By Brendan Sullivan
As a military veteran who has traveled the world, I experienced more in a 6 year period than many people will ever get to experience. I’ve been to countries that the majority of people will never be able to travel to. But I’ve also experienced, twice, something which no one ever wants to experience: I’ve buried two children in the past 5 years due to a rare form of Congenital Muscular Dystrophy known as Walker Warburg Syndrome (WWS).
A little history on Walker Warburg Syndrome (WWS): WWS is, as previously stated, very rare. Its overall occurrence rate is unknown, but believed to be approximately 1 in every 100,000 live births. It is the most severe form of Congenital Muscular Dystrophy, with most children dying before the age of 3. Abnormalities associated with WWS are typically found via pre-natal ultrasound. Some studies have shown abnormalities visible around the 14th gestational week. With my two daughters, abnormalities were found at approximately 20-22 weeks. The most typical abnormality seen on a prenatal ultrasound of WWS patients are hydrocephalus (water on the brain) due to the extremely enlarged ventricles in the brain. Other abnormalities that can be picked up on ultrasound include eye abnormalities, such as issues with the optic nerve, and potentially even cataracts.
Those children born with WWS will show several other signs of the disease. Those include severe generalized hypotonia (meaning the child is very floppy with no muscle control), severe muscle weakness, developmental delay and occasional seizures. WWS is often associated with type II cobblestone lissencephaly (which I know that Ava had, but was not confirmed in Keira), hydrocephalus, cerebellar malformations, abnormalities of the corpus collosum and eye abnormalities (size of the optic nerve and cataracts). WWS falls under a form of Congenital Muscular Dystrophy (CMD) known as the a-dystroglycan CMDs, of which several other subtypes have been identified (Muscle Eye Brain Disease, Fukuyama CMD and CMD type 1C).
Now that you know a little bit about WWS, here is our story. My wife and I are the parents of 7 children: Aidan (age 10), Katelynn (Age 8), Ava (passed at 2.5 yrs old), Keira (passed at 5.5 yrs old), Liam (age 3) and our twins, Brenna and Colin (12 weeks). Prior to the birth of our daughter Ava, we had no reason to think about, or even worry about having a child with special needs, much less something as devastating as WWS. We have no known family history of anything even similar. Our oldest two were born perfectly healthy. The only times, to be honest, that muscular dystrophy was even mentioned in our house was when the MDA telethon would come on every year. Other than that, those words were never spoken because we never had a reason to speak about them.
Things then suddenly changed. My wife, while pregnant with Ava, went to a routine 20 week ultrasound where the doctors noticed that Ava either had a partial or complete agenesis of the corpus collosum. She also had mildly dilated ventricles, but nothing that seemed to be too concerning. Nothing else was discussed by the doctors at that time, including no mention of WWS or of Muscular Dystrophy and we were ultimately set up with an appointment to speak with a genetics counselor. When we met with the counselor, there still was no mention of WWS or CMD. The counselor ran through the entire family history and gave us some papers of which I could not tell you what was on there. She and our children’s pediatrician did say that any of us could have a partial or complete agenesis of the corpus collosum and not know about it. Many of these abnormalities are found by accident, like after a car accident when the patient receives a brain CT or an MRI.
The rest of the pregnancy with Ava was relatively uneventful. The delivery was just as uneventful as the pregnancy. Ava spent absolutely no time in the NICU and was sent home after two days. The only thing, thinking back, that struck us as somewhat odd was that Ava had a very high-arched palate. There really weren’t many signs of other problems for like the first month. Then we began a slow, spiraling descent toward a journey with WWS and CMD.
We had begun to notice that Ava did not eat well. She would have a very poor suck on the bottles and would frequently vomit after most, if not all, of her feedings. We noticed also that Ava was pretty floppy (hypotonic). At a routine follow-up with the pediatrician, it was also discovered that Ava had cataracts in both eyes. This led her pediatrician to refer us to specialists, to include a geneticist, for further workup. The words WWS and muscular dystrophy still had yet to be mentioned. All doctors were telling us at that point is that they didn’t know exactly what was going on, and they wanted to run more tests.
