Robby’s Story

My pregnancy with Robby had been pretty problem-free aside from morning sickness.  I was unaware of Joubert Syndrome or kidney issues at that time. I only gained about 20 pounds, just as I did with his older brother.  One thing I recall when reflecting on things after the fact was that he didn’t move around in utero as much as his brother did.  He was born in March of 2003.  After his birth, we discovered that I had low amniotic fluid levels which is common among kids with kidney issues.   We also learned that Robby’s kidneys were significantly enlarged.  The doctor could see them “bulging” out from his back when performing the newborn exam in the delivery room.  I am sure his low muscle tone also helped to make his enlarged kidneys more obvious as well.Robby was transferred to the NICU at our local Children’s Hospital while various tests were run.  He was discharged 2 weeks later after being diagnosed with suspected autosomal recessive polycystic kidney disease (AR/PKD).  JS was not mentioned at this point.  He was also diagnosed with low muscle tone, high blood pressure, and hypothyroidism.  He also had some breathing concerns- shallow, rapid panting.  It was so nerve wracking to try to give a newborn 6+ medications twice a day! At the time of his birth, we were told that his kidney function was around 89% of that of a typical child his age.We spent the next 6 months seeing various specialists in relation to his diagnoses.  During his NICU follow-up, his doctor was concerned that he still was not able to hold his head up and that he was so “slippery” when being picked up.  Because of his low tone, he felt like he could slip out of your hands when picking him up under his arms.  Some tests were ordered, including an MRI, which led to his diagnosis of Joubert syndrome at 7 months of age. Further tests discovered a coloboma (a condition where normal tissue in or around the eye is missing at birth) in one of his eyes.We got in contact with what is now the Joubert Syndrome & Related Disorders Foundation (JSRDF) and were lucky enough to attend the 2004 conference in St. Louis.  At this time, we were able to confirm his JS diagnosis.  In speaking with Drs. Parisi and Gleeson about his various diagnoses and symptoms, we were told that he likely has the COACH variant of JS, due to medical issues with his eyes, liver, and kidneys.We spent the next few years making sure that Robby was staying hydrated and healthy.  Unfortunately, he was a frequent overnight visitor at our local Children’s Hospital.  Multiple times every winter, he would become dehydrated or develop respiratory symptoms of RSV regardless of our best efforts to keep him safe.  During one of his hospitalizations, when he was around 3 or 4 years old, he contracted a C. diff infection.  This put a large amount of stress on his kidneys and his kidney function dropped to around 60% at this time.In the following years, we would see his kidney function drop, rise a bit, and then drop some more.  We started him on growth hormone injections. A g-tube was inserted to help with his hydration and maintain his kidney health which he still uses to this day.  Eventually, when he was 11 years old, his kidney function dropped to the point where his nephrologist told us to start looking into potential living donors for transplant.We are fortunate that Robby was able to have a transplant.  Another close JS family had a child that was also in need of a transplant but was too medically fragile and a transplant was not a viable option for them.  We knew a transplant would help Robby’s quality of life, especially with how restrictive it was leading up to and during dialysis.  I had heard from adults in the PKD (polycystic kidney disease) community that they never realized how badly they felt daily until they had a transplant.  They said the pain and discomfort they experienced was actually their norm.  We were also very fortunate to identify his father as a compatible donor so quickly and did not have to wait on the transplant lists.Unfortunately, Robby’s kidney function declined quicker than we would have liked.  He had an emergency procedure to insert a dialysis port in late March 2015 and started dialysis three times a week.  He finished the school year at home as we finished the donor testing process.  On June 24, 2015, at the age of 12, Robby had transplant surgery.  Thankfully, both Robby and his dad came out of the procedure with very few issues.  Robby was in the hospital for less than a week and his dad was discharged just a couple of days after surgery.Robby’s recovery was really smooth.  He disliked the frequent blood draws and wasn’t too keen on the increased frequency of follow-up appointments.  I think a big part of it was that he simply felt so much better than he had pre-transplant.   Due to the extra heavy-duty anti-rejection meds given to him in the hospital, he had to be very careful about coming into contact with germs.  We basically quarantined that summer, allowing the medications to get out of his system and his white blood counts to stabilize.  One great thing to come about as a result of the transplant is that he learned how to swallow pills, and some of them are pretty big!  With 13 medications daily, I am glad to not be dosing up liquid meds anymore!Robby’s dad has done very well since the transplant.  Aside from the initial post-procedure discomfort, he has not had any problems from being a kidney donor.As of August of 2020, Robby is 17 years old and will be  entering his junior year of high school this fall.  Like many teen boys, he loves to play video games and has a group of friends and family that he plays games with online.  He also likes to go to the movies!  He is interested in going into a computer-based field after high school, maybe being a video game designer.  He also has enjoyed creating things through computer-aided design and drawing (CAD) after a class in school last year.  Robby just celebrated his 5-year transplant-iversary this summer and his nephrology team is very happy with how things are looking!Nadine Phillips; parent of Robby, age 17 

Tips From Our JS Families

• Speak with doctors.
• Seek out support.
• Make sure you know your options.

We had a lot of sleepless nights and tears when deciding the right thing to do.From Mary Hyman, mother of Carle, age 32