The Relationship Between Hot Weather and GI Issues

Rebekah was out in the heat all day yesterday. She has issues controlling her body temperature, so we did our best to keep her shaded and cool. She never got sweaty, but by the end of the day, I could tell she wasn't feeling her best and her digestion slowed down greatly. She was getting a very bloated and hard stomach and it was taking a long time for her stomach to empty. We also had to treat her for constipation because she hadn't pooped in several days and this should not be an issue with a very short large intestine.  All of this made me reflect back on her major bowel obstructions which almost all have taken place after prolonged heat exposure. In fact, I think all GI hospitalizations have been during the summer!

I started to research how temperature/climate can affect digestion and I found several Chinese medicine sites that state that stress is the number one issue contributing to GI issues which, in turn, dictates your overall health. Stress can be mental, which is what most of us think about. But it is also physiological. And my thoughts are that the physiological stress of managing body temperature greatly affects Rebekah's GI health. 

From one of the pages, I read the following:

"Most people do not realise the effect of weather, humidity and temperature on their digestive system. Sudden changes to external temperature affects your circulation, nervous system and also your digestion. Living or working in cold, draughty conditions can weaken digestion, hot weather can cause bloating and water retention. It is important that anyone sufferring from digestive health problems should try to stay warm and dress appropriately for the weather."

I also found this Huffington Post article about a medical study on the relationship between climate GI health. It states that prolonged heat exposure over days definitely affects GI problems and sends more people to the hospital with IBD flareups and infectious gastroenteritis. (IBD includes Crohn's Disease, Ulceratice Colotis, and other related autoimmune disorders.)

http://m.huffpost.com/us/entry/3749116/

I think with so many trisomy 18 kids having some sort of ongoing GI issues, and many having temperature regulation issues and/or being negatively affected by heat exposure, we ought to be able to come up with a protocol for managing our kids when exposure to heat is necessary. I wonder what things we can do to better prepare our kids before going in the heat, to help decrease the stress of being in the heat, and how to adjust feeds and fluid intake to improve motility issues arising from heat exposure. 

If your child has these issues too, or you have any thoughts on the subject, please let me know. 

#Trisomy18  #IBD

A Lazy Saturday Morning...

I have a trisomy friend, Kara, whose T13 son's story has gone viral on YouTube and the Team Corbin facebook page has over 23k likes! He is in the hospital and had bowel surgery yesterday where a foot of dead intestines was removed. Before the surgery, they were given an opportunity to stop Corbin's journey. For children like Corbin, Rebekah, and others who are deemed chronically ill, incompatible with life, etc, there will always be a group of people who think we are going too far...torturing our kids as we push them through surgeries and medical procedures, and haul them from doctor appt to doctor appt. Kara posted a very heartfelt explanation:

"Many have asked, how far are we willing to go? The surgeon told me this morning, you do have the option to stop right here right now. My response was simple, "That's not an option." Many ask why? Some have opinions and wonder when enough is enough, well I'll tell you. Until you have a child that's sick, who fights every day to thrive, until you take every moment with grace, and I mean LITERALLY every moment. The second you get excited when your child sees the outside world. The second you are grateful to dress your child and the second you are grateful for every OUNCE your child gains; then you'd understand. Those kids, my kid, they fight for their life! They have no voice so we advocate. I advocate for my son what I think he can handle and my mommy instincts haven't failed me yet. I look into my sons eyes and I know. I know he isn't done. So that folks, is why we fight and why we aren't done yet.

I want Corbin to experience life! Life outside this hospital, life with no nurses poking him every day, no doctors waking him every morning. And I know with every chance we give him he's one step closer to THAT life."

Kara's words reminded me of the many times we've had some moments in Rebekah's life where we thought we might lose her, and the moments when we had to make decisions to give up or move ahead. And we would turn to Rebekah, and SHE would let us know it is not time to give up, and God's grace would get us through it. 

I can often see the look of incomprehension or disdain on people's faces when they see Rebekah's battle scars or even when they meet her for the first time and all they can see is a severely "mentally retarded" child who must be a burden to her family.  But if you took a moment to step outside of your world and into our world, you would see that this journey makes us stronger, it brings us closer to God... There is something defining about the grace and strength you can receive even when feeling deflated and broken. There is always a sense of God's presence watching over us - holding us in our darkest moment and rejoicing in the bright moments. 

I almost feel as if I am asleep as of late because life is a little surreal and somewhat normal. But Kara's post about Corbin woke me up. This picture below, this seemingly normal scene of 5 kids lazily watching TV from their family room couch, is much more than just a photo of kids watching TV. It is a picture of why we do what we do!! This is one of the dreams that all parents of children with life threatening disorders have - that their child will get to experience and participate in life right along with the rest of us, even something as simple as sitting around on a lazy Saturday morning. And if you pause for just a second and think about where we came from and where we are today, you might begin to understand what drives us to not give up on these kids!

