We believe that we are on this journey for a reason. Life has it’s twists and turns. We never would have chosen this journey, but it was given to us. We are passionate about helping others maneuver through the uncharted waters of rare autoimmune diseases.
Our children don’t fit into a perfect “Diagnosis” package all tied up with a bow (oh, how we’ve wished this was the case). Their illnesses require out of the box thinking from caregivers and doctors. Thankfully both kids have an amazing team of physicians that have done that for both of them but it also helps that they have two bulldoggy moms that will never let them fall through the cracks! Many times we’ve reminded each other of the simple words, “Whatever it takes.”
9630 Bruceville Road 106-240
Elk Grove, CA 95757
Who We Are
We are the proud mamas of two very amazing, resilient kids with rare but similar conditions. One was born prematurely and from the beginning of his life on earth has known nothing but pain. The other was born healthy and remained that way until a viral illness drastically changed her life at nine years old.
In 2008, our eyes met in the post surgical unit of the hospital that our kids are treated at. That day we simply smiled at each other, knowing what it meant to be at an unexpected procedure on a Sunday. We simply exchanged that "look" of sympathy as we knew each other's child had endured a procedure. We each waited quietly for our child to wake up and then we headed for home.
We didn't see each other again until the summer of 2009. Meeting once again following pretty rough surgeries for both of our kids, we found ourselves next to each other in the bays of post op again. One of us said, "Hey, I remember you." We formed a friendship after that day and discovered that it was comforting to not feel alone in this journey. There was another mom in the trenches struggling to dig out.
For six years, we have been each other's rock through good and bad, many surgeries, PICU stays, long admissions, walks to the healing garden, boxing matches in our kids' hospital rooms, coffee runs, shared lunches to avoid the cafeteria, cheering in our children's triumphs and feeling sadness in their pain. We have found humor and laughter in times of extreme trial, it is what carries us through. We have been pushed many times to the edge and past the point that our mommy hearts' could handle.
Over the years, we were trained by many gracious nurses and doctors to manage the unmanageable at home. Central lines, IV's, ileostomy bags, port-a-caths, Broviacs, drainage bags, GJ tubes, G tubes, Cecostomy Tubes, Pain, Nausea...all became words in our vocabulary.
Our wish is for others to not feel alone in their journey, that you may find strength deep within you to continue to find answers.
Kobe was born at 28 weeks gestation; he weighed 2 lbs. He came into the world fighting and has been fighting ever since. He has overcome many of the challenges that come with his premature birth; he has truly beaten – and continues to beat – the odds!
Kobe's intestines have never worked the way they were supposed to. There were signs in the NICU that his body wasn't doing what it should. For years Kobe had terrible stomach pain and his poor tummy was almost always distended. Right before his 4th birthday, after many hospital stays and more tests than we can count he was diagnosed with chronic ulcerative colitis.
Ulcerative colitis is an autoimmune disease that affects the colon and includes characteristic ulcers, or open sores. The main symptom of active disease is usually constant diarrhea mixed with blood. The disease is often accompanied by varying degrees of abdominal pain and is associated with a general inflammatory process that affects many additional parts of the body; Kobe deals with leg and joint pain as a result of his ulcerative colitis.
While the ulcerative colitis diagnosis was a start, Kobe was still having troubles the doctors couldn’t explain. He rarely went a month without being hospitalized. At age five Kobe had a cecostomy or C-tube placed into his colon to help with his motility. The C-tube allowed us to put a flushing (irrigating) solution directly into Kobe’s bowel so that we could flush the stool out through his bottom. At the time, he was one of the only children with ulcerative colitis to have a cecostomy due to the risk associated with ulcers affecting the cecostomy site.
During the cecostomy surgery the doctor removed his appendix and sent them to off to be tested; as a result we learned that Kobe also had Intestinal Neuronal Dysplasia (IND). We finally had an answer as to why things didn't work. IND sufferers have a problem with the motor neurons that lead to the intestine, inhibiting motility and preventing proper digestion.
