Tuesday, 10 March 2015

Our Little Kettle of Fish

Our little Gideon is a bundle of mystery.  The geneticist has ruled out quite a few syndromes but she has not been able to pin him down yet.  Some syndromes that he is being tested for have worse outcomes than others and it seems that new puzzle pieces keep popping up.

Here is a breakdown of the clues we have gathered:

Ears:   - Ear Pit
           - Low Set
           - Mixed Hearing Loss (moderate to severe)
           - Fluid in ears

Eyes:  - Recurring Cataracts
          - Micropthalmia

Mouth: - High Palate
            - Split Uvula
            - Dental abnormality?

Kidney: - Right Multicystic Dysplastic Kidney

Urinary Tract: - Natural Circumcision

Miscellaneous:  - Being tested for hormone imbalance and possible endocrinologist consult
                        - Upper limits of normal/high levels of calcium
                        - Large soft spot
                        - Weak suck and feeding difficulties
                        - Slow growth

Two very rare syndromes that are being discussed are BOR (Branchio-oto-renal) syndrome and BOF (Branchio-oculo-facial) syndrome.  Unfortunately the main gene mutation that causes BOR has been ruled out.  There are two minor genes that can causes BOR but unfortunately the lab that was testing for these doesn't do this any more.  We will have to wait another two months to get the results for the BOF syndrome.  These two syndromes do not usually involve any cognitive issues and are the preferred diagnosis.

The Plan:  Gideon saw the ENT last week and the Geneticist yesterday.  The ENT told us that Gideon will need surgery to take the fluid out of his ears.  This should help with his hearing loss but it will not give him perfect hearing.  Unfortunately our ENT is pregnant and will not be able to do the surgery before she goes on Mat leave.  This means that Gideon will be getting hearing aids in the mean time.  The Geneticist did some lab work yesterday to test his hormone levels, calcium levels and to test for other less positive syndromes.  (Sometimes it feels like we are playing pinata and just swinging a stick hoping to hit something)  She wants to do an MRI on his head and, depending on the hormone levels, possibly a referral to the endocrinologist.

So the waiting  continues...

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