Trisomy Awareness Day 30

For Day 30 of Awareness, we would like to share another touching story that really shows what Trisomy Families is about: Uniting and Supporting.. 

In March, 2012, my husband and I were elated to find out we were expecting our first child. During a routine ultrasound on July 31, at 25 weeks, we were told there were some concerns with the findings. We were immediately sent for a level III ultrasound, which showed many markers for trisomy 18. The two biggest concerns were her heart and brain defects. We opted to have an amniocentesis, which confirmed our biggest fears: our daughter had trisomy 18. Soon after the diagnosis, I began researching and finding organizations for families with trisomy diagnoses, one being Trisomy Families. As soon as I was added to their facebook group and told my story, I had a new “family” that could honestly say they knew what I was going through. Much to my surprise, I found many parents with trisomy children living in their teens, something that online research and the medical community told me were pretty much impossible. Not only were there parents with living children in this group, but there were also angel parents and ones currently expecting a trisomy child. Very few women know what it is like to enjoy every moment you have during a pregnancy and grieve for the child you are carrying at the same time; these women did. I knew that no matter where I was in my journey, there was always going to be someone there I could talk to. After reading the stories and talking with other parents on Trisomy Families, we decided to let our daughter determine her own fate, and we would cherish every moment God gave us with her. Due to the severity of her heart and brain defects, we chose comfort care for her. Our main goal was to meet our daughter alive. On November 6, 2012, I gave birth to a beautiful baby girl, Kinsey Christine, via c-section; she weighed 4 pounds 10 ounces and was 17 inches long. 
Soon after I had her, I posted an update on Trisomy Families. The number of responses and words of encouragement were amazing. The response that really stuck out to me was from Kelly Whistler. She sent an in depth message to me with suggestions for interventions for every concern we had regarding our daughter. These were suggestions that had not even been offered to me. Kinsey passed away shortly after I was able to address these interventions with the physician. We were blessed with 23 amazing hours with our daughter. Although she wasn’t with us long, she made an impact that will forever change our lives and the lives of many others. Next came the devastating part of funeral planning. When deciding on where to send her memorial money, I came in contact with Marta McClanahan. She told me that their organization was just getting started. She then explained their mission and that they were currently working towards becoming a 501 (c)(3) organization. This group goes above and beyond to advocate for these children and support the entire family along the way. Due to the help they provided me, I knew this is where I wanted to donate Kinsey’s memorials. I wanted her memory to live on in a way that could help other families dealing with trisomy, no matter where they were in their journey. 
In March of this year, I was lucky enough to attend the Trisomy Families Celebration in Minnesota. The excitement I felt meeting the people who understood the journey I had been on was indescribable. I was finally meeting some of the people whose children’s accomplishments I had celebrated or losses I had mourned. This trip was very therapeutic for us as a family. Chinese wish lanterns, with messages to our children, were released for all the babies gone too soon. We were also able to attend a bereavement group to share memories through stories and pictures of our children. Our angel babies were even included in the slumber party with their names on stars, hanging from the ceiling. It was such a wonderful feeling having so many people affected by trisomy in one place. There is so much joy in meeting children that are thriving with trisomy. My experience with trisomy has not been an easy one, but because of Trisomy Families, I haven’t had to go through it alone. During this event, I realized how lucky I was to have found a trisomy family, and we made memories that I will cherish forever. 
with~Lindsey Woodford

Trisomy Awareness, a small and very Blessed world!

For Day 29 of Awareness, we would like to share a story that really shows what Trisomy Families is about: Uniting and Supporting.. This a story of 2 moms brought together by Fate, Chance or Divine Intervention, or whatever you may to call it, there is no denying that these Moms we destined to be friends and sisters at heart.

Janet and Whitney (as told by Janet):
I started following Aralyns story when she was just a baby, long before I ever had a trisomy pregnancy of my own. Last year when Whitney was trying to get to the TF Celebration in Florida I had an auction on facebook and sold some hairbows I was making at the time, with all proceeds going towards Aralyns trip to Florida. After that, Whitney and I began talking more frequently. In September I found out the baby girl that I was carrying was also a Trisomy baby. Allison had Trisomy 13. From what I had learned from Whitney and Aralyn, it made the choice easy to decide to carry through with my pregnancy and to know that the doctors were not always right. Had I never met Whitney I would have been very lost during that time, but from the strength I learned from her, I fought through making the best choices I could for my daughter. I was placed in the Trisomy community long before I knew I would become a part of it by following Aralyns story.

