.

So, where will God lead our family–I have no idea at this time… but I do know I will give it to him and he will be our guide!

The LORD will guide you always; he will satisfy your needs in a sun-scorched land and will strengthen your frame. You will be like a well-watered garden, like a spring whose waters never fail. Isaiah 58:11

We’re in the Emergency Room at Kosairs and they’re going to admit our little one for a viral infection. She’s running a pretty good fever and is very uncomfortable. Right now they don’t think it’s pneumonia but they want to observe her and rule out all possibilities. Say some prayers! We’ll keep you updated through this blog.

Kyle
Saturday evening:  Reese has a viral infection in her lungs.  They are monitoring her–she seems to be getting better.  We are praying that she gets to come home tomorrow (Sunday, July 22nd).  We truly appreciate everyone’s prayers.

Elizabeth

Makin’ Music, Makin’ Waves

Shelbyville Amphitheater at Clear Creek Park
717 Burks Branch Road
Shelbyville, KY 40065

TOMORROW: July 21, 2012
1:30pm-11:00pm

Enjoy various local bands, with New Breed headlining the event. There will be a live and silent auction with some great items! Food, drinks and fun! ALL proceeds will go straight to Jamie Andriot for her and her family to use as needed.

Jamie sister Julie, is the amazing sitter we are so blessed to have for Reese.  Jamie’s daughter Mya is also at Julie’s during the week.  Therefore, Reese and Mya have gotten to become sweetest of friends.  Mya is just the most adorable little girl you’ll ever meet.  Jamie is an amazing mother and a beautiful woman!  If you are unable to attend this benefit I would be happy to coordinate getting your donation to the Andriot family.

Mya and Reese

At 6 months old I knew for sure something just wasn’t right with Reese’s development. Our pediatrician referred us to Associates in Pediatric Therapy for evaluations in February and that’s when my emotional roller coaster began! I begged the therapist to give me answers and they simply told me they were not an MD and we would need to see a neurologist but Reese did indeed have developmental delays. I cannot tell you the amount of time I spent on google trying to figure out what exactly was going on with Reese. Boy was that horrible…I would find something and just cry, cry and just be angry about the whole situation. We couldn’t get into see a neurologist until June and I thought I was going to drive myself crazy with the unknown. Long story short–Reese got sick February 27th and as soon as she was admitted into Kosair I begged to see a neurologist. I think they sent Dr. Puri to shut the crazy lady up–that’s ok though 🙂 Dr. Puri talked to Reese and checked her out… when he was done he had us sit down to talk to us and I almost passed out when he was telling me there were developmental delays… it just was too much coming from the doctor…. I was hoping it was something she could “grow” out of… They did all kinds of test on Reese to check for seizures, etc… at this time she doesn’t have seizures but we will be having an overnight stay in August to check again. They also did the genetic testing as Kyle explained previously….

I will never forget the night Dr. Puri called–March 23rd @ 6:30pm. I knew when I saw him calling it could not be good–what doctor calls you on a Friday evening… I remember him clearly saying “Reese’s genetic testing came back with a significant finding. She has XQ28 duplication–I’m sorry”. Have you ever had a moment where you felt like you couldn’t breathe and your body felt extremely weak–that was how I felt. I could only think of one question to ask–“Is it fatal”? Dr. Puri told us no and tried to explain it but continued to tell us it’s extremely rare in girls. That is when the breaking of my heart began…

For those that may not know me… I am what you would describe as a Type-A personality, OCD, obsessive compulsive or as one professor in graduate school said, “anal retentive”–it’s OK I know it–I’ve lived with myself for 29 years. Therefore, I had a plan and having a special needs child was not part of my plan. Have you ever felt like life has stopped and you could really careless what is going on around you… that is how I felt. I describe this part of my life very dark, sad but mostly angry with God. I would cry out to him “Why my Reesie girl, God, why?” in my car, in my bathroom, in the parking lot of Kroger, at work in my office, outside my condo… over and over I would shake my hand at God and cry out “Why my Reesie girl, God, why”? I would lay in bed some days thinking how could I possibly put my two feet on the ground and start walking–especially when my feet felt like bricks. I would let Kyle get up with Reese and take care of her while I laid in bed crying…. my heart was broken and my dreams for my family were crushed. I would go to the baby showers–run home and cry. I would go to work and come home to hold Reese and cry. I was one big crying mess! I can honestly say I know what the deepest sadness you could possible feel because I was grieving the loss of having a “normal” child. Yes, grieving.

