The Diagnosis: 7q11.23 Duplication

The diagnosis of 7q11.23 duplication was a relief but was coupled with severe anxiety, deep seeded guilt, anger, and grief. It was a relief to finally know it wasn’t all caused by my lack of parenting skills and inability to follow advice. It was a relief to know that we could now know what to expect, to an extent, and form an action plan. But, the grief that is coupled with a diagnosis is something no one ever tells you. As a first time mom, the grief came in a great engulfing wave.

I remember sitting in church, the Sunday after the doctor called and before our Monday appointment and sobbing. I’m sure some in church that day rolled their eyes because they told me as much later. I was surprised to hear from friends that I was making a big deal out of nothing. In fact, I still hear it, today. But, if you ever want to know your true friends, then announce a rare diagnosis. The true friends will come to your side and love you and pray with you and encourage you. The others will distance themselves. True love shows up in desperate times.

I sat in church by myself. My son was in the nursery and my husband worked nights and weekends. He wasn’t around much. So, every Sunday, I sat by myself in church with friends on either side. I may have been by myself but I was never alone. On this day, they wrapped their arms around me while I sobbed. I sobbed because motherhood was never going to be the same. Motherhood was never going to be as I imagined it. I sobbed because my child wasn’t perfect. I sobbed for fear of the unknown.

It would take me years, literally years, to work through my grief. No one tells you that grief accompanies a diagnosis, whether it is a deadly diagnosis or not. You carry it with you when you go to the pharmacy to refill more meds than most senior citizens. You carry it with you when you attend therapy sessions 4 hours a week, and when you spend hours on the phone with the insurance company to get them to cover those therapy sessions. The grief is not allowed because you “should be happy that your child isn’t dying.” (Yes, that has actually been said to me.) But in truth something did die: The death of all that was dreamt during nine months (8 months and 1 week for me) of pregnancy. The dreams of motherhood died.

A occupational therapist gave me permission to grieve. She traveled the road herself and explained that dismissing the pain does not lessen it. It is still there. She gave me permission to acknowledge the grief and anger.

Motherhood takes on a new challenge with a diagnosis. It takes on a new definition. I was relieved that with a diagnosis we could follow through with therapies, in hope of achieving a normal life one day. But, I was angry that while friends were at the park, we were at therapy. I was still asking God why. Why of all the people did I have to be the one to experience the life of a special needs mom? There were others more qualified. Why me?

It was me because I had the luck of the draw. The dupe is a fluke of nature. Unlike so many other genetic disorders, this one isn’t caused by anything other than confused t-cells who line up incorrectly. One ends up behind another creating a duplication when he should have been somewhere else in line. I like to demonstrate it by clasping my fingers together with the fingers of one hand intertwining with the fingers of the other. This is how it should be. Your fingers should perfectly intertwined. But, the duplication is as if you have two fingers from the left hand in the same space on the right hand.

The question of why still lingered until I realized that we are in a fallen world. The world has been in a decline since the beginning. Genetics are no different than anything else on this earth. They are in decline as well. I can take the blame for my child’s genetic disorder, or I can realize that it is like the difference between a RED Indian Paint Brush flower and a PINK Indian Paint Brush flower. There is nothing wrong with the pink flower. It looks different, but for some reason it has a different gene making it a different color. It is just part of nature. Our genetics are the same way. It is just part of nature. We are fallen beings with imperfect bodies and imperfect genes. We are full of sin and in need of grace and love. Children with genetic disorders aren’t any different than that pink flower and not any different than the rest of us. They are in need of grace and love. I consider myself blessed to be able to give grace and love to imperfect being.

The Climb

Within two months, which is a miracle to say the least, we were in to see both, the developmental pediatrician and the geneticist. We saw the developmental pediatrician first and learned a lot. The appointment was two hours and the most exhausting doctor’s appointment I have ever been too, except for the follow up appointments which were just as grueling. She tested and tested and found what I already knew. He wasn’t anywhere he needed to be developmentally. She immediately said we needed to see a geneticist which we were already seeing just the next week. She ordered us to bring back the test results and anything else the geneticist could send over and come see her again in another month or two.