We pushed and pushed for more tests and information, all the while doing our own research. When you Google symptoms without a source for those symptoms, you come up with all sorts of diagnoses. During this search we came up with diagnoses like Lissencephaly, SMA and a few others I couldn’t remember. Still nothing with the words Walker Warburg Syndrome. Eventually, however, those words would come into play.
After her pediatrician found the cataracts, Ava was sent to see an eye specialist, whom eventually scheduled her for bilateral cataract surgery. Following the procedure, done on her under general anesthesia, we were told by the doctors that she was having a lot of trouble coming out of anesthesia, which wasn’t all that much to begin with. It took her over 2 hours to come out of it, which required her to stay in the operating room for quite a while, and eventually a 2-day stay in the hospital. Looking at this issue with the anesthesia, it got her doctors talking and researching her symptoms.
Finally, in the fall, after two hospitalizations for aspiration pneumonia, G-tube and reflux surgery, and a host of other issues, the doctors finally approached us with a diagnosis: Walker Warburg Syndrome. They did not approach us with a doom and gloom tone, but we knew in our hearts that it wasn’t a good diagnosis. We left with a diagnosis, finally, and came home with a huge fight on our hands.
For several months, Ava remained very stable. Around her first birthday, I took a job in Washington, D.C. working for the Dept of Defense as an Operations Analyst. It was also around this time that my wife found out she was pregnant with Keira. We were understandably nervous, but because of what the geneticists and genetic counselors told us about Ava, we were hopeful that this new baby would not suffer from the same disease.
Things again were going well with the pregnancy, until that dreaded 20 week ultrasound. I will never forget the call I got from my wife, who went alone while I baby-sat the kids at home. She was in tears, crying loudly while still in the examination room. The doctors had told her that Keira’s ventricles were severely enlarged, among other abnormalities, and that, based off of Ava’s diagnosis, they were going to diagnose Keira as having Walker Warburg Syndrome. They asked my wife if we wanted to terminate the pregnancy, and we both strongly replied NO! We would not terminate. We would give Keira, and her sister Ava, the best life they could possibly have. And the fight really begins.
About 14 weeks later, while in the midst of being in between long-scheduled shifts at work, I got another call from my wife after one of her follow-up visits, that she was being hospitalized with pre-term contractions and labor at 34 weeks. Already scheduled for a c-section because of the size of Keira’s ventricles, she would be kept there under close monitoring by the labor and delivery team until she reached term, or an emergent delivery would be required.
One week later, on December 22, 2008, Keira had decided she’d had enough and wanted to make her grand entrance. She began having issues with her heart, so the L&D team opted for an emergency C-section. I was in Washington D.C. at the time, stuck at work behind a construction site, but managed to get them to move so I could rush to Fairfax and be there in time for the delivery. I barely made it in time to be thrown into a pair of scrubs, put on the “hazmat suit” and run into the OR.
When Keira was born, it wasn’t overly obvious that she had anything wrong with her. She did have a big head, which we knew she would based on the ultrasounds, but it did appear that she was breathing on her own. We even got to hold her and take a picture prior to them taking her directly to the NICU. Seeing her a few hours later in the NICU after my wife was out of the recovery room, she looked completely different. She had IVs, a feeding tube and was also being ventilated using a BiPap machine.
Keira’s NICU journey proved to be a tough one, but Keira also proved to be a tough little girl. Within a few days of being born, Keira had surgery to have the VP shunt placed. Within another few weeks she had cataracts in both eyes removed, and then came one of the biggest, most important decisions we’ve ever had to make for Keira. This is a decision that we didn’t think we’d need to make so soon, and one that up until the end of her life, we never had to make for Ava.
After about a month, maybe a month and a half, Keira started to show signs of seizing. Her seizures at that point weren’t more than infantile spasms, something that you’d miss if you took your eyes off of her for more than a few seconds. The issue was at the time of these seizures, she also began to retract her tongue, which began blocking her airway and causing her to de-sat. This was a bad sign, in that she was getting weaker and her disease could be rapidly progressing. Keira could no longer continually protect her own airway.