It is when I finally ask God to put his hand on me, give me new mercy and grace everyday that my heart began to be “rebuilt”.

Now, it’s very important that you are aware that I did not get to this point on my own… O’ no… that would have NEVER happened. My husband, my mother, a best childhood friend and my two best shelbyville friends were instrumental in getting me to this point–not to mention just all the love and support I had from other family, friends and the shelbyville community. However, those 5 people saw me cry, saw my shout and just continued to pour their love and the word into me. My heart could not have been rebuilt without them.

I have people ask me, so why did this happen? I believe it happen for several reasons and some that are just not apparent yet. I believe that God had plans to mold me into the woman he wants me to become… by breaking my heart and rebuilding it according to his plans. I have learned that Reese is not my child–Reese is God’s child and a “gift” to me. God has allowed for me to have Reese and to care for her and that is such an amazing privilege. I have learned that life is not about “me” it is to glorify God. I have learned that God sees Reese McClain as perfect and whole. I truly believe the real beauty of why has yet to come… I think Reese has a story to tell and is already doing so thru smiling all the time. There are times when Reese is really sick and just smiling at the doctors–it blows their minds because you just can’t image that sweet smiley little girl is really sick.

I am not perfect–never will be but I’m starting to accept the new “normal” for Reese. As my heart is being rebuilt–amazing things are happening and the emotional roller coaster is coming to an end. I do have expectations for her but they have changed to meet Reese and not what I thought had to be met before… I now celebrate her accomplishments with her instead of being resentful to God. I speak the truth over her and pray for completely healing as God has planned. If she isn’t healed on earth–I know she will run to me when open arms in heaven and say “I love you mommy–you are my best friend” and that folks right there keeps me thanking God for the opportunity to serve him by loving my daughter just as she is…. Reese McClain is “Made in HIS image” Genesis 1:27.

The first time I ever heard the phrase “medically fragile child” was during our second week long visit at the children’s hospital. One of the doctors said it and it stuck with me. We are now parents of a medically fragile child. What’s considered normal for our friends and their children is not normal for us. Their are rules and certain steps for Reese that we must take everyday to avoid another hospital visit. She has a team of doctors and nurses who know us and her by sight when we visit the hospital. She’s part of a program at the hospital for children who visit frequently at long periods of time and face complex medical care. We have a loud oxygen machine in the middle of our home with an oxygen hose long enough to stretch to any room in the house. We travel with oxygen tanks and they must be delivered and picked up every week. We have to take tanks to her babysitter and to the grandparents homes. When their is an air quality alert, we can’t even take her outside. We had a beach vacation planned at the start of the summer and we went without her because the doctors said she couldn’t travel through this summer.

Each morning and every night she gets a breathing treatment, we use a suction machine to take out any mucus in her nose and throat, she gets 3 to 4 medicines twice a day, and then we feed. She doesn’t eat like a normal baby, an 8 ounce bottle can sometimes take her up to an hour to eat. Each night we must put a pulse/oxygen machine on her with the loudest, most dream interrupting, sit straight out of bed, alarm on earth. It lets us know if her oxygen or pulse dips below safe levels established by her doctors. My wife and I have these routines down like a science, each of us has certain responsibilities and we work together like synchronized swimmers. It’s a 2 hour process each night just to get her to sleep and for us it’s the new normal.