 The geneticist was an incredible doctor. She sat down with us and explained what she needed. She needed a long, long list of family medical history. I started digging immediately and talked to family members that I hadn’t spoken to in years. I put together a history that would shock a genealogist. The problem with family medical history is that no one wants to admit they have a medical history. If you know you have diabetes in the family, then you have to eat right long before it becomes a factor. I found out that I have diabetes in the family and am determined to give it a run for its money.

With family history in hand, we sat down with the geneticist for several hours. It was close to three hours when we left her office with orders for blood work. You would think the easy part would be the blood work but it wasn’t. Apparently along with no growth, we were also dealing with dehydration. We went to three different places to have blood drawn and finally ended up at Children’s Pediatric Hospital where the nurse took blood from the only place she could, his head. I cried. He didn’t.

Only a special needs parent knows the relief of test results, it is odd to explain the feeling that comes with knowing what you are dealing with. The geneticist called on a Friday afternoon with a string of letters and numbers and a website. She made us an appointment for Monday and told us to google and research what we could on 7q11.23 duplication. She gave us one medical website with a synopsis to get us started. That, may I say, was one of the longest weekends of my life!

There was very little out there about 7q11.23 duplication, but that as the geneticist explained was because it is 1 in 100,000. It is less than that when one of the parents carries the gene, but we didn’t. She tested us to make sure. Neither my husband nor I had the gene. My son was a “de novo” case or first of its kind (in our family, anyway). There were others out there with the dupe but it would be a while before we found them. The geneticist sent us away with one and only one study published about the dupe with a promise to keep looking. The discovery of this micro-duplication was in 2005. The first study was published a year or two later. This was 2009. The next big breakthrough study wouldn’t come till 2010. The initial study was of one child with the dupe. He had seizures and disabilities both mental and physical, and he had a severe speech delay and low muscle tone.

We took what we had and ran with it. We saw every specialist except the podiatrist. We ruled out every physical health issue that was in the study. It was on a visit to the cardiologist to rule out any heart issues that God encouraged us with the testimony of someone who had walked a path so similar to ours. She was the cardiologist! She explained that she had numerous delays and health issues because of an illness her mother had while pregnant. As a result, her speech was slow and choppy. She was small in stature and explained that she had very poor balance. But, she didn’t let any of that stop her. She rode bikes and snow skied. And, she went to medical school. She said she always had to work twice as hard as any of her class mates. She had to study more and take more time on her tests. But, here she sat a pediatric cardiologist. She explained that she never had good balance but that didn’t stop her from learning to ride bikes and snow ski. She said she fell a lot more than everyone else, but she just gets back up and keeps going.

My husband and I sat in the car letting her words soak in. She sent us away never to return. There was no heart problem, but her words resonated with us. Of all the doctors and all the diagnoses and all the treatment plans, that visit on that day with that cardiologist will be the most memorable. God had spoken through a small woman words of encouragement that to this day get me through the tough challenges. God was in it! God was in our visits to so many specialists but especially that one. After all our visits and evaluations, we determined we were on the better end of the duplication spectrum. He had anemia, acid reflux and constipation from low muscle tone, severely delayed speech, and delayed fine and gross motor skills. We wouldn’t know about seizures until they showed up. We had to wait it out till he was 5 years old. If he didn’t have seizures by 5 then we could consider ourselves seizure-free.

Tomorrow: Part 3, The Diagnosis

The Beginning

My son will be six years old in a week. I thought it would be a good time to recap for new readers. Thanks for reading!

I really began to wonder if there was something larger going on with my son when he was 2 months old. By that point we had been through a lot, he and I. He had acid reflux, constipation, struggled to nurse, never slept—And by never I mean our nights were from 11pm to 2am. Then he proceeded to cry from 2am to 6 am. He didn’t nap. We just had moments of no crying where we would relax and breathe for a little bit.

