My Mess of a Blog!

This is a shout out to my blog following friends!

I realize more and more that my blog doesn't have a true "fit".  If you read my heading, it says that this blog incorporates my love...for TOO many things!

I know that I have loss followers who are wondering, what the heck are all the craft posts?

I know that I have craft/sewing follower who are wondering, what the heck is with all the grief/loss posts?

The answer is this.

I would love to compartmentalize all of my posts.  I would love to have separate blogs.  

But the reality of it is this.  I love to sew.  I love to craft.  I love my kids.  And I have lost a child.  All of these things make me who I am am.   And if you are having trouble understanding this maybe this post would best describe what I am trying to say.

Therefore, in a way, this post is to let you all know that I understand that my blog is a mess.  Honestly, my life is messy.  I cannot compartmentalize all my parts.  They are all with me at all times.  I sit at my sewing machine and see this. 

  

In short, I have thought of changing my blog, but I can't bear to.  I would then have to separate these things in my life.    In plain speak, I DON'T WANT TO.

So thank you for following me.  Please be patient with me.  I honestly don't know how else to do it.

If you have suggestions, I will gladly listen.  I need all the help I can get!

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.

• Gene Review: Thanatophoric Dysplasia
• Gene Tests: Thanatophoric Dysplasia

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.

• MedlinePlus - Health information (2 links)
• Educational resources - Information pages (3 links)
• Patient support - For patients and families (4 links)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

• Gene Reviews- Clinical summary
• Gene Tests- DNA tests ordered by healthcare professionals
• ClinicalTrials.gov - Linking patients to medical research
• PubMed- Recent literature
• OMIM - Genetic disorder catalog (2 links)

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?

The Handbook provides basic information about genetics in clear language.

• What does it mean if a disorder seems to run in my family?
• What are the different ways in which a genetic condition can be inherited?
• If a genetic disorder runs in my family, what are the chances that my children will have the condition?
• Why are some genetic conditions more common in particular ethnic groups?

These links provide additional genetics resources that may be useful.

• Genetics and health
• Resources for Patients and Families
• Resources for Health Professionals

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.

Daddy's Little Girl

" Here she is

All peaches and cream

Our sweet little girl,

Our long awaited dream."

-Author Unknown

My dear hubby has been much on my mind lately.  I left him last weekend to go on a scrapbook retreat.   I honestly didn't hesitate because he has always taken care of the boys without any difficulty. 

I also know that he is quite capable of taking care of a baby.  He had to take care of our two older boys when they were babies when I used to work evening and night shifts as a young nurse in the Army. 

What is on my mind is that I still haven't asked him is what he thinks of having another baby.  Let alone what he thinks about having another boy.  What I haven't asked him is how he is feeling?  I haven't even asked him about how his grief is with this arrival of such a bundle of joy.  Least of all, I haven't asked him if having another boy makes him miss his little girl all the more.  I can honestly say that it has.  I wish she was here.

 

But here is what I DO know.

I know that he lovingly tends to Jamie's tree. 

 I know that he is able to say her name without choking up.

  I know that he shares my blog with others. 

 I know that he is supportive of my blog, my online support group, and my craziness (like mailing my doppler to Canada yesterday to a CTT momma carrying a rainbow baby).

  I know that I sent him this link to an article that was brought to my attention on my online support group.  It is the story about three NCAA basketball coaches that all have a common bond.  The loss of their babies.  We are HUGE fans of college basketball (just ask my mom...I think she knows all the Big East teams after her visit)Dearest hubby immediately responded to my email.  He said that he had seen it featured on CBS sports during the tournament.  His quote "it was an unbelievable piece.  I forgot to tell you about it."

I wonder if he forgot to tell me because we don't discuss this issue outright, or if he really just forgot.

Why don't I ask?

I don't know.

 

The REAL Rainbow definition

"Rainbow Babies" is the understanding that the beauty of a rainbow does not negate the ravages of the storm. When a rainbow appears, it doesn't mean the storm never happened or that the family is not still dealing with its aftermath. What it means is that something beautiful and full of light has appeared in the midst of the darkness and clouds. Storm clouds may still hover but the rainbow provides a counterbalance of color, energy and hope. 
-source unknown

Why am I posting this definition once again?

  Because when dear hubby saw his sweet baby dressed in a Rainbow Heart onesie...he was thinking of this kind of Rainbow....

If you aren't sure what kind of flag it is, just google gay rainbow flag images.

Not only did I make a "FAIL" outfit (read details)

My rainbow heart (a foundation pieced heart which isn't worth taking a picture of...my zig-zag stitch looks HORRIBLE)

 and a baby hat (made it way too big at first, then when I fixed it...it looked HORRIBLE)

 with a rainbow pom-pom (cut up a rainbow ribbon and it just frizzed everywhere...it looked HORRIBLE!!!)

BUT I also....

made dear hubby go "hmmph" followed by sarcastic comments. 

Yup.  A fail.  In so many ways.

But I do hope he reads the definition so that he realizes that my intentions came from a good place. 

My execution?  Not so good!

Worn out shoes

"Between saying and doing,

many a pair of shoes is worn out."

-Proverb, Italian

Exactly one year ago, we went to the Carnival at the Livestock and Rodeo Show.  It is usually is quite a fun time, but last year, I left quite sad. See last year's post here.

This year,  I left laughing.  I did have a sad moment, but it very short because I just had to peek in my stroller and smile, thanks to sweet baby James.

Now to the shoe story.

Yesterday morning, I woke up and was excited because I was going to wear my brand new Old Navy shirt that I had bought on clearance for $6.49.  But, what was more exciting was that I finally had a blue shirt that matched a pair of shoes that I have had for a long time.  They have always been one of my favorite, but were very difficult to match up with outfits.  So I showed off my excitement to hubby and we were off to the Carnival!