Allison’s Story:
In May 2012, my husband and I were overjoyed to find out that we were expecting our second child. We found out that we were expecting our second daughter later that summer and we were over the moon. We couldn't wait for our oldest daughter Olivia to have a sister. We were dreaming of them staying up late at night whispering and being the best of friends. On September 20, 2012 our worlds were turned upside down. We went to get our 20 week ultrasound just to measure growth and get another look at our little girl. We got much more than we bargained for. Our daughter had many complications. She had 2 heart defects, a problem in her cerebellum and a cleft lip and palate that they could see. From following my friend Whitney's daughter Aralyn, as soon as they told me they were markers for Trisomy, I knew we were in for the battle of our lives to get some time with our daughter. All I wanted to do was get out of there and speak to my OBGYN. I went to her office after my ultrasound and she just held me as I sobbed. We decided we were going to go to a specialist and find out what we were dealing with. We got Maternit21 testing done because I would not risk a miscarriage, and also from learning the little bit that I knew about the Trisomy community, I also knew we wanted an IDEA but not an DEFINITIVE diagnosis. Once these babies are diagnosed, their diagnosis begins to "define them". I refused to let anyone define my child as anything other than Allison Ann. Her life was precious to me and I was going to carry her and love her for as long as I could. The specialist offered termination. Obviously I said absolutely not. We waited a few weeks for the results of our blood work, and my OBGYN called me with the results - Trisomy 13. We knew this was bad. Really bad. We went back in to the specialist after our results to firm up a birth plan, to find that our appointments with the fetal cardiologist and neonatologist were cancelled. We were told we could have her wherever we wanted we didn't need to have her there. A NICU wouldn't save her. If I had her alive, it would be only a few moments until she passed, but not to even count on that. I went home resigned to this idea, that my baby would just die, likely in my womb, and I couldn't do anything about it. I got ahold of Whitney and we talked more about it. I realized that the reason she had Aralyn was because she didn't give up. They told her all of these same things. I couldn't give up on my daughter. She was kicking wildly inside of me, and everyone was treating her as if she were dead already. I called my OBGYN and my Pediatrician and we talked. We decided to go to another specialist. A completely different hospital. We told them what her diagnosis was and they agreed to helping me get EVERYTHING I wanted out of my pregnancy and my time with her. I just had to decide what it was that I wanted. First and foremost I didn't want her to suffer any pain. I wanted her to feel love and be nurtured first before anything was done to her. Secondly, I wanted to meet her ALIVE. I wanted to tell her I loved her and feel her warm skin on mine. I wanted the breath of life for her. My OBGYN then committed to making sure that happened for me. We began going to the specialist once a week and getting BPPs on her. Things were going very well in my pregnancy. She was moving and growing and practicing her breathing in my womb. At this time we decided we need her plan for after birth. We wanted to hold her, love her, and then after some time with her, have her evaluated. We knew her problems were extensive and if she only lived a short time, I wanted it all to be with me. If she were thriving on her own, we would have her sent to the NICU the next day and start a "plan" for getting her home. All I had to do was get her here alive. In my 35th week of pregnancy, Allison stopped moving in my womb. I had a BPP scheduled and I was terrified she had passed. 2 days had gone and I was afraid to go find out what had happened. Miraculously, her heart was still beating! It wasn't as strong as it used to be. They watched her for a very long time, coaching her, talking to her, having me move in different spots, giving me juice to drink, and nothing. She was failing. They hooked me up to an NST and she failed that as well. Her heart wasn't accelerating. Then they called my OBGYN and put me on the phone with her. I had a choice to make. If I wanted to meet Allison alive, now was probably the best time to do it. If I kept going, she may be stillborn, which still is a thought I cannot fathom. They were ready to admit me and begin my induction immediately but I couldn't do it. I had to think. I asked if I could go home and come back the next day. I thought maybe Allison would get better. My doctor said there was no harm in it, but if I changed my mind at any point in the night to call her and she would begin the induction. I went home and packed all of our bags. I spent some time with both of my little girls and prayed. I asked God to let me know if it was truly time. If she would just move once I would continue the pregnancy. She never did. I went to the hospital at 9am on 12/21/12. They checked her heartbeat, and it was still there, so the induction began. I gave birth to Allison Ann Scheller on 12/22/12 at 4:10 a.m. She was 4lb 13oz and 18 inches long. She came out CRYING! They told me she may never cry - but she did! Just moments after she was out, she was baptized by my pastor who spent the night in the hospital with me. Friends and family filed in 2 at a time to see her for a moment. We didn't know how much time we would have. Just shortly after her birth, she began gurgling and her heart rate dropped to 30. They brought the Peds in who told me these were signs of the end of life. I grasped her and started screaming at God that he could NOT have her. She was MINE. I begged and cried and screamed as my pastor prayed over Allison and me. Somehow, Allison recovered from this and held on. She lived for 24 hours and 15 minutes before falling asleep in my arms and waking in the arms of Jesus. If I could say one thing about carrying and loving a Trisomy baby is that it is WORTH it. The unconditional love they teach is incredible. If you get them for a moment or for many years, they can teach you so much. I feel blessed to be chosen to have one of Gods miracles, even if it was only for a short time. My daughter not only knew love - she taught love. She taught me to love in a way I never knew. She continues to touch people even after her time here was done. She was a joy, and I wouldn't change her for anything. Trisomy never defined her. She was Allison Ann Scheller. And her life was a miracle.

Janet and family met Bunny and her mom in person, at the Trisomy conference and Celebration this month! 

Ketogenic Diet and harm in lack of management

While I love and believe in the diet, I am having a heck of a time finding a complete team to help monitor it! 
1. Kayli was admitted into the hospital (to start) and was given an adult ketogenic team whereas she is only 3 years old and should have been placed with a pediatric team. 
2. The adult dietitian was not given a nurse to help monitor Kayli (and the neurologist only monitors seizures...she signs orders that the dietitian gives). 3. My daughter was slowing dehydrating because she was not given appropriate fluid intake guidance. 
4. The incomplete Keto team did not guide us (even when I asked of the complications the diet can cause) with a surgery pre-op fasting and Kayli went into de-compensated heart failure, and severe dehydration as a result. 
5. The quick fix was to push more fluids, which we just found out pushed Kayli into bladder retention (it wore out her bladder muscles and now she can't pee). 
6. I had to beg to get my daughter into the pediatric clinic and then was told by the scheduler that only the neurologist would be there...there is no real pediatric clinic ??? 
7. I called the founder of the Charlie Foundation (Charlie's dad) and he connected me with Beth (the CF expert dietitian). She happened to call me back when I was on the phone with the hospital and suggested previous night admission for the next surgery, so Kayli could get IV fluids while fasting for surgery prep., a GREAT solution!! :D She tried connecting us with help but was only able to get the adult dietitian involved...bless her (adult dietitian) heart, but she admittedly does not know what to do at this point and does not have the nursing support to help Kayli. 

The adult dietitian contacted the pediatric clinic (apparantly there IS one, and the scheduler has no idea it exists???). The dietitians talked and it was agreed that the pediatric dietitian would be involved. The day of the appt, I accidentally went to the wrong hospital (my auto pilot took me to the hospital we visited 3 times last week instead of the hospital we were supposed to go to for the keto appt...please tell me this has happened to someone else! lol). We were 30 min late, and the neuro came out to the waiting room, reaming me out about being late and said she can't see Kayli because we were 1/2 hour late...I can either wait all day, or come back at the end of clinic. I told her that I take full responsibility for being late, and it's ok...Kayli's seizures are fine, we just need to see the dietitian at the scheduled time (an hour later).  Kayli was not able to stay to the end of the day because we did not prepare for that: 
1. Kayli did not have her medications, nor food for the entire day 
2. Kayli's nurse shift change was during the time the dr wanted us to come back/stay until 
3. I have my boys at home who need me too and I had not planned the day to stay into the evening.
  
