Diploid Triploid Mosaic Syndrome, or Mosaic Triploidy

thejae
1 Recommendation

In the last few weeks, I've begun searching for moms and dads of children who have been diagnosed with Diploid Triploid Mosaic Syndrome, or Mosaic Triploidy. Right now, there are 17 in the world, that I'm aware of, and to my knowledge, my son David is the oldest known living Mosaic Triploidy in the world.

Back in 1991, when my son was first diagnosed, there were only 8 Mosaics. 7 had lived to be 12 years old, and only 1 had lived to be 21. David is now 24, and I've begun to meet new parents of children with this disorder. Each parent I've spoken with, or corresponded with, describes the incredible loneliness of being the "only one". I see that a lot on here, in the NORD forum. I can identify.

There is virtually no medical support for Mosaic Triploidy families, because their doctors don't know about this syndrome...99.99% of the medical community has never heard of Mosaic Triploidy, much less ever seen a case of it. Consequently, the information doctors do find online, that they pass on to the newly diagnosed family, is quite bleak and heart-rending...things like "you better get prepared for your child not to survive".

In light of the overwhelming isolation of Mosaic families, I recently started a support group in Yahoo Groups. This group is targeting families of children faced with the rare genetic disorder, Diploid Triploid Mosaic Syndrome, or Mosaic Triploidy. The website address is: http://health.groups.yahoo.com/group/Mosaic_Triploidy/

To new parents: If you are just now finding this, it probably means that your child has just received this diagnosis, and you probably have have a lot of questions, and are going through quite an emotional upheaval.

I want you to know that there are living Mosaic Triploidy children, and that though there are struggles, there are wonderful rewards...and our children are great! We love them marvelously, and most of us think our children are Angels, sent from God!

We who have traveled the road 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.

7 replies

Louise58

Hi,

It is great that you reach out to others that are going through what you have. It is good to have those with experience help those newly diagnosed.

Can you tell me what chromosome(s) is effected. I have worked with children born with disabilities for years and I have never heard of this diagnosis. I hope your son David continues to lead the way for others. Thank you for supporting those in need, David islucky to have you.

Louise

thejae

Thank you, Louise, I truly appreciate your saying that.

It isn't surprising that you've not heard of David's disorder. The overwhelming majority of the medical community has not heard of it either....so you are in good company! :)

The answer to your question is a little complicated, in that David has 2 populations of cells in his body, and in one population, NONE of his chromosomes are affected, and in the other, they ALL are affected.

"Diploid" simply means 23 pairs of 46 chromosomes. 99% of the human race is "diploid", meaning a human being is designed to have 23 pairs of 46 chromosomes. Males are 46XY, and females are 46XX.

"Triploid" means 23 triplets of 69 chromosomes. Triploid males are 69XXY or 69XYY, and triploid females are 69XXX.

"Mosaic" means that a person's blood has normal chromosome structure and count (46XX or 46XY), but that their body tissues contain some kind of abnormal genetic cell structure, which is not present in their blood...it's only in their tissues. If you were to analyze their blood, there would be no sign of abnormal cells.

A person with Diploid Triploid Mosaicism has normal diploid blood (23 pairs of 46 chromosomes), but has body tissues that contain triploid cells (23 triplets of 69 chromosomes). A karyotype of their blood would reveal only 46XX, or 46XY, but if you karyotype a fibroblast of their tissues, you would see not only the diploid cells, but triploid cells as well, or 46XX/69XXX, 46XY/69XXY, or 46XY/69XYY.

David's tissue chromosome structure is 46XY/69XXY.

"Triploid" is often confused with "trisomy". A trisomy cell has a 47th chromosome on one of its pairs. The most well-known trisomy disorder is Trisomy 21, and is bettern known as Down's Syndrome. In a trisomy patient, all the cells in their body contain 47 chromosomes, whereas a triploid patient's cells contain 69. In a mosaic triploidy, only some of their body tissues contain 69 chromosomes, the rest, including the blood, contain 46.