Kobe had challenges with the cecostomy. His Ulcerative Colitis was often flared which made flushing his cecostomy terribly painful and not always productive. For months we had to give him the drug Versed to cause drowsiness, relieve his anxiety, and prevent any memory of the flush because it was so painful for him.
Because of the constant need for IV’s and blood draws his veins were no longer working the way they should so the doctors implanted a portocath (central line). The port makes it easier to give meds and collect labs intravenously; however, it also comes with a risk of infection, blood clots and port blockage. For us the risks are worth it; however, we are looking forward to the day when he no longer needs it!
Kobe was able to go to school for first grade, but near the end of the school year, he began having major challenges. Cecostomy flushes were no longer working; he was in constant pain and was having to undergo fecal dis-impactions every month. He was forced to go on home hospital school just a few months into his second grade year. We are so grateful for amazing teachers that have worked with us in and out of the hospital to be sure Kobe stays on track.
During an emergency dis-impaction few days before Kobe’s 8th birthday his surgeon discovered that his colon was severely damaged, and was not allowing waste through. We had no choice but to schedule surgery right away. The day before his 8th birthday, Kobe had a foot of his colon removed. Recovery was slow and there were many complications, after a month in the hospital Kobe was finally able to finish recovering at home.
Just a few weeks after being discharged I found Kobe doubled over in pain; he was re-admitted to the hospital and scheduled for surgery. On September 2, 2009, Kobe had a sub-total colectomy – all but 15% of his colon was removed. The 7 hour surgery was very hard on Kobe; he spent 3 weeks in ICU with what seemed like one challenge after another and another 2 weeks out of ICU before coming home.
His doctors sent a portion of the colon that was removed and a biopsy of Kobe’s bowel out for testing. The results came back showing that his bowel shares the same congenital defects that plagued his colon. The question has become not ‘if’ but ‘how’ the disease in his bowel will progress? How much do we need to worry?
It took Kobe months to recover from the sub-total colectomy. Eventually he began feeling better and had a few good months though we spent quite a bit of time in the out-patient clinic for Remicade infusions, steroid pulses, labs, dis-impactions, endoscopies, colonoscopies, and biopsies and had quite a few admissions for pain.
Things started falling apart around October of 2010. We could not control his pain; he was exhausted and miserable. Toward the end of December, 2010 his doctors decided it was time to bring Kobe into the hospital and put him on a PCA (patient controlled analgesia) to help manage his pain. On February 2, 2011, after being hospitalized for months, the decision was made to give Kobe an ileostomy, a surgical opening constructed by bringing the end or loop of small intestine (the ileum) out onto the surface of the skin. Intestinal waste passes out of the ileostomy and is collected in an external pouching system stuck to the skin. This was a step we had hoped to avoid, but the decision as no longer ours to make, Kobe’s body decided it was time. It was another long surgery, many complications and another 3 week ICU stay.
As Kobe recovered, we faced the fact that getting him off of his pain medication after being on the PCA for months had created new issues. Kobe suffered severe withdrawal symptoms and once again became very ill. The doctors attempted to wean him off dilaudid with methadone which caused methadone toxicity. Kobe didn’t wake up, speak, or move for 5 days. It was frightening. Kobe wasn’t fully weaned off the dilaudid until June, 2011.
The ileostomy solved Kobe’s motility issues; however, he had quite a few issues with prolapsing, when the muscles holding the stoma weaken and allow the bowel to telescope out, increasing the length of the stoma. It came to the point that his stoma was constantly prolapsed resulting in the need for 2 stoma revision surgeries.
The first revision surgery was a 6.5 hour surgery that left him very sick. His body was so tired. Two days after surgery Kobe was rushed back into the operating room for a chest tube after it was determined that his left lung had collapsed. He spent weeks back in the ICU; his recovery was very slow and riddled with one complication after another. The second surgery was similar to the first and took a large toll on Kobe. Recovery was very slow.