The dr told me we aren't allowed to see the dietitian because we didn't see the neuro (and she would not see us until after clinic). An argument ensued (in the waiting room!), and I told the dr how desperate I was to talk with the dietitian because Beth at the Charlie Foundation and I agreed Kayli should not be loosing weight like she has...she is starving! Kayli has lost 5+ lbs in the last 2 weeks, likely because she is only getting 270 calories a day. The neuro told me that if I am concerned about her loosing the weight, I need to take my daughter to the ER! ???? The ER professionals are not trained to manage the ketogenic diet....

So...Rush university hospital's keto teams, with their lack of organized support, have repeatedly harmed my daughter while on this diet, and are now refusing to help her. I have lost faith in their practice with the Ketogenic diet...Kayli deserves better treatments and monitoring! 

The only 2 other clinics in IL are at Children's and CDH...both who have made it very clear that my daughter is not welcome there.  She is refused treatments/given DNRs without our consent because she has Trisomy 18. The hopsitals claim their futility policy on Kayli, and make private agreements to give Kayli slow code. Many dr's and nurses in their PICUs (pediatric intensive care units) have blatantly told us that Kayli needs to go home to die, and we need to stop feeding her to make her die.  Kayli (because of her Trisomy 18 diagnosis) is not welcome to receive treatments in their care. In time, I will write another blog, of hospital futility policies, and slow codes. 

So... on my own, I am trying to slightly increase my daughter's calorie intake but I fear it is taking her out of Ketosis. My daughter's seizures have greatly decreased, but I may have to take her off the diet because I cannot find a competent team to monitor her while on it! And... it is not safe to take her off the diet without help (weaning). We are stuck for now. My daughter has faced heart failure and is now facing surgery for the bladder issues, and was starving all because of the lack of help while on the ketogenic diet.

Yesterday, according to Kayli's day nurse, her heart stopped/slowed twice so I called the cardiologist's office. They are both out of town for the weekend, and the on call service is an out service from CDH...Kayli is not welcome in the CDH PICU. So I called Kayli's PCP and he is out of town for the weekend, with only a np to cover the weekend shifts. Fortunately, I am able to get the BNP (not BMP) order sent to our local hospital (it tells what level of heart failure she is in). Our weekend back up plan is to call 911 and have Kayli taken to another local (and respected) hospital for cardiac care while her specialists are out of town for the weekend. Fortunately, since the 3 heart rate drops, Kayli's heart rate has been consistently stable. :D 


Kayli's prescribed diet is: 28 grams Ketocal, 7 grams Beneprotein, 5ml of 100% MCT oil with 1400 cc's fluids daily. She was getting 1800 cc's of fluid until we realized Kayli was in bladder failure/retention. For the last 2 days, I increased her Ketocal to 29 grams (up 1 gram) and her Beneprotein to 9 grams (up 2 grams) and kept the fluids and MCT oil the same which stopped her weight loss, but minimally dropped her ketone level (she was only at 5 previous to this change and now is somewhere between negative and 5). Today, I put her back on the 28/7 formulation, but increased her MCT oil to 15ml (increased her calories by 67). Kayli weighs 27 lbs (the diet was set at 31 lbs). Disclaimer: I do NOT recommend anyone to follow or attempt to follow Kayli's Ketogenic diet restrictions.  Each person metabolizes differently, and has health conditions unique to them...so their diet should also be as unique as they are.  

As of last night, I have spoken with a local dietitian (where Kayli will be going to when they are ready for her) and she is aware of Kayli's current diet changes I made. We should hear more about what the local Keto team can do for Kayli, on Monday. I agree, it's best to take her off if we don't have a supportive team....but it takes another inpatient to wean her off (and again...a support team to guide us). This is not the weekend to take her off because we have no support to do so. Hubby and I agreed that although her seizures are so much better while on the diet, it may be causing too much on her other body systems (without the support for the Keto diet). If we do not get any solutions next week, we will be asking for support in getting her off the diet until a better support team is formed for her. Kayli's epilepsy specialist has mentioned his dietitian at U of C is trained and has experience in the Keto diet. After this weekend, when all Kayli's specialists are available, we will be further contemplating 1. going to U of C with a new team 2. going through the local hospital with outside help (this local hospital will be ready to take on Kayli in a couple of months) 3. taking Kayli off the diet until the local hospital is ready to take on Kayli without outside help.  

It has been a nerve racking couple of days, but Kayli had a great night (although she has reversed her sleep from nights to days! lol).  She is stable and doing well.  With the adjustments I have made with her diet (disclaimer: I do NOT recommend anyone making adaptions to the Ketogenic diet on their own), Kayli's ketone levels are finally increasing, and she no longer appears tired or lethargic. :D  

She has an appt the week after next, for an Urodynamics test to help figure out what is wrong with her bladder output.  Her kidneys have already been tested (ultrasound and BMSA) and all looks great with her kidneys and function! :D  

This post was not intended to bash any particular institution, nor person.  It was intended to update Kayli's followers, and tell of her personal journey on the Ketogenic diet.  

Kayli's 4th Birthday and Card Celebration is April 21st

Next month, Kayli will be turning 4 years old.  It's bitter sweet to look back and think of all she endured,while enjoying the borrowed moments, life lessons, and testimony of miracles that came of the challenges in her life.  As I reflect on her birthday to come, my shoulders pull back with pride, my cheeks puff up supported the wide smile on my face, and I look to the heavens with sweet breaths of "Thank You's".  

Kayli has touched so many lives in testimony of God's love for her.  Kayli has taught us all, the true meaning of life, love, and peace.  No matter the challenges in our lives, it is God's way of Blessing us with the lessons of life, love, and eternal peace to while on Earth. What a sad world it would be, if we were all the same, and never had challenges or opportunities to set apart from others.  We are each God's beloved creations, made to lean on our Faith in Him.  If you look deeply into your own daily life, you will see God's plan for you.  The streams, the trees, the flowers, the butterflies...each has a purpose in supporting your plan of life.  Everything is created for you.  The rain may dampen your outdoor plans for the day, but the water gives life to bring the flowers to bloom and birds to sing for you...another day.   When you plan out your life, do your best and give God the rest.  Do not feel dismay as your plans stray, but rejoice that God is guiding you in HIS plans for your day.  

