Sunday, April 10, 2011

Thanatophoric Dysplasia


Information below from the Genetic Home Reference Website with added notes from me!



What is thanatophoric dysplasia?

Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.
Researchers have described two major forms of thanatophoric dysplasia, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.
The term thanatophoric is Greek for "death bearing." Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help.


Jamie Lynn was diagnosed with Type I.  At birth, she presented with a very small chest, tiny arms and legs but with large folds of skin.  Her facial features were consistent with most other dwarfisms.  Large forehead and tiny nose.  Her diagnosis was confirmed by X-rays at birth.  She died an hour and fifteen minutes after she was delivered via c-section.  We opted to not do extraordinary measures so that her time with us was peaceful.  It seems that most of the ladies online have an average of 1-2 hours post birth, but I do know of one baby boy that lived for 75 hours.  As of 2010, there have been only 4 individuals that have survived into childhood.



How common is thanatophoric dysplasia?

This condition occurs in 1 in 20,000 to 50,000 newborns. Type I thanatophoric dysplasia is more common than type II.



Every few months we have a new member on our online support group that either is diagnosed with some sort of dwarfism, usually a fatal form.  In my online world, I have only "met" one mom with Type II since 2009, but several with Type I. 






What genes are related to thanatophoric dysplasia?

Mutations in the FGFR3 gene cause thanatophoric dysplasia.
Both types of thanatophoric dysplasia result from mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe disturbances in bone growth that are characteristic of thanatophoric dysplasia. It is not known how FGFR3 mutations cause the brain and skin abnormalities associated with this disorder.
Read more about the FGFR3 gene.



The FGFR3 gene drove me mad during my  pregnancy.  After much investigation, there are actually four dwarfisms linked to FGFR3.  Three which are fatal, and the other one?  Normal dwarfism, known as Achondroplasia.  It appeared that it was all about which Amino acid receptor mutated.  It was so frustrating to know that Jamie could have very well lived if the gene had just been a "tad" different!






How do people inherit thanatophoric dysplasia?

Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. Virtually all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their family. No affected individuals are known to have had children; therefore, the disorder has not been passed to the next generation.


Basically, when our babies are conceived, a new mutation occurs.  The experts feel that it is one of those conditions that goes under the heading "Lightning Strikes".  They feel that lightening strikes are so rare and having two strikes is almost unheard of.  This is why we decided to go ahead and try to have another child after Jamie.

 Is it completely impossible to have another baby with TD?  No.  There have been case studies of a woman who had three consecutive TD births.  However, most women I "meet" online with same diagnosis go on to have healthy children.  Does that exclude other possible chromosomal issues?  No!  I won't lie when I say this isn't easy!

 

Where can I find information about diagnosis, management, or treatment of thanatophoric dysplasia?

These resources address the diagnosis or management of thanatophoric dysplasia and may include treatment providers.
You might also find information on the diagnosis or management of thanatophoric dysplasia in Educational resources and Patient support.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.






I would copy all the information linked above, but it is gargantuan!  Our story?  


Diagnosis: 
 Jamie was diagnosed at her 18wk Anatomy Scan (ultrasound).  The radiologist ONLY found shortened limbs of ALL long bones (meaning legs and arms).  He did not note any other irregularities.  He had us consult with our OB for options.  The first diagnosis we were given were actually chromosomal issues.  They included T21 (Down Syndrome), T13, and T18 (both which are pretty fatal).  Our OB suggested that we have an amniocentesis.  Termination of the pregnancy was offered at this point.  We stated that was not an option for us.  And for those who wonder, we are Catholic, but it our religion really didn't play into this fact. 

 My L&D background did.  



We had an amniocentesis done two days later.  We received our phone call from the OB on a Sunday.  Good news?  Yes, the baby's chromosomes were normal, which indicated no T21,T13,T18.   The bad news?  Something was still wrong with her.   

We were directed to our perinatologist.  At our appointment, he scanned our baby and immediately said that he felt that the baby had a fatal dwarfism.  Either OI (Brittle Bone Disease) or TD.  This is where I am going to be honest.  He made this decision pretty quickly and immediately offered termination.  After we expressed our feelings about termination and that we would carry NO matter what, even if the condition was fatal, he finally took more time.  All of a sudden, he felt that he baby (we did not want to know her gender...we like surprises!) might possibly have achondroplasia ("normal" dwarfism).  I only mention this because the medical community seems to be real quick to offer termination. 
 What you don't know?  MOST women opt for termination because they don't know that they CAN continue their pregnancy. 

Off to the Children's Hospital we went.  They did another extensive ultrasound and a Fetal MRI.  We received the results a few weeks later (she was approximately 24wks)  that indicated that Jamie had Thanatophoric Dysplasia with a differential diagnosis of achondroplasia.  

Hindsight?  All we needed was to make sure that the amnio included a genetic mutation screening for dwarfism.  It would have made things so much easier!  That little bit of hope that she had normal dwarfism hung at the back of our heads.  AND there was a possibility that she had a new form of dwarfism.  There are over 200 types of dwarfisms and new ones are diagnosed constantly.


Management?
  The remainder of our pregnancy consisted of numerous ultrasounds to track her growth, my amniotic fluid levels, and her general health.  She was a trooper and would surprise them with her activity inside.  She made fetal breath movements, which indicated that she was trying to breathe.  Her brain always looked healthy and normal, and her heart was strong.  When we reached 28wks, my amniotic fluid levels started to increase.  By 32 wks, we had reached epic proportions!  A normal AFI is about 8-18.  By the end of the pregnancy, we reached 54!   I looked like I was carrying twins, and it started to considerably compromise my breathing (history of asthma) and started taking a toll.  It also indicated that Jamie was expelling too much fluid and not "breathing" which would level the fluid out.  This and the fact that the ventricles started swelling were the catalyst to decide to deliver just shy of 36wks.  Any longer, and she would have been stillborn.




Treatment?  

