Trisomy 13

Trisomy 13 Awareness Day, featuring Lillian!

Lillian Jennifer Monaghan , she was born on February 4, 2007. She is an amazing little miracle just like all of our trisomy kids are! She lives at home with her mommy, daddy and little 'big' brother, Landon ( he is 3 but Lillian has learned so much from him and he loves helping his sister!)
She has the personality that once you meet her you love her. She has a funny game that she plays with everyone. She will stare into your eyes and ask your name... Once done it is trapped forever I don't think she has forgotten anyone that she has met - but she will ask you what's your name? Then laughs! when is a parrot and is statying to have some on topics spontaneous speech. She is very opinionated and let's you know what she thinks. She is walking with some assistance (at school she uses her walker and does fine holding your hand to keep her balance too!) she can walk independently with some short distances. She is a crack up and makes me smile everyday.

She loves music, horseback riding( she rides twice a week), being outside, people and all attention on her ( well who doesn't really!). She enjoys going to school.

We love meeting new people and Lillian has introduced us to a wonderful new world and family in SOFT. The love and support we have gotten has been fabulous and overwhelming.

Lillian has been a healthy girl overall. She is having surgery on March 12 for a gtube and hernia repair.

Have a blessed day!
We are always available to talk to find me on Facebook Michelle Zidzik Monaghan
Email me myshel22@aol.com

Trisomy Awareness Day 12

Trisomy Awareness Day 12, featuring Landon! 

Landon is perfect. No one can convince me otherwise. Landon was born on January 18, 2006 and immediately the hospital staff knew something was not right with Landon. After a week we found out the news that Landon had a rare chromosome disorder called Unbalanced Translocation 12&18, duplication 12p. We got thrown into Genetics 101 real fast. Learning Landon had this rare chromosome disorder was hard for us to understand and the doctors had no real information to offer us. After 3 weeks in the NICU Landon was released and we were to live life like normal. Our new normal.
Landon went through the county Birth-3 program receiving physical, occupational, and speech therapy. There are a lot of things Landon cannot do like sitting up, walking, talking, daily care, etc..... We try not to focus on what Landon cannot do, rather, we try to focus on what he CAN do. Landon can light up a room with his smiles and giggles. Landon tries to communicate with sounds and giggles. Everyone who meets Landon falls instantly in love with him and he forever makes a mark in their heart.
Landon is now 7 years old and a beautiful growing boy, who has a heart of gold. Landon has 2 older brothers who are 9 and 11 whom he loves so much. Landon is all boy too! He loves to swing, 4wheel, swim, and snuggle. Landon has taught us so much about life and unconditional love. I am so proud to be Landon's Mom and I am so proud of my older boys who are going to be the most sensitive, loving men when they grow up.

Trisomy 11

Trisomy Awareness Day 11, featuring Asrun! 

Asrún Vala 

When ´Asrún Vala was born we did not know that anything was wrong with her. She was born with six fingers on right hand and iris coloboma in the right eye. When she was four months old we went to see an ophthalmologists, he told us that she was blind on the right eye. It wasn't until she was eight months old that we found out that she has Partial t13 and is missing part of chromosome 11th. Here in Iceland no one else is with this same "fault" in this chromosomes and no knowledge of this. We have been very lucky with ´Asrún Vala, she has been healthy overall. She is in ordinary school, in 4th grade (9 years old). She has full support in everything she do in school, goes to swimming and gymnastics with her classmates. Her support in school is development trainer. She goes to physiotherapy, occupational therapy and speech therapy in school. We are very luck with the school, they will do anything for her.

Kayli is in heart failure

I have been waiting to blog about this, because there are so many unanswered questions, but I am feeling a little better about sharing this with you, in an uplifting way now. :D 

Months ago, Kayli had broken her leg (tibia and fibulia).  Her heart rate was slightly elevated because (we thought) she did not like the casts.  Any time we put casts on her legs (for club foot corrections), she has detested it, and tried (many times succeeded) kicking the casts off.  It was easy to belittle her higher heart rates, thinking they were temporary grudges against the castings.  

In the third week of January, Kayli started the Ketogenic diet.  The diet consists of a lower calorie intake, low sugar, and high fats.  It is imperative that Kayli get high amounts of water while on the Keto diet, because a side effect is dehydration and/or kidney stones/damage/failure.  Kayli was not given the correct amounts of water when originally put on the diet, and she was slowly dehydrating without our knowledge. 

Then in February, Kayli had another bilateral clubbed foot surgery.  During the prep for the surgery, she was to hold all food at midnight, then all fluids early in the morning.  Looking back, this was a very dangerous thing to do to Kayli, seeing as how she was suppose to be on water, to ward of dehydration.  After the surgery, Kayli had complications.  She was severely dehydrated, but we did not know this at the time.  