If someone in traffic cuts you off... do not be angry with them, but pray for them.  While your heart races, let it be in anxious prayer...for the driver may be slowing you down so that split second down the road, saves your life.  The offensive driver could be preoccupied with stressors in their daily life, and God placed you there, knowing you would be the one to keep them safe with your excellent driving skills.  The driver could be a single parent, rushing to a second job, fearful of loosing it, all because the babysitter was late.  It may weigh heavy on the driver's mind, that if the job is lost, the children would certainly go without food or shelter.  It is not for us to judge.  We are to pray in support of our fellow brothers and sisters...especially in their time of need.  We shall have faith in our Lord, and His plans for our day.  Rejoice in the borrowed moments, and in the opportunities to help others.  For those moments and opportunities define your everlasting life and love.  

With love for my daughter, and the lives she has touched, I would like to celebrate her 4th birthday in a big way!  While I have not had the chance or funds to plan a great gala for her, I would like to have a grand celebration with cards!  But I need your help in doing so.  

Please consider sending a birthday card to Kayli.  Handmade cards are preferred.  The card can be as simple as a paper saying "Happy Birthday Kayli", or as elaborate as your picture, your favorite bible verse, what God and/or Kayli means to you, how Kayli has touched your life, or your story of God's love for you.  

Kayli's birthday is April 21st, so we have a month to make this birthday a grand celebration of her 4 years of life with us!  

Please send Kayli's birthday cards to Po Box 2 Cary, IL 60013

Thank you, and may God Bless you with another day of love and challenges! 

Kelly Whistler

Surgery is cancelled

Kayli was down in Pre-op, the nurse was getting report, and the surgeon cancelled the operation....Kayli's Uralysis came back positive.  Although she was tested days ago and was cleared, she now has a UTI.  :-/  It is never a good idea to go into a surgery with an infection, so Kayli will be going back home today without the chest port surgery.  I am thanking God, because although I do not know the reason why, I can't help but think it just wasn't meant to be today. Thank you Lord, for protecting our daughter. Amen 

Kayli at the hospital, surgery in the morning

Kayli is admitted to the hospital and is doing well!  Her 2 youngest brothers said their goodbyes, and shed tears.  It is always sad when our family has to separate while one of us is in the hospital.  :-(  

Kayli can be a difficult stick (hard to get a needle in a vein).  This is the reason she is getting her port replaced.  I was rearing up for a treacherous night of pokes as the anesthesiologist tried to get an IV in Kayli.  He was not able to access Kayli's veins before he was called off to surgery, stating he would be back towards the end of the night (after surgery) to try again.  

In the meantime, I asked the NICU (Neonatal intensive care unit) nurse to come try.  Cindy came to Kayli's bedside immediately, with an "I can" attitude, and accessed Kayli's port with the first try!  :D  

Kayli's surgery is scheduled for 7:30 am (first case), so there is minimal chance of delays.  

Jacob with his 2 new ferrets, Kayli, and Niko with his hamster

before Kayli left for the hospital.  Kayli sleeps as EVERBODY says "see you tomorrow!" lol

Kayli sleeping while waiting for her IV line to be put in. 

Trisomy Awareness Day 23, Translocation

For Day 23 of Trisomy Awareness we would like to highlight another Chromosomal disorder that often appears within the Trisomy Community: Translocation.. 

Balanced Translocation is when there is an equal exchange of genetic material between 2 or more chromosomes.

Unbalanced Translocation is when there is an unequal exchange of genetic material between 2 or more chromosomes, resulting is duplications, deletions, and sometimes Trisomies.

Either of these types can appear with or without the presence of a Trisomy, and they are sometimes a separate disorder from a Trisomy.. There are also cases of a Trisomy where the 3 chromosome is translocated (i.e. an extra 18th chromosome is attached to the 10th pair).

Trisomy Awareness Day 23, featuring Carsten’s with a Translocation!

After a very uneventful pregnancy with no indications of any problems, Carsten came very quickly at 37 weeks. He wasn't breathing when he was born and only weighed 4lbs 12oz. The first time we saw him in the NICU, the doctor suggested genetic testing because of his small size, wide spaced eyes, low tone and hypospadious. In a couple of weeks we found out he had a unbalanced translocation with a deletion on 10 and a duplication or partial trisomy on 2.
When he was 1 month old, he had surgery to remove an intestinal blockage and place a g-tube. He did not recover well and things got much worse before they got better. At 2 months old he was finally strong enough to come home, but it seemed like new problems kept appearing... tethered spinal cord, hearing loss, labored breathing, vascular ring, sleep apnea. We just dealt with each one as it came up and held our breath for the next issue. Eventually things have settled down, and Carsten seems to be thriving.
At 2 years old, he can sit up on his own and has just barely started crawling. He loves flipping through books and being tossed on the couch by daddy. He is not verbal but is learning a few signs. His favorites are "more" and "music." He is still tube fed, but was able to take a few tiny bites of cake at his birthday party. We feel so blessed to have such a sweet, affectionate, easy going child, even if it means lots of challenges along the way.

Surgery adaptions for Ketogenic Diet patient

In February, Kayli had an elective surgery to help straighten her club feet (so she could get a decent ankle correction in order to stand).  In the preparations for surgery, we were told to stop Kayli's feeds and then fluid intake (a common pre-op instruction).  Kayli is on the Ketogenic diet (which is helping decrease her seizure activity) and is at high risk for dehydration when on this diet.  Unfortunately, taking her off fluids for more than 4 hours can/did cause life threatening consequences for Kayli.  Now that we are aware of the adaptions Kayli needs with the pre-op instructions, we are better prepared for her next surgery! :D  Kayli will be admitted the night before her chest port surgery (scheduled this Monday).  She will be getting her non-working chest port removed, and a more effective, universal chest port will be implanted. Please say a prayer for Kayli and her medical team.  Dear God, we ask that you guide the surgeon's hands as he uses the skills You granted him.  Lord, we ask that You protect Kayli from harms way, comfort her as she heals, and grant Kayli's family and friends Peace as we lean on our Faith in You.  In Your name we pray, Amen. <3 

Kayli in her swing today

Summary of Kayli's current medical challenges

With so many things going on at once with Kayli, I thought is best to break it all down into paragraphs for easier reading. 