We had none.  You cannot "fix" the fact that every single cell of her body had this disease.  The reality is that her trunk and head were growing at normal or above normal rates, and her limbs were lagging behind.  By 35+wks, her head was measuring at 41wks and her limbs were still behind 17wks.  Yes, you read that right.  Her limbs never even measured the length that they should have been at her anatomy scan.  It was devastating.



Delivery?  
We had to deliver via c-section due to the fact that she was breech presentation, which seems to be a common theme amongst the moms that I have communicated with.  The fear of a vaginal delivery is that they are likely to have entrapment problems.  Their bodies' would be delivered without difficulty, but their heads could get caught in the pelvic area and cause severe damage.


This actually worked well for us, because we had read that vaginal deliveries can compromise normal dwarfism babies also.  Their tracheas' are so short and can be easily closed off by their larger than normal heads.  We figure this gave us the time with her that we wanted.

Birth? 
 So this brings me to her birth!  We first found out we had a girl.


 We actually had to ask because the L&D staff are so used to parents knowing already!  Our OB wrote in bright red...DO NOT TELL GENDER on our chart.  He even tucked the amniocentesis results in the way back of the chart!  We also
 finally could actually confirm her TD (remember that differential diagnosis of achondroplasia?) by X-ray.  




Her x-ray showed that her lungs were just too small to sustain life.  It was painful, but liberating in so many ways.  We did not have to do superhuman treatments to just prolong a short life.  We wanted to hold her and love her, not watch her in a isolette and not be able to touch her.  She was with us for 75 min.  The most beautiful and painful minutes of my life.



We miss her dearly.



Where can I find additional information about thanatophoric dysplasia?

You may find the following resources about thanatophoric dysplasia helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.



What other names do people use for thanatophoric dysplasia?

  • Dwarf, thanatophoric
  • thanatophoric dwarfism
  • thanatophoric short stature
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.



What if I still have specific questions about thanatophoric dysplasia?

Ask the Genetic and Rare Diseases Information Center.






Pass me a note or email me at boysbuttonsandbutterflies@gmail.com

I would love to "chat" with you! Just leave me a note in the comments section!




Where can I find general information about genetic conditions?

What glossary definitions help with understanding thanatophoric dysplasia?

autosomal ; autosomal dominant ; cell ; dwarf ; dwarfism ; dysplasia ; gene ; mutation ; new mutation ; protein ; respiratory ; short stature ; stature ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (3 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

70 comments:

  1. Wonderful post full of great information!

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  2. I never knew your full story, Heidi. You really are an amazing mom. Lots of love.

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  3. Thank you for writing this. Our baby is due 2nd June and has Type 1. We're in the process at the moment of trying to figure out the best birth plan, and have been frustrated by the care at the hospital in the last week just because they've been so rushed. We had thought that 'normal' birth was the best option, but as baby gets bigger I'm increasingly cautious. It helps to know that actually there is some wisdom in bringing him on early. We're in again on Tuesday, and what you've written has given us a much better idea of the questions we need to ask. The trouble is, the staff here had not heard of the condition, (except for 1 consultant), and the opinion in some quarters seems to be that if he's going to die anyway, it doesn't matter what happens. Needless to say, IT MATTERS TO US! We would so love to have even a few precious, if painful moments with him. Things are further complicated for me because my other 3 children were all born early, and the last one was a 30 minute labour. I would really like to be in control of this one so that he can have the best care afterwards - not to use extraordinary measure, but to make him as comfortable as possible for as long as possible.

    Anyway - again, thank you for writing. It's given me the confidence, which I'd lost for a bit, about the questions and descision we need to be making.

    And yes, the whole experience is such a heady mixture of love and pain - never knew I was capable of so much of both, especially at the same time! Jax

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  4. I hate that there a "newcomers" everyday to this crazy condition, but glad you found this helpful. Hoping this really does help you with your appointment. Feel free to email me (ahgrohs@entouch.net)if you need more information. I constantly add to the post b/c I remember something to add!

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  5. It really did help with our appointment - thank you again! We went back and spent 2 hours bashing out the options with an excellent midwife, over coffee on our own, and with a doctor too. Baby will come on Monday (as long as there's a bed free at the hospital), and will be induced. (If I don't manage to get him born before then - I'm trying EVERYTHING from a 5k run, to raspberry leaf to, you know, the other!).

    We are SO looking forward to meeting him now.:-) Can't wait...

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  6. Oh and thank you for the photo too - he looks totally adoreable!

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  7. How dumb am I? - I mean 'she'! Sorry!

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  8. I am so glad to hear you saying that you can't wait. That is exactly how I felt. Couldn't wait to meet her even though we knew it was going to be sad. By celebrating her with our family, we gained so much more! Will be thinking of you!!!!

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  9. I had a daughter named Lily Grace, who had TD1. She was born on June 3rd, 2004, and only lived 51 minutes. Now, I am wondering if taking anti-depressants could have caused, or effected it this, given all that is being said about them. If anyone else took them (or didn;t), and had a TD baby, please email me at crazy1csd@gmail.com.

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  10. Christy: My understanding after MUCH research is that TD is a genetic mutation at the moment of conception. Kind of like a quirk...with a devastating effect. I did take antidepressants AFTER she was born, but not before. And I was on them when we conceived our last child. He is quite healthy (knock on wood!)

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  11. Hi Heidi, I have just been diagnosed with TD1, my husband and I have without question decided to go ahead and carry full-term, after reading about you and others we don't feel alone and also can't wait to meet our little boy, he is the first boy on both sides of the family and we can't wait to see his little face even if it is only for a short time, thank you for sharing your story, you give us hope thanks Belinda

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  12. So glad to help. I am still working on adding posts from when I was carrying. I didn't have this blog then, so I try to backlog from a journal I wrote at the time! Enjoy your little boy while he is "here"!

