Ensli’s fight for a diagnosis

Blake Perkins is organizing this fundraiser.

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My name is Blake Perkins. Ensli Grace Perkins is 13 months old, she’s my daughter.

At 3 weeks old her heart rate was 221... which was blamed on “reflux” and it was ruled out that it wasn’t reflux. She screamed for hours and hours for 2 months straight, she would swallow non stop and was so so stiff.. after she did an echo at 19 days old she had pulmonary artery stenosis & the murmur but the PAS resolved itself.

then at 3 months old everything else started occurring. Tracheal tugging, wet breathing, color change, tachycardia with the color change, abnormal movements, 2 UTI’s etc.. possible dysautonomia. She’s had high blood pressure..everything has been undiagnosed. She has seen so many specialists within Louisiana and texas children & they can’t figure out what is causing this autonomic dysfunction.

Her CPK & carnitine blood work were both elevated so the neuro sent us to genetics the next day. We got the results back & they were negative (the mito, deletion & wes) however the primary findings for the WES were uncertain.

Ensli has a lot of complex symptoms and there’s no physical finding on most tests she’s had done to indicate what’s causing these symptoms.

Her geneticist also explained that since she’s so stiff and having these abnormal movements, the UTI’s could be from the muscles tightening in her bladder holding in urine. Her geneticist also told us that he’s never seen all these symptoms in 1 person before.

Laryngomalacia has been ruled out 4 times which means no answers on the tugging or wet breathing or the high Resp rates. Her Resp rates laying down range from 53-57.

She also recently got glasses.

From the cardiac side: We do know that she has tachycardia during color changes, 1 cm of pericardial trivial effusion, but that’s not causing her color changes or swelling.

Her heart rate recently has gotten up to 217 BPM.

She was also in the 16th percentile in January and now is in the 7th. Her lips have recently been turning purple, very often.

She has been undiagnosed for a YEAR. Her color change is progressing and her hands are becoming more stiff due to the swelling.

Our plan is to raise money to help with traveling expenses & future appointments.

Ensli got accepted to the Children’s Hospital of Philadelphia. She will be seeing the diagnostic and complex care center on August 22nd.

If you find it in your heart to donate, it would be greatly appreciated. If you can’t donate, please share this and say a prayer that Ensli will get answers.

We have been fighting for a year to seek a diagnosis for her and to hopefully get her treatment to stop these symptoms.