Heart failure:  Just weeks ago, Kayli's heart rate was elevated, an Echo (heart ultrasound) was performed, and we were told she is in heart failure. To clarify, Kayli has technically always been in heart failure.  She has CHD, or congenital heart disease, because her heart was malformed (she had many holes in her heart, and blood flow was not typical) when she was born (a common characteristic of all Trisomy Syndromes).  Although she was in heart failure since birth, it was considered to be a compensated heart failure, meaning her heart was not stressed and was adapting to the heart function God granted her.  Weeks ago, Kayli was evaluated to be in De-compensated heart failure.  This means that her heart was not able to compensate for the poor function.  She was declining and we were unsure as to how she would fair with a heart function so poor.  Kayli's medical team rushed to put a care plan together to support her heart (a hard task with the Ketogenic diet to complicate fluid and carb intake).  Once Kayli's casts were taken off, her heart rate started to come back down (little stinker REALLY does not like casts on! lol).  She was not out of the woods yet, but this was a good sign that she may pull away from the slippery slope of de-compensated heart failure.  To further explain the de-compensated heart failure...I need to move on to the next complication she is dealing with...her abdomen.  

Bulge in Abdomen:  When Kayli was about 7 months old, at our request,  a surgeon attempted to put a G-tube (feeding tube) in Kayli's stomach.  Instead, the surgeon perforated Kayli's bowel and placed the G-tube in her colon instead of her stomach.  Many corrective surgeries later, Kayli is at high risk for bowel obstructions because there is much scarring in her abdomen now.  Fast forward to about a year ago.  Kayli developed a slight bulge in her right side abdomen.  And as she grew in size, her abdomen girth grew with distension.  In the last couple of months, her abdominal bulge has grown greatly.  Last week, she was given an X-ray (with no answers) and then an ultrasound, to figure out why the bulge and abdominal distension was increasing in size.  The radiologist was called into the ultrasound room (never a good sign) and determined Kayli appeared to have a rather large mass in her abdomen.  Upon further contemplation, he recognized that he did not see Kayli's bladder and thought there was a minimal chance that the large mass was actually an obtrusively large and greatly filled bladder.  Rather than seek immediate medical attention for the mass, the radiologist asked if he could call the pediatric team to the ultrasound room and attempt a catheterization to see if any blood or urine would come out.  If so, and the mass shrunk, then it would be determined the mass was actually a grossly exaggerated bladder. Kayli was cathed, and 750 cc's of urine was taken out!  A typical full bladder in a child her size, is 125 cc's!  The ultrasound was done again, and the mass was no longer there! 

Once the urine was out of her bladder, the radiologist noted that Kayli's organs were back in typical placement.  Kayli's heart rate went back down to her baseline (normal), and it was determined by her specialists, that she was no long in de-compensated heart failure!  The grossly excessive fluid intake (for the Ketogenic diet) has exemplified the poor bladder function.  It is assumed that Kayli was not actually voiding (peeing), but rather had a continuously full bladder that overflowed.  The overflow was mistakened for voiding. While we are currently testing to figure out why Kayli's bladder is not emptying, the specialists have concluded the following: 

1. Kayli's bladder was pushing organs out of placement, and sitting on her arteries.  This caused stress on her heart, and pushed her into de-compensated heart failure. 
2. Now that her bladder is back to normal size, and her organs are not compromised, she is officially back into compensated heart failure! (This is great news!!!)  
3. Kayli's kidneys are appropriately formed, and continue to function well! 
4. The ultrasound shows an echogenic focus (spot) on her liver, thought to be a hemangioma.  The area of concern needs follow up testing. 

Current global medical challenges and plan of care:

1. Heart function: while in a good state right now, we as a team, have decided to support Kayli's heart with a medication, called Captapril.  The heart med. will not harm her, but may offer supplemental support.  Kayli's heart is now functioning as expected, and she is no longer in any danger. :D

2. Bladder: Kayli is to get a Urodynamics test to determine if she is able to push urine out (contract her muscles).  If she is not appropriately contracting her bladder muscles, we may consider one of the following treatments:
                   a. Continue straight cathing via urethra 
                   b. Surgically place bladder under her skin
                   c. Surgically place button in abdomen for catheterization (we would only need one person to cathe, whereas via the urethra, we need 2 persons). 
                   d. Medication to enhance bladder contractions

3. Spine: Kayli has significant Kyphosis, Lordosis, and Scoliosis.  A reputable surgeon has highly recommended that Kayli has surgery to correct her spinal deformities within the next 3 months.  Although surgery at such a young age is not common, his recommendations come from Kayli's concerningly rapid abnormal growth, crowding of her chest organs, and her current pliable (easier fixable) bone structures.  Kayli has an appt with an Endocrinologist to test for Osteomalacia (poor bone density).  Once the results of that come in, and the opinions of other Pediatric Spine Specialists conjoin, we will likely give Kayli the much needed surgery (with consideration of when she is at her best health). The surgeon has recommended a definitive spinal fusion but since this would reduce her longevity of life (her spine would stop growing, while her organs would continue to grow but now have space to function), we are opting for the growing rods surgery.  The growing rods surgery is a major preliminary surgery, with less invasive bi-annual surgeries to adjust the rods so they grow with her spine.  The risk of infection is greater, as she will need continuous surgeries vs. one surgery with the definitive fusion surgery.  

4. Chest port: With Kayli's Trisomy 18 diagnosis, comes narrow ear canals, airway, and veins.  Because her veins are so small (the size of a hair), and because she has had many surgeries (many of her veins are collapsed), it is in Kayli's best interest to have a chest port.  A chest port is commonly used with patients getting frequent chemo treatments, and will benefit Kayli, because it is a "port" that is already in a vein.  A tech simply needs to put the needle (to draw blood, or infuse medications) into the port to access a vein.  This means less needle sticks, secured access, and less pain for Kayli.  She currently has a chest port in, but does not work properly (we cannot draw back from it/get blood).  Kayli will be going in for surgery this Monday, for an outpatient surgery to take out the ineffective chest port, and implant a more effective chest port (it will not only draw back blood, but also support pressure for the contrast used in CT testing!). 