We were devastated when his revised stoma site started prolapsing. It came to the point when it would stay prolapsed and would lose circulation. Rather than put Kobe through another major surgery, his surgeon Dr. Greenholz decided to try to sew the stoma to Kobe’s stomach cavity. We were grateful for a 3 hour surgery; it was much easier on Kobe’s tired body then the previous surgeries. We did not have a major prolapse again, but Kobe has had quite a few issues with stoma blockage and internal tearing which was very painful and scary for him.
Though Kobe had only a very small piece of colon left, it was enough to cause quite a few problems for him. We were unable unable to get his flares under control; he was bleeding from the rectum and needed blood transfusions to keep his hemoglobin and hematocrit numbers stable. In March, 2012, Kobe’s labs came back with elevated lipase levels, which could be indicative of pancreatitis, so he was sent for an MRI. The MRI showed that he has a large cyst on his pancreas. It also showed that his bile ducts are beading. He was sent for another MRI with a liver biopsy the very next day, the result of which is still in question. Kobe is now dealing with an undiagnosed liver disease.
Since that diagnosis new symptoms have surfaced that greatly affect Kobe’s daily life. He suffers from chronic and intense nausea. He now has a feeding tube to help him get the nutrients he is unable to ingest orally. Kobe LOVES food, not always being able to eat it is very frustrating for him. Imagine going through each day nauseous. It’s awful. Headaches are now a daily occurrence as is fatigue, back pain and the never ending stomach pain. We are in need of answers and treatments to help him get his life back.
Kobe’s road has certainly been bumpy. He has undergone so many treatments, procedures, tests and infusions that we have lost count. He knows more about picc lines, colonoscopies, portocaths, IV's, labs, intestines, catheters, ileostomies and hospitals than most adults. Yet, most of the time, Kobe is doing what kids do; you’ll find him laughing and smiling. He is constantly teaching us about courage and reminding us about what is important in life. He is a joy to his family and many friends, all of whom share the fond hope that he will lead a life free of pain and full of love and laughter.
We have been down many "diagnosis" roads. Having an unknown illness has been extremely challenging for Mad, for our family, and her doctors.
It all started with a viral ear infection, a fever, a headache and vertigo in early 2007. She was just 9 years old. It caused a downward spiral that continued for many years. There were months that she felt a little better and months when we thought we were going to lose her to her illness. Overt the years, we exhausted our local doctors and made various trips to Kansas, Minnesota, Cleveland, and Chicago in desperation for help for our girl. Throughout the course of this "disease" we have been down many paths, most of which have stopped short. We knew from studies that she had gastroparesis of varying degrees of bad, went through many diagnoses...abdominal migraines, cyclic vomiting, she had an Arnold Chiari malformation decompressed and the best Mitochondrial testing available at the time in 2008. We limped along for many years not knowing what was causing her issues, never realizing that they could be autoimmune.
By grace, I stumbled across a website where another mom was talking about taking her daughter going to a new neuromuscular neurologist. Dr. Kuntz. Dr. Kuntz had just moved from the Mayo Clinic to Lurie Children's in Chicago. I found the doctor's contact information online and emailed, explaining our desperation. Mad was in a semi remission and was eating at the time. She was able to walk with a cane as long as we kept her Methadone consistent and she got her 2 a.m. dose. I knew we had a small window to travel before she relapsed deeper again. They set her up with three of the top specialists in their fields, Dr. Kuntz with her vast experience with neuromuscular disorders, Dr. Suresh, one of the top pediatric pain specialists in the country and Dr. Barbara Deal, also one of the top cardiologists in the field of Electrophysiology and an expert at Postural Orthostatic Tachycardia Syndrome. Nurse Joan: "Could you fly here next week?" Me: "I'm ALREADY packing!"
