Jenna & Patrick Partington's Story

“It is awe inspiring to consider what is happening in this community. We are forever grateful for your loving support.”

Family, friends, and all supporters of JPFH and CRF:

Jenna and Patrick are working hard at their Freshman year of high school.  The second semester seems a bit more manageable, and they are both quite happy at school. It seems that most weeks, one of them is home for a day, if not both.  The twins have about 30% kidney function, and they get very tired very easily. Kevin and I are often conflicted about how much to ask of them each day as they work at their studies and the extra-curricular activities that they are brave enough to add to their days.  Patrick joined the chess club at school and continues to enjoy photography. Jenna has served as a tech assistant for the school drama program both semesters this year and enjoys it. She has also bravely chosen to join the swim team at her school. Some days she swims, and some days she serves as team manager and helps out on the pool deck.  We are glad to see Jenna as part of a team, enjoying time with friends outside the classroom and challenging herself with something new.   

A couple of months ago I took Patrick to the pediatrician for headaches, and it was determined he might have a condition called pseudotumor cerebri, which means increased pressure in the brain, pressing on the optic nerve and sometimes leading to severe vision problems.  The following days saw Patrick missing school and visiting a Neurosurgeon (a six-foot-tall German woman with a thick accent and very little bedside manner), and a Pediatric Neuro Ophthalmologist, Dr. Liu, who is a superstar!  Dr. Liu found a lesion on Patrick’s optic nerve that seemed to be of concern, so an MRI was ordered. Wouldn’t you know, his dental braces interfered with the MRI, and everything in his brain showed up EXCEPT the optic nerve? The next diagnostic step was a lumbar puncture, which confirmed increased cranial pressure and led doctors to remove 12 milliliters of spinal fluid, in an effort to relieve the pressure.  We are waiting and watching to understand if his cranial pressure will increase again. If it does, a new medication will be added to his regime. Another option for pressure relief is the placement of a permanent shunt, which we learned Patrick is not a good candidate for due to very narrow vessels in his brain. Nothing is simple. How does the lesion on the optic nerve play into this? We aren’t sure. He will be seen every three months for quite some time. He will need another lumbar puncture.  He was so sick after the first procedure as he adjusted to the reduced pressure and missing spinal fluid. It was heartbreaking to see him deal with the pain and discomfort of the procedure, and more heartbreaking to know he will need to do it again. Nothing is simple. 

The greatest challenge at this point of our journey is balancing the importance of being in school classes and the critical and time-consuming task of keeping the twins well and tending to doctors’ appointments.  We encourage the kids to do their best in school while we try to remove as much of the stress and pressure in their lives as possible. We will defer foreign language for Jenna, and perhaps PE for Patrick, and accommodations and adjustments will be ongoing.  Their choice of school classes, semester to semester, may very well affect their eligibility to many Universities, but we believe it is most important to create an environment where our kids are able to focus on health and overall happiness.  Can you imagine the stories Jenna and Patrick will be able to write for their college entrance essays? They’ll have that going for them as college looms ever closer!

Finally, we are grateful to Jordan and the team of people who got him to and through the first bone marrow stem cell transplant for cystinosis.  What a hero he is to so many people with cystinosis and their families and friends.  It is awe inspiring to consider what is happening in this community. We are forever grateful for your loving support.

Teresa Partington, Jenna and Patrick’s Mom 

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