Showing posts with label #TurnerSyndromeAwareness. Show all posts
Showing posts with label #TurnerSyndromeAwareness. Show all posts

Monday, April 17, 2017

My Baby Butterfly

My Baby Butterfly
Written By Renee Arbia

Last week we had a big thunder storm. Nothing that we are not used to, you see we live on the southern coast where we frequently get storms. There is the spring storm season, and hurricane season. The spring season is light rain and thunderstorms. In fact, I actually love this season. During storms, I love to open the window, and hear the rain on the porch. You hear it on the roof, on the chairs, and on the concrete. When the winds get heavy, I eventually have to shut the window, to keep the rain from getting in. 

We have been excited to get out more for family fun, now that Imogen is more alert. She has an excitement for life that is so amazing to watch. She loves to laugh and does so often. She is always smiling, so much so that we actually call her “smiles”. She adores her big brother, and Xavier adores her. I think my favorite thing in the world is watching them play together. They laugh at the same things. They love to be together, and they even get on each others nerves. They are buddies for life. I can already see them whispering and plotting together how to over throw us.

It is always challenging traveling with two kids. Trying to figure out who to strap in first, who to get out last, it can be confusing. Every time we go out it takes us a very long time to just “go”. Inevitably, someone still has to potty or a diaper needs to be changed, or it’s time to nurse again. We are just starting to get our time down and be able to take advantage of the beautiful weather and go on adventures outside. Imogen has such an amazing and infectious personality. She is incredibly rambunctious and does not like to sit still very long. She has figured out how to move and she apparently has places to go. Her Shakespearean name is very fitting to her seeing as “Though she be but little, she is fierce.” I have always known that she is a warrior. Her strength and determination inspire me.

We have received such a wonderful response from Imogen’s special Against All Odds. If you have not seen it yet here is the link. Against All Odds: An Inspiring Story of Hope and video

here is the link to Imogen’s Birth Story. Many of you have sent us amazing messages of love and light, and we could not be more thankful. This whole experience has been very amazing, and humbling to us. Imogen’s pregnancy was a big storm for our little family to go through. These past nine months with her in our arms every day, although tough and challenging, have only been a beautiful rainy season. We decided to do the news special for Turner Syndrome Awareness Month, it also aired on World Rare Disease Day. Turner Syndrome is part of the Rare Disease community.

When Imogen was diagnosed with Turner Syndrome I was only 18 weeks pregnant. We kept it a secret for many reasons, one of which was because I was afraid of labeling her, especially before she was even born. I could have used my blog platform to be an early advocate for Turner Syndrome, but I did not. When she was born we could not help ourselves from announcing our little miracle. In a time of negativity, sharing our story about our sweet miracle seemed the right thing to do. I wrote her birth story when I felt I had recovered my mom brain enough to write it. We then decided to do the news segment to help her future Turner Syndrome Community.

It is a hard decision when your child has special needs how to decide what to say. Do you stay quiet about your child’s diagnosis in hopes that they will blend in with the world? Or do you let them know all about their diagnosis and let it be a big part of who they are? Seems to me there are two very different decisions. I do not think either is right or wrong. I think each child is different, and their decision should be distinctly about them. We decided to tell because we feel we are advocating for her and being her voice. We are confident she wants to celebrate her birth. She wants to see and do so much, and she is such a strong personality, that we know that this little butterfly not only wants to find her other butterfly sisters, but she wants to help them out in any way she can so that they can have the most amazing journey together.

Butterflies have always been our family symbol of love. Every time we see a butterfly we are always saying it is a sign of love. When we learned of Imogen’s diagnosis and we searched Turner Syndrome, we immediately noticed that their symbol was a butterfly. We knew at that moment that we were blessed with a butterfly in our little family!

Since our story has been so public we have had the honor of meeting so many butterflies from right in our own town to even other countries. We really appreciate connecting with everyone and hearing your stories. We hope to be able to use our platform for the good and to help advocate for Turner Syndrome and the Rare Disease communities in any way we can. 

These past nine months with Imogen have taught us so many things but especially that the strong can weather the tougher elements and can see a more beautiful place.
We hope our story will inspire others to share their stories of love!

