Friday, March 1, 2013

There is no such thing as a stupid question.

In honor of Rare Disease Day, I wanted to do a blog on all questions people may have about Wendy.  So here goes…

When did we find out Wendy was “sick”?

They first noticed abnormalities at my 22 week ultrasound. They found Choroid Plexus Cysts in Wendy’s brain. CPCs are a fairly common finding in pregnancies and usually disappear before the 3rd trimester, however we wanted to see a specialist in Nashville to make certain it wasn’t anything to worry about. At the appointment in Nashville, at 23 weeks, they said the CPCs were still present and she had fluid building around her heart. Those two things are usually markers for Down Syndrome (Trisomy 21)  or Edwards Syndrome (Trisomy 18). Trisomy 18 babies usually don’t make it to term and the rest usually don’t live past a year old. We decided to go ahead with the amniocentesis because we wanted Wendy to have the best care available to her when she was born. At 25 weeks we found out there was an issue with her 7th chromosome, but they were still doing further testing to find out what exactly was wrong. We didn’t get the full results until 31 weeks, after I was already in the hospital.

Why did my water break at 29 weeks?

Wendy wasn’t swallowing amniotic fluid like babies are supposed to, so I was producing more and more fluid and it had nowhere to go. Therefore when I ended up with enough fluid for triplets, my body couldn’t handle it anymore, so my water broke.

Was she a preemie?
Yes, she was born at 33 weeks and 6 days, however, being premature isn’t what caused her health problems. Her chromosome abnormalities did. And most likely, her chromosome abnormalities is why she was born so early.

Why did she have a colostomy?
Wendy was born with an imperforate anus, which means her bowels were a dead end. There was no anus at all. The first step to correct this is to place a colostomy. The second surgery was to make an anus. And finally, the third was to connect her bowels to her anus and remove the colostomy. The final surgery was done February 21, 2013.

What other health problems does Wendy have?
Other than the imperforate anus, she has intestinal malrotation, gastrointestinal reflux, mild kidney reflux, microcephaly, and feeding difficulties. She did have swollen kidneys and ASD (atrial septal defect, a heart defect) which both fixed themselves.

Why does she have a feeding tube?
Wendy has a feeding tube because she could never swallow formula in the hospital. They suspected aspiration, so she needed a swallow study before we could start therapy to teach her to eat. She had one at 4-5 months old, but was not able to take enough liquid for them to be sure if she was aspirating or not. She has another swallow study scheduled for March 20.

Will she ever eat by mouth?
Possibly. If she can pass the swallow study we will begin feeding therapy and we hope she will be able to learn to swallow and breathe at the same time. However, if she cannot pass the study, it would be unsafe for her to eat by mouth.

Does she have any siblings and do they have medical problems?
Wendy is an only child. She was our first and will most likely be our last. Wendy’s genetic mix up was a random occurrence (neither me nor my husband have genes like hers) and they said they couldn’t tell us if we decided to have another child if it would be like Wendy or not. However, my husband and I have decided Wendy needs my full attention, so it would be best if she was our only one.

Does she still have things that are undiagnosed?
Possibly. Right now, she doesn’t have any issues going on that aren’t diagnosed, but that doesn’t mean other things won’t come up in the future.

The biggest question people asked was, since she has a one of a kind anomaly, what will her future be like?
We’re not really sure. Doctors can’t tell us what to expect, so we just take things as we go. So far, Wendy has nothing life-threatening. Many children with a 7p22 deletion (which is just one of Wendy’s 4 genetic anomalies) die from a heart defect at a very young age. Wendy’s heart defect (ASD) fixed itself when she was a baby.

And finally, what worries me most about her future?
I honestly don’t have many worries. As long as she is living a good quality of life, I will be happy. My biggest hope is that we can spread awareness, so people are more informed about children like Wendy. If more people are informed, I feel like more people will accept these beautiful, unique children. I feel like Wendy was given to me for a reason and I plan on advocating for her and sharing her story with as many people as possible.

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