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  13. Oliver Daniel was born at 3.20 pm on Monday 9th May 2011, and died in his daddy's arms shortly afterwards. He was so so beautiful. We miss him terribly. The hospital team were amazing, and let us spend the night with him - which seemed strange at first but we're so glad we did as we were able to share precious time with him, bathing him, dressing, combing his hair. Then we finally let him go at 10.52 the next day. Again, he was so beautiful.

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  14. Christie: I agree with Heidi - everything that we've learned from reading, research, and talking to the genetisist etc confirms that this condition is a random, sporadic mutation which occurs at conception, and any medication has no bearing whatsoever. You can't 'give' or 'cause' this condition, you can't even 'pass it down'. So be re-assured - it helped us to know it was a random but entirely natural event, and makes our babies extra special.

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  15. @Jax: It sounds like you had a beautiful time with Oliver! May you and yours be gentle to yourselves and much peace and love in the coming days, weeks, months, and years.....

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  16. I am on my way to the doctor tomorrow to see if I am dialated. My baby has been diagnosed with TD1. I am a GOD fearing woman who has a great support team. I truly believe this child will live as long and as peaceful as let by GOD. I am so thankful for all fo your stories. I have so much to say and ask but I am getting a little emotional right now. My email is seholloway131@yahoo.com please feel fre at anytime to reachout. Day or night! GOD BLESS

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  17. @seholloway: How did it go? FYI When Oliver died in his daddy's arms, we knew that he was going from the arms of one father to another, just as it should be. Doesn't take away the pain, but God said he would be in it with us, and he has been and is.

    Heidi: thanks for this site, and for your support, and for your kind kind words. Peace and love to you too...
    Jax

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  18. Thinking of all of you!!!!!

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  19. WELL I HAVE THE BEST NEWS. ON SATURDAY MAY 28TH NA'VITA MARIE WAS BORN AT 3:09 PM SHE IS AMAZING. SHE IS AND WILL BEAT WHAT ALL OF THESE DOCTORS THINK THEY KNOW. SHE HAS TD1 WELL I SAY SO WHAT. NA'VITA IS BREATHING ON HER OWN, WITH THE HELP OF OUR GREAT LORD. SHE IS IN THE NICU. HER NURSES ARE MY ANGELS TAKING SUCH GREAT CARE. WE VISIT WITH HER DAILY AND WILL BE GETTING INTOUCH WITH THE RONALD MCDONALD HOUSE FOR HELP WITH OVERNIGHT STAYS. NA'VITA HAS 2 OLDER SISTERS WHO ARE AMAZINGLY STRONG AND BALANCING SCHOOL AND VISITING THERE SISTER'S VISITS. I THANK EVERYONE ONE OF YOU FOR YOUR STORIES THEY HELPED ME ALOT WHEN I WAS GIVING BIRTH TO MY NEW ANGEL. LOVE ALL OF YOU! MY EMAIL IS SEHOLLOWAY131@YAHOO.COM I AM ALSO ON FACEBOOK SAMANTHA GREEN XOXO

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  20. I have an update on my daughter Na'Vita she left us on June 1st. She died in her daddy's arms in the morning. She has given strength to our whole family. Samantha xoxo

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  21. SO sorry Samantha. I am so glad you had such a beautiful time with her. May your family find peace in the coming days, weeks, months, and years......... ((((((((HUGS))))))))))

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  22. thanks heidi! i have found tons of strength through this journey, and I am not stopping once I clear my head I am spreading Na'Vita's battle with the world and how she proved these doctors wrong. I feel my story is strong and powerful and because of all of you I can truly say I do not feel alone, and I don't want not one woman or family to go through anything like this alone. It is because of the power of this blog from the power of our LORD above I am where I am NOW. THANK YOU TO ALL OF YOU xoxo

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  23. Hi Heidi! I read about your story on "Quilt Story" and came over to visit your blog. Your baby boy is adorable, and I love the quilt. From there I came here to read about Jamie Lynn, and it brought tears to my eyes. What a precious, beautiful little girl. You and others who have gone through what you & your family have, have my heartfelt sympathy. What strong, amazing women you all are.

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  24. Hi Heidi, I to have just come from "Quilt Story" to visit you. All your boys are adorable and your baby boy is super cute on your quilt. As I sit here with tears rolling down my face I think of the strong person that you, your family and the other families are. Thank you for sharing your story and your photos. Your Jamie Lynn is your Angel in Heaven but know that she has touched my heart like no other. Thank you xx

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  25. Just everyone reading about her warms my heart. The extra love and hugs bring a spring into my step!!

    Thanks so much for stopping by!!!!

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  26. Hi, we were told our baby had TD when we went for our 20 week scan, the doctors didnt really explain it to us and made us feel that termination was our only choice, We were told we would get a birth certificate for our baby but when she was born we were told we wouldnt as it was classed as a missed termination :( this was very hard to deal with, We had a little girl called Leah Emily in 2003, she was still born, We wish we had more info on TD at the time as we would of never allowed for the termination if we had known there was a chance we could of spent even a few minutes with our little girl
    This is wonderfull that you have made this so families can come and share a little of something that not many people know about
    Thank you xxx

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  27. nikkimc78: I am sorry for your loss. I imagine you miss her dearly! Thank you for your kind words. I decided to share our story because I find that many families don't know that they have a choice other than the one recommended by medical professionals. While I understand the choice some make to terminate, I just want to empower parents with information so they can make the best choice for their family.
    Sending (((((((((HUGS)))))))) your way!

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  28. Its a great thing you are doing, ifwe had knows that there was chance we coould of had even a few moments with leah we would never of just gone with what the medical professionals were telling us to do, keep doign what your doing its a really good thing, this site is the first ive come across in 8 years.

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  29. Thank you for sharing your story. July 15, 2010 my daughter Faith had Thantophoric Dypslasia. She lived for 12 minutes. I am currently pregnant with my rainbow baby. So far everything looks good. I am 12 wks along right now. I am not sure if you are aware but there is a group on facebook for those touched by TD.