But at that 2 month well-baby appointment, the doctor read down the list of milestones for that age, and for each milestone I answered, “No.” No. No. No. All the way down the list. I chalked it up to the fact that he was born three weeks early and might be behind developmentally by that length of time. I told my mom about the appointment, and we talked about it. I said, “I need to keep an eye on his milestones. It could be that he’s just behind because he was three weeks early or it could be something bigger.” My mom, the ever encourager, agreed.

 At his next well-baby, I answered a joyful yes to the first milestone on the list and no to all the rest. I pulled up the milestone chart for myself and could see we weren’t making any progress. By this point, I was getting a lot of advice from family, friends, and even perfect strangers. His six month well-baby wasn’t much different from all the others. The doctor warned me to keep an eye on him while he was on the changing table as he would be rolling all over the place, and I didn’t want him to roll off the table. That wasn’t anything new to me. While this was my first time experiencing motherhood, it was not my first time to change diapers, feed baby food, table food, and even potty train. My youngest siblings were 11 and 14 years younger than me. I was not completely inexperienced. But, experience told me something was wrong when at 7 months he wasn’t rolling over in either direction, nor was he rolling or moving at 8 months or 9 months. He was also losing weight. By this point I was adding formula to his breast feedings but to no avail. We paid $80 a month to weigh him at the doctor and have them tell us to feed him more. I fed him every chance I got. He threw it up every chance he got. The acid reflux was just getting the best of him.

I decided to take matters into my own hands when he was 9 months old. I started working with him and literally taught him how to roll over from his stomach to his back. He thought that was the greatest thing ever. It took a month for his little muscles to strengthen enough for him to do it on his own. At ten months, he was barely sitting up, and I balanced him all around with pillows to help strengthen his core muscles. I did little sit ups with him till he was too tired to continue. We still didn’t sleep. He was still losing weight. I was still getting lots and lots of advice. Advice sounded like this, “If you would do this, you wouldn’t have that problem,” they would say. I began to think that while I was the oldest of my family with experience, I certainly wasn’t cut out for motherhood. Somehow, God had made a very big mistake. Hadn’t he known that I couldn’t handle raising a child. And, where was He in all this? It certainly didn’t make sense that children who are born perfect with ten fingers and ten toes, could possibly have as many health issues and problems as my son. But, God was there! He was in it all! More about that later, but for now, just trust me when I say God was in it and had a greater plan.

At his 12 month well-baby appointment, I voiced my fears to our pediatrician. At this appointment not he had only met one or two milestones, and he had had two eye surgeries, was on various medications for the reflux and constipation, and now we added no growth since he was 9 months old, and no reflexes at all. You know the little knee tap that makes the knee jump. His didn’t do that. He had none—No reflexes. My baby was almost 1 year old and wear 6-9 month clothing. He had long since dropped off the percentile chart.

“Could there be a bigger picture?” I asked the doctor. “There are so many different issues in different areas and different systems of his body that it just seems like we are missing something. It seems like there is a bigger picture that connects all the dots.” I remember saying that like it was 5 minutes ago. Those words rang in my ears as I spoke them. In an odd way, they were like church bells ringing. There was just no way to miss those words. The doctor agreed and handed me two business cards. One was for a geneticist and the other was for a developmental pediatrician. I had never heard of either one and didn’t even know what to expect. But, as I accepted those cards it was the beginning. It was the beginning of climbing what seemed like Mount Everest.

The Homeschool Debate

I accidentally unleashed a firestorm debate on Facebook by simply asking for homeschool information from my homeschooling friends. I was merely soliciting information from them to add to our decision making process. Instead of receiving said advice, I started a debate of homeschool versus public school and socialization versus the lack thereof.

The debate between homeschool and public school has been taking place for longer than I even know. The debate points have changed little while both homeschool and public school have changed greatly!

I have my own opinions on this debate. First, may I point out that I am a product of homeschool. I hold two bachelor degrees, graduated Magna Cum Laude from a public university, and taught in the public school system.