An important decision, the most important decision of our lives at that point, was in front of us. Do we opt for a tracheostomy, which would prolong her life, or transit Keira to hospice care and take her home. Believe it or not, the decision was not an easy one. On one hand, we didn’t want Keira to suffer or to prolong any pain, but on the other hand, we were not ready to let go. We weren’t ready to say goodbye, and as I said before, we wanted to give Keira the best chance at life that she could get. So we opted for a tracheostomy.
Keira spent another month and a half in the NICU while we fought the state of Virginia for home nursing care, a fight we ultimately won. The nursing care covered both girls, with Ava receiving 8 hours of home nursing every day, and Keira receiving 16 hours a day. Things were going very well, but my wife and I were becoming increasingly uncomfortable. We realized, living 300+ miles away from all of our family and support systems, that if something were to happen to either girl, we’d have no one close to us to rely on. We had another difficult decision to make.
I resigned my position with the Dept of Defense and took a job as a Research Compliance Officer at a VA medical center close to my family. This job allowed me to work within 15 minutes of my hometown, where we eventually bought a house. This move, however, certainly had its drawbacks. Perhaps the biggest was that once we crossed Virginia’s boarders, we essentially lost the Medicaid services, including all home nursing services. We were a little misled, as my wife had been told by Medicaid in our home state that both girls would still be covered. Come to find out, that wasn’t true, and within 3 weeks of being home, Keira was rushed to Yale Children’s hospital with an increase in seizures and respiratory distress.
Keira actually stabilized within a day of being in the PICU and was subsequently sent to Yale’s Pediatric Respiratory Care unit (PRCU). That started what turned into a 9 month hospital stay. Approximately 1 week after Keira’s admission, Ava essentially followed with the same symptoms. She was rushed to Bridgeport Hospital in severe respiratory distress. She was ultimately transported to the Yale PICU. Her course in the hospital, while ultimately shorter, brought on more difficult decisions.
We now faced a situation where we had both girls in the hospital at the exact same time. The next month and a half came with many ups, mainly for Ava, and many downs. Ava stabilized fairly quickly and left the PICU within 4 days. She, like Keira, was sent to the PRCU for further observation and recovery. She remained stable, as did Keira; however, our new fight was just beginning. With Keira being trached and requiring full ventilator support (in a CPAP mode), Yale would not let her go home without a minimum of 18 hours of nursing support every day.
Meeting after meeting with the Yale care coordinators and state Medicaid representatives yielded no results. At the time, Connecticut’s only Medicaid-waiver option was the Katie Beckett waiver, which had a 3 year waiting list. One option presented to us was called a Medicaid spend-down, where we’d be required to spend up to $28K out of pocket before we’d be approved for nursing services. This was something we really started to look into, but knew that we’d never be able to do. So the fight continued.
Ava became stable enough, after about 6 weeks, to come home. She was on 2 liters of oxygen at the time but otherwise had no other reason to stay in the hospital. In hindsight, my wife and I both believe we took her home too soon. She had never needed oxygen at home before, and within 2 weeks of being home, her condition worsened. Ava developed fevers, rapid heart rates and low oxygen saturations (90-93), despite being on oxygen as high as 5 liters. On Halloween night 2009, we brought Ava back to the hospital for the final time.
Not much changed with Keira’s fight over the next 7 weeks. We continued to have meetings, continued to pursue options with nothing panning out. Ava’s fight, however, quickly became a roller coaster ride. She would be stable enough at one point to be moved out of the PICU, but within 3 days was right back in the ICU. Rewinding a bit, when Ava was first released from the hospital in the middle of October, we noticed that she had a small soft spot on the back of her skull. Ava was 2 at the time, so we weren’t thinking that it was her skull not being fused correctly. We mentioned this to the doctors at the time but they didn’t seem too concerned, and it didn’t seem to effect Ava, so my wife and I weren’t as concerned. Then one night in the end of November, we received a call around 1am from one of the floor residents who became alarmed at the soft spot on the back of her head. A CT scan was ordered, which showed lesions all over her brain. This brought in a whole new set of doctors on to her team.