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  30. We lost our second daughter, Harriet, on 31/12/97 nearly 14 years ago and I still think about her every day.

    I don't think so much was known about Thanatophoric dysplasia then and it wasn't a term we heard before she was born. A prenatal scan had picked up that she had a small rib cage and short limbs. Initially we were told she had brittle bones. What our doctor clearly told us was " her condition was not compatible with life" and she was induced at 26 weeks. Going to term was not really an option we were offered and in the state of shock we were in I guess we were not as assertive as we could have been. Either way, I expect the outcome for Harriet would have been very similar.

    Harriet cried at birth and lived for just under an hour, very precious moments. Like another lady who's story I read, we kept her with us overnight and had to say a final goodbye the next day.

    An autopsy later gave us the diagnosis of TD. Type 1 or 2 was not mentioned, but she did have a cloverleaf skull and brain abnormalities, so perhaps it was type 2.

    We went on to have another lovely daughter about a year later, but Harriet will always be a missed part of our family.

    Thank you so much for your site and sharing your story. Just having the opportunity to talk about ours feels good.

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  31. Thank you for sharing your story. Your daughter was beautiful. Love the cute button nose! My son has that cute nose too. He was born Aug. 2, 2005 and after a few weeks in the NICU, the diagnosis of TD was confirmed. He is now 6 years old and is one of the few survivors of TD. My hope is to share his story...especially to give hope where no hope seems to be given. You can see pictures of our little guy at www.caringbridge.org/visit/samuelmann. My email is evelyn@gotmustardseed.com.

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  32. I will keep Harriet in my prayers! Such precious little things that we hold so dearly in our hearts! Thanks so much for stopping by. Your comment made me happy because I worry that I will "forget" her in the future! I like knowing that she is always a part of us!

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  33. Eveyln: Your precious son is the one I included in my "Survivor" count. I lost track of him two years ago and had worried...so glad you stopped by and was so happy for your family that he is growing!!!

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  34. I am 21 weeks pregnant and received the preliminary diagnosis of TD1 monday. It is now friday and I am still reeling from the news. My husband and I were prepared for the possibility of an "issue" when our early NT scan came back somewhat abnormal. From there, online blogs gave me hope because our NT scan wasnt that extreme and many with similar results went on to happy healthy babies. Me and my husband decided that we could handle whatever the future may hold and refused further testing (CVS) Future ultrasounds showed a strong heartbeat, breathing and a very active baby (not so great on my bladder). We were excited to go to our level 2 ultrasound, because we wanted to find out the sex of our little angel. We watched in awe as the tech checked the heartbeat and it was beating wonderfully and appeared to be in perfect condition ( we were concerned that the heart may have a defect as a result of our NT scan). After the intial scan the dr came in and proceeded to recheck the measurements taken by the tech and then delivered the devesating blow. Our first child lovingly concieved on our honeymoon would not survive. We have just had our amnio and are awaiting confirmation of the diagnosis. We were able to find out that we are having a baby girl. We are now in the decision making process, although we are leaning toward going full term or untill nature/god intends. I cant imangine ending the life inside me while it seems to be having a ball inside (I dont mind the kicking of the bladder anymore). I am beginning to find comfort in gathering information and listening to those who have had similar expierences. Thank you all for sharing. We are still hopeful to continue our family in the future but there is no doubt that our little angel will forever leave her imprint on our hearts and our lives.

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    1. I am SO sorry you found yourself here! I can honestly say that carrying her was the most fulfilling thing I have EVER done in my life...Please feel free to email me directly at boysbuttonsandbutterflies@gmail.com.

      Also, make sure you look at the links I have in the sidebar at my second blog http://jamiesbutterflykisses.blogspot.com/. There are alot of online support groups and websites that are very helpful!

      ((((HUGS)))))

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  35. Hello... My name is Amanda. I would love to speak with you privately over email perhaps. I am currntly 32 weeks with my son. He has type 2. I have some questions and concerns that I cant seem to get answers to from my doctors. Please email me Amandacalvin_91@hotmail.com

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  36. hi heidi wanted to say thank u for all your information on thantaphoric i lost my daughter on the 10 02 2012.but was never told about her condition until 21 12 11.and still nothink was exsplained when i asked how this happened to my baby girl was told genetic mistake.i carried my angel to term she was born on 03 02 2012 she was breathing by herself for nearly 3 hours then they intubated her with no permission her tubes was removed on the 10 02 2012 she was with us for 1 hour and 10 mins.I wouldnt change anythink about my angel she was perfect just wished i could of changed my consultant so we could of prepared special things for her just out of curiosity was you in a london hospital.thank u again god bless xx

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    1. I am thinking of you...I am sorry for your loss. And to answer your question, No..we are in Texas, USA.

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    2. Congratulations on the birth of your precious daughter.
      We also lost our daughter to TD last summer.
      I am in London - do you want to talk?
      caroline.friel@talk21.com

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  37. I am so sorry for your loss. I stumbled upon your site because we are TTC #1 after a miscarriage and my husband has a genetic disorder, so I've been doing some research. I have been crying for the last hour, reading stories of the strength of infants and moms after a fatal diagnosis. I felt compelled to drop a note just saying how amazing I think you and your Butterfly Kisses organization are. It's truly inspiring to see you helping families get through these experiences. Thanks for doing what you do. All the best to you and your family.

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  38. Thank you for sharing your knowledge and story. In 2007 my daughter was diagnosed with TD, I was 5.5 months along. I never heard of TD before and thought it was something I did wrong, I have a son who was born just fine no problems then 10 years later this happens. The doctor gave us two choices, I could terminate the pregnancy or have her but not walk out of the hospital with her. We decided to terminate the pregnancy thinking it was the humane thing to do but I had no idea that I could of had time with her even if it was 20 minutes holding her but I didn't know so I live with the decision everyday. I decided not to have anymore children for fear it would happen again.
    Thank you again for sharing this very important information and also for making me feel like I am not alone, God's Blessings. Cecilia Rose Morales went home on 11-9-2007.

