Cystinosis is a disease that affects approximately 500 people, most children, in the United States. Approximately, 2000 people worldwide are suffering from cystinosis. Cystinosis is a metabolic disease that occurs when cystine, an amino acid, enters cells but has no way in getting out. Because of this, the cell will crystalize and cause cell death. The diseases slowly destroys key organs in the body, like kidneys, liver, eyes, muscles, and the brain. Cystinosis is an autosomal recessive genetic disease – this means that both parents must have the abnormal gene 17P13, and may not exhibit any symptoms – yet they have a 1 in 4 chance their child will have Cystinosis. But, because of the rarity of this disease, most people are unaware of it and it is very hard to find research money to find a cure.
I was given the opportunity to interview two mothers – both of which have children with Cystinosis. Jessica’s son, Bailey was suffering from Cystinosis and his kidneys were failing. His family used social media as a way to find a kidney transplant for him. Jessica received a call from Mary, whose son Joey, also had Cystinosis with an offer to help. Jessica and Mary had met several years prior at Stanford when their sons were both participants in a drug study. Baily and Joey hit it off and are now best friends brought together by this rare, debilitating disease.
Mary’s phone call to Jessica indicated that her blood type matched and that she could be a donor. Without hesitation, Mary offered her kidney to Bailey. Once Mary was determined to be a qualified donor, her kidney was transplanted into Bailey about a year ago.
While I can continue on with this amazing story, I am going to let the two mothers – Jessica and Mary – share their thoughts on Cystinosis and this extraordinary donation of life.
What is Cystinosis and what are the common symptoms or signs?
Jessica: Bailey was diagnosed with Cystinosis Disease, a Fanconi Syndrome at 18 months old. I knew he was sick months earlier but the doctors could not diagnose him since Cystinosis disease is SO rare. 500 people in the US have Cystinosis/ 2000 worldwide. Bailey was lethargic, would not eat anything, and losing weight. Bailey was so thirsty, he would drink everything in sight, projectile vomiting and was dying in front of my eyes.
Mary: Cystinosis is a multi-organ disease that affects every part of the body. Most symptoms start between 6 and 12 months of age. The symptoms include: failure to thrive, slowed growth, sensitivity to light, visual impairment, difficulty swallowing, dehydration, increased thirst, muscle wasting, Fanconi syndrome, stomach and gastrointestinal problems, renal impairment and eventually failure, increased urination, and rickets. Cystinosis is progressive and causes continuous accumulation of toxic cystine levels, which can cause irreversible damage to all tissues and organs, even after transplantation. The first organ to go is the kidney and is usually transplanted between 9 and 14. The disease will continue to attack all other organs. I always tell people it is as if thousands of needles are in you all the time. That is what cystinosis does to our children.
How has the diagnosis changed your lives?
Jessica: Cystinosis has definitely changed our lives. We have to watch the clock and set timers/alarms around the house and on our cell phones for Bailey’s lifesaving 85 pills/day and his hourly eye drops to keep the Cystine from building up in his eyes and making him go blind. We spend a lot of our time at doctors’ appointments including endocrinology, nephrology, optometrist, Transplant Teams, Orthopedic, etc. We have had to fly to see specialty doctors in Bethesda, MD at NIH and Stanford Hospital.
Mary: When my husband and I adopted our twin sons Joseph and Patrick, we imagined having a happy normal family with our daughter and twin boys. It quickly became apparent that something was wrong with Joe. He would vomit all the time, want to drink constantly, urinate excessively, and cry all the time. I was getting maybe an hour of sleep at night. This went on until he was diagnosed at almost four years old. We were exhausted all the time and knew something was wrong. The diagnosis was actually the start of a new normal. We learned medical terms, how to live and deal with hospitals and doctors all over the United States, medications throughout the day and night, and how to make Joe’s life and the life of our other three children as normal as possible. An example is when Joe played little league baseball. We cheered him on as other parents but we had to deal with overheating, passing out, broken bones, dehydration, and overall Joe being tired. We allowed him to play all the sports because his twin brother was and Joe wanted to. My son has Cystinosis, but Cystinosis is not Joe.
Where do you get your strength to face this disease?
Jessica: I get the strength from my boys when I look in their beautiful eyes and see/feel the LOVE! I have no choice but to be strong for my boys. I also get my strength from my family, friends and our fundraiser – Bailey believes dirt bike ride for a cure. The love and support that we feel is amazing! 100% of the money raised goes to the CRF to find better treatments and our wish and dream for a cure for Cystinosis.