Ava was now back in the PICU. She was requiring several liters of high-flow oxygen via nasal canula and was being worked up for the lesions found in her brain. She was also seeing a pediatric hematologist/oncologist, as they were suspecting that these lesions could be a form of cancer. Based on the softspot on the back of her skull, the doctors had a suspicion, and sent her for a bone scan and other tests. Those tests showed that she also had lesions on some of her bones. With the new information, the hematologist stated she likely had Langerhans Cell Histocytosis (LCH), a very rare blood disorder treated typically with chemotherapy. This was considered a secondary diagnosis for her, with WWS being her primary. The only way to confirm LCH was to do a brain biopsy, requiring a trip to the Operating Room. At the time, it was determined that Ava was not stable enough with her respiratory status to tolerate this procedure, so it was put on hold.
Ava started to rapidly deteriorate from there. She was eventually diagnosed with para influenza and bacterial pneumonia. She needed frequent suctioning, was on the highest setting of high-flow oxygen. The PICU team was having a lot of trouble keeping up with her pneumonia. We were running out of options with Ava and had to make some choices. One of the options presented to us was to try Ava on high doses of steroids, in the hopes that it would help her lungs heal. The other options were to place a tracheostomy, which among other things would allow direct access to her airway for deeper suctioning; and finally, our last option was to transit Ava to comfort care. The decision at that time was an easy one. By giving us those options, the PICU team seemed to be giving us indications that they thought Ava was still fighting and had a chance for recovery.
Our decision was to opt for the high doses of prednisone over the course of 3-4 days to see how she would do. It would give my wife and I a few days to talk about the next step. As the next few days progressed, Ava started to show some improvement. They were able to bring her oxygen requirements down a bit, and we were hopeful that things would slowly get better. We believed Ava was going to get better. With all this in mind, my wife and I opted for tracheostomy surgery which would give her a better chance to recover but also place her in a state of limbo similar to Keira’s in terms of getting home nursing care.
My wife and I met with the ENT doctors regarding Ava’s tracheostomy on Keira’s 1st birthday, 12/22/09. The consent forms were signed and surgery was scheduled for the morning of Christmas Eve. After a brief meeting with the doctors, we went to Keira’s room for a birthday celebration before heading home. The next morning we kept our usual routine. I talked to the night nurse before she left in the morning and she reported that Ava had a good night. I felt that this day would be a good day and Ava would get some much needed rest as she was being prepared for surgery the next day.
As I’ve said to many people, Ava must have had other plans. About two hours into the next nursing shift, Ava started to take a turn for the worse. Her oxygen requirements skyrocketed; her blood pressures were out of control and she spiked a very high fever. Ava was put on bipap, and we were told that if she didn’t start to show improvement within a few hours then she would likely be intubated. We knew what this meant. If she was intubated, it was highly unlikely she would be able to be successfully extubated. Needless to say, Ava’s trach surgery was postponed. With work only about 3 minutes from the hospital, and me having just started there two weeks prior, I headed into work for a few hours with the plan to come back to sit with Ava and also have another meeting with state representatives regarding Keira’s Medicaid application.
Just prior to me leaving to return to Yale, I received a phone call from the PICU resident saying that Ava was continuing to decline and that she had been intubated. This was devastating news, but my wife and I weren’t quite ready to give up the fight. We instructed the doctors to do whatever they needed to do to stabilize her. I told them that after meeting with the Medicaid team that I would go home for a quick dinner and then return later on to spend the night with Ava. She was a little better when I left. Little did I know that my wife and I would be back up there much quicker than I thought.
Less than an hour after returning home, we received a phone call stating that Ava was dramatically worse. Her temperature was 105, she was on maximum ventilator settings and nothing was helping her blood pressure. Not even the maximum allowed dose of dopamine. We raced back up to Yale with our hearts beating what seemed like a million beats per minute. Our legs were rubbery and it was difficult for us to even talk. We weren’t sure we were ready for this, but as soon as we laid eyes on Ava, saw the number of people around her trying to make her better and heard all the beeping from the alarms, we knew we only had one decision we could make. It was a decision that we knew deep down in our hearts we’d ultimately have to make, but that didn’t make it any easier.
