It was certain that Brooke Kennedy would be tested for SMA shortly after birth, given her sister’s diagnosis.  Bloodwork confirmed Brooke’s SMA diagnosis one month after birth. 

The early diagnosis was at least somewhat fortuitous: being as yet symptom-free made her eligible for admittance to a clinical ‘single key-drug therapy’ study being conducted by the University Of Utah School Of Medicine. Funded by FightSMA and led by Dr. Kathryn Swoboda, the study is called the “Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants with Spinal Muscular Atrophy” or “STOP SMA”. By beginning treatment pre-symptomatic, Dr. Swoboda is setting out to prove that the earlier treatment begins, the greater the potential benefit in delaying onset and ultimately lessening severity of SMA symptoms. Read more about our clinic visits here.

At 2 years old, Brooke had yet to show the signs of deterioration her sister experienced at the same stage. She crawled extensively, pulled to stand and walked with a gait trainer. Starting around 12 months of age, Brooke’s greatest challenge was her inability to gain weight. As is often the case with experimental treatments in small children and infants, it is believed her medication, so apparently successful at delaying onset of SMA symptoms, may indeed have been the culprit for these complications. At 15 months of age, she weighed only 15 pounds and her doctors determined it was critical to abandon her current study medication regimen and start her on the same path as her sister. While this was an unappealing option due to the extreme toxic nature of the cocktail of drugs she must take instead, especially to children under age two, it was the only presently viable alternative. 

Brooke’s inability to gain weight resulted in emergency laparoscopic nissen fundoplication surgery and insertion of a gastrostomy tube (G-tube). Brooke is fed a bolus feeding three times a day and is hooked up to a feeding pump (continuous drip) all night.  She has endured many occupational therapy sessions to work on oral feeding to cut down on the bolus feeds during the day.

At first glance, Brooke has all the characteristics of a normal, healthy child. With a smile on her face at all times and a penchant for mischief, she shows everyone she meets that SMA does not define her. Brooke, like her sister, has a cheerful but indomitable fighting spirit that propels her forward despite the medical challenges she has already faced.