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  39. This comment has been removed by a blog administrator.

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    1. Please contact me at boysbuttonsandbutterflies@gmail.com for the reason of deletion. It is not about you...but about my blog.

      Delete
  40. My son Michael passed on Aug. 25th 1998. His TD1 was discovered during a routine ultrasound. A doctor filling in at the practice came into the room and said "Im sorry, your son has no chance of survival." I remember thinking "Huh, the room actually does spin when you get horrible news just like in the movies". He made us an appt. with genetic specialists and then walked out.After much testing and being told not to get our hopes up (we did) TD1 was confirmed.We had to toughen up during a tough time and we did. We asked lots of questions and did research on our own. We were told our son was struggling because of the severe chest/rib abnormalities so we decided to induce and end his suffering. My original doctor took over and was wonderful.My husband and I, our parents and the priest that married us were all able to see, hold and talk to Michael.He was baptized, given some special gifts from home (a baby blanket just like our first son had, a stuffed dog and a baby ring).When a nurse asked if we would like her to "warm the body" I knew I couldnt take anymore.We said our final goodbyes and went home.My doctor called to check on us a few days later and when I told him my arms had cramps he informed me I had "phantom baby" pains.When a woman has a baby and then for whatever reason cant hold it her arms will sometimes physically hurt.We both cried.People wont always say the right thing to you when you go through this and some will judge you and your choices but most people mean well and remember this is YOUR baby and YOU make the choices as best you can in a difficult time. Unfortunately you probably will second guess yourself later I think it just happens for all of us. I get comfort thinking that no matter how hard it was to lose Michael maybe if he had been born to a different family he would not have been honored and loved like he was. A few weeks after his death we had a small family memorial at our home.We have a beautiful stone with Michaels name,birthday and a baby angel engraved on it in his flower garden,every birthday we let a balloon go and every Christmas we buy a special ornament for him (just like our other 2 children)and donate a gift I would have bought him to toys for tots. A man I worked with lost his daughter in a car crash and told me that the pain of losing a child is like having a big ugly stump outside your front door and every time you leave your house you trip over it and get hurtbut eventually you will remember its there, plant flowers around it and enjot its beauty.Sounded crazy at the time but is sooooo true now. I hope my story helps someone like other stories helped me. For another uplifting story google "KOLBYS STORY: Thanatophoric dysplasia personified."Little Kolby survived 13 days. Heidi thank you for being such a good mom and sharing your beautiful Jamie Lynn with us.Thinking of you all and praying for a cure.

    ReplyDelete
  41. Just found your blog while doing some research. We lost our daughter on 7/9 (she was born on 7/7) to Thanatophoric Dysplasia. This post was an encouragement. I haven't been able to connect with anyone that has gone through what we have.....until I found your blog. Thank you for sharing your story.

    ReplyDelete
    Replies
    1. Good day!

      My name is Angelyn Albay and I'm from the Philippines. I have read several of your blogs regarding thanatophoric skeletal dysplasia on Google. I'm seeking for people who's the same case as mine. January 18, 2016 in my 20weeks pregnancy I was diagnosed to have a multiple congenital anomaly specifically the case of TD. The doctor explained it to us that this is a very rare case that happens in every 1:20,000 live births and this is also fatal. We don't have history of this case in both of our families. This is actually our second baby. Our first baby was almost the same case with the second. Both diagnosed to have hypomineralized cranium, hypoplastic nasal bone, narrow thoracic cage, marked shortened and deformed long bones. It was heart breaking for I and my husband are expecting to have a healthy baby for the second time around. Since our country is a
      Catholic nation, our doctors suggest to let us treat my pregnancy as a normal one. I continue taking my vitamins and milk. Regular check up every month and almost every week. On my 28th week I was diagnosed to have a gestational diabetes which lead us to a more careful diet. Hoping and praying for miracle, we continue treat my pregnancy as healthy as we can. March 17, 2016 is my follow up with the OB. Same day the doctor said that they cannot appreciate the heartbeat of my baby and we need to have a pelvic ultrasound to check it more accurately. My heart is beating so fast, acting as strong as I can. In that moment my husband is working and I don't want to give him such news. He is praying for a miracle for our baby and I don't want to broke his heart. Preparing my self for the worst case scenario, I call my husband and told him to went in the hospital as soon as he can. We prayed together that God will give us strength and never lose our faith. March 18, 2016 after almost 13hours of labor at 9:50 am I normally deliver to a baby girl. She's 30 weeks and 2 days old. Stillbirth. That day is the most quite time of our life. Throwing back all the Happy memories in my entire pregnancy in my mind. I still thank God for I am safe and baby is back our heavenly Father. We buried our little angel's body last March 20, 2016. In my recovery stage, I'm still praying and hoping to find help for we still wanted to have a baby that will complete us. In reading your blog, I have so much questions if we can still conceive another healthy baby for the third time. In our country, health is being prioritize by the government but in such rare cases we don't know if they have researches or organization that will going to help us. We hope that this message will reach you. Thank you.
      angelynalbay@yahoo.com

      Delete
    2. Good day!