I graduated from homeschool in November of 1994, a semester early. When I graduated, state law did not yet allow (or perhaps had just allowed. I can't remember the exact timeline) homeschoolers to simply graduate. We had to have a GED or a degree from a correspondence school. So, my high school diploma is a GED which I passed with flying colors and had my choice of colleges to attend.

Homeschool was very different when I was in school. There were not a lot of choices as far as curriculum and very few parents continued to homeschool through high school. As I moved from middle school into high school, my friends moved from homeschool to public school. The subjects were deemed too difficult to teach at home. I was all alone my freshmen year, by my senior year, there were enough high school homeschoolers to count on two hands. Today, parents who homeschool don't even worry about high school or diplomas.

For me, geometry was a nightmare and there wasn't a curriculum that worked for me. In fact, I didn't really grasp geometry till I started gardening. Today's homeschoolers can learn Russian or even geometry without their parent's assistance through DVDs and online courses.

Homeschool has morphed into a uniquely American creation. We should all be proud of what it has become no matter where we stand on the homeschool versus public school debate.

Today, parents and students can choose a variety of ways to homeschool. There are co-ops that offer classes to all levels from pre-k to high school. Some offer these classes throughout the week and you can choose which classes to take. Others offer classes once a week and parents teach. Then there is the mix of private school and homeschool, where the student is taught in a classroom three days a week and the parent downloads assignments from the same teacher the other two days a week.

You can participate in any sport or any extracurricular function via these co-ops that you can in public school. There is football, cheerleading, sign language, music, etc. There are field trips, playdates, study groups, Bible studies, conferences (for all ages, not just the parents), and the list goes on.

The opportunities to socialize quite likely outnumber those of public school because of the flexible time schedules. Some families homeschool year round, taking a month off between semesters to visit family and friends who live out of state. Deep connections are encouraged because you must go out of your way to see your friends. You don't sit next to them everyday, so you make time to spend with them no matter where they live.

In all honesty, it does not matter which avenue of education grants the best socialization. What matters is what is best for that child's personality? Where does that child get the best education? Where will that child be best prepared to succeed in college and beyond? Where will the child find the best role models, social circles, and friends?

Each child is an individual. Each family is unique. Each school district is different. Each classroom environment is different.

While a public school classroom is perfect for your 11-year old Johnnie, it might not be right for 9-year old Susie. While a particular school district worked well for your kids, perhaps moving to a new school district found them to not be so cooperative. While the education of one school or district was above and beyond imagination and would well prepare your child for med school straight out of high school, another might not be good enough to get the same child into college. 

While one child may be an extreme extrovert and need to be surrounded by students and in a classroom, another may be an extreme introvert, overwhelmed and anxious in the classroom. While one child may choose an excellent set of friends and role models, another child might migrate toward the trouble makers.

I'm not either pro-homeschool or pro-public school. I have seen it from all angles and am now seeing it from the parent's angle. That angle is in choosing what it best for my child this year. This year it may be homeschool. Next year it may be public school. My child changes every year and so will his needs. 

Each and every family has the right to evaluate their child or children and their needs. No one knows their child like them and the entire debate of homeschool versus public school is moot, except between mom and dad. Each choice, regardless of your opinion on homeschool or public school, should be respected.

This is after all a free country. The subject of homeschool shouldn't open a firestorm of debate anymore than mentioning a child is going to public school opens a debate.No parent puts their child in any school without great consideration. That's why public schools have ratings. That's why the school district is listed on real estate information.  All parents carefully consider their child's education and those decisions are not taken lightly.

Take heed that when a parent chooses homeschool over public school, it was not without considering all the pros and cons on both sides. In the end, whether they chose one or the other, it was because they thought it was best for their child!



 

I'm Back!!