 
 

It's a bird! It's a plane! It's TinySuperhero Rebekah!!

I can not even begin to formulate the words for the amount of love and admiration I have for my daughter Rebekah. From my pregnancy, to her first day on earth, to 6 weeks old when she was trached, to all her hospitalizations, and through each of her health challenges...there has never been any doubt that this little fighter was sent on earth to share a message of hope and faith. She has been a warrior through it all.  There is no doubt in my mind that Rebekah is a Tiny Superhero! And we received her official TinySuperheroes cape to prove it! 

Rebekah looked ready to take off and continue her official job changing hearts and proving she is more than an "incompatible with life" label! 

From TinySuperheroes.com:

TinySuperheroes seeks to empower Extraordinary kids — one cape at a time. We donate capes to Extraordinary TinySuperheroes who exemplify strength and determination as they overcome illness or disability. Once these Extraordinary TinySuperheroes are comfortable in their new capes, we feature them on our blog, in hopes of giving them a voice, their illness or disability a face, and the world the opportunity to stretch.

What an amazing way to inspire others and bring a little hope and fun into the life of a child facing great challenges!  A huge THANK YOU to Robyn for creating this program for all the TinySuperheroes out there! Please consider supporting their efforts!

I have to brag on Robyn for a moment about the quality of her capes too. It is obvious that love and care go into the making of each personalized cape! I was expecting just a little cape, but this one can make anyone fly! It was soft, and thick, and beautiful! Even the inside of the cape is designed. 

  

It even came with a personalized message just for Rebekah!

I think Robyn deserves her own superhero cape for all of her efforts! For more information on Tiny Superheroes, please visit their website or Facebook page. 

Rebekah has always been our hero, but now she can wear her official cape and show the world what we've known all along.  Rebekah can also now be a TinySuperhero ambassador for Trisomy 18 Awareness! Yay!

Thank you TinySuperheroes for making a difference!
 

Rebekah Faith - Our TinySuperhero for Trisomy 18 Awareness!

An Unexpected Casting Visit

We made an unexpected trip to Shriner's hospital today. Yesterday we noticed Rebekah's casts were so loose in the thighs that we could fit our entire hand into into and down to her knee! Her left foot had actually shifted quite a bit and the right foot was in danger of the same thing. 

The doctor decided to remove the old casts and recast her in the long leg casts for the last 2 1/2 weeks until she is scheduled for the pin removal. Rebekah managed like a champ and wasn't in any pain or discomfort. Her new casts should stay secure the last few weeks. Best thing - her feet looked really good! Although we have 2 1/2 more weeks in long casts then a few weeks in short casts, Rebekah should be able to wear shoes and have then stay on her feet! Can't wait until the casts are completely off and we can bathe her poor dry, scalely legs and wear some cute shoes!

Pre-surgery feet. I don't have a very good photo of her rocker bottom heels, but you can see them to some extent here. Shoes always would fall off her feet and the right one turns off to the right also. 

Getting the casts cut off.

You can see how far back Rebekah's toes are. The cast was beginning to slide off. 

Here are the 2 pins still in Rebekah's right foot. You can see the much better alignment of the heel.

Another view from the outside of the right foot.

Left foot looks great!

New casts for 2 1/2 weeks, then we take them off again to remove the pins. 

 

 

Team Budd Zoo

Please consider supporting Team Budd Zoo in our efforts to raise money for SOFT (Support Organization for Trisomy 18, 13 and Related Disorders) through their Stroll for Hope event. 

We will be "strolling" in the 3rd Annual Stroll for Hope on Thu, July 18th at this year's SOFT conference in Providence, RI.  Funds raised go towards helping SOFT provide its resources and services to many families.  You can view some of those resources on their website: http://www.trisomy.org. SOFT is a 501(c)(3) that has been supporting the trisomy community since 1980! No donation is too small!

==> DONATE HERE <==  

Donating through the firstgiving.com website is simple, fast and totally secure. It is also the most efficient way to support my fundraising efforts.

Many thanks for your support -- and don't forget to forward this to anyone who you think might want to donate too!

THANK YOU from Team Budd Zoo!

Team Budd Zoo - 2011 Stroll for Hope - Chicago, IL

Team Budd Zoo - 2012 Stroll for Hope - St. Louis, IL

Some of the 2012 trisomy stroll participants

Foot Surgery - Finally!