Please wish Kayli well, and pray for the surgeon, his supportive staff, and Kayli's comfort.

Thank you for your love, thoughts, support, and prayers! Hugs from Kayli and Family! <3  

Trisomy 21

Trisomy 21 Awareness day, or better known as, World Down Syndrome Awareness Day, featuring Grace!

My husband, Kevin, and I found out at 13 weeks in utero that our daughter, Grace, has Down Syndrome and also a heart defect that would require surgical repair. We immediately reached out to a support group that put us in touch with other parents of children with Down Syndrome. After meeting two sets of parents and their beautiful, happy daughters we grew excited for our child's future and potential. She was born in July of 2011, with only six days in the NICU. She had a successful heart repair in October of 2011, she went home with us in four short days. 

Grace has been nothing short of amazing to us from the beginning. She has a relaxed personality and great sense of humor. She is also extremely social and curious towards other people. It is hard to take her some where in a hurry because someone always stops to meet her. I am told it is her smile that catches the attention of others. Like other children born with trisomies, Grace shows us what she can do, we don't tell her what she can't do. She is walking, signing and learning how to talk. Grace has physical therapy every other week; speech and occupational therapy every week. We like to think of it as having help teaching us how to play smarter with Grace. She has both typical and special needs friends. 

Grace has taken us down a very unexpected but wonderful path. Written by. Lynn Grimmig Sullivan (aka Grace's Mom)

Trisomy 20

Trisomy 20 Awareness Day, featuring Nalia, with partial Trisomy 20! 


Nalia Marie Pekarek is diagnosed as having partial trisomy 20q and it is attached to the 17th chromosome. She is too young to know exactly what to expect from her chromosome disorder as far as developmental or other growth type issues she might have. Looking at Nalia for the most part you can't tell she has a chromosome defect. 

Nalia also has a very severe and complex set of heart defects. She has Hypoplastic left heart syndrome, dextrocardia and several other defects that she is being treated for. She had open heart surgery called ASD repair at 12 days old and was on the ECMO machine for 6 days following her surgery. 

The outlook for Nalia prior to birth was very bleak and even at birth the doctors really didn't expect much from Nalia. She has proven to be a fighter against all odds and is very alert when she isn't sedated from procedures and loves to listen to music and stare at her mommy and daddy.

Trisomy 19

Trisomy 19 Awareness Day, featuring Oskar, with Partial Trisomy 19!

On April 6, 2009, our little superhero Oskar was born. During my pregnancy, the doctors were keeping an eye on his heart. But, the bigger he got, the harder it was for them to truly know if there was anything wrong with him or not. He was born and we went home. Two weeks later, I take him to a follow-up cardiology appointment. What started as a routine appointment, ended up in a trip to the Janet Weis Children’s Hospital because something was wrong. On the outside, Oskar looked healthy. But, on the inside his heart was in danger. Most of the next 4 weeks is a blur. I think the only thing that kept me sane was the fact that I had to pump every three hours. At least, I was able to do something while he waited, sedated, until he could have surgery. On April 29th, the doctor performed a coarctation of the aortic arch (basically he had a narrowing of his aortic arch.) He was also diagnosed with Noncompaction of the left ventricle (his left ventricle is not fully developed, it is spongy).
Life returned to normal, until September 2009. Because he was healthy and growing, the patch on his aortic arch needed stretched to keep up with him. What should have been an easy non-surgical balloon dilation – turned into him coding on the table and then needing a blood transfusion. Apparently, Oskar is not so fond of being intubated and his airway is small. This lead to being on oxygen and lots of sleep tests. (I don’t know how they expect you to sleep with all of those wires and someone watching you) Long story short, he had sleep apnea.

Oskar was always frail and on the small side and had issues with reflux. This led to his next procedure(g tube and fundoplication) in August 2010. Well, the little man had so much swelling in his throat that they couldn’t intubate him and he began to code. To save his life, they gave him a trach. The little guy, who scooted around on his butt and said “what’s that?” was silenced, but alive. Life with a trach is a whole other story for another time. Sign language was a life saver until he could learn to speak around the trach. He was diagnosed with partial trisomy 19 or Duplication 19p13.3. So far, only 2 people are registered with this exact chromosome duplication. So, there is not much information out there in regards to what life is like with this trisomy.
His tonsils & adenoids were removed in November 2011. Then, May 2011, the trach is removed!!! He was speaking with the trach, but now all he does is talk and sing, and ask questions. We love every noisy minute of it! Today, he is a very active 3, almost 4 year old, who loves being in preschool. He works hard, most of the time, with his speech and PT. We continue to monitor his heart. He will most likely need something done this year. But, I am not going to fret because he is way stronger than me. And, he has proved every doctor wrong when they question his abilities.

Trisomy 18

Trisomy 18 Awarness day, featuring Natalie, with Full Trisomy 18! 

Natalie is full T-18. She will be 5 years old on May 19th. She had to have heart surgery in November of 09. She had a VSD (double outlet right ventricle), pulmonary stenosis, another small hole, and an obstructed valve that were all repaired at MUSC in Charleston, SC. She has an arachnoid cyst on her brain which has been stable since birth. Natalie may be delayed but she is absolutely amazing. She couldn't open her hands when she was little, but now she picks up toys and is in to everything she can get her hands on. She is not mobile yet, but I don't think it will be long since we started Hippotherapy, which she loves. 

Natalie has been in PT and OT since she was 3 months old. She now gets PT, OT, and speech in school. She goes to a special needs Pre-K class. She goes to school full time and loves it. She has learned so much since she started. She loves to be around other children, but we have to be careful because she is an avid hair puller! Natalie can sit up by herself now and can roll over. She is doing absolutely amazing.
They say Trisomy 18 is incompatible with life, but there is nothing incompatible with my child! She is beating the odds every single day and proving doctors and texts books wrong with every breath she takes. And I have to say that she takes my breath away. My child is truly a miracle from God and has a purpose on this earth. My kid is pretty AWESOME and I couldn't imagine life without her!!!!!