We had to park far away and walk to the entrance.  We were laughing and having fun.  Then the "boys" peeled off to use the stairs to go buy tickets, James and I peeled the opposite direction to take the ramp.

When we reached the boys, I realized...I had a BIG problem. For some reason, my shoes felt like they were dragging onto my pants.  I looked down to roll up my jeans.  I found that the soles of my shoes were falling apart.   Picture styrofoam packing falling apart.

 Hubby started laughing hysterically, I am sure my face was bright red.

But in the spirit of the day, I decided to go ahead with the day, in the hopes we might see a booth selling flip-flops or boots in the vicinity.   Unfortunately, we never made it to that part of the carnival because the boys pooped out on us.  I definitely made my mark on the walkway. As the asphalt heated up, my shoes left trails behind me.  The once 4 inch heels, became what you see in the picture.  I literally felt the metal support under the one clang behind me. 

As we were heading back, the top of the left sandal started peeling off like this:

Within minutes, the top leather completely pulled away. 

I held the shoe in my hand in shock. NOW WHAT?!?!

Hubby had me throw them in the nearest trash.  I pulled my jeans as far under my foot as I could.  To protect and to hide the fact that I am NOT WEARING A SHOE!

  

I then tried to keep it hidden under the stroller to hide my foot.

When we finally got to the car....I could not stop laughing.

We had formula, water, bottles, diapers, and spare outfits for James. 

But who knew we should have had a spare pair of shoes for me!!!

Thank you God for giving me a moment to laugh. When I do, it reminds me not to mourn too much!!



One finger

"There is no surprise more magical than the surprise of being loved: It is God's finger on man's shoulder. "

-Charles Morgan

Or in my case......me wrapped around such a tiny little finger already!

I am excited to say that I have been able to do a bit of sewing and crafting.  Taking pictures of said items is a completely different story!

It seems that I am able to pull off things in what I call semi-complete tasks.

Like today.

  Dear hubby had his birthday.  I made a beautiful dinner of Ale-Braised Short Ribs with Egg Noodles and cornbread from scratch. (Note:  I do not make fancy dinners like this very often.  This is a very rare and special occasion)

  But he had to clean up the dishes!

He was bummed that he didn't get cupcakes.  Whoops!

But seriously...my birthday kind of stunk.  See post here.

At least he got dinner.............

My excuse for such poor wifely behavior...did you see those tiny fingers in the picture?  Not only am I wrapped around one....but all five....on each hand! 

He is sooooo worth it!

Angel of God

Angel of God, My Guardian Dear

to whom God's love commits me here.

Ever this day be at my side

to light, and guard and rule and guide.

Amen.

So I am going to lay it all out tonight.  Hope you are ready for it!!!

Last night, I was ANGRY.

I know that I am angry more and more every day because Jamie isn't here and James is.  It isn't that I don't love him....I SOOOO do.  But dammit, why couldn't I just have both of them.

I know I am angry because Dr. G said that my uterus was VERY thin.  Emphasis on VERY.  I wasn't "done" having babies.  Looks like the choice might be taken out of my hands.

I am angry because I wanted things to be perfect when James was born.  I wanted to just spend time with James ALL alone. I wanted to "room in" with him. He was one week and five days old when I finally had him all to myself.  It should have been the first night he was born.  Instead, I didn't even get to hold him until he was already one day old.  And even then, it was for the shortest bit of time.

 I was VERY angry at anyone and all on his third day in the NICU.  I was terrified that I was going to leave the hospital without a baby in my arms. I wanted the boys to see him while I was in the hospital, not the first day I came home. 

I am angry because I wanted to cry during those quiet times at night at the hospital.  I still haven't.  The sob is just balled up in my throat.  Waiting.....


BUT.......

God decided to nudge me.  Last night, after big brothers were tucked in and Daddy went to bed, I was alone.  Alone with James.  As he fell asleep in my arms, I realized that he was giggling in his sleep.   He was smiling.  I know, I know...babies don't smile, but he WAS!  He also has this amazing ability to play with his fingers.  We noticed it the very first night we saw him.   His hands extend out as if they are "petting" someone.  He touches us with the tips of his fingers instead of having the normal clenched newborn fists.  He loves to pull his blanket over his head.  He will fuss until his hands and arms are released from the confines of the swaddling blanket.   It looks like he is waving his arms and playing games with someone in his dreams.

Then it hit me.   Is he playing with his sister?  Is she watching over him?

When I went into the OR, I didn't have any jewelry on except for the heart shaped charm my dear friends gave me.  It has an angel cradling a baby in her arms.  It has Jamie Lynn's name engraved on the back.  It was blessed by Fr. Drew.  The nurse made me take it off, so I handed it to Aaron.  After they prepped me in the OR and he came in to sit with me, I felt something in my hand.  My darling husband placed that necklace in my hand.  And we prayed.  After the surger, I wore it the whole time I was in the hospital. And one of our favorite photos is this one: 

This photo was taken the very first time I got to hold him.  It was a very gratifying feeling to hold him right on my chest.  He became less fussy, opened his eyes, and his breathing slowed down to a normal rate.  My anxiety flittered away.  It felt so good to hold him.

Can you see the necklace?

I am more and more convinced that she is looking out for him.  As we play out the scenario that led to his platelet transfusion, I realize how perilous his situation would have been if he had not had trouble breathing in the OR.  He would not have been whisked to the NICU.  He would not have had his blood tested.   We would not have known that his platelets were so dangerously low.  I have to now believe that all of it happened for a reason.

I think he officially has his very own Guardian Angel.

And that balled up sob....tears of gratefulness flowed while I held my most precious boy in the wee hours of the night.  The ball is much smaller today.

But I am still waiting........