      My name is Angelyn Albay and I'm from the Philippines. I have read several of your blogs regarding thanatophoric skeletal dysplasia on Google. I'm seeking for people who's the same case as mine. January 18, 2016 in my 20weeks pregnancy I was diagnosed to have a multiple congenital anomaly specifically the case of TD. The doctor explained it to us that this is a very rare case that happens in every 1:20,000 live births and this is also fatal. We don't have history of this case in both of our families. This is actually our second baby. Our first baby was almost the same case with the second. Both diagnosed to have hypomineralized cranium, hypoplastic nasal bone, narrow thoracic cage, marked shortened and deformed long bones. It was heart breaking for I and my husband are expecting to have a healthy baby for the second time around. Since our country is a
      Catholic nation, our doctors suggest to let us treat my pregnancy as a normal one. I continue taking my vitamins and milk. Regular check up every month and almost every week. On my 28th week I was diagnosed to have a gestational diabetes which lead us to a more careful diet. Hoping and praying for miracle, we continue treat my pregnancy as healthy as we can. March 17, 2016 is my follow up with the OB. Same day the doctor said that they cannot appreciate the heartbeat of my baby and we need to have a pelvic ultrasound to check it more accurately. My heart is beating so fast, acting as strong as I can. In that moment my husband is working and I don't want to give him such news. He is praying for a miracle for our baby and I don't want to broke his heart. Preparing my self for the worst case scenario, I call my husband and told him to went in the hospital as soon as he can. We prayed together that God will give us strength and never lose our faith. March 18, 2016 after almost 13hours of labor at 9:50 am I normally deliver to a baby girl. She's 30 weeks and 2 days old. Stillbirth. That day is the most quite time of our life. Throwing back all the Happy memories in my entire pregnancy in my mind. I still thank God for I am safe and baby is back our heavenly Father. We buried our little angel's body last March 20, 2016. In my recovery stage, I'm still praying and hoping to find help for we still wanted to have a baby that will complete us. In reading your blog, I have so much questions if we can still conceive another healthy baby for the third time. In our country, health is being prioritize by the government but in such rare cases we don't know if they have researches or organization that will going to help us. We hope that this message will reach you. Thank you.
      angelynalbay@yahoo.com

      Delete
    3. There is a great group (closed) on Facebook: Thanatophoric Dysplasia Support Group

      Delete
  42. Hi - just found your blog whilst researching. You should be proud of what you are doing. We lost our little girl on 9th March 2006 - Ashlon. Not sure if she was type 1 or 2 however all our correspondence indicates a cloverleaf skull so I assume type 2. We did not know we had a choice and made the best decision we could at the time. Blogs like this help provide a choice. Thank you for your work for others.

    ReplyDelete
  43. My husband and I lost our daughter, Lucy on May 9, 2012. Lucy was born stillborn. She was dx with TD type 1. Miss her so much.. :'(

    ReplyDelete
  44. I just found out that my daughter has thanatophorix dysplasia. I have a 2 year old daughter who is completely normal. The doctor told me and showed me on the ultrasound how small her cheat cavity is and how lungs will never grow to sustain life. I am 22 weeks pregnant and have made the descion to termante the pregnancy. I can not mentally go through the process of giving birth and watching my child die. We are going to cremate her and hold a service for family at my house. I did do the amniocentesis to make sure this is what she has and it is not genetic. If you could pray for me I would appreciate it. This is the most difficult descion I have made in my life.

    ReplyDelete
  45. Beautiful words
    I lost my little boy in 2010 :( due to type 1
    I had a little girl in 2011 who is one now :) perfectly normal
    But just had a 12 week scan and they think my baby may have this again :( just want to cry

    ReplyDelete
  46. Thank you so much for sharing... my husband and I lost our daughter to TD this past June so it was a rough summer. Planning for the birth and death of our baby was very difficult, but it needed to be done. At the time, my husband had a broken leg and ankle, so we decided to induce at 37 weeks. This way, driving arrangements were taken care of, and our immediate family could also plan ahead to be there for the birth. Our birth plan focused on care and comfort rather than trying to extend her life. When she was born, she did not cry, it's as if she was sleeping. The nurses checked her heart and it was nice and strong. They checked her often, almost every 5-10 minutes, until there was no more heartbeat. She lived for 43 minutes... since we knew she would die from respiratory failure, I was afraid she would be gasping for air, but she died very peacefully in my arms. It was a painfully beautiful moment... we too, made the most of her short life. Everyone got to hold her, she was baptized by grandpa, and we all took pics with her. Happiest of all was big brother, who at 4yrs old had practiced holding Tickle Me Elmo, to get ready for his moment with his baby sister. He brought everyone to tears (more tears since we were all crying already) with his spontaneous rendition of Twinkle Twinkle Little Star & Rock-a-bye Baby as he held her! Those 43 minutes are forever etched in my memory... and we am so thankful we had them. I'm also very thankful we found out her fatal diagnosis before she was born, so that we were able to prepare and celebrate her life the way we wanted. I've heard stories of families not finding out until the baby's birth. Her short life has truly made me a stronger person. We miss her dearly and think of her often... her big brother says he sees her and talks to her a lot, and he tells me how she's doing!... thank you again for sharing.

    ReplyDelete
    Replies
    1. Thanks for stopping by and sharing your story!

      Delete
  47. I am 23 weeks pregnant and a couple of weeks ago found out my baby has been diagnosed with TD. I have since had an amnio to confirm this. I am in shock and denial at the same time. I have a healthy 6 year old daughter and my husband and I are were so excited to finally add to our family. Now we face the hardest decision of our lives. I am unsure if I can actually wait till the end to deliver as I feel the baby moving inside me. Then on the other hand the thought of termination is too much. Reading everyones comments and knowing there are other people out there is a comfort. I had never heard of TD before and just knowing there is a support group out there is helpful. I thank everyone for their stories and pray for all of us who have had to go through this difficult time...will keep in touch...Grace.