We decided it was time to give Ava back to God. There was nothing more we, nor anyone else, could do for her. We called in our family, some representatives from our church and said goodbye to our little princess, two days before Christmas. Ava Rose passed away at 10:17pm on 12/23/2009. We got to spend almost 3 years with our princess, but knew that, despite her being gone, the battle she and her sister fought simultaneously, was far from over.
Only two hours after Ava’s funeral, my wife and I were back up at Yale working harder than ever to get Keira home. This fight, which started in September of 2009, continued for several months. It wasn’t until the spring of 2010, following a fundraiser with media coverage, that the state of Connecticut authorized a waiver, at the time for Keira only, under a program called Money follows the Person. This is a program that had only been used for adult patients in the past and is meant to keep chronically ill or handicapped persons in the community. This was a major victory for Keira and our family, as it would get the insurance coverage we needed and also authorized 23 hours of home nursing coverage each day for Keira. Once all that was in place and further training regarding Keira’s care was completed, we were able to bring her home!
In June of 2010, we brought Keira home. It was around this time that I began speaking frequently with a person who has helped me tremendously, someone who I consider a friend, Dr. Anne Rutkowski from Cure CMD. She had introduced me to Cure CMD following Ava’s death and we continued to correspond as my family fought to bring Keira home. Talking with Anne, and especially attending my first Cure CMD family conference, opened new doors for my family in our fight for Keira and others affected by Walker Warburg Syndrome.
At this conference, which I highly recommend for anyone who has a CMD or their family members, I got to meet experts, those conducting research, and almost as important, I got to see the latest medical equipment in use in a home setting. This included equipment like the Trilogy ventilator, the cough assist and the chest vest, none of which I had ever been made aware of by Keira or Ava’s treating physicians. With all this new “ammunition” and the support of those expert physicians in attendance, I was able to get Keira all the equipment I just mentioned. This is something I thoroughly believe in, along with the tremendous help of her home nurses, which kept Keira hospitalization-free for almost 4 years. That is pretty much unheard of with any child with CMD, not to mention someone suffering from the most severe form of it.
Probably the most important thing that came away from this first conference was the building of both a personal and professional relationship with the Cure CMD team. After the conference, Anne Rutkowski approached me with an idea that, one day, will hopefully be a huge factor when, not IF, a cure for the Congenital Muscle Diseases are found. Because I have a background in clinical research, specifically in the regulatory world of clinical research, Anne had asked me to take the lead on a new project called the Cure CMD Tissue Repository (CMD-TR). This project, which ultimately took almost 2 full years to get off the ground, was ultimately approved at the Medical College of Wisconsin, under the direction of Dr. Mike Lawlor and Ms. Stacey Cossette, and supported by Cure CMD and other organizations.
With the CMD-TR, patients with a congenital muscle disease and their families have the option of donating tissue for research into the repository. Then, scientists who are interested in the various CMDs would be able to request specific tissue, allowing them to have actual human tissue from affected human patients instead of relying on animal-based studies alone. Patients and families can donate tissue in three ways. The easiest way is to have left-over muscle biopsy tissue transferred to the CMD-TR. Another way would be during a routine, previously-scheduled surgery, where surgeons can collect spare tissue or tissue that would normally be discarded and send it to the CMD-TR.
Another method of donating to the tissue repository would be during autopsy. This method, without question, is the most difficult for family members to think about, and is something that is often not thought about until it is too late. When Ava passed away, she was not a viable candidate for organ donation because she was septic at the time of her death, and a full autopsy would not prove anything as we knew what the cause of death was. Also, I had never spoken or heard of Cure CMD at that point, and certainly knew nothing about any repository.
The next four years of Keira’s life were relatively uneventful. She had two, maybe three quick trips to the emergency room for seizures, or other small issues, and one pre-planned admission to switch her from an LTV ventilator to the much smaller and quieter Trilogy vent, but I don’t count that as an admission because it was planned. She had obtained all the equipment that she needed, making her bedroom at home look like a mini ICU room. Then in January of 2014 things began to change.