Some of you may recall that we have been trying to pursue foot surgery for Rebekah for some time. In fact, we were all set to travel back and forth to St. Louis last fall to have her feet casted and corrected for rocker bottom feet/vertical talus. However. Rebekah got a bowel obstruction last September and spent 2 weeks in the hospital. Although it resolved itself, we have been leery to travel so far for orthopedic services since she is likely to have another repeat bowel obstruction at some point.

Rebekah's right foot bends outwards to the right. The toe bones all bend to the right. Her toes on both feet look small because they are all webbed from the first joint. Her feet are more than "flat", they are actually convex from an anomaly related to Trisomy 18 called Rocker Bottom feet. 

Another look at her feet from the bottom. you can see the outward curve of the right foot and the bony protrusion on the inside of that right foot. This is due to her talus bone in the foot appearing vertical and diagonal.

Given Rebekah's genetic diagnosis, we have met many obstacles (doctors and support from others) in seeking to fix Rebekah's feet. In fact, there are many people who believe we would just be subjecting our child to unnecessary and senseless surgery and "pain and suffering" because we cannot "fix" trisomy and "everyone knows" she cannot (and will not ever) walk.

You can see the prominence of the heel bone being pulled up. This is the sign of "rocker bottom feet" and results in her heel sticking way out. Shoes do not fit this girl! You can also see the convex action of the foot where it should be concave into an arch. This foot defect causes her weight to be distributed on the inside front right of her foot during weight bearing - a balancing act at best to maintain a standing position, let alone walk.

A shot of Rebekah's bones from the top of her foot. you can see how her right toe bones all curve outwards to the right. This anomaly will NOT be corrected with her surgery as this is bone work. If and when we address this, Rebekah will be much older.

Well, Rebekah didn't read those textbooks and we claim victory over the effects of trisomy in her life. We believe she WILL walk one day, but her feet need to be fixed in order to help her reach this goal. And, while surgery of this nature would be "elective" in that it is not necessary for her health, her foot anomalies create feet that cannot be properly balanced on for walking. Anyone WITHOUT TRISOMY would not be able to walk independently on them. So we choose HOPE and FAITH and will give her every chance to overcome the effects of Trisomy on her body.

Rebekah bright and early at Shriner's waiting for check in.

On Tuesday, May 14, at 6am, Rebekah checked into the Shriner's Children's Hospital in Greenville, SC for surgery on both of her feet. Rebekah was born with "rocker bottom" feet and has some bone anomalies caused by tight tendons and mis-angled bone. This is how the procedure was described: The surgery consists of releasing the heel cord tendon to drop the back of the foot bone down, allowing the foot to be more flat. He right foot will also have the outside tendon released so that it will not pull the foot outwards. A pin will be placed through soft tissue to try to hold some of the mis-angled bones into better alignment. Both feet will be casted up to her thigh for 6 weeks. Then the casts will be removed, the pin taken out, and her foot molded for AFOs (ankle-foot orthodics). Then lower leg casts will be put on for another 3-4 weeks while the AFOs are being made. This is all soft tissue work and no bone work will be done (directly).

Once the surgery began, the doctor discovered that Rebekah's calf muscles on both legs actually extended all the way down to her feet as well, and they were released in addition to the Achilles tendon. On her right foot, two tendons on the outside had to be released (instead of just one) and two pins were placed into her foot (versus one) - one from the back and one from the front - through soft tissue to help hold the foot in proper position.  Her bones in the front of her foot all curve to the right and, unfortunately, none of this soft tissue surgery will correct that. But hopefully the more neutral position of her foot will correct the growth pattern.
 
The surgery was successful. Rebekah spent the night in the hospital and it took a few days to get her back to eating. I have to admit, watching her those few days I was really concerned that maybe we had made the wrong decision. She vomited and would not tolerate anything until we gave up on narcotic pain meds and went with just motrin or tylenol. As soon as we dropped the narcotics, she perked up and started acting like her old self!

Rebekah's pain response causes her whole body to go into a flushing mode. Look at how red her cheeks and arm is.  It was also on her chest and upper legs. 

A closer look at her vasodilation reaction to pain.

Her white casts were overwrapped post-surgery in the color of our choosing. I went with the bright tie-dye/camo colors to match the bright colors that were in all the stores for girl's clothes. :-)  Sitting on Rebekah's lap is a new Build-a-Bear (well, dog). Shriner's has a room with all kinds of build-a-bears and each child after a surgery is allowed to pick out a bear and outfit/accessories. Ours has a princess crown and wand and silver shoes. She has a princess t-shirt on. There weren't any really cute princess dressed that didn't clash with the pink on the poodle.

