Adalee

 

   Adalee ~ Full Trisomy 13 ~ Born:  July 20, 2011

Hey everyone! I’m going to try to be brief :) I was so thankful for the stories on this website. They gave us so much hope during rough times with our daughter. I’m going to break this up into two parts, the first one is for those of you that want to know all of Adalee’s medical information and what we have been through. I’m going to warn you, we had a very rough first 9 months. I hope it helps you have some idea of what you might have to go through with a wonderful trisomy baby. The second part is about what Adalee is like and how she has impacted our family.

THE MEDICAL PART

My husband and I decided that we weren’t going have any invasive testing early in the pregnancy because we wouldn’t have aborted a baby with disabilities. We had no idea that something was wrong with Adalee. When I was 33 weeks pregnant, my midwife was concerned about Adalee’s growth. She sent me for an

ultrasound which showed Addie was not receiving the blood she needed and her fluid was getting low. I was sent to the labor and delivery floor (which I also work at as a labor nurse). I knew something was very wrong when I saw Adalee’s heart rate tracing. She would have huge decelerations with minimal contractions. I had an urgent c/section that day because Addie needed to be delivered and wouldn’t tolerate labor. She was born at a weight of 2lbs 7oz. At birth, she did great, she had 7/9 APGARs. She had extra digits on her hands that we called her “diggie friends” and a cutis aplsia (scalp lesion). She was shipped to the Cleveland Clinic within hours. My blood pressures started to climb after delivery reaching 170/110 (PIH is common for trisomy 13). I was shipped to the Cleveland Clinic the next day, and Addie was starting to struggle to breath. She was placed on CPAP but eventually needed to be intubated. She received steroids and to everyone’s amazement did fabulously off the vent a week later. She began to grow, eat, and heal. She had a PDA that closed on its own and her scalp lesion (which we were told would need surgery) healed fully on its own in a month. At 5 weeks old, we were able to take Addie home from the NICU! We were told we didn’t have much time, and they let us take her home at a very low weigh (1500 grams).

Things were going well and we were learning to take care of her at home. At 2 months of age, we had our first major scare. Addie started to choke at home after refluxing some breastmilk. She turned blue and stopped breathing. We did CPR and called 911. After 4 minutes, she coughed and slowly started to breathe again. The EMTs were just walking through the door. We were taken back to the Cleveland Clinic. A day later, she choked again and coded on and off for the next 2 hours in the PICU. She slowly recovered and went home 3 weeks later, this time with an NJ tube that bypassed her stomach so she wouldn’t reflux. This worked wonderfully until she was about 5 months old. She choked again at home, needed CPR and was life-flighted back to the Cleveland Clinic. This time, she received a surgery that wrapped her esophagus to prevent her from choking. When they did the surgery, they also found that she had a malrotated bowel and repaired it. We had a g-tube placed to feed her. She had a very hard time recovering from surgery and was unable to get off oxygen. We found out that she has bronchomalacia and would need to be on oxygen until her lungs grow stiffer.

We were back in and out of the hospital over the next few months with little colds and bugs.

At 9 months of age, we were going to the hospital for a large amount of blood in Addie’s stool. She was SOOOO fussy and we weren’t getting any sleep. On the way, Addie’s g-tube popped out in the car and we were unable to get it back in. While under anesthesia to replace the tube, Addie’s vocal cord spasmed and closed shut. She coded again in the OR for 4 minutes. What was going to be a little procedure turned into a major event. She was again on the vent. This time, doctors had little hope she would come off the vent, but, in Addie fashion, she took her time and was about to be extubated after two weeks. A little side note, the blood and fussiness was from an allergy to something in my breast milk, we never could find out what it was, but she is so much better now.

Adalee’s medical issues: Small cleft palate, small ASD that is not effecting her, on o2 from bronchomalacia, fully g-tube fed because we are too scared to give her anything by mouth, seizure that started about a year of age (seen to be more controlled on Valproic Acid), low tone

THE FUN PART!!!

Adalee just celebrated her 15 month birthday!!!! She is now a chubby 16lbs. Typing out all of Addie’s health history seems like it was in another lifetime. She has been doing so well for the past ½ year, and we have enjoyed all the time we have had getting to know our daughter. Most days, we forget that she is a “medically fragile” kiddo. We go everywhere with her; friend’s houses, dinner, trips, parks, church, and walks.

I can’t begin to describe to you how much joy Addie has brought to our lives!! We know God made her perfectly. She loves to smile, play with her toys, and laugh. She is trying so hard to roll over and is so close!! She reaches for our faces and loves to touch and explore them. Everyone says that the baby years go by so fast. With Addie, it feels just right  We get to celebrate every little thing she does and take it all in!

Knowing God has a plan for Addie’s life is what helps us get by the most. Things seem in prospective with Adalee around. She is not a burden, but a blessing. I know people look at our lives and think we are crazy. How can we deal with a child will all these issues? I have had so many people come to me and say “I don’t know how you do it”. HERE IS HOW: It’s not that God only gives you what you can handle, it’s that God equips you with the strength, patience, and prospective you need. Not every second of every day, but most days. If I am having a bum day, it’s because I’m not trusting in His plan and that it is the best. When God does call Addie home, I pray for the strength I will need to choose Christ rather than bitterness. She is a gift from the greatest gift Giver, and until that day He calls her (or me for that matter) home, we will celebrate her life!