After she came home the day of surgery, her Ketone counts were very high.  I was told this was ok, but looking back I now understand that what was happening was NOT ok.  Kayli was starving, and her body was taking Ketones (fat) from her own body because she was not being provided any through diet while fasting for surgery.  With the dehydration and starving, her heart raced to keep up with the stress of lack of nutrients her body was enduring.  

It is important to know the reason a person dies from dehydration.  When dehydrated, you loose electrolytes.  An important electrolyte, is Potassium.  If you have too much, or too little potassium in your system, your heart will stop.  Therefore, the reason you die from dehydration, is because your body does not have enough of the electrolyte, Potassium, which stops your heart from functioning/pushing blood through your body.  If you are a heart patient, your potassium and fluid intake are monitored closely for this reason. When Kayli was dehydrated before, during, and after surgery....she did not have enough Potassium in her system.  Her heart was stressed, and she was starving. 

Kayli presented with high heart rates after surgery.  We thought it was because the casting techs in the OR put her casts very high up her thigh.  The right cast was so high, it was over a portion of her genitalia area.  No matter the position she was in, it caused pressure on her pelvic, muscles, and bones.  Within 24 hours, we had Kayli in the ER so another tech could cut back the cast.  Kayli's heart rate continued to be high, but did come down slightly, so we assumed she was (once again) upset with the casts on her legs. 

During the following weeks, Kayli's heart rate remained high.  The Dietitian for the Ketogenic diet found her mistake in formula calculation and water intake.  Kayli's diet and fluid intake increased.  Her heart rate declined somewhat, but still remained elevated. The Cardiologist was called, and the Dr. placed Kayli on a heart halter to monitor her heart rate, and check for any signs of heart failure.  The halter confirmed her heart was in distress.  The dr. then ordered an echo, aka ultrasound, of the heart.  The Echo showed slight decrease in Kayli's heart function.  Kayli is confirmed in heart failure.  

Heart failure means many different things, depending on the person, age, and situation.  To Kayli, heart failure means her heart is not functioning, or doing it's work as well as it should be.  She is not pumping the blood through her body as easily as she should be able to.  She now needs support with her heart function.  Kayli needs to be placed on heart medications to support a healthier heart function. 

While it might seem to be a simple solution to many, it is a difficult task to come up with an easy medication plan for Kayli.  There are many interconnecting factors.  For instance, 

1. The Robinul (Glycopyrolate) is a medication Kayli is on to help control secretions (produced with the humidification system to keep her trachea moist...a trachea does not have filters like our nose, which we would normally breath through if we don't have a trach). The Robinul can cause/add to heart failure.  Although I have refused to increase the dosage of Robinul, the medication itself does not help support healthy heart function...but Kayli needs the Robinul to maintain moisture in her trachea. 

2.  The Ketogenic diet requires much fluid intake, to maintain electrolytes in order to ward of kidney dysfunctions   Potassium, is an electrolyte in water that (if given in proper dosages) maintains healthy heart function.  A heart med that Kayli will need, will be Potassium.... the amount of potassium will be a critical factor in that it cannot be too high, nor too low because either miscalculation can cause a heart to stop.  

3.  A heart can be in failure (or distress) if there is too much fluid on it.  The Ketogenic diet requires high amounts of water to keep out of kidney distress. If Kayli has too much fluid on her lungs and heart, this will cause more stress on her heart, and increase the heart failure.  Lasix (a diuretic) will need to be given, to take fluids off Kayli's heart.  The diuretic will wash out all the extra fluid needed to keep Kayli hydrated while on the Ketogenic diet.  

4.  The Ketogenic diet is working beautifully in controlling Kayli's seizures, so simply taking her off the diet would not benefit her brain function. She has been on many seizure medications, but the side affects were alarming, and poorly altering her quality of life, while they did nothing to stop her seizure activity. The hope is to get Kayli off ALL seizure medications, and be seizure free!  This is now a possibility, with the Ketogenic diet!  Seizures can be deadly, so we are with hope in prolonging Kayli's life and quality of life, with the Ketogenic diet! 

Kayli will need to be monitored closely, receiving many blood draws to assure her medication levels are within safe ranges.  Kayli is a very hard stick (hard to get blood from).  Not only does she inherit that from her mother (me), but it is also a common characteristic of Trisomy 18 (to have very thin veins).  Kayli does have a chest port (Bard, mediport), but it has not drawn back (blood) since a month after it was placed (3 years ago).  Kayli has an appt. with her general pediatric surgeon next week, to discuss taking out and replacing her chest port.  The Cardiologist will give approval for this surgery, even while she is in heart failure, but he has stated Kayli will not likely be able to withstand more major, invasive surgeries, like spinal growing rods, hip surgery, etc. now that she is in heart failure.  

