My Babygirl's Diagnosis

So, here I am at the Ronald house with my sister and Chase and Mike's back and forth between Salt Lake and Castle Dale for work. When he was with me, we didn't even know what to say to each other. We didn't have any consoling words, or even anything to talk about to distract ourselves. We were in a blur, and the world just kept on turning. 


I'm still not exactly sure if everything that happened is in the right order of events, probably not, but it's as close as I can come-


They knew they needed to do surgery on Emmry for her omphalocele- An omphalocele is a birth defect known as a ventral wall defect, which involves the abdominal (belly) area of the fetus. Omphalocele causes the abdominal organs to herniate (protrude) into the base of the umbilical cord. The diagnosis of omphalocele is usually made by ultrasound, in many cases following an elevated second trimester maternal serum alpha-fetoprotein test. With omphalocele, the size of the herniation can vary from small (containing only a portion of the small intestine) to very large (containing most of the abdominal organs). A ”giant omphalocele: is seen in approximately 1 in 10,000 births and occurs when the majority of the liver protrudes into the umbilical cord. Herniation of the fetal liver is frequently associated with a small abdominal size and pulmonary hypoplasia (small lungs), two factors that can complicate the postnatal (after delivery) course.Fetuses with omphalocele are at an increased risk for other birth defects, such as cardiac or neural tube defects, intestinal malrotation and anomalies involving the urinary system. Those with small omphaloceles, which occur in 1 out of 5,000 births, are also at an increased risk for chromosome anomalies, such as trisomy 18. Therefore, amniocentesis or another means of fetal karyotyping is often recommended. In addition, omphalocele can be a part of several syndromes such as Beckwith-Wiedeman syndrome or Pentalogy of Cantrell. The prognosis largely depends upon the size of the herniation and the presence or absence of other birth defects.


So basically she didn't have a belly button and some of her intestines were hanging outside her belly, you could see straight into her stomach. They needed to repair this in order for her to feed normally, but the issue was that she wasn't stable to undergo surgery because her heart. Finally after about 4 days in the hospital on straight tubes pumping lipids into her, she was stable enough to undergo sedation for surgery. The 20th of September her omphalocele was repaired and they tried to form a belly button for her with the extra skin. She remained on a respirator because she was knocked out for a few days from the sedation medicine. As soon as she woke up she pulled the respirator out, but wasn't breathing on her own, so they had to reinsert it. She did this three times, by the third time she was able to breath on her own so they left it out! 


She didn't barely wake for days, and looked like a vegetable just lying there. I felt so so bad for her and I wanted to take all her pain away, but I couldn't. Mike and I tried distracting our selves from her bedside while she looked like this.


We were told that her results should be in for her karotype test and we should be meeting with the geneticist, we went to the hospital that morning with an open mind and stop in to see Emmry before our meeting, gave her our love and talked to her primary nurse Phyllis, she whispered in my ear that the results were looking positive and to make sure I was strong and be prepared. The geneticist was running late so Phyllis brought us to a parent lunch in the conference room for other parents with NICU babies. She left us and told us she'd be back to get us when the Dr. had arrived. They had lunch for us and also a speaker who had a baby with a syndrome that formerly stayed in the same hospital, she showed us pictures and shared her story with us, it was heart warming and I cried like a baby looking at the struggle he went through, he needed a heart transplant and received one from a little baby who had died in a car accident, as well as his sister died, and mother was suffering brain and paralyzing injuries. The father of the baby that had passed away in the accident still connects with this family and calls this little boy with this syndrome like his own. It was so touching. 


Right when her story was finishing and it was time for the new speaker Phyllis showed up at the door to get us. I can clearly remember my stomach twisting in knots and it felt as if the hallway was closing in on me. We shook the geneticist's hand and her assistant's and followed her to a private conference room. We sat down, she handed us a box of kleenex's, a hand book and gave us the news. The doctor was very quiet, and slow at explaining. 


Emmry has been diagnosed with Turner Syndrome. TS is a variable condition and every girl and woman with TS is unique and no generalization will apply to everyone, no matter how accurate it is for the group.  Turner syndrome is a sex chromosome abnormality affecting 3% of all female conceptions. Only 1 in 1000 embryos with 45x survive to term 15% of all spontaneous abortions are because of TS. TS is caused by a complete or partial absence of the second sex chromosome.

Primary characteristics of Turner syndrome

Short Stature 
The most common feature of Turner syndrome is short stature. The average height of an adult TS woman who has not received human growth hormone treatment is 4’8”. Individuals tend to be a little shorter at birth, averaging 18.5” compared to an average of 20” for all girls. Growth failure continues after birth, and most girls with TS fall below the normal female growth curve for height during early childhood. TS girls who are not treated with hormone replacement usually do not have a pubertal growth spurt; many will continue to grow at a slow rate until they are in their twenties. Many girls who undergo growth hormone treatment have been able to achieve adult height within the lower range of normal.

Premature Ovarian Failure

Most (90%) TS individuals will experience early ovarian failure. In the general population, the ovaries produce eggs and hormones necessary for the development of secondary sexual characteristics. Estrogen replacement therapy is necessary for breast development, feminine body contours, menstruation and proper bone development. About a third of TS individuals will show some signs of breast development without estrogen treatment; however, many will not complete puberty, and those that do often have premature ovarian failure. Therefore, the majority of individuals will require estrogen from puberty until the normal age of menopause. Fertility without assisted reproduction therapy is rare (less than 1%).

Intelligence
TS individuals are on average of normal overall intelligence with the same variance as the general population. They do, however, often have difficulty with spatial-temporal processing (imagining objects in relation to each other), nonverbal memory and attention. This may cause problems with math, sense of direction, manual dexterity and social skills. New and better ways to compensate for these problems, which currently fall under the general category of nonverbal learning disabilities, are being researched.