Please e-mail us if you have any questions or want to talk. I know this journey is not what you would have hoped or planned, but just know that God did plan it.

Email- shireonfire@yahoo.com (please put trisomy in the subject). We are on facebook as well.

Much love,

Ian and Renae Shire

Some good links that have helped me:

“Welcome to Holland” LOVE THIS

http://www.youtube.com/watch?v=raEwoQDHRUg&feature=related

We joke that this Addie’s boyfriend 

http://www.youtube.com/watch?v=GZINNWrQqjo

Notice who is first  It’s not because her name starts with an “A”, it’s because she rocks. Serious note- LOVE the lyrics

http://www.youtube.com/watch?v=PEIUn02MHrc&feature=related

My “having a bad day” songs:

http://www.youtube.com/watch?v=HPhEJf5V5YQ

http://www.youtube.com/watch?v=1CSVqHcdhXQ

We hope these stories of children with trisomy will inspire you. From cleft lips to contagious smiles, group of families are here to offer you support as you begin your trisomy journey. It seems we only hear of the problems that come with a child having Trisomy . There is so much more to these sweet lives. Each day the living children bring joy to their families as they accomplish simple tasks or reach a milestone, the angels remind us that life is short but a blessing all the same and they will forever be engraved in our hearts. Be sure to check back for our next story or update and until then....Embrace life one moment at a time ~  Vanessa  

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Giuliana Lynn

Giuliana

Mosaic Trisomy 18

Born:  August 2010

 

This is the story of Giuliana Lynn.  She was born in August of 2010 weighing 4lbs. and 2.5 oz.  My pregnancy with Giuliana was relatively normal. It was another high risk pregnancy, not specifically because of G but previous factors related to my other children. Once again this meant making multiple trips to the doctor. I loved it though because abounding ultrasounds revealed another amazing baby who would complete our family! The only indicator that something could be off was that Giuliana was slightly gestationally behind in size.  The doctors didn’t feel that it was of concern yet couldn't rule out issues. Either way, nothing could have changed our course of action.  We do not believe in genetic screening and therefore would not have consented to the testing. Shortly after she arrived, the physicalities of genetic anomaly were apparent. The doctors noted her birth weight was low, sternum was short, fingers were slightly overlapping, and she had slight rocker bottom feet. She was also in significant respiratory distress. It appeared that the NICU fully intended to let her struggle it out on her own and therefore we requested someone help her. At that point, Giuliana was intubated. Blood was then drawn and taken to the lab in order to finalize a diagnosis. There were high suspicions that Giuliana had Trisomy 18 (Edwards Syndrome), a genetic condition that occurs in approximately 1/6000 live births. While waiting on the quick results, Giuliana was given a full exam. It was discovered that she also had multiple cardiac defects.  Giuliana was born with a large VSD, ASD, and a PDA and 90% of babies born with trisomy 18 usually have some type of cardiac defect. It now seemed obvious that Giuliana's anomalies were not coincidental, but most definitely related to this syndrome to which we were unfamiliar. 

After 24 hours, the blood work confirmed that Giuliana was positive for full trisomy 18, meaning every cell in her body contained an extra copy of the 18th chromosome. Upon the formal diagnosis, Giuliana was quickly recommended to be removed from breathing assistance, even after we were promised “time” with our daughter.  We asked the hospital staff for one more day with Giuliana. They reluctantly agreed and we were also told to start preparing funeral arrangements. Her breathing tube would be pulled immediately after her picture session and Baptism the next day.

There would be no alternatives, no reintubation. The order had been staff made on her behalf, and we knew no better at that time that we had choices to dispute.

After her breathing tube was pulled, there were two options. Live or die, and both depended on G. Evidence shows that if babies with trisomy 18 receive only comfort care while in the NICU then around 1/3 will die before hospital discharge. Intubation well surpasses the simple intervention, like oxygen, that is still often considered “invasive” for a child with trisomy 18. Not fully understanding the resistive mindset or knowing that statistically a baby like Giuliana who required breathing help and had a cardiac defect, should not have made it home from the hospital, we held her and waited....

Fortunately, Giuliana was able to breathe on her own and our hospital gave her a gradual respiratory step down to room air. Once G proved she could handle breathing, we were finally given the newborn hearing and vision assessment, as well as the infant car seat test. We were going to be sent home without any "emergency" equipment and my husband and I were not at all comfortable with that scenario. We requested(on more than one occasion) to discharge with home use oxygen and a pulse oximeter. We eventually received our request inadvertently realizing we had actually won a huge victory.  Leaving the hospital with this ‘life saving’ equipment is also against the typical discharge protocol for trisomy 18. 

