Lily

lily_mslLily just turned 3 years old. She is obviously teeny tiny for a 3 year old. She’s about 20 lbs still and is about the size of a 1-1/2 year old. She has a chromosomal disorder. More specifically, she has a microduplication of her X chromosome. This can cause a wide range of symptoms. In her case, she has a duplex kidney with an ectopic ureter and hydronephrosis. At one year old she had surgery to correct her ectopic ureter, which has helped the hydronephrosis. She also has hypomyelination in her brain. Due to this, she has hypotonia (low tone) and global developmental delays. Cognitively, she’s doing pretty well though so we are fortunate in that regard. She currently recieves PT, OT, and has received ST for feeding in the past and probably will again in the future. I am an SLP so I work with her at home but sometimes children respond better in regards to structured tasks to someone who is not their parent. She learned how to walk at 2.5 years old but still uses her gait trainer outside and on uneven surfaces. She also has AFOs due to excessive ankle pronation. She is very unbalanced and uncoordinated but has improved so much with therapy and her AFOs. Her fine motor skills are still lagging and so is her language but she has made significant progress. She overcame huge feeding issues that we battled until she was about a year and a half. She still won’t drink milk or boost but short stature is part of her diagnosis so we aren’t as concerned for now. A big factor in that was managing her reflux. Prevacid is the only thing that has helped and she will only take it in solutab form. Our primary insurance does not cover it and without tefra it’d be $250/month. She recently began having seizures but they are being managed with keppra. In addition to her PCP, Lily sees several specialists at ACH. She sees genetics, urology, neurology, growth and development, rehab specialty, and has seen nephrology and pediatric gynecology (due to a didelphic uterus).

I cannot even imagine what we would do without TEFRA. I am a therapist and my husband is a firefighter. We both work hard and make a good living BUT we miss alot of work between her therapy and doctors appointments. That combined with the cost of her medical bills for appointments, test, and treatments would leave us in huge medical debt. We are so thankful for TEFRA and it really has changed Lily’s life.

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