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!

 
 

Coconut Oil for Trisomy Kids - Increased Babbling and Concentration?! You bet!

Updated 8/18/13 to add info regarding coconut intolerance/allergies.

At four years old, the only thing Rebekah verbalized was the same "ahhhhhh, ahhhhhh" noise she has made since she was little. We have spent a lot of time trying to get her to make different sounds and move her mouth in different ways. We do lots of oral stimulation and she loves to watch our mouths when we talk and will even touch our lips. But I had lost hope that she would say anything more than "ahhhh" because years of effort have not produced any different sounds. And we do work with her in this area daily!

So on my Trisomy 18 Mommies Facebook Group (which is for all rare trisomy parents, not just T18), a T13 mom was discussing her daughter's care and mentioned that she gives her 3-4 half teaspoons of coconut oil per day and she said "mama" after several weeks of coconut oil. She went on to say that the verbalization became more frequent and meaningful after adding in cranial sacral therapy. We already do periodic cranial sacral therapy for Rebekah (which I LOVE and highly recommend!! It helped early on tremendously!), so I was very interested in the coconut oil.

I researched it online and found some very interesting links. Most are related to the use of coconut oil for Alzheimer's patients. No, Rebekah doesn't have Alzheimer's. But... the premise is that Alzheimer patients have brains that have problems getting "fuel" and the brain degenerates. Dr. Mary Newport looked into providing her husband, suffering from Alzheimer's disease, an MCT fuel that would bring about a mild state of ketosis and allow the brain to process the "fuel" and function better. If you read her work, you'll get into a whole bunch of scientific information about MCT fat (medium-chain triglycerides) and ketones which I won't get into. But... if you read enough of it and know enough kids in the trisomy community, many kids with severe epilepsy have benefited from a Ketogenic diet which has to do with ketosis, MCT fats, and changes in brain function as a result. So this is all enough "evidence" for me to give it a try! There isn't really anyway I can harm my daughter by trying coconut oil, other than maybe adding a few pounds. And coconut oil has been used for centuries because of its medicinal value. :-)

• Dr. Mary Newport's initial story about using coconut oil on her husband who has Alzheimer's disease.
• Update on the Newports 5 years after using coconut oil.
• Mary's website -  Scientific references, articles, testimonials, and more. Per the website, studies are beginning on people with mild cognitive impairment and also on the use of ketones as alternative fuel for other conditions such as cancer, ALS, wound healing, oxygen toxicity, and epilepsy. Exciting stuff!
• coconutoil.com - research and news on the health benefits of coconut oil. Includes references to the use of coconut oil and ketogenic diets for autism. (http://coconutoil.com/tag/autism/)
• Coconut Oil, Ketones, and Alzheimer's - Mary's blog

Now I cannot provide any links to using coconut oil for speech. There are several supplements out there that are supposed to be good for speech development including Fish Oil and a supplement called Speak. But we had issues trying fish oil with Rebekah. She gets a suggested daily amount, but doesn't seem to tolerate the larger quantity prescribed for "speech" and cognitive improvement. What I can offer is anecdotal/parent experiential info. About a month after taking 1 tsp of coconut oil per day, Rebekah started verbalizing more sounds. In the same week, she began saying "dadadadada", "gagagagaga", "bababababa", and "mamamama". She is also experimenting more with sound influctions and her concentration/trainable time has increased a lot. She is more alert, and more interactive. Other people have recognized the change over a short period of time. Coincidence? Maybe. But other trisomy parents are reporting similar experiences. While not scientific, parent experiential data goes a long way to creating the bases necessary to encourage research on a given topic. So far, I haven't heard of anyone complaining of side effects or negative reactions to adding coconut oil.

What We Use: 

We use organic virgin coconut oil. Some are labeled extra virgin. There really isn't a difference (like there is with olive oil). Virgin coconut oil can be cold (expeller) pressed, or wet-milled. Both use no heat and no chemicals. Do not buy the cheap coconut oil you find in grocery stores that is "refined". The refining process uses harsh chemical process to deoderize the oil so that it doesn't taste and smell like coconuts. This process also reduces antioxidants per serving. Wet-milled would probably be the best type to purchase, but it can pretty much only be found online. I purchase cold-pressed oil locally and I am currently using the Vitamin Shoppe's organic virgin olive oil. I have heard that you can purchase a good size container, reasonably priced, of Nutiva at Costco and Sam's Club. It is also an organic, virgin, cold-pressed coconut oil. I am not a brand-snob. I am sure there are many other good brands out there as long as it is organic, virgin, and unrefined.