Mary: First and foremost we are practicing Catholics and we get our strength from God. Without his presence in our lives Joe would be much sicker and we would not have the happy family we do. We also get strength from each other and we try and support each other. Also the Cystinosis community is small but active and if we have a question or a problem we can communicate with each other.
What can my readers do to help spread the word to others?
Jessica: You can visit https://www.cystinosisresearch.org/donate-for-bailey/ and visit our Facebook page: Bailey Believes-Donate Life.
Mary: People can spread the word through talking about Cystinosis, looking at links to this disease, using the internet and social media to show some amazing stories about families with this disease. If they are in TV and or radio, interview some families with children with Cystinosis. It is such a rare disorder that most doctors do not even know about it.
Mary, how did you come to the decision to donate a kidney to Jessica’s son Bailey?
There are many people waiting for kidneys and being on dialysis is a horrible way live. Many of those people die while waiting. We only need one kidney to live a normal life. When my son Joe needed a kidney transplant I was tested and was a blood match. The problem was that as Joe was adopted, we had zero genetic markers in common. I would still be able to donate to him, but he would have a greater risk of rejecting the kidney. Jessica and Bailey emotionally supported us throughout the journey. We put Joe on various waiting lists for a kidney and went on with the chance he would have my kidney. A miracle happened and a cadaver kidney became available that had various genetic markers as Joe. We rushed him down and he had a successful kidney transplant. As all of this was going on Bailey went into kidney failure and was put on dialysis. Family and friends were tested to see if they could donate but for various reasons they could not. Joe was doing great and Bailey’s health was failing. I had already been tested and accepted as a donor at Stanford so I said I’d donate if I was a match. I was a match and Bailey received my kidney. I donated because I love Bailey and his family. He is a great friend to my son. Also as I stated earlier, the wait for a kidney is long and you only need one kidney to live a healthy normal life. Kidneys from live donors make the healthiest kidneys for transplants. I would do it again if I could.
What has been the most difficult and most rewarding/encouraging part of your journey?
Jessica: Cystinosis has robbed us of a “normal life” – our lives are surrounded by alarms for Bailey’s 85 pills per day and eye drops every waking hour, doctors, and blood draws. There are a lot of ups and downs! But with the LOVE of our family and friends, it makes life easier. I want to see children and young adults live a “normal life,” get a job, get married, have children and live their dreams! Most of all, find happiness! My dream for my son Bailey and everyone living with Cystinosis is to dream big, not let Cystinosis define them, not have to worry about meds, doctors, and their life expectancy! Please consider donating to the Cystinosis Research Foundation. Unlike a lot of foundations, 100% of all donations go to find better treatments and our wish of a dream for a cure for this horrible disease. We are getting closer to our dream of a cure because of the families coming together to raise money and Nancy Stack and the CRF. I BELIEVE there will be a cure in my lifetime. But time is running out for the older children so we have to work hard!
Mary: By far the most difficult part of our journey has been seeing our son and all the other children with this disease suffer so much. When Joe was diagnosed, we were told he would most likely pass away at around 10. The most rewarding part of this journey is the friends and support we have gotten in this small cystinosis community. Also seeing doctors work to keep our children as healthy as can be is amazing. Joe is 17 and doing quite well for having this disease. Another reward is seeing the strength our son possesses. Nothing keeps him down. Even after being out of school for two years with the transplant and some rejection, he is graduating High School with his brother and his class.
How are Bailey and Joey doing today?
Jessica: Bailey is feeling a lot better these days since he received his GIFT OF LIFE from our ANGEL Mary Jordan! Bailey struggles severely in school due to his disease and the fact that he has missed over 4 years due to his illness, dialysis and kidney transplant. Bailey will be a senior next year and he dreams of becoming a Dirt Bike Mechanic after he graduates high school. Bailey likes to ride his bike, dirt bike and work on building stuff in his shed that he calls his “Man Cave”.
Mary: Joe and Bailey are doing well today. Joe is graduating with his twin brother from High School and will try to go to college as well as join various studies to cure the disease. It is degenerative so they both take about 40 medications a day and deal with the side effects. Joe is fighting muscle wasting, and high blood pressure. He also hates taking cystine eye drops that are painful and are to be taken hourly. Joe and Bailey do not give up and do take all their medications which will prolong their lives. We have hope that one day soon there will be a cure!
To find out more about Cystinosis, meet some of the other children stricken with the disease, or to donate to the research for a cure, please visit The Cystinosis Research Foundation’s website.
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