One evening in mid-January, 2014, I came home from work and found Keira rather unresponsive with a low body temperature. We called 911 after attempting to bring it up on our own, and she was rushed to Yale. Keira recovered from this quite quickly, spending two weeks in the hospital as the doctors tried to track down any possible infection. Finally after several workups, she was determined to be free of any bacterial infection and was diagnosed as having a viral infection. She came home and resumed her day-to-day routine.
A second hospitalization followed shortly there-after due to trach wounds that were caused by the hospital. Our trach care protocol vs Yale’s protocol are a little different. At home, either we or her home nurses did trach care, to include tie changes, every 8 hours or less. In 5+ years, Keira never developed any trach wounds. After about almost two weeks off her home protocol, while inpatient, she developed these wounds. She needed antibiotics because the wounds, despite frequent cleaning and wound care at home, became infected. I got nervous that this was going to turn into another long hospitalization but agreed to admit her for 24 hours of IV antibiotics. The doctors knew us and trusted us, and we were able to convince them to release her after 24 hours on IV antibiotics if the cultures didn’t grow anything. We were discharged the next evening with a regimen of new antibiotics and more frequent trach care.
This was now the second hospitalization in less than a month, with no prior hospitalizations in almost 4 years. My wife and I began to talk more about the progression of Keira’s disease and what it might look like, and felt as if “the other shoe was beginning to drop.” We felt like Keira was progressing but didn’t want to discuss the obvious as my wife was heavily pregnant with twins. I didn’t want to bring that added stress on to her, and Keira actually remained pretty stable. That is, until May 16, 2014.
On this Friday, I woke up at 5:30 AM like I normally do to relieve the night nurse and spend some quality time with Keira before I headed to work. I came into her room with the night nurse in somewhat of a panic. She pointed out that Keira’s left upper arm was swollen, warm to the touch and hard. She still had range of motion so we weren’t assuming a fracture. The nurse had previously spoken to the agency nurse supervisor who had advised her not to wake us, and to call her pediatrician in the morning. I was not willing to do this, as I knew the pediatrician’s office didn’t open until 9, and knew we’d either have to wait until late in the day for an appointment or be sent to the emergency room. Thinking Keira had a cellulitis or osteomyelitis, I took her to the urgent care clinic in town which opened at 8am.
The doctor at the urgent care clinic agreed that it could be a cellulitis, but felt it was more of an injury because of how hard the arm was. An x-ray was taken, showing Keira had a spiral fracture of the humorous. We were sent to Yale’s ER where she was worked up by the orthopedic surgeons. The work-up included numerous x-rays and scans, showing Keira had other fractures, most of them healed. It was determined that Keira was severely osteopenic, meaning she had a very low bone density. This was likely a result of the WWS and the fact that Keira is non-weight bearing, so she would be prone to fractures. Looking back, this is something I had wish we knew previously, because we could have limited some of the things she was doing, like going to school as much as she was. This, unfortunately, was not the end of her struggle.
While waiting for further workups in the ER, Keira’s blood pressure began to drop and her temperature rose to 104. Several cultures, to include blood cultures and urine cultures were taken in the hopes that they would be able to identify a source of infection. She was also started on dopamine to bring up her blood pressure and eventually transferred to the PICU while she recovered. This began her final journey with Walker Warburg Syndrome.
The next few days were somewhat uneventful. She did have other workups, to include endocrinology, but clinically she remained the same and even stabilized a bit. Then suddenly overnight Sunday into Monday, May 19th, Keira’s neurological status, already previously compromised due to her fevers and WWS, declined rapidly. She suddenly became unresponsive to all stimulation and required her ventilator settings to be increased tremendously. Justifiably worried, the PICU team ordered an emergency CT scan of her brain to see if they can determine the cause. Already up there at the time, I became very nervous. My stress level went through the roof when her nurse came running into her room and stopped all Keira’s feeds, making her completely NPO. The nurse, however, could only tell me that something of great concern was found on the CT scan.
