July 4th through July 11th

On Saturday July 11th, Austin was released from Riley and is now back at home!! Between our July 3rd update and July 7th, Austin had more tests and surgery as a result of some other findings.

Urinary Tract Infection
As noted in a prior update, Austin has been treated for an infection while he was in Riley. The doctors ran a few more tests to look at the overall physiology of his bladder and his tract to try and determine why had an infection. Some anomalies were discovered with the overall development of the physical shape and texture. Further appointments and tests will be administered in the future as an outpatient with urology to try to prevent any future infections or issues.

Bronchoscopy
On July 8th, the doctors attempted to perform a bronchoscopy, which is a procedure that looks at the airway, throat and lungs. Due to Austin's heavy breathing rate and heavy wheezing, the doctors wanted to see if this procedure would identify anything obstructing or preventing normal air flow. The procedure involves the use of a camera and a light that is inserted through the nose or mouth and looks at the throat, larynx, vocal cords and lungs.

As they conducted this procedure, it could not be complete due to an obstruction identified just above the vocal cords. Austins throat was partially webbed together that needed to be operated on. Although the webbing was not significant, it would have some effect on air flow. Early on the morning of July 9th, Austin had surgery to have the webbing cut and treated and the doctors were able to complete the bronchoscopy by looking further down Austins airway to the lungs. Outside of the webbing that was treated, the rest of his airway looked to be normal with the exception of some floppiness and softness of the throat tissue near the larynx. This is expected to get better in time, but will be monitored.

Austin's Home
We were very pleased to be able to bring our son home on July 11th. Austin is on a monitor at home that tracks his breathing and heart rate. This monitor is considered highly precautionary, but gives us a lot of piece of mind. Austin is now on approximately 7 new medications that are administered through his gastric feedings. We have multiple follow up appointments at Riley over the next couple months to ensure some of the findings identified this past couple weeks are appropriately monitored.

Since Austin's latest trip to Riley, we have noticed Austin appears to be smiling more and it is such a wonderful sight to see. We can only imagine he is much happier to be in the comfort of our home. We will start back up with his therapy appointment next week and hopefully will get back in a normal routine!!! Thanks for all the continuous thoughts and prayers and although Austin can't tell you, he really appreciates it!!

July 3 Update

The morning of July 3, the doctors extubated Austin from the ventilator. However, he really struggled with breathing due to swelling and suspected floppiness of his larynx and trachea (his throat and air pipe). They are administering IV steroids and aerosolized epinephrine (a vaporized steroid which is inhaled) to try to help with the swelling and allow his airway to open.

Late yesterday afternoon, Austin was still having difficulty. In order to avoid re-intubating, he has been placed in a tent with heliox (a helium-oxygen gas mixture; as helium is a smaller particle than oxygen, it assists in delivering air through the swollen area). He did well overnight and the plan is to wean him off the heliox throughout the day today. The doctors are predicting that if no other difficulties arise, we may be able to take Austin home as early as Monday.

Ear Tube Procedure Not Quite so Routine

Austin had his tube procedure as an outpatient the morning of June 30. During the procedure his CO2 levels were elevated so the surgery team had to intubate him. After they extubated Austin in the recovery room, he struggled to breath on his own and lapsed into a seizure. He was re-intubated and the seizure was quickly controlled with medication.

Austin was taken to the pediatric ICU ("PICU") for recovery as an inpatient. He was treated with steroids to try to reduce the swelling in his throat with the hopes of releasing him within two days. As he had difficulty with such a routine procedure, the attending doctor (who is a pulmonologist, but has a lot of experience with children with special genetic make-up) ordered a gambit of tests.

Hearing Results:
Austin failed his hearing test after the tubes were inserted, thus a CT was performed to determine if both ear structures were normal. The CT determined the only abnormalty was related to the structure of the cochlea (bilateral Mondini dysfunction; where the cochlea normally has 2.5 turns, there is only 1.5 turns). The cochlea is the inner ear structure (has the appearance of a snail shell) that functions to provide signals to the audio nerve. Austin will likely be a candidate for cochlea implants after his first birthday. In the meantime, he will need fitted for hearing aids as state law requires him to wear these in order to be considered for the cochlea implants. Jered and I will begin to learn American Sign Language ("ASL") in order to better communicate with him now and in the future.

Seizure:
Austin had a seizure during the ear tube procedure and the medical team in running tests to determine if the cause can be pinpointed. An EEG was ordered to assist in determining the cause. We have not yet heard the results of the test, but will update the blog when we have updated information. When Austin was born and had tests performed in the NICU, the medical team determined he was at high risk for seizures. Since the first seizure was witnessed, he will be provided seizure medication in the future.

Echocardiograph (Heart Function Analysis):
With the issues Austin experienced in the surgery and our expression of concern to the doctors regarding his higher than normal rate of breathing, a second echocardiograph was performed (first was in NICU after birth). This revealed he has a thickening of the aortic wall (Hypertrophic cardiomyopathy). Currently the thickening of the wall is not causing an obstruction of the aorta, but it is a progressive disease that must be monitored. In the meantime, we will administer a beta-blocker, which is the most common medication for this type of disease.

Ultra-sound:
In order to ensure the medical team has thoroughly examined everything, the attending order an ultra-sound of Austin's abdomen (which includes the stomach, liver and kidneys). The initial results indicated he has a small cyst on his kidney, but is not a concern at this time and will be monitored.

Metabolic Tests:
Austin is having a metabolic examination to determine his cells are functioning properly. If it is determined Austin metabolic work up is not normal, supplements may help his cells function properly. During the metabolic examination a urine sample was administered which we learned Austin has a bladder infection. This infection could have continued without symptoms and would have resulted in septicimia (infection of the blood). We feel lucky the test was administered and his infection was identified.

The Good News:
Given everything discovered as a result of Austin's abnormal reactions to a routine ear tube procedure, the medical team was able to identify more likely issues resulting from Austin's deletion. Jered and I felt blessed when Austin left the NICU in April as he did not appear to have any major medical issues. However, we also knew that so much was unknown and medical issues may arise in the future. Prior to the ear surgery, we had a feeling the procedure may not be all that routine. The issues that arose was not shocking to us. The good news is a lot of potential future issues have been detected so Austin can be more closely monitored by the great doctors at Riley Children's Hospital.


As of July 2, Austin's throat is still to swollen to extubate, so release date is still unknown. We will be updating this blog daily to let everyone know. Thank you so much for all your prayers. Our little guy is a true fighter!!!