The casts add a LOT of weight and we are supposed to maintain her feet in an elevated position where the heels do not touch anything in order to minimize pressure sores. Well, let's just say after about a week in the casts, Rebekah got tired of lying in the same position and unable to move. So three weeks into the 6 week full leg cast, she is easily lifting those heavy casts and flinging them all around. She has figured out how to finagle her body back and forth and move across the floor. She is delighting in brutal leg whacks against her family's extremities, and all of us have at least one black and blue mark to show for it!  This girl has to have abs of steel by now!

Please continue to pray with us that her surgery will make a difference on her balance and potential for walking, for the overall success of the surgery once the casts all come off, and for what the future holds for our baby girl.

Rebekah rockin' her multi-colored tie dye/camo casts as she leans into Daddy for some snuggling time.

Make Change Through Grace

“God appoints our graces to be nurses to other men's weaknesses.” -Henry Ward Beecher

If we only surround ourselves with like-minded people, we will never change the world. Or, worse yet, we may never change for the better.  Because, let's face it, we can ALL do something to become better people.

When I was pregnant with Rebekah, I stuck with an ob/gyn who was rude to my husband and I and refused to agree to our plan of an emergency c-section should Rebekah have difficulty during delivery. There were many issues, but he even said at one point, "I didn't go through all those years of school and my practice to deal with THIS." ('this' was my baby girl who he expected to die and this situation that he perceived as a hopeless waste of time.) 

Why did we stick with him? For practical reasons, I was close to full term and we didn't have a lot of options. But the real reason is because I knew that, despite his words, he wouldn't have a choice but to help us when it came time for delivery. I also felt in my heart that we just needed to be there and show our faith and strength to him. 

Well Rebekah surprised everyone!  When he came to visit us in the hospital a few days after her birth, he looked at Rebekah and said, "You made the right choice." He also told me that if he had another trisomy 18 pregnancy, he will manage it differently. That made it all worth it!  And it wasn't the point that Rebekah lived, because we were still very much in a questionable place. It was that we celebrated every moment and, despite planning a funeral and dealing with grieving a lost dream of a "normal" daughter, we were hopeful and loving and forgiving and full of grace.

Had we stormed off and changed our plan, or worse yet been ugly and rude, then this doctor's heart would never would have changed.  

Because of his change, I can face disapproving or negative medical staff (or people in general) and give them the benefit of the doubt. Sometimes, I find my view is changed along the way too, and that they really did have my daughter's best interest at heart.

How many people are in the world that have bad attitudes and erroneous views? And maybe all they need is a little grace and forgiveness?  And maybe that grace can result in a changed heart? And on the flip side, sometimes listening to opinions and views that differ from our can feed our own passions to do good in the world or remind us that maybe we need to change something about ourselves.

This journey is a tough one. We need to be gentle and forgiving to one another. 

“The burden of life is from ourselves, its lightness from the grace of Christ and the love of God.” -William Bernard Ullanthorne (1806-1889)

Happy 1461 Days of Trisomy 18 Miracles!

Happy 4th birthday to our little miracle girl! In case you are checking your math, it's 1461 days because she lived through 1 leap year! ;-)

Exactly 4 years today, Rebekah Faith Budd was born into this world with Full Trisomy 18. She was never expected to make it to birth, let alone be here 4 glorious years! In fact, we actually had her funeral planned before she was even born. Then she went home on hospice as everyone waited for her to just die.  But, oh, how we like God's plan so much better than the one that we had!

A friend commented to me today that she remembers visiting us in the hospital when our sweet baby was born. She had to leave to get ready for her own daughter's princess birthday party. I told her, "I hope one day my little girl can have a princess party." And she told us that one day she will.  This memory brought tears to my eyes. And we did, her first birthday party was a princess party.

Words cannot explain how awesome it is to celebrate this miraculous 4th birthday... in fact, we've had 1461 miraculous days of  full trisomy 18 living!   God is good!

Here is a look back through time. How she has changed!

Rebekah's Birthday Day - March 21, 2009. She was 4 lb  6 oz.

From the beginning we were surrounded with other trisomy 18 miracles! Here are her local friends: Dawson and Kaylen.

Celebrating Rebekah's 1st birthday along with 3 other trisomy 18 friends! Dawson and Kaylen are in the front row and Natalie is in the back row. 

This is Rebekah around her 2nd birthday. How she loves her family!

Rebekah's 3rd birthday brought more joys.

Rebekah celebrated her 3rd birthday with several more trisomy friends! Here she is with her TFFs. Joey and Lily are about Rebekah's age, and Kaylen is about 12!

Immune System Surprises and Vaccination Antibody Titers

Rebekah has been getting a ton of "colds" and ear infections since getting ear tubes last August. It's possible that she may be getting the same amount, but now that we see her ears draining, we pay more attention to her symptoms. But it feels like we are on an antibiotic at least once a month for an "ear infection". This is on top of her prophylactic antibiotics for UTIs.