Kayli needs spine surgery

Kayli saw a pediatric spine surgeon today, to get an evaluation of her spinal conditions (Kypho-scoliosis).  The Surgeon stated Kayli has more than one spinal condition, and they are significantly affecting her health.  The following are her current curvatures and degrees:

Key: * = degree, T = Thoracic (middle) spine, L = Lumbar (lower) spine, S = Sacral (pelvic or Sacrum)

Kyphosis (outward hump in spine/hunchback look) and Lordosis (inward hump in spine)

1. T1-T9 =  -25*, +20* of Thoracic Lordosis at 45* Abn (this is secondary issue, caused by #2)

2. T9-L1 =  +85* (this is the most concerning issue and root of the primary curvatures)

3.  L1-S1 = -23*

This is a side view of Kayli's Kyphosis and Lordosis:  The pointed "hump" is #2 on the list above.  Above the point of the hump (going up to her neck) is #1 on the list above.

Scoliosis ( "c" shaped curvature from side to side of body)  Kayli has 2 Scoliosis curvatures.

4.  Scoliosis #1: The left curvature has a 54* at the T1-T12 that corrects at 40* when pulled straight

5.  Scoliosis #2: The right curvature has 68* at the T12-S1 that corrects at 40* when pulled straight

This picture shows her scoliosis pulled straight (a 40* correction).  Kayli's curvatures are much worse (than shown here) when she is sitting (with gravity).

The following I do not understand...yet! lol

PO is 20*,  Left HP is up, LL (lower lumbar?) is -52*, and TLF is 41*

The surgeon is recommending correction of her spinal within the next 3 months, because her spine is currently pliable and much easier to "fix".  It is not typical to be pliable/flexible with her complex conditions...Kayli is extraordinary (we know that! :-D).  Kayli's spine is rapidly and grossly worsening, so if Kayli does not get spine surgery soon, she will lose the opportune window of time and flexibility.  The following are options for Kayli, presented to me by the pediatric orthopedic surgeon:

Plan A: Do nothing.  Kayli will have a short life, shortened by the grossly abnormal cavity structure.

Plan B: Veptr titanium ribs.  Kayli would need good bone structure, with no underlying complex conditions.  Kayli's ribs are not only deformed (to compensate for the curvatures and crowded chest organs), but also appear to be very weak and fragile.  Her bones are so fragile, that the surgeon is referring Kayli to see a pediatric endocrinologist to further investigate a possible Osteomalacia or Osteopenia condition.  This plan is not a great choice for Kayli, because it would take time to correct the weak bone issue....and time is not on Kayli's side right now (she is fighting against time).

Plan C: Growing Rod Surgery.  Rods would be attached to the top and bottom of Kayli's spine (T2 and S1) and then lengthened over time.  Kayli would go back into the OR (operating room) every 4-6 months, to lengthen the rods.  Pro's = Spine is guided to grow in a proper formation.  Spine grows as Kayli does and makes proper room for Kayli's organs, which eliminates all current complications.  Con's = risk of infections, skin break downs, rods separating from spine, no bending in entire spine, under anesthesia every 4-6 months.

Plan D:  Definitive Fusion.  The surgeon fuses Kayli's entire spine to a rod.   Pro's = Most effective for  permanently stopping malformation of spine, less operations equally less risk of infections.  Con's = Kayli's spine will not be able to grow which means; when her organs and body grow there will not be enough cavity space and her lungs and heart will not have room to function.  This surgery puts a "cap" on Kayli's duration of life, but gives her immediate comfort and her organs a space to function for the near future.

We will be revisiting the surgeon in 3 weeks, with our decision for plan of care (POC), and the following results in hand; Endocrinology report, MRI (brain and spinal screening), and CT (occiput + pelvis levels).  We will also have an additional consult with one (or all) of 4 dr's that today's surgeon has recommended on getting additional opinions from (Dr. Betz in Philedelpha, Dr. Smith in Utah, Dr. Thompson in OH, and a dr at Shriner's...who has already called Kayli a Vegetable and refused to treat her).  Since we have already contacted a Dr. on the team at Rainbow Babies and Children's in OH...we hope to set up a conference call with that team, also including the Dr that today's surgeon recommended.

While driving home today, my mind was racing with the pro's and con's, of the decision we are to make of Kayli's care plan.  I asked God to give me guidance or a SIGN, and kept thinking..."what should we do?!!"  At a stop light, I turned to my left, and saw a man standing at the corner, holding a SIGN that said "Trust God". LOL  And that my folks...we shall do!  <3

Trisomy 17

Trisomy 17 Awarenss day, featuring Fiona, with Partial Trisomy 17! 

Fiona was born July 8, 2002. After 9 long months of bed rest due to a nearly complete placental abruption, we knew she was our miracle child. She was born healthy and strong and we named her Fiona “Grace” because we have her by the grace of God.

Fiona’s infancy was typical and she was a good baby! We began testing for her when she was almost two years old and not yet walking or intelligibly talking. When Fiona was over 3 we got her diagnosis of partial Trisomy 17 (p arm, 13.1-13.3 duplication). Geneticists told us they just didn’t know if she would ever walk or talk. Within a month after that diagnosis, Fiona took her first steps. After her physical therapist recommended we teach her sign language to help her visually put speech together, Fiona just took off. She learned to sign very well and our precious girl that only screamed and babbled at us began to talk. When Fiona was five, she was released from physical therapy and she is now climbing easily to the top of any playground.

Fiona is now ten years old and is in an inclusion classroom in the third grade. She is hard to describe in words. She is pure joy. Fiona is honest and loving and fun and silly and very, very, very… LOUD. She loves shoes and fashion. She rides horses (hippotherapy), plays on a special needs baseball team, cheers with a special needs competition team, and is a Girl Scout. Fiona has never known a stranger. She introduces herself to everyone she meets (anywhere any day!), compliments them on their clothes or shoes, and asks them to be her friend. She hugs her classmates when she arrives at school every day. Fiona can read and write and just learned to tie her shoes. She loves to dance.

