Last Thursday night marked the one year anniversary of the beginning of Alyssa’s journey to the abyss and back. We gathered at a local watering hole with several of Alyssa’s friends to toast how far she has come and to hoping for a transplant and good health in the coming year…Alyssa, of course, had a “Shirley Temple.”
January 14, 2009…Alyssa had been sick for several days so some precautionary blood tests were ordered by her GP, whom she was seeing for the first time as a new patient. At 7:00 pm we received a call informing us that the lab work looked abnormal and that it would be best for us to go to an ER. We assumed that she was dehydrated and was just going in to receive some fluids. She walked in with her mom, had some tests, actually shared a lot of laughs with Deb as they waited through the night…then came the words that changed all of our lives forever – “You have a very sick daughter who may not make it through the day.” So began a year of ups and downs with still more questions than answers.
Alyssa spent nearly three months in and out of the Intensive Care Unit, including four days in a coma. She received over thirty plasma pheresis treatments; countless dialysis treatments and numerous blood transfusions. She is in end-stage renal failure (no function) and now receives daily treatments at home through Peritoneal Dialysis (PD). Her lab results were at levels that most of her doctors and nurses had never seen before. Blood pressure ran as high at 220/175 and as low as 70/50. She has been on over 20 different drugs to treat her high blood pressure (currently on 5 for blood pressure and 5-6 other ones to maintain levels of phosphorous, potassium, etc.) and lost close to 40 pounds.
We haven’t updated Alyssa’s Blog recently, so here’s where we are today. Alyssa has been diagnosed with Atypical Hemolytic Uremic Syndrome (HUS) a disease normally seen in children under the age of 10, and extremely rare, with less than 300 patients in the USA. Unlike regular HUS, Atypical HUS is not caused by an external agent (such as a bacteria, virus etc.) Instead, some sort of internal chain of events sets the disease off, and the syndrome becomes active. Due to being so rare, the syndrome is still not well understood. In many cases, it has been identified as a genetic problem due to an irregularity in several suspect genes. In other cases, the disease appears out of nowhere. This is called an "idiopathic" cause. Idiopathic causes are believed to possibly originate from a mutated gene, but not one that has yet been identified, as this is all a developing science. All testing to date tells us that Alyssa’s HUS was triggered due to genetic defect she carries in the “I” gene. This is not a mutation that the experts have seen lead to A-HUS before, but the computer programs that predict these things found a moderate likelihood.
There is no cure for Atypical HUS. In fact, there isn’t even a standard treatment, as each case is different. Plasma Pheresis with blood transfusions has worked best for Alyssa’s treatment. Atypical HUS is a lifetime illness, with the fear of complications always hanging over the patient’s head. These complications may be:
• Kidney failure
• Seizures/Neurological problems
• No response to supportive treatments
• Return of HUS even after kidney transplant occurs
• Severe Hypertension (high blood pressure)
While kidney failure may be the most obvious characteristic of this disease, the disease does not originate in the kidney. Instead, the root of the problem originates in either the blood or the vascular system. Microangiopathic hemolytic anemia occurs. Basically this means that the red blood cells are shattered and destroyed, because the small blood vessels are obstructed. Obstructed by what? Good question. The blood vessels are obstructed by very small clots. These clots occur when platelets rush to a site to stop bleeding. However, in Atypical HUS patients, the platelets begin aggregating in areas where they are not needed. These tiny clots usually are not the same type of clots that can go to the heart or the brain, because they are too small to do any damage there. But they are just the right size to get caught in the renal system, thereby damaging and in Alyssa’s case, destroying her kidneys. The good news is that Alyssa’s HUS has been under control since February, but unfortunately her kidneys are likely to never recover.
Even though the HUS is not active, everyday is a challenge for Alyssa as her medical team tries to find the most effective ways to deal with all the issues that are created when someone loses their kidneys. Her blood pressure continues to rise and fall; potassium & phosphorous levels are all over the map; basic blood labs are continuously out of the norm; she is exhausted all of the time; and must deal with the depression that naturally comes to anyone that has seen their life change as much as Alyssa’s has.
Okay, for those of you that haven’t fallen asleep or returned to your Facebook page, where do we go from here? A kidney transplant is our next order of business. However, before we can proceed with a transplant, Alyssa’s doctors need to have confidence that if the HUS were to return following a transplant, that they would have a way to effectively treat it. In the coming weeks, Alyssa will be going to the University of Iowa to meet with a team of doctors that are considered to be the best in the country when dealing with HUS. The Iowa doctors, in conjunction with Alyssa’s Rochester physicians, will then develop a plan of attack addressing transplantation and the other issues that Alyssa faces. We are both excited and cautiously optimistic as we approach the coming weeks. Stay tuned!
It has been an incredibly difficult year, one that no parent ever wants to see their child go through. Alyssa had never had anything more serious than your everyday illnesses. She had never had blood drawn. Her most feared test was a throat culture, because it always made her gag. In 2009 she went through more invasive tests than most people will go through in a lifetime. She has had blood drawn so many times that her veins are starting to collapse, forcing her nurses to find new entry sites. She hooks herself up every night to her dialysis machine for a nine hour treatment. Everything in our bodies is in balance naturally but as anyone knows who has suffered serious medical issues, once that balance is lost, it is a constant struggle to regain. Sometimes her blood pressure is way too high, other times, way too low. Her fluid levels are either too high or too low, then affecting her blood pressure levels, and if her dialysis is too little or too much, everything else gets affected. She feels nauseated much of the time and is unfortunately exhausted most of the time as well. Phosphorous, potassium and calcium levels are always a struggle to maintain at good levels. She maintains daily logs of all her meds, BP readings and dialysis data. Our little girl grew up and grew up fast. We so hope for her that she can someday live a normal life. Whenever I hear the Les Miserable’s song, I Dreamed a Dream, sung most recently by Susan Boyle, the line “I had a dream my life would be so different from this hell I’m living,” I can’t help but think of Alyssa. We do have strong faith that this nightmare will end and firmly believe she will be able to move on, unfortunately with other challenges post- transplant, but at least not connected to a machine.
As parents, Debbie and I couldn’t be prouder of Alyssa. She has faced this head-on and done everything that has been asked of her. She could have just given in to this horrific disease, but she didn’t. This has become a daily battle that has forever changed her life. Alyssa has had to endure so much, but has seldom complained. She has been everything that a parent could hope for and more. Alyssa – we all love you and we’ll be there to support you in every way we can.
Together, we will get through this!