Max's Story

Our son, Max Ciacciarelli, was born on July 7, 2002. But his story and his fight began in the months prior to his birth. In December of 2001 Max's Mom (Margaret) was scheduled for surgery to remove a suspicious lump from her breast. Things became much more complicated when she realized she was pregnant. Surgery was put on hold as the oncologist, OB and anesthesiologist weighed the benefits and risks of performing surgery. Eventually it was decided that we wait until she was 12 weeks pregnant for the operation. It was an extremely difficult and stressful time.

Margaret underwent surgery with only a local anesthetic to minimize the risk to the baby and thankfully the tumor was benign and the baby was fine. We were so relieved, and thought for sure that the rest of the pregnancy would go well (our daughter Grace, now 3, had been born 6 weeks premature). Even after the surgery the pregnancy would be high risk, but we thought we'd endured enough stress that fate would give us a break and a full term baby. We were very wrong. On July 6th Margaret's water suddenly broke and there was no stopping Max's early arrival. The next day he was born 9 weeks premature. He was on life support, but after 5 1/2 weeks in intensive care we brought him home. He had a feeding tube, heart and apnea monitors and began speech and occupational therapy. Soon the tube was out, the monitors were gone and he began to make slow progress.

Max had always been described as "floppy" with low muscle tone, which was attributed to the fact that he had an interventricular hemorrhage at birth. Winter 2003 was very long, as Max developed chronic wheezing whenever he got a cold. He began receiving daily breathing treatments and oral steroids as needed, similar to an asthma patient. He had tubes placed in his ears for minor hearing loss, and his slight far sightedness was being monitored. He remained delayed in his development, but we remained hopeful that he would outgrow his problems.

By 8 months it became apparent Max's back was developing abnormally. He was very arched when he attempted to sit, and he was referred to an orthopedic doctor who diagnosed kyphosis. At his 9 month check up his head was abnormally large. It became apparent that something more serious was going on with Max. A pediatric neurologist recognized Max's symptoms to be indicative of MPS. In May he was diagnosed with MPS Type 1, Hurler Syndrome.

Once diagnosed, our first response was devastation. Our early readings of the disease were of all of the gravest and most tragic kind. We learned that the disease had no cure and the children affected had very short life spans, within which there was extraordinary suffering. We spent time crying together and then we began to find some resolve to do our best to give Max the best life possible.

Our research began slowly, first by making contact with the National MPS Society and then by reading story after story. We came to learn that the latest most exciting treatment (Enzyme Replacement Therapy) was more appropriate for children with less severe symptoms. We also learned that if diagnosed prior to age 2, many children had been given successful stem cell transplants.

While the transplant carries risk, and has a less than perfect survival rate, we realized that if successful, Max would be able to enjoy some quality of life. By destroying the cells that lack the enzyme he needs, and by replacing them with cells that do, the progression of the disease would
be halted. There is a significant chance that Max may die or may end up
with chronic issues for life because of transplant, but without it, there is a 100% chance he will die.

Once we made our decision, the next step was to find out the best path for treatment. Hurler children are rare, and the total number of transplants worldwide is still extremely small. There are a few hospitals with more experience with others, but they differ greatly in their approach. Our goal was to find out which facility would be the best for our son. We were willing to go wherever we had to go to fight for Max.

Looking back, we can now see that a lot of Max's issues may have been early signs of Hurler. All of the doctors and specialists who were following the path of prematurity may have been a little too focused in one area, but we know now that their efforts to help Max "catch up" to his real age were also helpful in fighting the progression of his disease. In fact, the therapies (occupational and physical) he has been on have been helpful in slowing the progression of the disease compared to a child without these therapies.

So now at the time we write this, we have decided to undergo a transplant at Fairview Hospital. And we've decided to share our story with friends, family, and fellow families affected by this devastating disease. We are hopeful that Max's story will be an inspiration for many people and that his life will be one of determination and strength.

Max arrived in MN on July 19, 2003 to begin his work up for transplant. After a few delays, he was admitted to Fairview University Hospital on August 3rd and began chemotherapy the next day. Max's bone marrow and immune system had to be wiped out so he could receive his donor cells. After 10 days of chemo he was given a new chance at life when he received his cord blood transplant.

Contrary to what most people think, a stem cell transplant is not a procedure, it is actually a blood transfusion administered by a nurse. Max's transplant took less than 15 minutes.

In true Max style, he handled the chemo beautifully, with minimal side effects. In addition to destroying the bone marrow, chemo also attacks other cells in the body. He continued to eat well, had some but not too much nausea, and avoided the very uncomfortable mouth and gut sores that many patients get. As expected, his hair fell out but he looked adorable. He remained extremely active for a transplant patient, and even learned a few new tricks while in the hospital.