Parts of the Immune System

The immune system is a complex, wonderous design!  There are blood tests that can measure your infection fighting proteins (called immunoglobulin) and whether you have an immune system deficiency. It's not uncommon for people with genetic disorders to have some issues resulting in medical fragility and possible immune system disorders. In fact, Rebekah's endocrinologist had ordered all kinds of tests back in November when she broke her femur. Among these were immune system blood studies (IgA, IgG, IgM), but nothing came back out of the ordinary.

Her ENT recently ordered immune tests again and included antibody titer testing for Pneumococcal and HiB, both which are common in causing reoccurring ear infections. Now Rebekah has received all of her immunizations (including all recommended doses for both), so her titer tests should show a number indicating she has antibodies to fight these. However, if the number is low, it means you might benefit from a booster immunization. Guess what?! They were low!

The pneumococcal vaccine covers different types of pneumococcal disease, such as pneumococcal pneumonia, bacteremia (can cause blood infections), meningitis, and otitis media (ear infections). Here is some additional information on this vaccine.
The Hib vaccine (Haemophilus influenzae type b) vaccine prevents illnesses such as meningitis, pneumonia, epiglottitis, bacteremia (blood infection), and cellulitis.  Additional information on Hib here.

Considering many of these (especially pneumonia) are common (and possibly deadly!) to trisomy kids, you can see my surprise and concern over our titer numbers being low! But now it gets confusing and we will most likely be making a consult with Infectious Disease to discuss our findings. You can google all kinds of info about titers and it might convince you that vaccines are useless anyway. And were this an issue for one of my other kids, I might not be so concerned. But having 5 kids, exposure to germs and viruses is a given. Obviously we do not want to expose Rebekah to diseases unknowingly and we do want to protect her. Her body cannot fight off illnesses like a typical person and we already know that. Having a child like Rebekah sometimes makes you go against your normal course of action because there is no book written on how to deal with these issues.

Here is an interesting article on Immune Deficiency that has this to to say:

"Normal immunoglobulin levels in a child who nonetheless doesn't respond appropriately to the vaccinations suggests that the immune system isn't functioning properly. ...
Your first symptoms are likely to be recurrent bacterial infections involving the ears, sinuses, nose, bronchi and lungs. If your infections are severe enough and recur often enough, you can permanently damage the bronchial tree. ... Bacteria (Hemophilus influenzae, pneumococci and staphylococci) that are wide-spread in the general population may cause pneumonia.... Not only do patients with common variable immunodeficiency have a depressed antibody response and low levels of antibody in their blood (hypogammaglobulinemia), but the antibodies that they produce may also attack some of their own tissues (autoantibodies). The autoantibodies may attack and destroy red blood cells, white blood cells or platelets, and may cause other disorders as well. Among the most common are gastrointestinal complaints, such as abdominal pain, bloating, nausea, vomiting, diarrhea and weight loss."

So, when Rebekah gets her 4 year check up in a few weeks, we will be adding boosters of these two vaccines to her to do list, and we may request more antibody titer tests to figure out what to do next! The strange thing for us is that we didn't receive any red flags on her actual immune system checks. I don't recall it ever being suggested that tri kids get antibody titer testing done if they have repeat infections. So I wonder if this MAY indeed be an issue with many other kids, especially ones that have reoccurring pneumonias! And the surprise is that testing could show no basic immune issue but the titer testing could show ineffective vaccination!

Anyway, I wanted to share this finding because we already tested her immune system and hadn't found anything unusual. But this is just like her bones - Rebekah has normal blood levels of calcium, phosphorus, D, etc that go into bone development, but her trisomy is affecting her at a cellular level and disrupting proper bone construction. It appears that we have a similar issue in the immune system with everything appearing to be right (from a numbers standpoint), but not from a functional standpoint.

I think this would make for some interesting studies!! If anyone has more info on this or similar experiences, please share!

This is an overview of how how our immune system works. Though this post isn't about the mechanics of the immune system, I think this helps to visualize all the places something can "go wrong" in our immune system.

Isochromosomes, Inversions, and a little T21 on top

We're almost to the end of Trisomy Awareness Month and I want to continue sharing the Hope for Trisomy daily tidbits put together by my friend Alisha.