    ReplyDelete
  48. Hi! I loved the beautiful pictures and your story. My daughter is due Dec. 29th. Her perinatologist has also advised a C-section since Waylon is also breech. We know that he has some type of skeletal dysplasia...My daughter had an US at 20 weeks and we were able to find out that it is a boy. I was a little apprehensive...I am a nurse too...and with the quietness in the room, I just KNEW something wasn't right. Her doctor's nurse called that afternoon to give her the news OVER THE PHONE that the baby wasnt growing right and she needed to see a specialist. Waylon's long bones have measured less than 2.3% thru the entire pregnancy. We were told to expect fetal demise or stillbirth. Our long bone to head circumference or abdomen ratio was .138~and anything less than .16 is considered fatal. Femur bones looked bowed, possible fracture but they didn't think it was. One perinatologist said his throax looked bell-shaped but the other 2 doctors said they didn't think so. Searching skeletal dysplasias online kept leading back to TD. My daughter had already said she wouldn't consider terminating the pregnancy...so their advice was~ it doesn't look good "but don't panic yet". She did an amnio...which screened for Syndromes like Trisomy 13, 18 and 21, and chromosomal disorders. We were told they would test for dysplasias also. My daughter went back in for labwork and an achondroplasia panel was done. It was also negative. After reading online that most find out about Thanatophoric Dysplasia thru amnio, I asked why this wasn't done and was told that in our area...North Louisiana...the reference lab no longer runs this panel. So, we are waiting and waiting...and waiting. The last measurement showed a straight femur....a healthy looking chest and good attempts at breathing. All long bones are still measuring short~ less that 2%...but we did see a foot up by the mouth on ultrasound...so we are wondering if they are as short as we are being told??? We still believe in miracles...and are hoping that if this is Thanatophoric Dysplasia that God has done some amazing healing. We have a genetics visit this week with Dr Harold Chin. He has published several books on skeletal dysplasias and is an expert in this area. Just wanted to give a word of encouragement to those who may not be able to get a definitive diagnosis (thru labwork) during pregnancy...don't give up hope! I will let you know what we find out. Remember your doctors are giving you their best guess based on their knowledge...but it's only science. God has the final say and regardless of the outcome...we have seen miracles just thru our experience so far. Hugs and prayers to all going thru this experience! Melinda

    ReplyDelete
    Replies
    1. Hi Melinda, I am going through the same issues now i am 32 weeks and have had all the testing that is possible and still no answers. I was hoping you could tell me what came of your situation. everything you describes is basically the same in my situation they thought initially that it was not the TD due to everything else looking non lethal however now they are concerned due to the cloverleaf shape of the skull, every time i seem to go to the doctor it is more bad news i am trying to stay positive however it is very difficult. i also have been diagnosed with 2 placentas, recent kidney stones, and cysts on both of my ovaries also, Preeclampsia and diabetes, on top of worrying about my precious daughter inside i now have my own health risks i am dealing with i just don't know what to do anymore. i keep praying but it is very difficult to see the light at the end of this tunnel.

      Delete
  49. I just lost my daughter on 2/24/13 to Thanatophoric Dysplasia Type 2. Like all the other women on here, I am so grateful to have found a place to come and read about other experiences that are so similar to mine. In such a trying time, it is comforting to know I am not alone and that so many other wonderful people have found a way to move on. Thank you so much for starting such an inspiring blog to bring us together.

    ReplyDelete
  50. Hi. My little demi was born 5th July 2013 . She was diagnosed with td at 20 week scan . I had my labour induced at 21 weeks . I couldn't go to full term it was too painful for me . She was born . It took every bit of courage I had and took her into my arms . The shock went the love came .the peace and sorrow I felt was unbelievable . She was perfect in every way to me I was her mum . She was 20 cms long and weighed 12 oz . We have little demi funeral next week . I feel for every single mummy here . You are not alone . Bless all the little angels . Thankyou for all your story's they have helped me so much .

    ReplyDelete
  51. This comment has been removed by the author.

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  52. This comment has been removed by the author.

    ReplyDelete
  53. Hi there, we'll our story starts with my youngest daughter, who had 1 normal healthy baby boy, after 5 yrs of trying finally my daughter finds out she is PREGNANT, O how wonderful. This will make grandbaby number 7!!
    She develops some bleeding a few weeks in and is told she has some kind of hematoma, ultra sounds show a healthy fetus so far.. so she goes on with her pregnacy, and is passing out, not feeling at all well. So they take her off work very early in her pregnancy.
    Two days ago sept 8th 2015, we were over jotted to find out she was getting her Lil girl she wanted.
    After we were Givin such amazing news!
    She gets a diagnosis of TRISOMY13. Omg what is that??? We research everything on it for 24hrs, then we are rushed to a bigger city bigger hospital and more genetic drs.
    Ultra sound again, to find out baby Mary does not have trisomy13, but a vary rare dwarfism. Ok we can live with that! Well it's type 2 ugh the lethal one. She is alive in mommy's tummy, but can't survive outside :(
    2 choices were given to my daughter . Heart WRENCHING! TO DAY THE LEAST. The two hour car ride home was so quit u could have heard a pun drop.
    As I sit in the middle seat of the mini van, I look back and see my beautiful daughter had cred herself to sleep on her husband's lap. She looked so young 25 and peaceful but even through the sleeping look u could see the stress pouring out. The sadness seeping from every pour in her skin.
    I quietly cried tears for her. And remembered the day I held her for the first time. And the joy I felt.
    Now, she had choices to make NO MOTHER SHOULD EVER have to choose
    Induce at a lil over 23-24weeks or hold out and keep feeling her baby move and growing inside her. Until January 16th or so her due date.
    I came in my house dropped my purse fell too knees and beat the floor, and then stood up starting to make the calls to family and friends.
    Finally got some sleep after hrs and hrs of seeing the scans whenever I closed my eyes.
    Woke up this morning with swollen eyes the heaves heart and more tears.
    My husband works the graveyard shift, he came home with a pc of paper with a name written on it for portraits if her and her baby when she makes her choice.
    I call her and explain the portrait thing. And do ypu know my beautiful Daughter told me?????
    She made her choice!!! She is carrying Mary to term and letting God take it from there. !!! I have never in my life been prouder of anyone of my 4 children!
    My Youngest daughter just showed me how to love bigger than anyone one mom I've ever known!!!!!
    So in January 2016 I will be made a gramma of 7 and the proudest mother in the world right now

    ReplyDelete
  54. Thanks for your awesome, informative post. My wife is 20 weeks pregnant and our child was diagnosed as having Thanatophoric Dysplasia. It is our first pregnancy and we were prompted by the doctors several times on our "plan for the pregnancy." We have said from the beginning that we will go forward with the pregnancy no matter what. It is helpful to read about the information you gathered and your experience. This has been a tough experience to go through especially during the holidays. We were at Christmas parties this weekend and everyone was asking us about the baby and pregnancy... I will share this info with my wife tonight. Thanks again... and blessings to you!