Our family is complete with Fiona. She is the our only girl and quite the princess. Her older brother Mitchell (12) adores and cares for her. Her younger brother, Luke (8), is in the same grade as her and is a great role model and playmate. And Fiona is so proud to now be big sister to Desmond (5 months) and even feeds him bottles for us and dances for him. My husband, Don, and I are so blessed to have Fiona.

Trisomy 16

Trisomy 16 Awareness Day, featuring Charlotte and lily (sisters)! 

Our first child Charlotte was born on June 30 2005 after we discovered her diagnosis in utero. She had partial trisomy 16 and partial monosomy 9 and we were told to expect a stillbirth after choosing to carry to term. Charlotte had other plans and stayed to bless our lives for the next nearly four years and she was incredible! She was happy and sweet and we adore our little Boofus! Charlotte passed away from RSV in 2009. In 2010 while raising our baby Ella and expecting our adopted daughter Ava, we found out we were also expecting Lily, who would prove to have the same diagnosis as Charlotte. Lily was born October 2010 and we hoped she would follow a similar path as Charlotte, but again, she had her own plans and was only with us until february 2011. She was soft and sweet and well loved and we miss her every day. All our daughters have been miracles in our eyes and have made our family complete! We are so grateful for the time we had with Charlotte and Lily and the ways we have changed for the better because of them!

Trisomy Awareness Day 15

Trisomy Awareness day 15, featuring Gavin Paul!

Gavin was born on September 30th, 2011 at Madigan Army base near Seattle, Washington weighing 6 lbs, 5 oz. My pregnancy was normal except at 36 weeks when I developed HELLP syndrome and I had to be induced. Gavin developed pneumonia 3 days after birth and spent 8 days in the NICU. Gavin had difficulty with gaining weight at birth and at 8 weeks old started to have vomiting with feeding. At two months, Gavin’s pediatrician noticed an abnormality with Gavin’s head shape. We got referred to genetics and we discovered Gavin’s chromosome abnormality. Gavin’s duplication of chromosome 2q25.1-pter and chromosome 15q11.2-q14. It was also discovered that Gavin had sagittal craniosynostosis and he had surgery in March 2012 at Seattle Children’s. Gavin was home two weeks from the hospital and he started having seizures. Gavin’s seizures are now controlled with Keppra and Gavin hasn’t had a seizure since he was hospitalized. He has been diagnosed with Psosis (droppy eyelid) and one eye is weaker than the other. He will probably require glasses in the future. Medically Gavin is stable at this point with his weight being the biggest obstacle the doctors are watching.
Gavin started physical therapy in February of 2012 through early intervention for a hour weekly. In July of 2012, he started feeding therapy secondary to his gagging and slow development on his feeding. In August, we finally solved the problem of Gavin’s constant throwing up. Gavin is allergic to dairy and eliminating it has really helped his development. Up until that point, Gavin’s progression had been very slow in physical therapy. Gavin now is receiving physical therapy, occupational therapy, and speech therapy weekly. An early intervention teacher works with him twice a month for his life skills. He has discovered toys and is just starting to learn to army crawl. He can sit without support for short periods of time. He uses a stander for an hour daily. He is currently transitioning to a sippy cup and working on holding finger foods. His therapists continue to be amazed by his weekly progress.
Gavin is the love of our life and his personality will brighten up your day. He is a laid back child and loves to watch what happens around him. We don’t know what the future holds for Gavin but we are so blessed to have Gavin in our lives.
Christine, Ted and Gavin Kowalski

Trisomy 14

Trisomy 14 Awareness, Featuring Elijah, with Trisomy 14! 

Elijah was born January 23, 2010 via c-section. He was 7lbs 4 oz 19" long. His APGAR scores were normal. No one noticed anything different about him. After bringing him home he finally opened his eyes at 5 days old. I noticed he looked a little different from my older two children. He looked like he had Down Syndrome! My husband also thought this. I searched the internet and looked through all the pictures I could find... the only thing about Elijah resembling features of Down Syndrome was his eyes.I mentioned this to our pediatician but they brushed off my concerns. "I don't think so" they said. I contacted VCU/MCV Hospital and scheduled an appointment with the Genticists. It would be more then two months before we could see them.At 2 1/2 months old I noticed Elijah's feedings decreased to an ounce per feeding. He wasn't growing either. I went to the Pediatrician on a Friday and told them he was only eating an ounce per feeding for the last few days. They said "keep chart of it over the weekend and call us next week". That wasn't going to work for me.I called VCU Genetics and told the Coordinator that I would be going to their ER and requesting a Genetic Consult. That evening Elijah was admitted into the Hospital and diagnosed with Down Syndrome, either Translocation or Isochromosome, they could not be sure at the time. He had tons of testing with only minor health issues.Two years later Elijah had a bone Marrow biopsy done. After the results came back he was ok, he didn't have any serious issues. They also did a Chromosome Analysis, it indicated that he did not have a translocation but an Isochromosome, however in his first cell line he had the Mosaic form of Down Syndrome, "Partial Down Syndrome" and in his second cell line he also has Mosaic Trisomy 14.Elijah is the only known case of THESE two particular coexisting Chromosome disorders. Individuals who are "Mosaic" have two cell lines. He does NOT have true Trisomy. He's even more Unique because in both of his cell lines he has an Isochromosome. An isochromosome is a chromosome that has lost one of its arms and replaced it with an exact copy of the other arm (on the same chromosome) so a normal 21st chromosome, and the second 21st chromosome with the extra chromosome material attached, no third chromosome present. His 14 chromosome in the second cell line is the same. He only has 46 chromosomes. He doesn't have a true trisomy but it is still referred to as Trisomy. Its rare. IT HIT ME, If Elijah was ONLY born with Mosaic Trisomy 14 their would not have been any resources for me. No support, nothing. Mosaic Trisomy 14 is very rare, there are only about 28 cases documented in Medical Journals. This organization was created so that ALL families with children with ANY type of Special Need WOULD have Support, Resouces and Information. A place that doesn't only target one type of disability but ALL. Elijah is enjoying life like most kids. He's really not much different then a typical child. He is happy, stubborn, gets into everything, loves music, football and chocolate milk. He is a blessing. Each day he shows me just how special he is.