Day 20: Isochromosomes

On our 20th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about a rare structural abnormality, known as ISOCHROMOSOME. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. This constitutes a simultaneous duplication and deletion. Isochromosomes are often found in females with Turner syndrome and can be found in tumors. Share because you Care. ♥

Day 21: Down Syndrome Awareness

On our 21st day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about the MOST COMMON TRISOMY. Trisomy 21 (Down syndrome) is when there are 3 copies of the chromosome 21, instead of the normal 2. The conditions associated with Down syndrome vary from person to person and can range from mild to severe. However, children with Down syndrome have a widely recognized appearance. Their head may be abnormally shaped and smaller, and the inner corner of the eyes rounded instead of pointed. All Down syndrome individuals experience cognitive delays, but the intellectual disability is usually mild to moderate. This chromosome abnormality occurs in about 1 in 700 newborns. The mother's age is the only factor that has been shown to increase the risk, especially after the mother is 35 years of age. However, since younger women are more likely to have children, the percentage is higher in women younger than 35 years of age. It is important to remember that ALL individuals diagnosed with Down syndrome live happy, productive lives well into adulthood. Share because you Care. ♥

Day 22: Paracentric and Pericentric Inversions

On our 22nd day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share a little more about the STRUCTURAL ABNORMALITY called an INVERSION. An inversion occurs when a chromosome breaks in two places. Then the resulting piece of DNA is reversed and re-inserted into the chromosome. There are 2 types of inversions which are called pericentric and paracentric. The inversion that involves the centromere is called pericentric, and paracentric is when the centromere is not involved. The most common inversion seen in humans in on chromosome 9. This inversion is usually considered harmless, but there are suspicions that it could lead to an increased risk for miscarriage or infertility. An inversion does not mean there is a loss of genetic information, it just simply rearranges it. Share because you Care. ♥

Days 16, 17, 18, 19 and a Bonus for Trisomy 18

Day 16 - Ring Chromosomes

On our 16th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about RING CHROMOSOMES. A ring chromosome is a chromosome in which both ends have been lost (deletion) and the two broken ends have reunited to form a ring-shaped figure. Ring chromosomes may form in cells following genetic damage by mutagens like radiation, but they may also arise spontaneously during development. The issue is that genetic information is often moved or deleted when a ring chromosome forms, and as a result, the genes on that chromosome may not express properly. This can lead to health problems which range from congenital conditions to cancer. Ring chromosomes are very rare, and they have been found in nearly all human chromosomes. Some people have ring chromosomes in their bodies and remain unaware of it, while in other cases, a suspected ring chromosome may be identified shortly after birth. The diversity of the spectrum from profound developmental delays to a blissfully unaware existence illustrates the diversity of human genetics. Share because you Care. ♥

Day 17 - Karotypes and Microarrays

On our 17th day of MARCHING into TRISOMY AWARENESS MONTH, we first want to wish our supporters a HAPPY ST. PATRICK'S DAY! Hope for Trisomy would love for you to share a photo of your blessing in GREEN! We are also going to share a genetic analogy. The process can be a little confusing, so we are hoping this analogy will help. Our chromosomes are like a set of 46 encyclopedia books. A chromosome analysis or karyotype is able to determine if there are any missing or extra books (chromosomes). Our genes are like the sentences on each page of the set of encyclopedia books (chromosomes), and each page of each book contains a unique set of sentences (genes). Each page contains the sentences for approximately 10 to 30 genes. A DNA microarray analysis is able to open up each of the 46 encyclopedia books to determine if there are any missing or extra pages. Our DNA are like the letters that make up each sentence (gene) on each page of the books (chromosomes). Each sentence is made up of a very specific sequence of letters (DNA). Genetic sequencing is able read a specific sentence to determine if there are any spelling mistakes (genetic mutations) in the sentence (gene). Share because you Care. ♥

Day 18 - Trisomy 18

On our 18th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about the 2nd most common Trisomy behind Trisomy 21 (Down syndrome). Trisomy 18 (also called Edwards syndrome) is a genetic disorder where there are 3 copies of the 18th chromosome instead of the normal 2, and because of the third copy...it affects the child both physically and mentally. Unfortunately, there is a high mortality rate amongst the babies born with this disorder because of how that extra copy affects the development of the body. However, each child is affected differently and there is a wide spectrum of severity amongst babies born with this disorder. Here is a link provided by the SOFT Organization about TRISOMY 18 FACTS. http://trisomy.org.s113588.gridserver.com/wp-content/uploads/2012/10/Trisomy-18-Facts-8-20-12.pdf Also, for the families caring for a child diagnosed with Trisomy 18, the SOFT Organization has a book provided at this link, http://trisomy.org/shop/care-of-the-infant-and-child-with-trisomy-18-or-trisomy-13/
and a guidebook provided at this link.http://trisomy.org/shop/trisomy-18-a-guidebook-for-families/ Share because you Care. ♥

Bonus T18 Share for the official Trisomy 18 Awareness Day!

