Living with HPP- Leia

Hi, my name is Laura Vondrick and I’m writing on behalf of my daughter Leia who was diagnosed with HPP in July 2020. Our family consists of myself, my husband Jason, Leia’s brother Jake and Leia. We are from Daytona Beach FL. Leia was born in October, 2018.

Leia was born premature at 31.2 weeks, weighing 3lbs 6oz. She spent about 2 months in the NICU to gain weight. After coming home, everything was pretty typical as far as growth. She was a chunky, happy girl. Around 6-7 months she started crawling, more of an army crawl, dragging her legs behind her. She started to slim down and I didn’t think too much of it because she was active. Then as she approached 10-11 months she was eating less and very fussy. Then she started spitting up during or after feeding.  She had her first birthday, still looking thin and a few days after her birthday had her one year check up with her pediatrician. Right away the doctor didn’t like how she looked and immediately wanted bloodwork done and declared Leia “Failure to Thrive”. At the time we were unable to get the extensive bloodwork done, we didn’t have the money to pay out of pocket. So meanwhile she was still vomiting and it got so severe that we took her to the ER. They put her on fluids etc. and after 2 days she was transported to the children’s hospital where she would be seen by many pediatric specialists. She would eventually be sedated and intubated to help keep her calm. They ran many tests, did scans, MRI’s, bone biopsy…the list goes on and on. To make a long story a little shorter, nothing significant was found. She had mild reflux, hypertension and a few minor things. Due to being intubated, she had an oral aversion and would not eat or drink by mouth. When she did finally eat or drink she would gag and vomit. GI doctors determined she would need a g-tube. Shortly after placement she was discharged.

So she had many follow up appointments with different specialists and had routine bloodwork about two times per month.  We had other issues arise and had some inpatient visits and some ER visits to the hospital. Overall she was very weak and developed spinal fluid pressure which affected her vision. She developed Nystagmus and was given IV steroids and a medication to help eliminate that. Upon seeing an ophthalmologist, we were told she had a pale optic nerve. That he wasn’t sure what or if she could see. She wasn’t tracking at all, some bright lights bothered her. She mostly follows sounds.

She has been diagnosed with Stage 4 Chronic kidney disease, Hypercalcemia, Microcephaly, optic nerve atrophy, GERD/Reflux, global developmental delay, anemia and HPP. The HPP diagnosis was made in July 2020 by her geneticist. While we were relieved to finally have a diagnosis, I was upset because she got it from me, in turn from her grandmother. But now we could treat her accordingly. Right away her endocrinologist looked into getting her started on StrensiqTM. After a few weeks we received our first shipment of StrensiqTM! We started injections on August 11th, 2020 and have since noticed great changes in Leia’s energy, her mobility and overall demeanor. What a change in such a short time! Leia just recently started to sit up on her own, from laying on her stomach. She has therapy three times per week, which has helped tremendously.

Our hope is to see her crawl soon and maybe even walk. She has taken a few steps with help from her therapists and her toy walker. But there is still the issue of her vision, how will she navigate her surroundings? Our doctors are now working on what is the main cause of her vision loss, and if or how it can be corrected.

So it’s really a day to day journey for us. We are very hopeful that in the long term the StrensiqTM will help turn things around.


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