Dosage:

An adult dose referred to in the articles for Alzheimer's patients is 40 ml or 2.7 T. Rebekah weighed 26 pounds when we started. I used a conservative dose of 1 tsp per day. I am currently working up to 2 tsp per day, but we do not do this consistently as she has gained three pounds over the course of 3 months and the extra calories are probably the culprit. Ironically, coconut oil is supposed to help with weight loss (and memory!), so I may be trying to incorporate it into my own diet!

Our Process of Delivery for G-tube Button:

Rebekah has a mini-one button g-tube and we can use monoject 6ml syringes right into her button. I administer 1 t of coconut oil via Rebekah's gtube with a water bolus in the evening. I do it separate from medicines and feed. The second dose is given in the morning, also separate from feeds and meds. I plan on eventually blenderizing Rebekah's food and will probably incorporate some of the fat into her feeding at that time when I get the okay from a nutritionist.

Coconut oil is solid at room temperature! It becomes a liquid at about 75+ degrees. In order to get the oil into syringes, I scoop it into a small glass and place it inside a bowel of hot water (not getting the water into the glass with oil). After a few minutes, I stir and it is usually liquified. Use hotter water if it isn't melting. Do not microwave or use boiling water as coconut oil doesn't withstand high heat and you do not want to break the oil down and reduce the antioxidant benefits. I draw it up into syringes for the week in 5 ml (1 t) amounts. Each time I want to administer the oil to Rebekah, I simply set the syringe in a cup of hot water for a few minutes, put it into the g-tube, then flush with at least 30 cc (1 oz) of water. I flush with a plunger on the syringe to make sure there is enough pressure to wash the oil down.
It is very important to liquefy the oil and flush well or YOU WILL CLOG THE G-TUBE!! If things slow down, try giving an ounce or two of pepsi or coke to break down the clog. Properly preparing the oil and flushing immediately after delivery should prevent buildup in the gtube button mechanism.

Hopefully this information is useful to some families. If so, I would be grateful if you would please post a comment, share my blog, and "like" Rebekah's Facebook page.  If you pursue using coconut oil for your trisomy child, please join us on the T18 Mommies Facebook group and tell us your experiences! We have several medical professionals on our group and would love to eventually have a medical paper written on the use of coconut oil in our kids. Also, if we continue to see positive responses, Hope for Trisomy will eventually add all of this information into a H.O.P.E. (Helping Others through Personal Experiences) Database that will be designed to encourage medical research based on parent experiential data.

Please remember, this blog is not meant as medical advice. If you choose to make any dietary changes to your child's diet as a result of this information, PLEASE discuss all changes with a doctor/nutritionist first! Adding supplements (such as Speak) when supplements are already being given can result in vitamin toxicity. Adding fat calories and certain supplements can disrupt absorption of certain vitamins and minerals. Adding fat calories can disrupt the balance of a nutritiously balanced plan (1 tsp of fat = 40 calories and for a child on a small volume diet, an extra 40 calories of fat is significant). 

It is important to know and recognize the signs of a coconut allergy. Coconuts are considered a "nut", so anyone with a tree nut allergy should procede with caution. Less severe is a coconut intolerance. Click here for signs and symptoms of intolerance

Other useful links on brain-development for your intellectually disabled child:

• 20 Brain Boosters for Better Cognitive Health - Fish Oil (Omega 3's), Lecithin, ALC, ALA, Ginkgo Biloba, Magnesium L-Threonate, Vitamin E, etc.
• Single Dose of Coconut Oil Boosts Brain Function - Specifies an adult dose and summarizes a medical study of 20 patients.  
• What to Do About Your Brain-Injured Child
• Moderate to Profound Intellectual Disabilities – Resources List
• National Association for Child Development (Bob Doman)
• The Institutes for the Achievement of Human Potential (Glenn Doman)
• Kids Beyond Limits: The Anat Baniel Method for Awakening the Brain and Transforming the Life of Your Child With Special Needs

8/18/13 Update:

In addition to coconut oil, coconut milk can be added to the diet. This is more palatable for oral eaters. But it takes a lot more coconut milk to get enough of the coconut oil fats for the desired serving. I have no recommendation on quantity, check with your nutritionist.