A fever for Reese can mean many things and teething is the most normal one but any fever will give us serious pause. Last time she had pneumonia and was hospitalized, she was a happy normal baby all day long. Around 11:30 that night, she got fussy and wouldn’t go to bed or take milk. About 12:30am she felt warm and we took her temp and it was 99.8. At that time nothing to be alarmed over. 20 minutes later she had green stuff coming out of her nose and was moaning like she was in serious pain. She felt hotter and we took her temp again, it was 103.9!!!! We didn’t blink, it was to Kosairs immediately. When we walked in the ER, her pulse/oxygen machine alarm was going nuts, we were carrying her oxygen tank and she was moaning and coughing up nasty mucus all over my shirt. The lady at the desk took one look at us and motioned us to the nurse in triage within seconds. That nurse took less than 10 seconds to listen to her lungs and said “We’re going back, I’m guessing your part of Hearts and Hands?” That is the name for the special care group at the hospital that we’re part of that assist families of medically fragile children who visit often. When we walked to the back we had 2 nurses waiting for us and a doctor walked in right behind us. It was at that moment, I realized our journey as parents will never be the same, this is our life.

It’s so easy to worry about your first child, you worry about germs, you constantly call the pediatrician’s office, and your life revolves around your child’s day. This is normal for all first time parents. I feel like Elizabeth and I are on hyper worry when it comes to Reese’s care and at times we speak another language to each other. We discuss her heart rate, how many ounces, if she took this medicine, what her oxygen level is, what milestones she’s hit today, when her next appointment is, and if we can even take her outside. It wasn’t supposed to be like this. When my wife and I were born, we both walked by nine months! We were just sure when Reese was born she would follow in Mommy’s and Daddy’s footsteps, literally. Instead, we now get excited when her physical therapist tells us she sat up on her own longer than 2 minutes or our paediatrician tells us her lungs are clear and she gained weight this month. This is our life.

It was a Friday evening around 6:30 and I’ll never forget the phone ringing and the look on my wife’s face when she answered it. It was our neurologist and he should not have been calling us for any reason. He had received her genetic tests and they turned up a serious abnormality. She has what is called XQ28 duplication syndrome. This is a rare genetic disorder for children and even more rare for girls. We’ve been told she’s 1 of around 15 known girls who have the disorder. It’s more common in boys and they have it very severe with 100% of them having mental and phyisical disorders. The known girls is a range of issues but all still have mental and physical problems. What everyone seems to experience is low muscle tone, respiratory problems, eating issues, and an overall developmental delay. All of these we have experienced in abundance and will continue too.

One of the genes that is active in XQ28 chromosome is the MECP2 gene. This is the more popular name to call her disorder. In fact, when you google MECP2 syndrome, you get all kinds of information and almost 99% of it is about boys because it’s so rare in girls. The list for boys is very disheartening but I’ll put it below.

Characteristics of MECP2 duplication in affected boys:

*Hypotonia (low muscle tone)

*As a result of hypotonia, motor development including sitting, crawling, and walking is severely delayed or impaired

*Mental retardation (in 100%)

*Recurrent respiratory infections (in 75%)

*Epilepsy (in 50%)

*Constipation and/or reflux

*Limited or absent speech

*Autistic behaviors

*Ataxia

*Progressive spasticity (usually noticed in the legs more than the arms)

*Stereotyped movements of hands
*Teeth grinding

*Developmental regression occurs in some boys

We read all of this the night of the phone call and both of us just broke down. Why God? Why? My wife ate nothing but healthy food during her pregnancy, she walked 3 to 4 miles almost everyday, and in fact, the night her labor started she had just walked 4 miles in 90 degree weather! The birth was easy, she barely needed an epidural and pushed 3 times and Reese was out. We had a miscarriage over a year earlier and had planned on waiting a while longer to try again. God had other plans but this was the big plan? He gives us the most precious gift of all that we prayed over so many times and it’s a child with this?

Mental retardation? Possible Epilepsy? Another article we read said only 50% of boys live past the age of 25! Another study of 4 girls that have it had one dying before the age of 3! This is our future? A child who will never drive a car, fall in love, go to college, and maybe never even run into our arms and tell us she loves us. For months leading up to her birth I joked about buying guns to keep boys away from her, now she’ll never have a man to love her as a wife? I will never walk her down the isle and give her away, I’ll never take her shopping for her college dorm or to buy a prom dress. At no point in my life did I ever consider this as a possibility for my child. This was other people’s problems and I always smiled and said a silent prayer when I saw children with these issues. Now these issues are our life. Where do we go from here?

Continue and read Part 3 here