Then day +14 came. Fourteen days post transplant Max got horrible diarrhea and vomiting. A few days later his blood pressure became dangerously low and he had trouble maintaining his oxygen saturation. It became obvious that Max was septic: he had an overwhelming infection in his body of unknown origin. They began treating the mystery infection with everything they could, and they medicated Max so his heart would pump more. A few days later, just when his blood pressure began to stabilize, Max's lungs became flooded with fluid and he ended up being put on a respirator. A bronchoscopy of the lungs showed bacteria known as VRE was growing. Because of this, from now on, anyone who entered Max's room had to wear a protective gown and rubber gloves as to not spread the infection in the hospital.

During the time Max was on the vent, we received two pieces of information. He was 100% engrafted with donor cells and his body now had the enzyme he so desperately needed and lacked because of Hurler Syndrome. However, he was suffering from Graft vs. Host disease (GVHD), whereby the donor cells were attacking certain parts of Max's body. His skin, gut and liver were under attack by his new immune system.

After almost 2 weeks on the respirator, the breathing tube was taken out and Max was left to breath on his own. Soon after, he began treatment for the GVH with a drug called ATG Max suffered a massive asthma attack. Despite all efforts to try and stop it, Max had to be intubated a second time.

During his second period on the vent his skin and liver began responding to the GVH treatment, but his gut did not. For weeks he stooled massive amounts of straight blood. But, his breathing steadily improved and a little over a week later he came off the vent once again.

Despite intense Respiratory Therapy, after about 7 days breathing on his own he began wheezing again. The doctors tried all possible treatments, but after 5 more days of working extremely hard to breathe, Max was intubated for the third time.

What was so strange about his third intubation was that his wheezing stopped after the breathing tube was inserted. This led the doctors to believe Max had an upper airway problem. After 6 days on the vent, Max was extubated once again and an ENT scoped his throat. No upper airway obstruction was found. He was doing well breathing on his own, but he began to shake and move his arm randomly. He had a glassy look in his eyes and was unable to focus on anything. He had this look during intubations 2 and 3, but this time it was worse. An EEG of Max's brain activity showed he was having continuous seizures. The cause of the seizures was never pinpointed, but some possibilities were drug toxicity, hydrocephalus or the GVH.

Despite the seizure activity and medication to suppress it, Max’s breathing had improved to the point where he was receiving very minimal oxygen support via a nasal cannula. But one morning after a breathing treatment Max experienced a pulmonary hemorrhage. His lungs were bleeding, and he had to be placed on a vent for a fourth and final time. The next day his lungs bled again, the left side of his heart was collapsing and he was placed on an oscillating vent. His kidneys stopped working, and his body began to fill with fluid. The doctors sat us down and told us there was nothing more than they could do. We called our family and began preparing for the worst. But the worst didn’t come for a few more weeks.

Max lived through the night and his vitals improved. His kidneys began working again. He amazed everyone. He improved enough to be placed on the conventional vent once again. However, that is where the improvement stopped. Max never made any advancement on the conventional vent, and several times had episodes of lung bleeds. The doctors discovered new bacteria had invaded his lungs, and he began to show signs of infection. His GVH flared once again and he began another round of ATG to treat it. His blood pressure had to be maintained with pressers, and each day it seemed the need increased.

During this time Max’s kidneys began to shut down again. He gained a lot of fluid weight and dialysis was started. Max managed well, but his lungs did not improve with less fluid. In addition, he now was diagnosed with pulmonary hypertension. The conclusion was becoming clear: Max’s lungs were permanently damaged from so much ventilator need and from infection. The likelihood of ever coming off the vent was remote. In addition, his body was now dependent upon dialysis. His graft vs. host disease was not under control and the risk of treating it outweighed the possible benefit. The doctors sat us down again and this time it was a group of all specialists associated with his care. We asked them if there was anything else to try and they said no. Max had reached the end of treatment and his body was not healed and was, in fact, only continuing to decline.

We made the decision to stop his life support two days later after some family arrived to surround him with love for the last time. On the Wednesday before Thanksgiving, Max was placed in his mother’s arms with his father kneeling beside them both. He was resting comfortably as they turned down Max’s settings on his machines. The respiratory therapist removed his breathing tube and Max took his last breath. A few minutes later, his heart stopped. The face that we were so excited to see free from tubes and tape looked blue and ashen. His mouth was dry and gray. His spirit was gone, and the body that was left behind was devastated.

Max’s last days included great pain and suffering, and only his passing brought him rest. We would have taken our son home in any condition, no matter how sick, but in the end, that wasn’t possible.

The doctors who visited Max’s body after he died all said the same thing, he was an amazing fighter and there was no other choice. The damage to his body would have taken him shortly. We told one of the doctors that we wished we didn’t have to make the decision, and he said, “Oh, no, you don’t have to make a decision, the decision has already been made.” To the end, we are so proud of our son.

We are grateful for the tremendous effort displayed by all of Max’s caretakers, those with us on his final day. We received wonderful care during our entire process, and we are indebted to their compassion forever for helping us get through those difficult months.