Some people have coconut allergies and intolerances, especially if there is a known tree nut allergy. If digestive issues get worse, stools contain white areas or become colorless (due to going through the digestive tract too fast and lack of bile/absorption issues), etc., then stop using the coconut oil/milk immediately. Spreading out the oil or milk across multiple servings might help if it increases motility a little too much. Also, it looks like some celiacs are allergic to coconuts too. Here is a great summary on coconut intolerance. http://www.hemocode.com/wiki/Coconut-intolerance

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!

Uniparental Disomy and Karotypes

Day 29: Uniparental Disomy

On our 29th day of MARCHING into TRISOMY AWARENESS we are going to share a little bit about UNIPARENTAL DISOMY. Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copies from the other parent. UPD can be the result of heterodisomy, in which a pair of non-identical chromosomes are inherited from one parent or isodisomy, in which a single chromosome from one parent is duplicated. Because it may lead to the duplication of lethal recessive genes, isodisomy is potentially dangerous, while heterodisomy is essentially benign. This can also be the result of a TRISOMY CELL RESCUE (also known as trisomy rescue or trisomy zygote rescue) a genetic phenomenon in which a fertilized ovum containing three copies of a chromosome loses one of these chromosomes to form a normal, diploid chromosome complement. If both of the retained chromosomes came from the same parent, then uniparental disomy results. Share because you care...we did ♥

Day 30: Karotypes

On our 30th day of MARCHING into TRISOMY AWARENESS we are going to share a little bit about KAROTYPES A karyotype (Greek karyon = kernel, seed or nucleus) is the number and appearance of chromosomes in the nucleus of a eukaryotic cell. The term is also used for the complete set of chromosomes in a species, or an individual organism. Karyotypes describe the number of chromosomes, and what they look like under a light microscope. Attention is paid to their length, the position of the centromeres, banding pattern, any differences between the sex chromosomes, and any other physical characteristics.The preparation and study of karyotypes is part of cytogenetics. The study of whole sets of chromosomes is sometimes known as karyology. The chromosomes are depicted (by rearranging a microphotograph) in a standard format known as a karyogram or idiogram: in pairs, ordered by size and position of centromere for chromosomes of the same size.The study of karyotypes is important for cell biology and genetics, and the results may be used in evolutionary biology and medicine. Karyotypes can be used for many purposes; such as to study chromosomal aberrations, cellular function, taxonomic relationships, and to gather information about past evolutionary events. The normal human karyotypes contain 22 pairs of autosomal chromosomes and one pair of sex chromosomes. Normal karyotypes for females contain two X chromosomes and are denoted 46,XX; males have both an X and a Y chromosome denoted 46,XY. Any variation from the standard karyotype may lead to developmental abnormalities. Share because you care...WE DID ♥

Dicentric Chromosomes, Centromere Positioning, Autosomes & Allosomes

Still catching up! Days 26 - 28. See Hope for Trisomy for more educational posts!

Day 26: Dicentric Chromosome

On our 26th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about a STRUCTURAL ABNORMALITY that we have not mentioned before. A DICENTRIC CHROMOSOME is the result of a rearrangement that places two centromeres on the same chromosome. The interaction of radiation with these chromosomes causes the break and then it becomes unstable, which often involves a loss of some genetic material. The formation of a dicentric chromosome is highly specific to ionizing radiation and its frequency serves as a measure of radiation exposure received by a person. In the event of higher exposure to radiation, such breaks may occur in more than one chromosome. Share because you Care. ♥

Day 27: Metacentric, Submetacentric, Acrocentric, and Telocentric Centromere Positions

On our 27th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about four types of chromosomes based on the position of the centromere. The four types are Metacentric, Submetacentric, Acrocentric, and Telocentric. Metacentric is a type of chromosome having two equal arms because the centromere is in the median position. Submetacentric is a type of chromosome where the centromere is slightly away from the centre and therefore chromatids of one side are a little longer than the other side. Acrocentric is a type of chromosome where the centromere is located closer to one end and therefore the chromatids on the opposite side are very long. The small round structure is referred to as a satellite, and the thin strands at the satellite region are termed the Nucleolar Organiser Region. Telocentric is a type of chromosome where the centromere is placed at one end of the chromatid, hence only one arm. The telocentric chromosomes are not seen in human cells. Share because you Care. ♥