The Cardiologist has stated that once in heart failure, you do not come out of it....you either maintain the function as it is, or you get worse.  But then, this is Kayli we are talking about!  Technically, she has been in heart failure since she was born (her heart has never functioned "normally")! :D  Kayli has ALWAYS done things her own way, and we follow along, pretending we are able to stay one step ahead of her! lol  

With all that being said....Kayli got her casts off, and AFO's on.  Since the day the casts came off...her heart rate has decreased and is almost back to her baseline (normal)!  Her Daddy said from the beginning...she just doesn't like the casts! 

I wouldn't be surprised, nor would I bet against the fact that if given another echo...she would be functioning her little heart as normally as she used to (out of heart failure)! ;-)   After all...this is our willful, stubborn, yet lovable Kayli we are talking about! <3 

God's Blessings unto you! 

Trisomy 10

Trisomy 10 Awareness Day, featuring Kira, with Trisomy 10P! 

Kira was diagnosed with Trisomy 10p two weeks after she was born. She had some breathing difficulties at first but the real issue was her feeding, she was tiny 5lbs 9oz and was born full term. She got transferred to a children's hospital and that's where she got a G-tube and a Nissen Fundoplication because she refluxed almost everything she took in. She barely passed her hearing test and her eyes where fine at the time. We were able to go home after 2 months and had therapies lined up for her at home. Her development was slow and didn't start sitting until 15 months old and hated being on her tummy because of the G-tube.

At a 1 1/2 years old she had a Diaphragmatic Hernia Repair and a Re-do Fundoplication. She also had strabismus surgery to fix crossed eyes and began wearing glasses for farsightedness. She also was diagnosed with mild-moderate hearing loss and began wearing hearing aids. She had her first possible seizure when she was 2 years old but till now has not been diagnosed with a seizure disorder but she is borderline. She had a diaphragmatic plication also when she was 2 and when she was 3 she had a really bad bowel obstruction that resulted in another perforation of the diaphragm and the colon went up the lungs. She had to have a temporary colostomy for her colon to heal and a year after the colostomy was taken down.

During the surgery she had a stroke and that resulted the left of her body to be weaker than her right. It is very mild now but her hip did get partially out of the socket because of the weakness in her muscle that holds it together. She is scheduled to have surgery this March and will be on a body cast for 6 weeks. She has had numerous hospital stays for pneumonia, infections and possible seizures but all of that does not take her smile away. She is an extremely happy girl even with her being nonverbal she definitely communicates. She can walk assisted and scoots on her bottom to get around. We have been working on oral feeds for quit a long time but she is so overly oral aversive that she does not cooperate. She has a younger sister that she loves and yes she will fight with her if she takes away her book. She loves books!!

Trisomy 9

Trisomy Awareness Day 9, featuring Caden, with Trisomy 9p!

February 20, 2009 was suppose to be the happiest days of our lives we were welcoming our first child into the world. At 1:20 pm I gave birth to a 6 pound 14 ounce baby boy named Caden Jack whom appeared to be healthy. We struggled the first two days getting him to drink from a bottle. His pediatrician came into the room the day we were to leave the hospital and said she noticed several things about him that she wanted to talk about. We had no idea anything was wrong with our precious baby. She told us the reason he was having trouble drinking was because he had what appeared to be a cleft palate and a split uvula. If hearing that news was not hard enough she told us she noticed his facial features looked different to her and we need to contact a genetic doctor. My heart hit the floor and I broke into tears. I blamed myself everyday for his problems since I didn't know what had caused them.
When Caden was about two weeks old we went and seen a genetic doctor and counselor. They confirmed what the pediatrician had said in the hospital and they recommended genetic testing. Waiting for those results seemed like months. After a few weeks we went back for the results and the doctor told us he had what was called Trisomy 9p. We had never heard of such a thing. The questions kept coming what does this mean, will he live, will he be “normal”, what is Trisomy 9p? The doctor told us that at that time there was less than a hundred cases reported and they had never seen a case before. They promised they would do their best to help us understand as much as they could.
The one thing that was told to us was that most cases the children are extremely delayed with milestones if they are even reached. Caden did not sit up till he was about 10 months, never really crawled and walked around 18 months. At four years old he still does not talk, but he attempts to say several words. He had his cleft palate repaired and is trying so hard to vocalize more but until that happens he communicates through sign language. We are very proud to say that he has around 125 signs that he uses. He is on his second year of preschool which he attends two days a week. He loves the interaction with the other children. He is a little social butterfly!
We used to hate the extra chromosome that has affected our beautiful baby boy. Even though it causes him a lot of problems we wouldn't change who it has made him to be. No matter where he is he is always complimented on his infectious smile and how happy he is. He can brighten anyone’s day with just a little look and that smile! The good times with him outweigh all the problems he faces. We have made a whole new family that we would have never known if it wasn't for that extra chromosome. Its a family like no other.
Everyday might have a new heartache or have a new challenge but the joy he brings is so worth everything that is thrown at us. Caden is the biggest blessing that God could have given us extra chromosome and all!

Dr. Kayli for Trisomy Awareness!