Lucia was born with several genetic markers which caused the NICU doctors to check her heart and kidneys for any obvious congenital disorders. so the days of testing began and we have yet to see them end. The beautiful thing is that at each test and each doctors’ appointment, no matter how scary the issues discussed, we always see the hand of God working miracles in Lucia’s life. I can’t help but believe that He responds to the prayers of our beloved family and beautiful friends. My hope is that by listing these out you will see His hand as well.
Here’s what Lucia has been diagnosed with so far (the following are all symptoms and not a final diagnosis of any disease or disorder).
– 2nd & 3rd toes webbed on each foot
– broad chest
– horseshoe kidney
– feeding difficulties
– failure to thrive
– slight malabsorption of fat
– low muscle tone (hypotonia)
– developmental delays
microcephaly – oh wait! this one had to be removed because of the dramatic growth of her brain this past month
Here’s the tests that she’s undergone in her short 7 months of life:
ultrasound of lucia’s heart – normal
ultrasound of lucia’s kidneys – normal
NICU x-ray of lucia’s lungs shows fluid; 2 days and 2 x-rays later – normal
lucia’s newborn screening comes back “inconclusive” for cystic fibrosis…
lucia’s genetic test for cystic fibrosis – negative
Lucia’s abdomen ultrasound – normal
Lucia’s upper GI study – shows reflux
Lucia’s swallow study – normal
Lucia’s GI blood work shows high potassium, calcium, phosphorous and high TSH…GI concerned about her pituitary gland so retests these levels – each one comes back normal
Basic chromosome testing – normal
So, as you can see – no official diagnosis yet! We are in the process of beginning a new round of tests. This time, Adam and I have decided to take our time with them. We will get them done, but not at the expense of having a normal, happy and fun-filled life as a family. We are in no rush!
– blood work checking for metabolic disorders (this is the test that strikes the most fear in my heart – these disorders can be very devastating)
– blood work (chromosome microarray testing) checking for micro-abnormalities in the DNA; would identify more rare syndromes than what a basic chromosome test can identify
– MRI of Lucia’s brain checking for genetic abnormalities
– pediatric ophthalmologist appointment to check Lucia’s optic nerve and something or other checking for genetic abnormalities pointing toward metabolic disorders
– meeting with pediatric surgeons to discuss surgery to place a g-tube instead of the ng tube Lucia has now. (this isn’t a test but something to keep in your prayers please)
We are continuing to ask God to heal each symptom that Lucia has just like He healed her diagnosis of microcephaly. We ask Him to continue to provide us with good news after every round of tests. And we ask Him to help us praise and trust Him in the peaks as well as the valleys.
I promise my next post will not be related to medical issues or birth dramas. 🙂 I just needed to write this all out if not for anyone else’s benefit then for my own as I process these past seven months and learn from what God is showing me. I soon hope to bring Mexico Mondays back as well as start Thankful Thursdays so stay tuned!