Physical Features that may be associated with TS
·        Narrow, high-arched palate (roof of the mouth)
·        Retrognathia (receding lower jaw)
·        Low-set ears
·        Low hairline (the hair on the neck is closer to the shoulders)
·        Webbed neck (excess or stretched skin)
·        Slight droop to eyes
·        Strabismus (lazy eye)
·        Broad chest
·        Cubitus valgus (arms that turn out slightly at the elbows)
·        Scoliosis (curvature of the spine)
·        Flat feet
·        Small, narrow fingernails and toenails that turn up (usually if lymphedema was present at birth)
·        Short fourth metacarpals (the ends of these bones form the knuckles)
·        Edema (swelling or puffiness) of hands and feet; especially at birth

What are the associated risks with Turner syndrome? 
Several medical problems occur more frequently in individuals with Turner syndrome than in the general population. It is important that TS individuals are screened regularly to see if any of these problems exist. Most of these conditions can be managed successfully with good medical care.

Heart

Some form of cardiac abnormality occurs in approximately one-third of TS patients. Problems are primarily left-sided and may include:
·         Coarctation (narrowing) of the aorta and bicuspid aortic valve (a valve with two leaflets instead of the usual three).
·         TS individuals are also at higher risk for hypertension or high blood pressure.
·         TS patients should receive an echocardiogram or MRI to evaluate the heart at the time of diagnosis regardless of age and have their heart re-evaluated periodically for aortic root enlargement.
·         All individuals with TS should be aware of the symptoms of dissection of the aorta, an uncommon but life-threatening complication.
hese include sudden, severe, sharp, stabbing, tearing, or ripping chest pain, intense anxiety, rapid pulse, profuse sweating, nausea and vomiting, dizziness, fainting or shortness of breath.

Kidney

Thirty percent of TS individuals will have kidney abnormalities. Many of the abnormalities do not cause any medical problems; however, some may result in urinary tract infections and an increased risk of hypertension. It is recommended that TS individuals receive a renal ultrasound examination at the time of diagnosis.

Thyroid

Hypothyroidism (low level of thyroid hormone) caused by autoimmune thyroiditis (inflammation of thyroid gland) occurs frequently in individuals with TS. It can be diagnosed with a blood test and is easily treated with thyroid hormone.

Ears

Otitis media (ear infection) is extremely common in TS girls particularly in infancy and early childhood. Aggressive treatment of infections is appropriate. The majority (50-90%) of TS women will also develop early sensorineural (nerve) hearing loss and may require hearing aids earlier than the general population.

Celiac Disease

Girls and women with Turner syndrome are at higher risk for developing celiac disease, the body develops a toxic reaction to gluten, than the rest of the population.

This is a portion of the general information of TS! 

Emmry will undergo lifelong consultations from many doctors, and because there's no cure for this- she will just have to undergo the issues day to day. Most doctors and the general public are not educated on this syndrome and mistreat it, overlook or misdiagnosis issues due to TS. Because of this Emmry has many different doctors such as a cardiologist, endocrinologist  pediatrician, ENT, audiologist, surgeons, optometrist, physical therapist and the support of her family. This syndrome affects every baby differntly some suffer just a few effects from it while others the more serious complications. Unfortunately Emmry is the slim 5% that has the severe effects of her heart as well as;

• short stature
• loss of hearing in one side
• lazy eyes, crossing eyes
• webbed neck
• nail dysplasia
• high palate
• short fourth metacarpal
• spaced nipples
• horse shoe shaped kidneys
• unable to reproduce
• dropped ears
• elevated liver enymes
• Heart pda/coaractation
• weight issues
• feeding/sucking problems
• hypertension of upper and lower extermities
• edema of hands and feets
• missized arms and legs
• slow development

I know that seems like a long list of all the negatives, but believe me I have to check myself daily and make sure I'm prepared to handle any thing that comes my way- so I keep it REAL. I don't sugar coat it. It's not easy and I didn't ever imagine I'd be in this situation, but I wouldn't trade my baby for anything, I wouldn't want anything else to have been changed. Obviously God had a reason to bless us with her and I'm more than happy to call her my own. She may not look normal at times or even be accepted by society growing up, but I'm her mother and I plan to do anything in my power to love, protect and treat her as any one else that's "normal". 

I asked a lot of questions in between tears that day in the doctors office; here's a few:

What did we do to cause this? Absolutely nothing, it happens in fertilization when a sex chromosome doesn't carry over. Every "normal" person has 46 chromosomes during fertilization a baby gets 23 chromosomes from each parent-  Emmry only got 22 from one of us and 23 from the other, so she's missing her 2nd X Chromosome be a girl. She has all the girl parts, just won't hit puberty normally or grow breasts, and look more stalky, and shorter- she'll NEVER reproduce and lots of health issues will occur.

Will she think normally? Many TS girls learn normally but develop slowly in certain subjects such as math, but are more social (hence the butterfly symbol). Some are further behind, but each girl varies.

Yes, my daughter will look different, in fact she may even think differently- BUT she's here today, and most babies with TS don't even make it to the 40th week gestation either because miscarriage, abortion (they think it's just too difficult), or stillbirth. SHE'S HERE-SHE'S MY MIRACLE. She may not ever be able to walk, but I'll carry her every step of her life. Yes, I'll be driving to the doctors offices once a week maybe twice for the rest of her life, and  even flying to NC for testing to find a cure every 3/4 months, but there's a reason she's one of the few that survived, there's a reason she's mine. Every smile, coo and cuddle with her reminds me every day how precious life is, when I need to remember why I'm here I look at her. She's my beautiful butterfly!