    ReplyDelete
  55. Только ваш рассказ позволил мне успокоиться...Так как ваша история изложена с такой любовью...Ваш рассказ отличается от моей истории, только полом ребенка. Все идентично. 9 июня 2015г., через два дня после своего дня рождения я родила мальчика Кристиана, танатофорная дисплазия...

    ReplyDelete
  56. Good day!

    My name is Angelyn Albay and I'm from the Philippines. I have read several of your blogs regarding thanatophoric skeletal dysplasia on Google. I'm seeking for people who's the same case as mine. January 18, 2016 in my 20weeks pregnancy I was diagnosed to have a multiple congenital anomaly specifically the case of TD. The doctor explained it to us that this is a very rare case that happens in every 1:20,000 live births and this is also fatal. We don't have history of this case in both of our families. This is actually our second baby. Our first baby was almost the same case with the second. Both diagnosed to have hypomineralized cranium, hypoplastic nasal bone, narrow thoracic cage, marked shortened and deformed long bones. It was heart breaking for I and my husband are expecting to have a healthy baby for the second time around. Since our country is a
    Catholic nation, our doctors suggest to let us treat my pregnancy as a normal one. I continue taking my vitamins and milk. Regular check up every month and almost every week. On my 28th week I was diagnosed to have a gestational diabetes which lead us to a more careful diet. Hoping and praying for miracle, we continue treat my pregnancy as healthy as we can. March 17, 2016 is my follow up with the OB. Same day the doctor said that they cannot appreciate the heartbeat of my baby and we need to have a pelvic ultrasound to check it more accurately. My heart is beating so fast, acting as strong as I can. In that moment my husband is working and I don't want to give him such news. He is praying for a miracle for our baby and I don't want to broke his heart. Preparing my self for the worst case scenario, I call my husband and told him to went in the hospital as soon as he can. We prayed together that God will give us strength and never lose our faith. March 18, 2016 after almost 13hours of labor at 9:50 am I normally deliver to a baby girl. She's 30 weeks and 2 days old. Stillbirth. That day is the most quite time of our life. Throwing back all the Happy memories in my entire pregnancy in my mind. I still thank God for I am safe and baby is back our heavenly Father. We buried our little angel's body last March 20, 2016. In my recovery stage, I'm still praying and hoping to find help for we still wanted to have a baby that will complete us. In reading your blog, I have so much questions if we can still conceive another healthy baby for the third time. In our country, health is being prioritize by the government but in such rare cases we don't know if they have researches or organization that will going to help us. We hope that this message will reach you. Thank you!
    angelynalbay@yahoo.com

    ReplyDelete
  57. Good day!

    My name is Angelyn Albay and I'm from the Philippines. I have read several of your blogs regarding thanatophoric skeletal dysplasia on Google. I'm seeking for people who's the same case as mine. January 18, 2016 in my 20weeks pregnancy I was diagnosed to have a multiple congenital anomaly specifically the case of TD. The doctor explained it to us that this is a very rare case that happens in every 1:20,000 live births and this is also fatal. We don't have history of this case in both of our families. This is actually our second baby. Our first baby was almost the same case with the second. Both diagnosed to have hypomineralized cranium, hypoplastic nasal bone, narrow thoracic cage, marked shortened and deformed long bones. It was heart breaking for I and my husband are expecting to have a healthy baby for the second time around. Since our country is a
    Catholic nation, our doctors suggest to let us treat my pregnancy as a normal one. I continue taking my vitamins and milk. Regular check up every month and almost every week. On my 28th week I was diagnosed to have a gestational diabetes which lead us to a more careful diet. Hoping and praying for miracle, we continue treat my pregnancy as healthy as we can. March 17, 2016 is my follow up with the OB. Same day the doctor said that they cannot appreciate the heartbeat of my baby and we need to have a pelvic ultrasound to check it more accurately. My heart is beating so fast, acting as strong as I can. In that moment my husband is working and I don't want to give him such news. He is praying for a miracle for our baby and I don't want to broke his heart. Preparing my self for the worst case scenario, I call my husband and told him to went in the hospital as soon as he can. We prayed together that God will give us strength and never lose our faith. March 18, 2016 after almost 13hours of labor at 9:50 am I normally deliver to a baby girl. She's 30 weeks and 2 days old. Stillbirth. That day is the most quite time of our life. Throwing back all the Happy memories in my entire pregnancy in my mind. I still thank God for I am safe and baby is back our heavenly Father. We buried our little angel's body last March 20, 2016. In my recovery stage, I'm still praying and hoping to find help for we still wanted to have a baby that will complete us. In reading your blog, I have so much questions if we can still conceive another healthy baby for the third time. In our country, health is being prioritize by the government but in such rare cases we don't know if they have researches or organization that will going to help us. We hope that this message will reach you. Thank you!
    angelynalbay@yahoo.com

    ReplyDelete
  58. Heidi,
    We had a son born November 19th, 1997 with TD1. As with most others he was diagnosed at 24 weeks through ultrasound. Doctors immediately sent us for a consult to help us decide on a "plan for the pregnancy". We are devout Christians and there was no way that I could terminate the pregnancy and am so glad that we did not. I carried him to 39 weeks when I was induced at Baptist Hospital in Memphis, TN. Our beautiful baby boy was born early on November 19th and we took him home two days later. All of our family gathered around us and we were able to love our baby boy until around 10am on November 24th. He was a little over 5 days old. It was definitely worth it! We had a daughter who was three at the time and went on to have a healthy son 2 years later. It was definitely the hardest thing we have ever faced, but we have so many precious memories!

    ReplyDelete

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