Patient of the Month- Joseph and Memphis
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Story written by Joseph and Memphis’s parents.
Joseph was born with a small pneumothorax. He spent a week in the neonatal intensive care unit (NICU) and then came home. He was a very happy baby and met all of his milestones on time except when it came to eating solids and speaking. He saw a speech therapist and finally a special needs pediatrician who discovered he had craniosynostosis. At age two, he had surgery to correct this, and he immediately began eating solid foods, and his word count jumped by 200 words within the first week. His childhood was scattered with frequent illnesses, and we discovered that he had an immune deficiency, which required him to repeat several of his vaccines every few years to keep his immune system protected. Otherwise, he was a very healthy, very happy baby. One thing that stood out was that he never really grew much, despite his large appetite. He was always small and slowly began to fall off the growth curve. This prompted a visit to an endocrinologist. When the growth hormone stimulation test came back negative, the doctor ran a skeletal dysplasia panel. It came back positive for HPP! His earlier diagnosis of craniosynostosis now made more sense as we found out it is common among HPP kids.
Our son, Memphis was different. Despite being born early and leaving the hospital at a ripe 4 pounds 10 ounces, he never spent a day in NICU. He did, however, struggle with reaching all of his milestones. He was what the doctors called a “floppy baby”. He was delayed on everything from rolling over to sitting to standing and walking. He also experienced speech delays like his brother. While Memphis was also screened and tested for increased brain pressure from craniosynostosis, he never required corrective surgery. His HPP was diagnosed simultaneously alongside his brothers when they were both screened for skeletal dysplasia due to failure to grow.
It’s been about six months since both boys began enzyme replacement therapy. While we haven’t noticed any improvement in growth, we have noticed a huge increase in their energy, stamina, and overall play patterns. Starting the injections was challenging, but the Avalon Foundation provided us with pain boxes to ease the transition. This was such a blessing and made a huge difference.
Nowadays, we have tested our entire family and have discovered that ALL FOUR of our children (we have two others; daughters ages 18 and 14) are positive for HPP. That’s because, as we also found out, my husband and I are both positive as well. Since then, we have learned that my mom, my husband’s dad, my aunt, uncle, and two nieces are all positive. It’s been quite a journey for us!
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