• Diploid Triploid Mosaic Syndrome Site!!!!

    I have Diploid Triploid Mosaic Syndrome...or Mosaic Triploidy. I live with my family, and they take care of me. My Mommy has started this website so that others with this same disorder can find us and we can share our stories and answer questions, and be an encouragement to you. I'm a big boy, 24 years old, and the doctors said I wouldn't live a month...but here I am, 24 years later...alive and well!! I am not your hope...but I am the evidence of your hope in all that God has for you. If you have a family member who has been diagnosed with Diploid Triploid Mosaic Syndrome and would like to contact us, please email our family at: juliaruiz@juno.com.

Mosaic_Triploidy Parent Support Group

http://health.groups.yahoo.com/group/Mosaic_Triploidy/ This group is for families of children faced with the rare genetic disorder, Diploid Triploid Mosaic Syndrome, or Mosaic Triploidy. If your child has just received this diagnosis, you probably have have a lot of questions. We are here to walk with you, and to talk with you, to encourage you along the way, and to share our experiences with you to help you as best we can. Take care, and be encouraged. You are not alone.
Click here to join Mosaic_Triploidy
Click to join Mosaic_Triploidy

Links to other Mosaic Triploidy family photo sites and weblogs:

http://www.carolinerae.blogspot.com/ http://share.shutterfly.com/action/welcome?sid=8AZOHLVi1bNmgr¬ag=1 http://www.slide.com/r/YFPRgVHp1j81JeytwG-_SEkNice6WnWG?referrer=emfcn

UNIQUE

UNIQUE is a support network for those who have been diagnosed with a rare chromosome disorder: http://www.rarechromo.org/html/home.asp

NORD - National Organization for Rare Disorders

NORD is a website database for rare disorders that can be publically accessed for information. The link given here is the website address for Triploidy Syndrome: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Triploid%20Syndrome.

Rare Disease Support Community

Rare Disease Support Community is a free NORD Support Community for families and individuals who deal with Rare Disorders: http://nord.clinicahealth.com/

David's Weblog

Sunday, 28 September 2008

  • Changing the world, one lullaby at a time...

    My son David has had a long-term disability for 24 years now, and sometimes, he just gets really frustrated at having to just deal with the things he has to go through all the time, and he just gets mad.  Last night, and this morning, were one of those times...the boy just got mad.  Mad at having to suffer every day.  Mad at having to watch others every day get to do stuff he cannot do...have freedoms he cannot have.  Sometimes, he just gets so mad, he can't do anything but cry in his frustration.  It's times like that, that he needs God, with skin on.

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    Last night, I cuddled my boy for a long time, with his head on my lap, and sang to him...this song...for nearly 2 hours.  Years ago, God gave us a David Clydesdale version of a song from a Christmas musical, From Heaven's Throne.  The song is 'Trust His Heart'.  Beginning in 1992, we listened to that song every day, several times a day, for literally years.  David would get sick, have surgeries and seizures, go into comas, and come out of them, all to the words and music of this song.  Last night, I pulled our song out of my bag once again, and sang him to sleep.  It took a while, but I finally heard the heavy breathing of his slumber, and drifted off myself.  I wanted to share with you today, the words of David's special lullaby:

    Go change the world.

    Go change the world.

    Your light will fill the darkness.

    Your life will lead the way.

    Go change the world.

    Go change the world.

    Their only hope is in a Savior….

    Go change the world!

    God is too wise to be mistaken.

    God is too good to be unkind.

    But when you don’t understand,

    When you can’t see His Plan,

    When you can’t trace His Hand…..

    Trust His Heart.

    He alone is faithful and true.

    He alone knows what is best for you……

    So, when you don’t understand,

    When you can’t see His Plan,

    When you can’t trace His Hand……….

    Trust His Heart.

    So, God gave us that song years ago, and David has been through many things over a long period of time, and this song keeps coming back, as a reminder of comfort, and trust, and faith...in a God who cares, even when we don't understand the whys and wherefores of things, and when we hurt.

    I hope the words to the song bring you some comfort, if you find yourself going through something tough today.

    Much love to you, and yours........

Thursday, 15 May 2008

  • Here I am, World!

    More than 24 years have passed since these photos were taken.  Technology seemed awesomely advanced back then...nearly a quarter of a century ago...and, by previous standards, I'm sure it was.

