Showing posts with label lethal skeletal dysplasia. Show all posts
Showing posts with label lethal skeletal dysplasia. Show all posts

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.

Sunday, February 6, 2011

Love Lives Here


 "In our life there is a single color,
as on an artist's palette,
 which provides the meaning of life and art.
It is the color of love."
-Marc Chagall

If you recall, my friend, Mattie, invited a few of us to blog about love this month.   Her blog, Beauty Will Rise, is where you can learn about her triumphs and trials through the loss of her precious darlings, Shyla Joy and Jakin. 

Today is my turn to write a bit about love for the project called What Love Really Means.  Follow the button on the sidebar to read more from some amazing bloggers.  I am thoroughly enjoying them myself the past few days and completely honored that she asked me to join in!!

LOVE LIVES HERE

If you haven't noticed, when I set up this blog, my description was and still is "A place to incorporate my love...My love for my children.  My love for my family.  My love for crafts.  My love for life!!!" 

 So, I find it very fitting to finally write about my love!

 
"Love is coming face to face with the knowledge
 that you've found the best friend you'll ever have in this world"
-Lucy Murray

18 years ago, I was a mere 17 years old when I met my husband.  He helped me move into my college dorm.  14 years ago, we married shortly after I graduated from nursing school.  I am flabbergasted how many times we have moved, the amount of changes in our lives that have occurred, and the blessings we have been given along the way.  We both have had the opportunity to grow in our careers, our hobbies, and our spirituality.  I have had the honor of staying home for many years.  I have been working part-time as the clinic nurse at my boys' school...a dream come true.  

 We have three AMAZING boys that we can't imagine life without. 



"Now I know what love is"
  -Virgil

Even with our normal lives, stressful times, we had no idea how one small little bundle would rock our world a little over a year ago.  We found out that our daughter, at 18wk gestation, had a fatal condition.  We were encouraged/instructed that early termination was the best idea. 
 Our own hearts guided us differently.  We decided to carry her as long as we could. 

Jamie Lynn arrived and our life has never been the same.



"You will find as you look back upon your life
that the moments when you have truly lived
are the moments when you have done things in the spirit of love."
-Henry Drummond

I often say that the day she was born, you could feel the bubble of love in that room.  A bubble of peace and tranquility.  My mom comments that God was in that bubble with us. I don't think she is far off.  The world around us continued, but we stopped.  We stopped to be with her.  Our boys were there to see their sister alive and then silently drift away from us.  My husband and I turned and clung to each other in our grief.
   I witnessed the day that my boys' hearts were first broken. I pray that they never have them shattered and splintered like that ever again.
  I know that in that room, we realized how precious each of us are to each other. 

  I would never want that taken away from any of us.



"Love is love's reward" 
 -John Dryden

And I know that through our love for her, our lovely Butterfly.....we could only see the arrival of our new bundle "Baby Button" in a mere week and a half as such a precious gift from above.  


"Love has nothing to do with what you are expecting to get
-only with what you are expecting to give-
which is everything."
-Katharine Hepburn

After she was gone, I could only continue to put my love in my sewing and crafting. Love into being with my family.  Love into taking care of my boys.
 Really, love into everything that I do. 
 I try to honor the fact that God gave me the gift of my husband. He gave me the gift of my boys.  He gave me a gift of another baby.  He gave me the gift to create. AND He gave me the gift of Jamie.

 Instead of wallowing in grief, I can use her life as inspiration for my life.  Inspiration for my personal charity for other baby loss mommas. 
I can share my journey with other moms that are facing grief, loss, and pain.


I can "do" what she never can.

Because I love her that much...