“Take your baby home and love her” is the common catch phrase.  And of course, that was easy.  The difficulty was leaving the hospital on day ten and being welcomed at home with a Hospice nurse and a Do Not Resuscitate Order. Sadly this is also standard routine for trisomy 18 neonates because their condition is viewed by most professionals as futile. Signing the DNR order is an unfortunate choice that parents, including ourselves, are often unknowingly steered to walk. Once parents realize exactly what accepting Hospice care means, they often choose to discharge from the plan and lift the DNR. Still, doctors have consciously reinstated DNR orders even against parental consent, and it happens all too frequently. 

For us, Giuliana was always a survivor.  Why not? Someone's child had to be the 10% that lived and we knew that was G. We knew she was temporarily strong, yet that she would not live long without her heart being repaired. We were fully prepared to do whatever Giuliana needed, without question. At that point we didn’t realize we were battling a diagnosis with such immense stigma that we would not only be fighting Giuliana’s health timeline, but the medical community as well. We requested that she be recommended for a full cardiac repair at our local hospital and we were blatantly denied. What we were offered, was a variety of lies as to why our daughter could not have her heart repaired.  This denial is habitual for trisomy 18 children. In fact, rarely will any early surgical repair be suggested. Cardiac demise is part of the reason that only a small 10% of children will live to see their first birthday milestone. New studies, however, show that families who persist on and receive  early surgical intervention could increase the first year survival rate up to 18-25%. We were not going to let a refusal stop us, and we looked further. We didn’t know a cardiac repair had to be 'case specific' because of trisomy 18 and our instinctual approach to her care seemed to be what was necessary in order to find her surgeon.  Our quest to naturally interview surgeons and facilities continued daily without cessation. We would have done this for any of our children and we did not stop until we found someone we believed was qualified enough for OUR own standards. Our surgeon accepted Giuliana as a baby with a cardiac need, and did not view her as a diagnosis. At only 2.5 months old, we drove our family 23 hours to meet the cardio thoracic surgeon who would repair Giuliana's heart. Before the surgery, the majority of the team (surgical & cardiology) voted to call her surgery off.  However, our surgeon knew that it was our belief and right to give our daughter the best possible chance to live a rich, full life with her family. He defended our requisition as 'acceptable and educated' and without hesitation, repaired Giuliana. Her heart surgery was incredibly easy and she recovered quickly. The cardiac repair was by far the easiest surgery, mentally, we have ever given Giuliana. Without fixing her heart, she would NOT be with us today.

Once we were home, Giuliana continued to develop quickly and just slighly behind ‘normal’ milestone markers. One of Giuliana’s specialists was compelled to look deeper into her diagnosis because trisomy 18 is classically characterized by severe developmental delays. In many cases, having normal cells will increase the advantage of a child to develop on a more regular developmental timeline. Revisiting the initial blood work showed her original diagnosis was incorrect. G did not have full trisomy 18 but the lesser and statistically more rarely occurring form of the diagnosis. Her new formal diagnosis was trisomy 18 mosaic.  Meaning, Giuliana had a portion of "normal" unaffected cells in her body, and also those cells still fully "affected" by the extra 18th chromosome. No further blood or skin cell testing was ever done because the desire to 'reconfirm' on our part, was insignificant. The words "trisomy baby" or "mosaic trisomy" are merely labels to us. We have always treated Giuliana as a person.  A little girl  who was fully deserving of care, just like her siblings.

Giuliana’s path was interrupted around the 10 month mark as she began to suffer from food and laxative intolerances. The next full year would require multiple surgeries, that at certain points, were life threatening. None of these surgeries had anything to do directly with trisomy 18. However,  assumptions always came full circle back to the stigma that G was ill because of her trisomy diagnosis. It was(and will likely always be) a continuous game. As parents, intuition and attention to detail on her behalf, are what helped save Giuliana’s life.  At the threshold, we personally switched her diet to entirely gluten-free and rid her sensitive system of the harsh chemical laxatives that were suppressing it.  G began to flourish again, but not without sustaining some lasting neurological and physical setbacks.  She has continued to regain lost skills from her brush with chemical toxicity and we love that each day she becomes all around more proficient.

Giuliana is now 2.5 years old and her special gift to the world is her life. We are so pleased she can use her life to inspire others. This gift of hope does not have to disappear after diagnosis is made, nor is it shameful to continue to believe in possibility. G is living proof to this statement.

There has been many changes along the way, but for us initially, all we wanted was a living face to see. We were told that no children can survive with trisomy 18, and we now know this is 100% false! WE now deliver the honor ourselves!  Our own beautiful Giuliana is gleaming, and we share her as the irrefutable face of life that the ‘lethal’ diagnosis so flagrantly can not deny!

We hope these stories of children with trisomy will inspire you. From cleft lips to contagious smiles, group of families are here to offer you support as you begin your trisomy journey. It seems we only hear of the problems that come with a child having Trisomy . There is so much more to these sweet lives. Each day the living children bring joy to their families as they accomplish simple tasks or reach a milestone, the angels remind us that life is short but a blessing all the same and they will forever be engraved in our hearts. Be sure to check back for our next story or update and until then....Embrace life one moment at a time ~  Vanessa
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