    ScannedImage005_005_005

    Here, though, is a little guy, who obviously has something going on...and it took them 8 years to find out what.

    Early on, we heard a lot of terms, like, Hydrocephalus, and Polycystic Kidney Disease, and Trisomy 13, and Toxoplasmosis, developed intrauterinally, all of them possible diagnoses for this tiny baby with the strange anomalies.  Doctors from all over the hospital would come in to the Newborn Nursery, and ask where the baby was that had 'thus or so", and the nurse would immediately hush them, indicating that Mom was sitting right there.  Then there was whispering, and you could hear all kinds of medical jargon being thrown around, and you knew, they were talking about your baby.

    Toxoplasmosis was the diagnosis that seemed to be 'the' diagnosis of the day.   Two doctors, after having examined the test results, concluded independently that most definitely, this is what David had.  They told us that David was completely congenitally blind, and that he would not survive 'neonate'.  I asked, "Neonate?  What does that mean?"  "...a month," the doctor replied.  David was 3 1/2 weeks old.

    My heart sunk.  "Do you mean to tell me that I have less than a week left with my son?"  It was obvious that the doctor did not want to answer.  After a silence that is often called deafening, with a cracked voice, the doctor uttered a broken, "Yes, ma'am.  But, if he survives, he will live a suffering a debilitating life." 

    I wanted to scream.  I had grown to love David so much, and the realization that I only had days left with him all but broke my heart.  I didn't want him to die.  But, the thought of him suffering a lift of pain, just because I didn't want to go through the agony of my child dying, seemed very selfish.  In that moment, it seemed less selfish to let him go, but how I did not want him to die!

    David was such a tiny boy.  He had only weighed 3 pounds when he was born, full term.  ScannedImage006_006_006As you can see in this photo, his arms were no bigger around than my fingers, and his legs no bigger than my thumb.  His head fit into the palm of my hand.  His head, the size of a 32 week baby, was disproportionately large to his body, only the size of a 28 week baby.

    He never cried.  In fact, he never moved or made a sound.  He was too weak to swallow.  It took 36 hours for them to get his little body to tolerate 1cc. of water.

    His hands were folded down onto his wrists, and his feet turned in at a 90° angle in the middle.  His toes and fingers were webbed, his ears low set, and his face seemed to almost stop before it got to his chin.

    Every day, though, when I would go in to visit David, I would read I Samuel, chapter 19 to him, about another little boy named David, who had a great big giant to conquer.  "With God's help," I would tell my boy, "he did!  And, so will you, David!  God is going to help you...and me...and together, we're going to conquer this nasty old giant!"

    ScannedImage007_007_007

    One time, when I was sitting like this, talking to David, and singing to him, I felt eyes peering down upon me on the back of my neck.  I looked up to see 7 nurses gathered around, listening to my stories and my songs.  "Can I help you?...is everything...okay???" I asked them.  They started asking me questions.  It was obvious that they were, in a round about way, trying to find something out, without coming right out and asking. 

    "What have the doctors told you? 

    Have the doctors said anything to you about David? 

    What do you know about your son?" 

    Those kinds of questions.

    Finally, one of the nurses just blurted out:  "Oohh, just go ahead and ask her!"

    "Ask me what?"

    "You don't think that this baby is okay, do you?  Like, you don't think that you are going to take this baby home in a few days, and raise him, and that he's going to be like your other children, do you?  You do understand that this baby is different!...that this baby is NOT going to grow up like other children!  This is NOT a normal baby....do you understand that????"

    "Welllll....," I pondered, "I don't know what I think.  I don't know if this baby is going to grow up and live longer than I do, or if he is going to live another day...or even another hour...or even take another breath.  But, I do know that he's mine, and I love him....and however long he lives, whether it's one more minute, or one more hour, or another day, or for the rest of my life...I'm gonna love him."

    ScannedImage003_003_003 The nurses breathed a sigh of relief.  "You just seemed so at peace....TOO at peace!...like, you were in denial!  And we were worried about you, that you just didn't 'get' it!"

    I smiled.  "I 'get' it.  I don't know why I have peace...I'm just not worried.  There's lots of people praying for me, I guess.  But, I'm okay.  Okay?"  They smiled.  "Okay.."

    David had a lot of 'nurse mommies'.  Every shift, there were at least 2 nurses vying for his chart.  Those nurses taught me everything:  How to hold him.  How to bathe him.  How to wash his hair, change his diaper.  Very often, I was too scared to hold him or to try whatever it was they wanted me to do, and they would have to say, "He's YOUR baby....HERE!" and plop him into my hands.  Imagine...being scared of this little thing...but I was. 