One of the most notable things about trisomy 18 children are long and gorgeous eyelashes! Although eye problems are not one of the top concerns in a child with trisomy 18, we thought we'd share a photo example of their gorgeous eyes and share a list of some common Eye Features of Trisomy 18.

LONG EYELASHES - Although we can't find an actual publication that states this as a characteristic of trisomy 18, every T18 parent knows this! In fact, we like to joke that "the length of your eyelashes is directly proportional to the amount of 18th chromosomes you have." :-) That isn't really true, but there is definitely a correlation between long lashes and trisomy 18! All you have to do is look at just about any portrait of a T18 child.

WHORLED/ARCHED EYEBROWS - Commonly develop into a uni-brow too. http://www.ncbi.nlm.nih.gov/pubmed/22901740

COLOBOMA - A small keyhold in the iris or other area of the eye. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520824/table/T2/

PHOTOPHOBIA - Extreme light sensitivity causing sneezing, closing of eyes, aversion to light, etc. http://www.ncbi.nlm.nih.gov/pubmed/23088440

Other eye anomalies can include blue sclerae, ptosis, microphthalmia, cataract, corneal opacities, strabismus.

If you look closely at this lovely T18 model's eyes, you can see somewhat tilted heart-shaped iris colobomas. ♥

Visit https://www.facebook.com/HopeForTrisomy13and18 for facts, fun, advocacy, hope, and more!

Please note - 
Unless your child has other health issues, developmental delays, and other symptoms of a genetic disorder, you should not have to worry if they have some of these eye conditions. All of these eye conditions can occur in genetically normal persons. However, the whorled eyebrows and long lashes are one common feature of trisomy 18 children that parents readily recognize. They do occur in some other genetic disorders as well. So we thought it would be interesting to point out some common eye features for those with trisomy 18 children that may not have realized are "normal" for trisomy 18.  So please do not worry if your child has long eyelashes and bushy eyebrows, it is most likely just hereditary! But for those already diagnosed with a genetic condition, it may simply be a "normal" trait of that condition.

Day 19 - Translocations

On our 19th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share a little more about TRANSLOCATION, which is a structural abnormality in reference to chromosomes. Translocation is used when the location of specific chromosome material changes. The two main types of translocations are reciprocal and Robertsonian. In a reciprocal translocation, two different chromosomes have exchanged segments with each other. In a Robertsonian translocation, an entire chromosome attaches to another at the centromere. Translocations can be balanced or unbalanced. The balanced translocation is a rearrangement of the genetic material without any gain or loss of DNA. An unbalanced translocation IS a gain or loss of DNA, so the cell has an abnormal amount of genetic material. Often times, unbalanced translocations result in a birth defect, stillbirth, or a spontaneous abortion. Share because you Care. ♥

Misconception #1 - There is No Hope

Many people just don't believe the amount of discrimination and prejudgment that exists for children born with a medical label. When I explain that I personally know MANY families that have been denied medical, life-saving interventions for their trisomy child, I mostly get incredulous looks of disbelief.  And while we have never been outright denied intervention, it has certainly been discouraged and discussed along our journey. So I want to take part of TRISOMY AWARENESS MONTH just to do some educating about actual MISCONCEPTIONS that have affected us personally. I may throw in a few examples from friends along the way, but I am going to keep this mostly personal experiences so that no one can claim I am making things up. Our experience has been relatively good. So by the time you read through several posts of our personally-experienced misconceptions, maybe you will have a better idea of the big picture of what many families go through when trying to do their best for their trisomy child.

mis·con·cep·tion   [mis-kuhn-sep-shuhn]  (from dictionary.com)
a false or mistaken view, opinion, or attitude; a wrong idea, impression; false appearance, false belief; error, misunderstanding

Synonyms: deception, delusion, error, fallacy, false impression, fault, illusion, inaccuracy, misapplication, misapprehension, misconstruction, misjudgment, misinterpretation, mistake, mistaken belief, misunderstanding, myth, neglect, omission, underestimation
Antonyms: accuracy, certainty, comprehension, fact, perception, reality, truth, understanding

Misconception #1: There is No Hope for Trisomy

Rom 15:13 - I pray that God, the source of hope, will fill you completely with joy and peace because you trust in him. Then you will overflow with confident hope through the power of the Holy Spirit.

There is no denying it - the statistics are not good. 90-95% of trisomy 18/13 babies will not make it to birth. Most will miscarry in the first 2 trimesters from chromosomal-caused complications. Many will be aborted just because they are imperfect and have a label. However, up to 10% will make it to birth! That is a glimmer of hope right there! There are records of trisomy 18 and 13 children living into their 30's. Yes, this is rare, but POSSIBLE.  Many that do survive may need heart surgery or gastronomy tubes to thrive. And the medical evidence shows that children ARE surviving these interventions!  