Somewhere along the way this past year, I lost my creative juices. Writing wasn't far from my mind but putting words on paper just didn't happen. I call 2011, the year from hell. There is nothing like depression from a hellish year to zap the creative juices. But, I am back and have a LOT on my mind. I make no promises of how often I will post, but will try to post as often as possible. As always, I will focus on what it is like to be a mom of a special needs child and the wonder of 7q11.23 duplication. I will be working on some projects regarding 7qdup and may share some excerpts of those as well. I'll also talk about the quest to find balance. Never an easy task for any mom. I have a new facebook page so you can keep you with the posts. I'll let you know when they are up and ready to read.

Please like my page and share it with your friends. Quests of Motherhood
 https://www.facebook.com/pages/Quests-of-Motherhood/15877367083029


 

State Fair of Texas 2011

If you are a regular reader then you know it is a tradition for the three of us to go to the State Fair every year. We consider ourselves professional fair goers. We have it down to a science. We see almost every side-show. They are the most entertaining aspects of the fair. Some change from year to year and others stay the same. We saw quite a few new acts this year. But, the best part of the trip was that we were joined by my family. My parents, my sister, and her son joined us on our whirl wind tour!

Our first stop was the arts and crafts building. The amazing craftsmanship is a marvel to anyone, even the men of our group who are not the least bit crafty.

I crochet so I am always especially in awe of the crocheted items. Of special interest this year were two award winners pictured below. All handcrafted and crocheted. The artisans are truly worthy of their prizes.





The Butter Sculpture! A true work of art made of a common baking ingredient. The sculpture is entirely made of butter. The artist(s) are not given credit for the sculpture but in my opinion should be as they are true artists. I could never imagine working with a baking ingredient while in a giant refrigerator. This year sculpture was especially wonderful with many small details and hidden items that engaged the observers in a game of "I Spy."





The original Ronald McDonald! He did a hilarious comedy/magic routine. He is the original person who appeared on the McDonald's commercials. Rumor has it that he is still involved in the writing of today's McDonald's commercials.



My dad the consummate evangelist used the moment that he met Ronald to present the gospel. That's my dad! Get within ten feet, and he'll find out if you know his savior Jesus Christ, and if not, you'll hear about him before he lets you go.


Cirque Shanghai--A traveling Cirque du Soleil Act...They were breathtaking!



Snugglebug was mesmerized by the acrobats.



The World of Birds is a family favorite. Even as kids showing goats, we would find time in the schedule to see the birds. My sister, Leah, had a particular love and fascination for birds. We lost this precious member of our family this year, and as we sat watching her beloved creatures take to the sky, we remembered her. Not a single one of us in our little troupe overlooked the fact that the one who loved birds the most was no longer with us to enjoy them.


Billy Roy has been performing his One Man Band at the Fair for 20 years. Last year was his first year back after a three-year absence. This year he was given a prized position to perform and sponsored by the State Fair because so many fair-goers had called wanting to know where Billy Roy was.

Billy Roy plays twelve instruments at once and is a delightful performer. He is very entertaining with great songs that make you laugh as well as an impersonation of Willie Nelson that will crack you up as well.

After his performance, we welcomed him back and told him were among those who had missed him and looked for him every year.



An act we had not seen in several years turned out to be Snugglebug's other favorite. Our boy has quite the fascination for horses and stood as close to the fence as he could get. My husband had to watch him closely to make sure he did not get too close for comfort.

The Spirit of the Horse was fascinating as the trainer explained the mind of the horse and his training techniques. He even related some of his techniques to parenting children. It gave me a lot to think about. He left me with one phrase stuck in my head, "Ignore the bad behavior and reward the good behavior." I'm not saying punishment is not sometimes needed, but I have found that maybe it is not needed every time.

Notice how Snugglebug is pressed against the fence. He did have his arms stuck through the fence trying to reach the horse, but I made him put his hands and arms back on his side of the fence.





This is our traveling band of merry makers!

My youngest sister and her sweet baby boy (not so much a baby as he will soon be two!) Snugglebug's Baby Cousin is a great pal and playmate. He was so thrilled that he was able to join us!


