DiGeorge Syndrome (Ethan)

So much has been going on in the last few months and my blog has not been cooperating with me.
In July, Ethan got really sick and we had to take him to Primary Childrens Hospital for a few days. We never  found out why his white blood cell count and heart rate were so high. But what we did find out was that he has a genetic disorder called DiGeorge Syndrome. We were shocked, heart broken, scared, and didnt' know what to think.
We had so much support from family members and ward members and friends. Since then, we have taken him to specialists to find out exactly what was wrong with him and how this disorder would affect him during his life.

A little background:

It is a deletion in the 22nd chromosome.

The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms may include birth defects such as congenital heart disease, defects in the palate, most commonly related to neuromuscular problems with closure (velo-pharyngeal insufficiency), learning disabilities, mild differences in facial features, and recurrent infections. Infections are common in children due to problems with the immune system's T-cell mediated response that in some patients is due to an absent or hypoplastic thymus. 22q11.2 deletion syndrome may be first spotted when an affected newborn has heart defects or convulsions from hypocalcemia due to malfunctioning parathyroid glands and low levels of parathyroid hormone (parathormone). Affected individuals may also have any other kind of birth defect including kidney abnormalities and significant feeding difficulties as babies. Disorders such as hypothyroidism and hypoparathyroidism or thrombocytopenia (low platelet levels), and psychiatric illnesses are common late-occurring features.^[8] Microdeletions in chromosomal region 22q11.2 are associated with a 20 to 30-fold increased risk of schizophrenia.^[9]



After reading all these details and symptoms, my greatest fears were his heart and kidneys. Everything else, we can work with.
So the appointments began every week.
We are so happy to see that his heart and kidneys are just fine. His hearing is great. The only issues we have run into is he has a submucus pallet. He will go back and meet with the cranial team in November and they will plan a surgery.
His cute ears that stick out (my favorite) can be pinned back at age 5 if we want. He is just starting to walk, but his progress is great. We are working on his speech with him, but will have to wait till after his surgery for more progress.
He is so loving, no boundaries with strangers, and loves giving hugs and kisses.
We are so blessed to have sweet Ethan in our family and are so grateful for doctors, spcialists (DDI) who come to our home each week and work with him. I love the programs that are avaiable (HOPE KIDS) where we can still have happiness among all the driving to appointments and harships that Ethan may face as he gets older (possibilities of deppresion, bipolar, etc.).

Our Heavenly Father has entrusted us with this sweet boy and we are eternally grateful to Him for letting us have him as part of our family.