    ScannedImage002_002_002

    In these last 2 pictures, he's 8 days old, wearing Smurf Doll Clothes.  He's wearing 3 t-shirts under the Smurf shirt, just to keep his body temperature up.  BTW...Cabbage Patch doll clothes were waaayyy TOO BIG for him!  This is a little Smurf Tennis Outfit.  He had a Smurf Jogging Outfit too.  I bought his little blue booties at Toys-R-Us.  They fit a 12" doll.

    Three weeks later, the doctors told us David had Toxoplasmosis, and that he had contracted it intrauterinally because I had been around cats, or had eaten bad meat.  Well, I rememered one time, when I was about 3 months pregnant, Rafy and I had gone out to a restaurant to eat, and I had ordered a ground steak, and it was bad.  I ate half of it before I said anything.  On this day, in front of that doctor, I was condemning myself for eating that meat.  But, perhaps it had happened when I pet the neighbor's cat when I was 6 months pregnant.  On that day I cursed my love of cats, and the things I had done that had done this to my child.  I wanted to crawl into a hole and die.  I thought, "Let ME die...not my baby!!"

    My head swirled with condemnation.  "You couldn't have known," the doctor said.  Maybe not, but I did this to him...and I should have to be the one to pay for the mistake...not this baby.

    Rafy called a friend of ours, Jim, who happened to be a pastor, and we went to his office to talk and pray.  The pastor listened with compassion and tenderness.  I told him what the doctor had said, and poured out accusations of self-condemnation.  The pastor did not reproach; he just listened...kept asking probing questions, and let me talk.

    I was absolutely filled with agony.  "I just don't know how to pray!!  I don't want my baby to die!  But I don't want him to live a life of pain either!!  I just cannot reconcile how to pray!!!!"

    Jim's next words seemed to resonate the very heart of God.  "You don't have to,  Julie.  God already has.  David's life is in HIS hands....it always has been.  God could have stopped that disease from harming him, but He didn't do it, for a reason, so that He could be glorified."  Then he read to us out of John, chapter 9, about the man born blind, so that God could be glorified. 

    The truth of the words presented to us that day have never left me.  God did not make David this way in spite of His Love for him, but because of His Love for him...and for us.  David's life is held in the very heart of God, and God alone will decide when He will require it back.

    The Scriptures say that we will know the truth, and that the truth will set us free.  That is so very very true.  I was set free.  Even if I had inadvertantly caused this to happen to David, God had let it happen, for His ultimate glory.

    Later that evening, I arrived back to the hospital, and found a strange doctor, one I hadn't seen before, standing at David's bedside.  He introduced himself, saying that he was the head of the Infectious Disease Team.  "Your baby does not have Toxoplasmosis.  Those doctors read the test results wrong."  I was stunned.  "He's not near bad enough to have Toxoplasmois." 

    He went on to explain how the test results should have been read, and why the other two doctors had read them incorrectly, and come up with a wrong diagnosis.  "Sooo, David doesn't have toxoplasmosis?  I didn't do this to him?!"  My heart was racing.

    The doctor looked at me squarely.  "Even if he were to have contracted Toxoplasmosis, you wouldn't have done this to him.  It would have been a protozoan that did this to him, not you."

    "They said he's completely congenitally blind.  Is he blind?"

    "That, I don't know.  You'll need to get an eye doctor in here for that.  But he doesn't have toxoplasmosis."  He turned and left, without even a goodbye.

    I stood there by David's bed, looking at this almost catatonic baby, unmoving, and unresponsive.  I looked up to see one of David's nurse mommies across the room, watching the encounter between me and the doctor who had just left.  Normally a stern woman, the look on her face this night was one of choking back tears.

    "What do I do now?" I asked her.  I had just come to terms with him dying in the next few days, and gone through enormous agony over what I thought I had done to him, and none of it was true.  I stood there, numb.

    "You go home, and you get some sleep."  I started crying, and felt arms around me as I buried my head in someone's shoulder, and wept.  "You go call your husband, and tell him what the doctor said, and you go home."

    And I did.  But not before I called my mom and told her.  We had more questions than answers, but there was nothing to do but to take the next step.  You walk across the room, you get a drink, you fix dinner, and you go to sleep.  And you wake up the next day, and do it all over again.