Friday, December 25, 2009

Christmas Letter 2009

Dear Family and Friends,
I will start off saying that this year’s letter might be a bit different for us, so please hang in there through the end! 
 We announced to the boys In March that the arrival of a baby brother or sister was due November 13th.   They could not contain their excitement!  To be big brothers…what a boon!  They debated about whether it would be a boy or girl.  They argued where he or she would sleep.  They guessed at different names at the dinner table.  They debated whether it should be a “J” name.  They battled with us constantly to find out what sex we were having, even though I stubbornly refused to find out.  The dust settled when the school year ended, and the family was excited to enjoy the preparation of the nursery over the summer.   Oh the bliss!
On June 24th, our lives were forever changed.  We received the worst news a parent could ever imagine to hear.  At our routine ultrasound, they discovered there might be something seriously wrong with the baby.  After an amniocentesis, a fetal MRI, numerous high level ultrasounds, countless appointments with doctors and specialists, the verdict was given.  Our baby had a lethal skeletal dysplasia, or in layman’s terms, a fatal dwarfism.
 Despite recommendations, we decided to hold onto hope that he or she would have a “normal” dwarfism and give the baby the best possible chance and carry to term.  As the weeks went by, it became increasingly clear that our hello would also be our goodbye.  We instead changed our course to prepare for the worst and hope that we would at least not lose the baby before the delivery.  We gathered our courage and strength, and hoped that we could celebrate this child’s life, as short as it would probably be.
We planned all that we could to make sure we had a professional photographer, a special outfit, and a plan of care for comfort.  We also decided to wait for the surprise of boy or girl, since it would be one of the only things we could be excited about.  The baby went to most of big brother Butter's tennis matches.  There was wiggling and squirming while listening to Bean's guitar.  We endured the ferocious Houston heat while watching little, big brother Bunny's play in summer baseball tournaments.  Never was there a more active baby to remind us of its presence.  And every night, we settled to sleep after a nightly hug and kiss from Bunny and sometimes a lullaby from mommy. Despite the baby’s failing health and mine, we were able to make it a couple days shy of 36 weeks.  It was decided that a cesarean section would be the best way to deliver, due to both baby and my health complications.
On October 14th at 7:39am, Jamie Lynn entered this world with the tiniest cry. Like her brothers, she was nice and hefty at 5lbs, 4oz despite being four weeks early.  She was a mere 14.5 inches long from her perfect head to her perfect little toes.  With her too small limbs, and chest too tiny to survive this world long, Daddy quickly baptized her with the healing waters from Lourdes, France gifted to us by Father Drew.  After a short snuggle with me, he swept her away to be introduced to her big brothers.  A short time later, which felt like an eternity, we were all reunited as a family.  We were able to dress her in clothes washed and smelling like home.  We exclaimed over her shocking full head of the whitest blonde hair.  The boys declared her “cute”.  We adored her tiny hands and her, oh so perfect, feet.  Aaron was enthralled with his sweet baby girl. 
We were together as a family, as she drifted away, her perfect little footprints etched on our hearts forever at 8:54am.
Her immediate family arrived to celebrate her life at a memorial Funeral Mass on November 14th.  With Father D__ presiding, Mary T__ singing solo, and family gathered round, we said our final goodbyes and wished her well on her journey.  As Father D___ said during his homily, if we had opened the funeral to all family and friends, it would be a packed house indeed.  He couldn’t have been further from the truth.
And this brings me to the conclusion of our letter.   It has always been clear to us in the past, but more so now, that we are loved by the outpouring of prayers, thoughts, and letters from so many near and afar.  We are heartily thankful to all those who made donations to the Now I Lay Me Down To Sleep organization that provided us with the most beautiful photos of her.  To those who are just getting this news, we apologize.  This has been the most difficult burden to bear, and even more painful to share.  I apologize for not delivering a more traditional G_ Family Christmas Letter.   However, to not tell Jamie Lynn’s story, would be to dishonor her life and her memory.
For our family, the year of 2009 belongs to Jamie.  And always will….
Mommy, Daddy, Butter, Bean, and Button

"An Angel in the Book of Life Wrote Down our Baby's Birth,
And Whispered as She Closed the Book,
Too Beautiful for Earth."