Hello world! Our daughter Gracie has Classic Turner syndrome, which means that her second sex chromosome is completely missing where as a normal person’s second sex chromosome is complete. Mosaic Turner syndrome (TS) is a condition in which cells inside the same person have different chromosome packages. Mosaic TS can affect any cell in the body. Some cells have X chromosomes and some don’t. Every 3 out of every 10 girls with TS will have some form of Mosaic TS . A lot of Mosaic TS girls will tend to have fewer signs and health problems than those with Classic or typical Turners. However, no Turner girl is the same and the differences in each are unique and need to be treated as such.
Gracie has been affected by classic Turner syndrome in several different ways. While she was in my womb, the doctor’s told us she had a cystic hygroma on the back of her neck, which when it continued to grow larger, developed hydrops. Hydrops then surrounded Gracie’s heart and body. This is the reason the chances of survival are so slim for Turner babies, roughly 1-2% because those hydrops are what causes the babies heart to stop beating. Since Gracie endured the large cystic hygroma in the womb, she now has to live with extra skin around her neck that makes her neck look like it has folds and is stretchy looking. They call this a webbed neck. This can be taken care of with surgery, but not till she is a bit older.
Other aspects that affects Gracie today are low set ears, broad chest with widely spaced nipples, high, narrow roof of the mouth, fingernails and toenails that are narrow and turned upward, swelling of the hands and feet, slowed growth, low hairline at the back of the head, receding hairline at the back of the head and short fingers and toes. These are just her physical features that affect her. She also deals with internal issues. Those are cardiac defects, a dislocated hip(at birth), and a horseshoe shaped kidney, which means that they are fused together and they sit in the front of her body rather than in the back where they should be. Cognitively, Gracie is a very smart little girl. She surpasses a lot of her peers in reading and comprehension, however, in social situations, she sometimes cannot pick up the social cues appropriately. I believe as she gets older, this will become much better for her. Gracie seems to have an easier time speaking to adults about every subject on the planet, but when it comes to “getting to know someone,” she seems to have difficulty asking questions, knowing when to ask and when not to, things like that. Nonetheless, Gracie in my humble opinion, is thriving.
Wow, you know what? As I am writing this, it really brings into my view, a perspective of all the things Gracie has to deal with daily with this disease, and as I am researching again about Turner syndrome, I am reading all the things the internet tells me that is wrong with my Gracie, but all I can see in her, is complete perfection. I know others may see her differently, but I don’t see her any different, and I refuse to treat her like there is something wrong with her because there isn’t. My little girl lights up every room she ever walks through with her love for Jesus and her uplifting spirit! She makes my days of darkness come to light because all I have to do is look at her, and I am inspired by her strength, her beauty, and her kindness. God truly had his hand upon her always and I thank him for allowing me to become her mama. It is a privilege to be able to see her overcome so many challenges despite her physical and internal shortcomings. Gracie is a miracle, and even when the doctor’s told me she didn’t have long to survive, she kept fighting… that’s my girl!
I am so excited to share with you all those challenges she overcame during those early years. Looking back, she had all odds stacked up against her in every, single, way…but God! If only I had known Him then…how different my life would have looked.
Here is my journal entry from Gracie’s Caring Bridge Website one week after we found out we were having a baby with Turner syndrome.
August 13, 2013. Today I went in to only check to see if our baby girl had a heartbeat, however, the doctor asked if I wanted an ultrasound, and so I said of course I would like an ultrasound.
The news wasn’t good at all. The cystic hygroma had grown since last week from 7.3mm to 8.6mm and the fluid isn’t just contained around the belly area anymore, it has now started to move around the heart area. I also found out today that our baby is missing an entire X chromosome, which means, that it is non-mosaic, which means, these babies generally don’t make it through. Mosaic turner syndrome means that only partial X chromosome is missing of the two and that there are normal cells there to help baby survive in pregnancy and after birth. These girls because there are normal cells present, tend to have a way better chance for survival.
There have been cases known where the cystic hygroma does start to shrink and the hydrops do decrease, however, with the 1% survival rate we’ve been given, her chances are very slim now. When more fluid starts to build in other areas in baby, the doctors also at that point start to worry about the effects in may have on me.
I am saddened by the news and I feel so terrible for her and what she is going through right now. And I can’t do anything for her. I just feel helpless. I have carried you this long, I do love you, and I will still be praying for you.
My next ultrasound will be Monday, August 19, 2013. Tomorrow we will be at 13 weeks.
1 Chronicles 16:34
O give thanks unto the Lord; for he is good; for his mercy endureth for ever.
Many Blessings,
Gina
Sources:
https://www.massgeneral.org/children/turner-syndrome/the-basics-about-mosaic-turner-syndrome