Between the three of the Lurie Children's Specialists, they developed a plan. They had seen variations of Mad in others, but not all of it put together in one hot mess. While we were there, Dr. Suresh performed a nerve block in her legs. Her gastric emptying scan showed moderately delayed motility. We went home with a plan to start IV Solu Medrol 1 gram, every 2 weeks for 3 months. At the end of the 3 months, we would go to once a month for a period of 2 years. If this didn't help, we were to add IVIg. It was at that time that her disease finally had a name and we finally had doctors that recognized it. Autoimmune Autonomic Small Fiber Neuropathy and Dysautonomia (POTS). Following the nerve blocks and the start of Solu Medrol, we easily transitioned her from J feeds to oral intake. She began eating in October 2010 after three years of being unable to take food orally. Her Cecostomy tube was removed in January, 2011 and her GJ Tube was removed during a scar revision surgery in February, 2011. It was the first time she had gone without a GJ tube in 4 years.
While the Solu Medrol infusions cleared up all of her GI issues, they did absolutely nothing for her leg pain. It took me 6 months to find a doctor willing to order IVIg despite Dr. Kuntz recommending it. Finally, we stumbled upon Dr. Brown, a neurologist in the east bay, who was eager to battle with our insurance company to make the IVIg happen. Within two weeks of the infusion at Oakland Children's in March of 2011, Mad was weaning off the rest of her many meds. She went back to school to finish out her 8th grade year. It was pretty surreal for us as she hadn't really been to school regularly since 4th grade and mostly worked with home and hospital teachers to keep her up. By April, she was pain free and floating high on life and considered to be in the best remission state she had been in since the beginning of the illness. The combination of the Solu Medrol and IVIg was an overwhelming success. It was just after 8th grade promotion that she came to me and said she wanted to try out for her high school tennis team that fall.
Our resilient girl spent the summer re-conditioning her body and taking every tennis camp she could take. She made the high school varsity tennis team as a freshman and went on to have a winning tennis season at 16-2 with her partner, a senior. On the morning of her sectionals match at Arden Hills (which she won!), I had to ask for a prescription to Zofran as she was not feeling well. I picked it up and met her up in Sacramento and watched her win in straight sets. She went on to live a normal life for over 16 months with the only medical intervention getting Solu Medrol and Gammagard IVIg infusions every 4 weeks.
In 2012 following a singles tennis match in 102 degree weather, it set off her most recent relapse that lasted 3 years. She was unable to cool down for a few days. We struggled to find the right combination of immunosuppressants to put her back into remission since then. In 2012 and 2014 and 2015, we traveled back to Lurie Children's in Chicago. In September of 2014, Dr. Kuntz changed the name of her diagnosis to Autoimmune Autonomic Ganglionopathy based on Abnormal Thermoregulatory Sweat Testing, Pupillometry Studies and a Tilt Table Test. In the beginning of 2015 after spending nearly 3 months off and on in the hospital unable to eat or drink, she underwent plasmapheresis in Chicago and left the hospital eating and with minimal pain.
In early 2015, we contacted Dr. Richard Burt at Northwestern Medicine in Chicago and applied for an autologous (which means she was her own donor) Hematopoietic Stem Cell Transplant. In May, we learned that she was accepted into the transplant under "compassionate care" as the FDA has not approved HSCT as a treatment for autoimmune disease. Going into transplant, she was on IV nutrition and a 100 mcg Fentanyl patch and Dilaudid for pain. In July, Madalyn began her induction chemo and stem cell harvest. On October 14th after receiving Cytoxan, Rituximab and rATG, her stem cells were then infused back into her body. That winter was tough as she relapsed deeper while recovering from transplant but in February, she turned a corner and was able to eat again and her pain was much less. Her central line was removed for the first time in 10 years. She has successfully weaned off all pain medication and allowed to drive again. In July, she started her first college class. If her body cooperates, she would like to go to medical school.