I hope all that isn't too complicated or lengthy for you. David's condition is rare, and not the easiest thing to describe, unless you are familiar with the terms. Until David was born, I didn't know most of this terminology...and even after 24 years, I find it hard to explain in simple terms.

Thank you, again, for asking. And, thank you for working with our special population...I call them "Joy Kids", as they bring so much joy to our lives, and enrich us greatly, every day. Truly, Louise, I wouldn't have made it without folks like yourself, helping me with David along the way, and walking this journey with me...so, Thank You....for all you've done for so long. You are a blessing!

Have a great weekend, m'Lady...
Take care, Julie

Louise58

Hi Julie,

Your explanation was great. I appreciate it and it was not to complicated for me.

I really have to tell you that the children, their parents and families that I have worked with have given me more than I ever gave them. But thank you for your kind words.

I was injured a yr. ago and a few docs think I was born with a problem and a few think I tore my spine and it caused the problem. Either way I have learned what those with disabilities go through first hand. I thought I knew, it is harder than what it appears to others. How others look at a person is overwhelming at times.

I wish you, David and your family the best of health, happiness and luck in life.

Louise

thejae

Hi Louise,

I'm so sorry you are having to experience life with disabilities first hand! I hope and pray that your community takes care of you with the same spirit and dedication that you helped others before you were injured.

Life with a disability can very much be overwhelming, and the responses of others can often be painful. I am so very sorry you are having to go through that! People just do not realize that, in reality, each and every one of us live potentially one second away from devestating circumstances or a profound disability.

There are times I find myself having to use WallyMart's electric cart, because an old injury to my hip flairs up, and for several weeks, I am unable to walk.

Because of my experience with David, I guess, I feel a freedom to beebop around the store with a smile and humor...telling other customers (particularly the elderly) that if we raced, I bet they'd win...and they always laugh. I promise not to run them over, and they like that...haha!

I smile and with as much heartiness I can muster, sometimes have to ask a perfect stranger to hand me an item off the top shelf....and very often I purposefully choose a person who themselves looks a little downtrodden, like they need to be needed, like they feel invisible. That seems to brighten their day. Noone loves being appreciated more than someone who feels invisible.

So, those times you feel overwhelmingly invisible or downtrodden, maybe ask someone who looks like they feel the same way you do, to do a small favor for you. You'll both be blessed!...and you'll leave smiling and encouraged.

Hugs, Louise...if I were nearby, I'd do what I could to help you, gladly, for all you've done for families like mine. May God bless your day, Sweetheart!

Take care, Julie
PS...I hope to hear from you again, to let me know how you are along the way...I'll be praying for you! Til then...xox

EdinNJ

Dear Julie,

Sincere congratulations on your fine networking efforts. I noticed that Julie Gordon, who runs the MUMS National Parent-to-Parent networking program www.netnet.net/mums , indicates that 2 parents had registered with her who have children with:

Diploid Triploid Mosaicism (46;49 Mosaic)

Diploid Triploid Mosaicism 69XXX(18) 46XX(2)

Those two families are probably already among your 17 families, but I thought I would mention it, just in case you haven't yet contacted that Julie at 1-877-336-5333.

Take care and hope, - Ed

thejae

Hi Ed!

Thank you so much for writing, and THANK YOU for the information! I will definitely call Julie, and make sure that these babies and families are either in our system already, or get them connected with the other Mosaic families!

In just the last 2 months, I've found 6 moms...who all thought they were alone.

If you hear any other leads, please let me know!
Take care...Julie

natalia

Hello,

My daugther is 8 years old and with a diploid triploid mosaic 46xx(50%)69xxx(50%).

So you can add another to your list. Is incredible that the medical community has never heard of Mosaic Triploidy, but is true.

Thanks to let me know I'm not alone.

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