Having a child affected by Duchenne muscular dystrophy means attempting to maintain a sense of stability which is often an unsteady target. As we seek normalcy, the very ground we walk on seems to move like a gelatinous surface. Still, most families cope and deal with each change as it comes while waiting for the next, often holding one’s breath. There are instances when an event comes out of the blue that challenges the delicate foundation we grasped making us wonder what happened and what comes next.
This concept was recently reinforced for me beginning with a scheduled visit to clinic for my sons. Matthew and Patrick receive their primary DMD care at the Center for Genetic Muscle Disorders at Kennedy Krieger Institute in Baltimore. It takes much effort and sacrifice to get them to Dr. Kathryn Wagner’s clinic, but the interdisciplinary team she has assembled works hard to keep patients healthy and focusing on maintaining function. In my opinion Dr. Wagner’s team “wears white hats”. We drive from Maine to Baltimore, stay overnight then go to clinic the next morning. This was the plan recently, yet due to a single incident, everything just collapsed.
That Friday morning as I drove from the hotel to clinic I stopped at an intersection and heard a series of load noises as articles fell to the floor. One thud happened to be Patrick who slipped from his power wheelchair. In our haste to leave the hotel, Patrick gathered his possessions and simply forgot to fasten his seat belt and the momentum caused him to slide. I immediately pulled over to help Alice get him off the floor. He was in much pain and it took much effort to lift him in the confined space especially being careful with his injuries. Once he was back in his chair we drove the few remaining blocks to the hospital. We checked in and told Dr. Wagner of Patrick’s fall and were sent for a series of X-rays. As the technician checked the images on her computer, Patrick and I saw the break in his right femur. We were next escorted to Johns Hopkins Emergency Room where his X-rays were evaluated and a treatment plan was made for not one, but three fractures. Lesson 1: Always wear a safety belt and make certain those with you also buckled.
Back at Kennedy Krieger, Alice took Matthew to his appointments and spoke with other DMD families at the clinic about Patrick’s injuries. Three families gave her their contact information with sincere offers to have us stay or stop by their home or help in whatever way we needed. Alice texted other DMD families she knew to tell them about Patrick. They also asked what they could do to help. Lesson 2: This community possesses a remarkable safety net. There is always someone who has a great suggestion, place to stay or is otherwise able to help.
The orthopedic team at Hopkins decided surgery was not the best option for Patrick based on the risks and limited benefit. He doesn’t walk and there will be no weight placed on his femur once healed. Surgery is hard enough for an unaffected person; it can be very dangerous for someone with DMD. The surgical resident put a brace on Patrick’s right leg he said would keep the leg stable and splinted the left ankle.
We were released after 5:30 PM then picked up pain medication before beginning a long journey home. Rush hour traffic lasted from Baltimore, through New Jersey and into New York City. With each bump in the road my heart sank knowing the jostling must be hurting Patrick who never complained or cried out. Alice and I looked over our shoulder or in the rear view mirror often checking on Patrick. It was 4:30 AM when we arrived home, each of us completely exhausted. Alice and I tried to lift Patrick into bed, but there was no way to get him in comfortably, so he slept in his power chair. By 8:00 AM I was up and sending e-mail to the boys’ orthopedic surgeon at Shriner’s and another friend who had contact information for a surgeon I know and trust. I showered and left for work before noon. Alice also called two other families seeking advice which led to more messages to area doctors on Patrick’s behalf. During the day I spoke with Dr. Wagner who shared her concerns about the risks of surgery. She had talked to the orthopedic surgeon at Hopkins who reiterated her belief the risks outweighed the benefits. As much as I agreed, I needed to speak with the boys’ surgeon about any possible interventions that would allow us to care for him without reinjuring him. Patrick was simply in too much pain to do nothing.
That evening the surgeon from Shriner’s called me at home. We talked about options. I had sent him a picture Alice had taken of Patrick’s X-ray from the hospital computer and while it wasn’t clear enough for diagnostic purposes, it showed a horrible break. We talked at length about surgical options and the risks due to osteoporosis, malignant hyperthermia and cardiac and pulmonary concerns. Instrumentation applied surgically might fail due to brittle bone. He was worried about pulmonary damage and that Patrick had been on steroids for many years. He told me he called a colleague at Children’s Hospital in Boston where a full evaluation would be made before a treatment plan was started. Alice would make this trip with Patrick and I stayed home with Matthew to allow him to go to classes and so I could go to work. Lesson 3: Doctors may not make house call, but when necessary, some will call your house. Especially in rare disease developing an honest and open relationship with your families’ doctors is important.
Alice arrived at Children’s Hospital at 10 PM and thankfully was met by our daughter Rachel who is living there while attending college. It would be a long night for us all. At home I kept in touch with Alice and updated people about Patrick’s circumstances. At 11:30 PM new X-rays were taken and evaluated, options discussed and a plan was made while Alice and Patrick waited. He was admitted and brought to a room around 7:30 AM. The orthopedic surgeons recommended replacing the splint on Patrick’s left ankle as it was poorly positioned. They would also replace the undersized brace on his right leg with a sturdy hinged brace that would more securely immobilize his leg. I hoped he would be released Monday night, yet things move at a specific rate at hospitals. Patrick was feeling better, except when moved, and Alice and I were again thankful their plan did not include surgery. I sent messages to Dr. Wagner and the surgeon at Shriner’s and they too were relieved with these arrangements.
Later Monday evening Alice called me to let me know Patrick was having some pain when transferred using the brace and decided a cast would work better. They were waiting for X-rays, yet the technician wanted them to go to the lab and not use the portable machine. Alice didn’t want to see Patrick moved again, so she told them to wait to speak with the doctor. We now hoped they might get home late Tuesday. The next morning Patrick had his X-rays and it wasn’t until later in the day before the cast was applied. The physical therapists wanted changes made to the power chair to support his legs in an upright position. By the time this was all completed it was too late for a Tuesday discharge. Lesson 4: Just because it appears you should be released from the hospital doesn’t mean you will. Waiting at home is not any easier than waiting at the hospital.
Alice and Patrick came home Wednesday in the early afternoon. We will have to be very careful moving Patrick for some time. Like every other change that comes with DMD we adapt until the next change comes and adapt again. It is really frightening that a fall which would have meant bruises to most people caused such damage to Patrick’s legs. Having limited weight bearing activity over the years, exacerbated by steroid use, leads to osteoporosis in DMD setting the stage for a higher risk for injuries like Patrick experienced.
I realize many people become overwhelmed dealing with chronic illness, yet if they are given support during the more difficult times it can lead to better outcomes. Staying informed of what to expect and trying to anticipate changes goes a long way to being prepared and with making needed adaptations as they occur. I believe most families are fully capable of caring for their loved ones with DMD given the right tools including information about appropriate options and understanding risks and benefits more clearly which can lead to making more informed decisions. Knowing when to pursue other options may lead to better outcomes.
Lesson 5: Building a network of at least one understanding physician and informed parents, including a few with older sons who have the experience is crucial for families affected by DMD. No one person can do it alone and having good advice goes a long way towards making better decisions and improving outcomes for those living with DMD.
Alice and I know it won’t be easy caring for Patrick until he is fully healed. This isn’t our first day at the rodeo and won’t be our last. This is our life.