    And all the while, your baby lay sleeping, in an isolette, and you know God is watching over him.  You are holding your baby with open palms, not knowing if he will breathe another minute, or another day...but you love him.

    ScannedImage017_017_017

    If you have a triploidy mosaic baby, or have recently found out that you are about to have a baby with this disorder, please join our Mosaic_Triploidy support group on Yahoo.

Thursday, 27 March 2008

  • New Yahoo Mosaic Triploidy Group!

    Hello Mosaic Moms and Dads...and their families and friends!

    We, the Mosaic Community, have started a Yahoo Group called Mosaic_Triploidy!  The Group is available for all Mosaic Families to join!  Though the group is hours old, Mosaic Moms from around the globe have already begun sharing stories and photos, and developing a warm community.  

    The aloneness for Mosaic Triploidy Families' isolation transcends continents and cultures.  I'm so excited that Mosaic Families, who have felt alone for so long, are finally getting some long-overdue community encouragement and support, from around the globe!

    Here is our opening description: 

     
    "This group is for families of children faced with the rare genetic disorder, Diploid Triploid Mosaic Syndrome, or Mosaic Triploidy. If your child has just received this diagnosis, you probably have have a lot of questions. We are here to walk with you, and to talk with you, to encourage you along the way, and to share our experiences with you to help you as best we can. Take care, and be encouraged. You are not alone."
     
    Here is the Newborn Picture of the oldest living Mosaic Triploidy that we are aware of...our son, David.  Here he is, 8 days old, at a whopping 3 pounds, 4 ounces...down an ounce from birth.  His doctors did not think he would survive to leave the hospital alive....but, he is now 24 years old, and is still blessing our lives!

    ScannedImage001_001_001

    God Bless David...and all his other Mosaic Triploid friends!

DiploidTriploidMosaic

  • Visit DiploidTriploidMosaic's Xanga Site
    • Name: David
    • Member Since: 2/25/2008

About Me

  • In many ways, I'm just like you. But, in many ways, I am very different. I'm 24 years old, but, I'm like a toddler. I love playing with blocks, shredding paper, and watching the Weather Channel...especially the Local on the Eights! I enjoy going to Adult Day Care every day, and just getting to go 'out there'! I really like going outside and going to visit places outside my house. I can climb into my wheelchair all by myself, and can feed myself, and work a tv remote better than my Mommy. Even though I've been through a lot in my short life, I know God loves me, and I am a happy and contented boy and love my family very, very much! They love me too!! I have a new attendant who helps me every day....and she's great! She helps my Mommy and Daddy with my care, and she is quickly becoming a part of our family! I have 2 brothers and 2 sisters, and a little sister who had the same thing I do, but who is in heaven. Thank you, God, for my family....and for all your love to me!

Pulse

DiploidTriploidMosaic has no pulse!...

Chatboard (4)

  • DiploidTriploidMosaic
    @aliplus3 - Hi aliplus. Tetraploid Mosaic babies have a 2nd set of chromosomes that contain 92 chromosomes, whereas our Triploid Mosaic babies contain a second set of chromosomes with 69 chromosomes. The thing is, the medical community almost always gives out the very negative information about ou
  • aliplus3
    I have a lady on my pregnancy board with me. She said her baby has tetraploid mosaic disorder. I was wondering if it was the same thing as what is mentioned here. I would love to share this website with her to give her some insight, but I wanted to make sure it was the same thing. She is under the a
  • DiploidTriploidMosaic
    Yay!! I'm glad you found us! I've SO ENJOYED getting to know y'all on Facebook, and I'm glad you are able to see David's pictures from his earlier years! It was my hope that I could make a whole history for David on this page. Life has taken a few turns, and I've not finished it..yet. But will
  • elainedunne
    Hello David and Julie, you have a new little friend in your unique world and her name is Lola Starr....she will be 18 months old on the 18th January, and was diagnosed with Diploid Triploid Mosaicism just two months ago - the day she was 16 months old. Thank you for allowing us to see into your wor

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Memories (1)

  • DiploidTriploidMosaic
    I was born, full term, 3 pounds 5 ounces on February 23rd. I was very tiny, but I was a beautiful baby! I had long black hair and big button eyes, but my hands and feet were deformed, and my face stopped at my upper lip. Mommy was surprised that I was so small. I was in the hospital for 2 months