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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