Our Stories

Mac’s Story

Our precious son, Mac, has FSGS.  This is his journey so far…

Mac was originally diagnosed with Childhood Nephrotic Syndrome after his five-year-old well-child checkup.  Our pediatrician noticed that Mac had elevated blood pressure and checked his urine, which was positive for protein (3+).  Because he seemed so healthy, it was hard to believe that our spunky little boy was really sick.  We were completely shocked and devastated by the news.  Being a physician, Mac’s dad knew enough about this disease to know that it would be life changing for all of us.  How could Mac look so normal and healthy and be so sick?  This is a question we continue to ask.

After a referral to a pediatric nephrologist, we were relieved to hear that Mac most likely had Minimal Change Disease and should respond to steroid treatment.  He was started on steroids and other medications to control the symptoms of the disease.  In Mac’s  words, his kidneys were “silly” and he was a trooper through all of the tests and appointments.  To our dismay, the steroids did not induce a remission, but he was greatly affected by the side-effects of the prednisone.  This was the first time that he had ever appeared to be unhealthy.  He was extremely swollen and his blood pressure was even further elevated, despite significantly restricting his salt intake and taking an anti-hypertensive (not to mention the personality changes, hyperactivity, mood swings, etc).  It was around this time that we realized that Mac’s cholesterol was alarmingly high, so a statin was added to his daily meds.

After failing to respond to several months of steroid treatment, our nephrologist recommended a kidney biopsy to get more information.  Again, we were encouraged because his kidney tissue appeared normal (no evidence of FSGS) and the Minimal Change Disease diagnosis still seemed most likely, although our nephrologist always reminded us that FSGS was still a possibility.  With this news, we were still holding out hope for a remission and moved to another course of treatment: cyclosporine.

Again, while experiencing multiple unpleasant side effects (mood swings, fatigue, significant facial/body hair growth), Mac’s kidneys did not stop spilling protein and his albumin (level of protein in his blood) remained significantly low.  It was at this time that we decided to have some genetic testing and move to a different medication.  The testing would tell us if Mac has one of the known genetic mutations that is linked with Nephrotic Syndrome (and will be highly unlikely to respond to treatment.  While waiting on the results from the University of Michigan, Mac started taking Prograf (tacrilomus).  Six months later, Mac still failed to show any response to treatment, but seemed to be tolerating the Prograf relatively well (other than some problems with sleep).

The results from the genetic testing came back and we were thrilled to hear that Mac did not have any of the know genetic mutations.  This restored hope for a response to treatment and relieved some of the fear that our other child could also be predisposed to Nephrotic Syndrome.  Before deciding on our next step, our nephrologist recommended a second biopsy because he was suspicious that our original biopsy may have missed FSGS.  As we feared, this biopsy did find the scarred tissue that confirmed a diagnosis of FSGS.  Additional scarring caused by medication was also found.  With this new information, we investigated the available studies that were examining the efficacy of Galactose, which is actually a naturally occurring sugar.  We were hopeful that Galactose would be a great match for Mac, as he was found to be positive for the FSGS permeability factor, which Galactose is suspected of binding to, preventing the factor from doing its dirty work.  Additionally, Galactose was a good next step for us because it is naturally occurring and should not cause additional scarring to the kidneys.  Unfortunately, after several months of treatment, Galactose did not work for Mac.

Discouraged, but not defeated, we made the decision, upon recommendation from our nephrologist, to give Mac’s little body a break from the medications that are attempting to put the disease in remission.  We decided to simply treat the side-effects of the disease (blood pressure, cholesterol, frequent vitamin imbalances, etc).  It has been over a year now that we have been proceeding this way, and Mac has appeared to be healthier than ever.  His body has been more effective at fighting sicknesses (common cold, flu, stomach viruses, etc) and he finally got his energy and appetite back!  Although we are always looking for a new and promising treatment option for Mac, we are enjoying this period of time in which Mac feels well and can focus on just being a boy.  We realize that things could change at any time.

We continue to be amazed by his physical and emotional strength through this process, but are frustrated by the fact that he has never been in remission or responded positively to medication.  Mac inspires us to keep up the fight and continue to search for more answers.  At the end of each day, we try our best to be conscious of putting it all in God’s hands, for He has taken such good care of us through our journey.  We know that He loves Mac more than we can even imagine and that He will use this situation for good.  For that, we are thankful.

In 2008, I, along with Dana Massey and Casey Young, ran the Kiawah Island Half-Marathon in honor of Mac to raise awareness and funds to support kidney disease research through NephCure.  The Massie family is excited about having a part in putting together a Walk/Run in the fall 2011 in her hometown for the same purpose.

Told by Mac's mom, Meg.

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