My parents! I was thrilled that they joined us. They got the tour of a lifetime of the State Fair. Even though our family had been going to the fair for literally decades, we were always showing animals and never had time to really tour the fair. This was a new experience for them!



And of course, us!


Snugglebug passed out around mid-afternoon. It was all just too much fun. His little buddy and cousin also passed out. Good thing those strollers are so comfy!


As always, the treat of the day is a Fletcher's Corn Dog and ice cream and don't forget the fresh squeezed lemonade. I was on my cleanse and did not eat any of those! I munched on spinach and broccoli while everyone else ate heartily!


Snugglebug and his Baby Cousin, playing a game of racing each other up and down the Cotton Bowl steps.


It was a great day, full of memories! My dad hinted that he would like to be invited next year. I said absolutely! I then explained that anyone who would like to attend with us is welcome and that last year, we even had a Chinese girl who barely spoke English and whom we called Mei Mei, which is "Little Sister" in Chinese. I said everyone is welcome regardless of age, race, or language.

The countdown has begun to next year's State Fair!!

The Quest to Multitask...OR NOT!

I've never been very good at multitasking. Every place of employment I've ever had has complained that I don't multitask enough. It's not that I can't multitask at all. It's just that society today expects us to accomplish so much in a given day that you must multitask on a very high level. One can't do just two things at a time. One must be able to accomplish three or four things at once. And perfectly at that!

I can do one thing very, very well and efficiently. When you add multitasking with two things, I can get the two tasks accomplished but there will probably be mistakes, and it won't be completed in an efficient manner. Make it three or four things to multitask and disaster awaits. Just sit back and watch the show. This is the area where my previous bosses had issue (all except one that is). I just can't balance three or four tasks at once and not cause a great mess, which of course means even more time to clean up the mess.

Case in point, one night a few weeks ago, we were out till past Snugglebug's bedtime. I was in a hurry to get him to bed before he crashed on the sofa or gained a second wind. The latter is the greatest danger. Not to mention the fact that I was tired and just wanted to sit back and relax.

Snugglebug desperately needed a bath, so I started his bath water. While his bath ran, I thought I would make my shake for the next day's breakfast. It usually just takes a couple of minutes. (Note: two activities at once)

Snugglebug interrupted my shake making with a desire to take his medicine and get his post-med treat of mini M&M's. I never refuse him that request because otherwise I might forget later. (this is activity #3)I drew up his meds and gave him his mini M&M's. Then returned to activity #2, making my shake.

I threw the last ingredient into my shake, put the lid on and pressed the button, giving it a quick whirl before giving it a taste to make sure it was right.

In the midst of taking the lid off to take a taste, I remembered that task #1 was still running. I dropped my spoon and raced into the bathroom.

You may know where this story is going, but think again!

The bathtub had indeed run over! Half the bathroom was flooded with water racing to the carpeted hallway. There was probably about a half inch of water near the bathtub and around the toilet.

I yelled for Snugglebug to bring mommy a towel but received no response. He is usually right on my heals so I was surprised. I raced around the corner where two baskets of unfolded laundry sat, one of which was a load of towels. The entire load of towels were launched into the bathroom floor to create a dam.

About the time the dam was created, I hear an ominous whir coming from the kitchen. I stood up from my dam and yelled, "Noooooooooooooo! Nooooooooooo!" while running at mach speed to the kitchen!

Snugglebug had decided that he was going to help me by finishing my shake. With the lid off, he pressed the mix button. In my mind, I was imagining the worst mess in the history of all motherhood! But, to my surprise, the mess was contained to the counter and the machine with a few splatters each. I honestly don't know how a gargantuan mess was avoided.

I unplugged the blender and hauled Snugglebug to the flooded bathroom. After ensconcing him safely in the bathtub, I proceeded to clean up the floor.

When it was all cleaned up, I sat on the toilet lid and wished I had just focused on one thing at a time. Why is multitasking important anyway? And, WHO, for goodness sakes, overflows a bathtub!