#TurnerSyndromeAwareness, #TSAwareness, #VIBImogen, #ShareLove, #Rare, #NextGenerationSAHMBlog

Tuesday, October 4, 2016

Believing In Miracles

Believing In Miracles
Written By Renee Arbia

Imogen is now almost three months old. Many have been asking us how she is doing, what is next for her and what has been going on? Turner Syndrome is a fairly complex syndrome in the fact that no two girls with it are the same. 

In girls with Turner Syndrome they are born with only one X. Boys are always XY and Girls are XX,  but with Turner Syndrome the person is missing one X. That is why around 99% of people with Turner Syndrome are girls. 

Due to lacking chromosomes girls with Turners Syndrome can have a host of medical issues, but thankfully nothing that modern medicine cannot fix. However, each girl is different because it is a spectrum disorder. Most of the time Turner Syndrome is not even discovered in girls until they reach puberty and they do not ovulate, it is rare to be diagnosed earlier than age nine in the Turner Syndrome Community.

As I wrote in Imogen’s Birth Story giving birth to a Turner Syndrome baby is very heart wrenching. 98% of baby girls with Turner Syndrome do not make it to birth. Imogen is part of that 2% that survived the pregnancy. She is a rare butterfly in the medical community and in our hearts.

Imogen has a form of Turner Syndrome called non-mosaicism which means every cell in her body is missing a chromosome. In mosaicism only some cells are missing a chromosome and some are not. However, we are told that the type of Turners she has is very textbook. Yet, Turner Syndrome is a spectrum disorder. So there is a big sliding scale as to what to expect. Basically we were literally handed a sheet that tells us at what age she needs certain body parts and systems checked to make sure she is not prone to any issues.

When Imogen was born she had a host of ultrasounds and blood drawn for analysis. We were scheduled to meet with all of her specialists to get an initial rundown of any medical problems we may be facing with her. Right now Imogen has a regular Pediatrician, Endocrinologist, Cardiologist and Urologist. Turner Syndrome girls are at very high risk for problems with their heart and kidneys. Our pediatrician does what he does for Xavier with regular check ups and just keeps tabs on her progress with all of the specialists. Imogen’s Endocrinologist is a big part of her life. She will be responsible for watching all of her levels, and for helping her with growth hormones and hormone therapy. She also helped us to find out her exact type of chromosomal abnormality and informed us all about Turner Syndrome, support groups, summer camps, etc.

Imogen received two more ultrasounds of her heart and kidneys since she has been born. Both of those ultrasounds came back seeing all of her organs working the way they should. We are proud to say that we are specialist doctor visit free for six months which is super big for us to celebrate!

To say that our girl is a miracle is not even half of the amazing spirit she is. When we go to doctor’s appointments we get a lot of doctors, interns and students who want to see the Turner Syndrome baby who defeated the odds against her and is extremely healthy. I was annoyed at the medical community when I was pregnant because they would warn me of the many things that could be wrong with my little girl. I knew in my heart that she was strong and healthy; I just had no way to prove it. Now, she is here and she is proving everyday that miracles exist because she is strong and healthy. For once the medical community is marveling at what I know is a girl made strong and healthy by faith.

We had faith the moment we saw our little girl on the ultra sound, no matter what the doctors told us. We had faith in the weeks of pregnancy that doctors gave us worrisome news. We had faith when we had to have an emergency cesarean due to her heart rate dropping. We had faith when they added a spine ultrasound because they were afraid there was an issue. We had faith when they made doctor appointments with specialist after specialist. We had faith when we were told that although our baby girl has a very rare chromosomal syndrome, she is incredibly strong and healthy.

Our little family has made it through quite a big storm. Right now we are on the other side where the sun is shining and a rainbow has come out. We are spending the next few months celebrating our strong and healthy baby girl and our new family of four!

#NextGenerationSAHMBlog, #inspirational, #parenting, #TurnerSyndrome, #TurnerSyndromeAwareness, #newbornwithTurnerSyndrome, #specialneedsparenting, #Imogen


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