Despite the trisomy type, chromosome condition, or medical label, my take on it is this - for the babies that make it to birth, they have already proven something! There IS HOPE. Why not give them a chance? 

We were given details about Rebekah having the following issues, probably around the time we got our amniocentesis results (~19 weeks). 

• choroid plexus cysts (cysts on the brain that are often markers of trisomy 18) & brain malformations - we would be at high risk for severe intellectual disability and seizures.
  => The cysts went away and the brain abnormalities are still there. We are praising God that at almost 4 years old, we still have no seizures and her brain MRIs have shown improvement in "white matter diffusion" issues and EEGs have shown improvement in synapse development and electrical activity.
• a large VSD (ventricular septal defect - a hole in the lower portion of the heart)
  => Rebekah's VSD closed on its own at about 30 weeks gestational age! 
• one kidney
  => Rebekah was born with TWO kidneys! One was just smaller than the other. However, at 1 year old during a routine (for trisomy 18 kids) abdominal ultrasound, it was discovered that the second kidney is actually full size, but it is a horseshoe kidney that wraps around her back and is connected to the "normal-looking" kidney. Turns out horseshoe kidneys are fairly common in trisomy 18 kids.
• clenched fists
  => Rebekah's hands were clenched, and even today when she is upset or stressed, she tightens them up. However, we have always been able to open her hands up and they are not "frozen" into position. 
• rocker-bottom feet
  => Rebekah does have rocker-bottom feet and, after 3 years of pushing for resolution, we are set to have surgery on her feet in May 2013!  We are confident that Rebekah will walk one day so we will do what we need to to give her the opportunity to achieve her milestones.
• 2-vessel cord - carries much higher risk than the typical 3 vessel cord
  => Despite the 2-vessel cord, my cord flow remained good through the pregnancy.
• very slow growth
  => Rebekah was born with a typical trisomy 18 birthweight - she was 4 lb 8 oz at 38 weeks when we were induced. She has gained weight well and followed a typical growth curve, even though she is at the bottom of it.
• low amniotic fluid - This can indicate kidney and urinary tract issues and genetic defects, increases risk of fetus injury, can affect proper bone growth, and increases the risk of miscarriage and stillbirth and increase labor complications like cord compression (which is a big concern when you already have a 2 cord vessel).
  => We had low amniotic fluid during most of the pregnancy. This is atypical - usually polyhydraminos (too much amniotic fluid) is more common. 

We started out with no hope for Rebekah. Online resources were very different a mere 4 years ago. What was available - stories of heartache, articles supporting nonintervention, videos of families saying goodbye too soon, and old genetics textbooks being used to give us out-of-date information and lack of hope or support. We planned Rebekah's funeral before she was even born. We didn't prepare a room. We didn't buy clothes or baby things. 

But God gave us strength and HOPE to get through those dark days, and Rebekah proved to be a fighter.

Rebekah has come from an extremely medical fragile trisomy 18 infant...

...to an incredible little girl that cannot be defined by a label.

There IS HOPE for TRISOMY!!

Here are some sources of HOPE for Trisomy kids...

• Click here to read Stories of Hope for Trisomy.
• The Experience of Families With Children With Trisomy 13 and 18 in Social Networks - Parents who engage with parental support groups may discover an alternative positive description about children with T13-18. Disagreements about interventions may be the result of different interpretations between families and providers about the experiences of disabled children and their quality of life.  MUST HAVE ARTICLE FOR PREGNANT MOMS TO GIVE TO THEIR DOCTORS AND FOR ALL TRISOMY FAMILIES TO SHARE WITH THEIR DOCTORS/SPECIALISTS.
• Better Prognosis in Newborns with Trisomy 13 Who Received Intensive Treatments: A Retrospective Study of 16 Patients
• Outcomes of Cardiac Surgery in Trisomy 18 Patients
• Pediatric Sub-specialist Controversies in the Treatment of Congenital Heart Disease in Trisomy 13 or 18 - "Cardiologists were more likely than geneticists or neonatologists to recommend intervention on all heart lesions other than single ventricle palliation which no specialists recommended. Parental wishes that "everything be done" significantly influenced all specialists' recommendations."  Empowered parents is a HUGE factor in surgical interventions. Nothing will happen without it! Don't wait for your doctors to okay surgery - you need to be your child's advocate. Given the data, if you do a few calculations, you will find that 850 doctors were involved in over 900 cardiac surgeries on Trisomy 13/18!!  And the doctors that responded only represent 1/3 of those who could have responded. WOW!