Day 28: Autosomes and Allosomes

On our 28th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share about the chromosome types that are divided into two categories, those being the AUTOSOMES and ALLOSOMES. AUTOSOMES are the structures that contain the hereditary information. They do not contain the information related to reproduction and sex determination. Autosomes are identical in both male and females. The human body contains 22 pairs of autosomes. An ALLOSOME is a sex chromosome that differs from an ordinary autosome in form, size, or behavior. The X chromosomes are present in the ovum and either the X or Y chromosome can be present in the sperm. If the offspring receives one X chromosome from the mother as well as father, it results in a female child (XX). If the offspring receives one X chromosome from the mother and one Y chromosome from the father, it results in a male child (XY). It is the donation of the X or Y chromosome by the father that determines the sex of the offspring. Since only males have a Y chromosome, then there must be a gene that makes the individual a male. Scientists have identified and isolated this gene and have termed it the SRY gene. Interestingly enough, this gene does not activate until 6 weeks after conception. Once activated, female structures are destroyed and the individual develops as a male. Share because you Care. ♥

Trisomy Awareness Month Catch Up Time! (Days 23-25) Insertion, Deletion, and Duplication

Illness hit our family - that wonderful stomach bug that lasts for days. And, unfortunately, I was the one having to take care of everyone! We survived just in time for our spring break week. But we went out of town and were without Internet or PC, so I couldn't continue the posts. So I am catching up! These excellent summaries are posted on our Hope for Trisomy Facebook page. Please become a fan!

Day 23: Insertion

On our 23rd day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share a little more about the STRUCTURAL ABNORMALITY called an INSERTION. An insertion is when a portion of one chromosome has been deleted from its original place and inserted into another chromosome. Insertions can be anywhere in size from one base pair incorrectly inserted into a DNA sequence to a section of one chromosome inserted into another.The insertion changes the number of DNA bases in a gene by adding a piece of DNA. As a result, the protein made by the gene may not function properly. Insertions can be particularly hazardous if they occur in an exon, the amino acid coding region of a gene. It can possibly result in any number of genetic disorders depending on the gene in which the insertion occurs. Share because you Care. ♥

Day 24: Deletion

On our 24th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share a little more about the STRUCTURAL ABNORMALITY called DELETION. A deletion occurs when some genetic material is lost when a chromosome breaks. A deletion can occur on any chromosome, at any band, and can be any size (small, medium or large). How big a piece is missing and what genes are missing in the section will depend on what the deletion causes. Small deletions are less likely to be fatal. Medium-sized deletions can lead to disorders like Williams syndrome. Large deletions are usually fatal, and there are always variations based on which genes are lost. Deletions are responsible for an array of genetic disorders, including some cases of male infertility and two thirds of the cases of Duchenne muscular dystrophy. When there is a deletion in part of the short arm of chromosome 5, this results in Cri du chat syndrome. A chromosome deletion causes many different disorders. There are also many different symptoms and severity of symptoms depending on which chromosome was deleted and how much. Here is an example of a chromosome finding; 46,XX,del(14)(q23)
This means...a female with 46 chromosomes with a deletion of chromosome 14 on the long arm (q) at band 23. Share because you Care. ♥

Day 25: Duplication

On our 25th day of MARCHING into TRISOMY AWARENESS MONTH, we are going to share a little more about the STRUCTURAL ABNORMALITY called DUPLICATION. A chromosome duplication is the doubling of a chromosome piece. A duplication can have the production of one or more copies of any piece of DNA, including sometimes a gene or even an entire chromosome. A duplication is sometimes referred as a 'partial trisomy'. This means the individual has three copies of that area instead of two. Therefore, there are extra instructions (genes) present that can cause an increased risk for birth defects or developmental problems. Charcot-Marie-Tooth disease type I is a disease related to a chromosomal duplication. Here is an example of a chromosome finding; 46,XY,dup(7)(q11.2q22) This means...a male with a duplication of chromosome 7 on the long arm (q) between bands 11.2 to 22. Share because you Care. ♥

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.