I waited, not telling my wife who was home with our soon-to-be 3 year old son and our 9 week old twins, until I was able to speak with the PICU attending and someone from the neurosurgery team. I sat there thinking Keira either had a stroke or that her VP shunt was severely compromised. Either way, I knew, deep down inside, that our lives were about to suddenly change, again. Eventually the PICU attending and the neurosurgeon came in and told me that Keira’s hydrocephalus had suddenly gotten out of control, likely due to a sudden and catastrophic malfunction of her shunt. Her brain was also beginning to herniate.
I was given our options and then I proceeded to call my wife. The options given to us were to do a full shunt revision/replacement or to place an Intracranial Pressure (ICP) Monitor and a drain to remove the increased cerebrospinal fluid (CSF) while also monitoring the pressure in her brain. That option would also buy us some time to discuss whether to proceed with a shunt revision. After discussing with my wife, we opted for the ICP monitor and drain and would watch her over the next week to see if she recovered. The neurosurgeon told us that you should start to see improvement within 12-18 hours after that procedure. If not, you would be unlikely to see improvement. So again, just like every other admission with Ava and Keira, we were in a wait and see mode.
The rest of the day was uneventful, however, Keira’s pressures didn’t really improve and we began to see a decrease in her blood pressure and a slight decrease in her heart rate. Alarmed, we requested a meeting with the PICU attending to discuss Keira’s current management and our wishes for her. At this meeting, the doctor told us that they were starting to worry about the lack of improvement in her brain pressure, and the fact that Keira was peeing, a lot. The increase in urine output is a bad sign in brain-injury patients as it means that the area of her brain where this bodily function is controlled is under extreme duress and likely dying. The attending also told us that if we continued to see a decline in her blood pressure and heart rate, that death was not far behind. We were now at a crossroads, and forced, again, to make a very difficult decision.
My wife and I spoke for a few hours about Keira’s life up to this point, and how her quality of life was before this admission, and what it would be like after this admission. We knew that with her being prone to fractures, that she would not be able to do any of the things she used to do, like go to school or go on walks with her family and nurses. We knew that even if a shunt revision improved her neurological status, which based on previous 18 hours an improvement wasn’t likely, that she’d be even more bedridden.
We called another meeting with the attending and told her we wanted to take Keira home and make her comfortable, and that if it was her time to go, that she would pass away at home surrounded by family and friends. The process of getting her home was put in motion, but, like Ava, Keira had other plans. We started to see signs that even if we were to get her out of the hospital, she likely wouldn’t have survived the trip home. Her brain pressures were actually increasing, and the ventilator was now doing all of the breathing for Keira. She was completely unresponsive, and was given a Glasgow Coma Scale of 3, which is the lowest rating. While not brain dead, we knew Keira was slipping away from us, and ultimately decided to withdraw care while still at the hospital.
In the discussions with the PICU attending, I made it clear to hear that I wanted a limited autopsy, with tissue, muscle and organ samples collected to be sent to the CMD-TR. I contacted Stacy Cossette and put her in touch with the PICU attending. Stacy and I, although I was intimately familiar with the protocol and the consent form, went through the consent process very thoroughly. The PICU attending put Ms. Cossette in touch with the pathology department who would be collecting the tissue for donation. We were also given the opportunity to donate Keira’s corneas and heart valves which could be used in transplant for other children.
Keira’s last moments were spent surrounded by the love and presence of her family, several of her home nurses, and some PICU nurses whom we have grown to know and love as part of our own family. Keira was a hero and a true fighter to many people, and knowing that her donations for transplant and to the tissue repository were going to occur, made her a hero in the eyes of many others, most of whom had only followed her journey through my writings on Facebook. Keira passed away peacefully at 4:58pm on Tuesday, May 20th. We spent another hour with her after her passing, and then handed her over to the team who would begin the process of tissue and organ donation. Knowing what to expect, one through my involvement with the creation of the CMD-TR, and two, through speaking with Stacy, Anne Rutkowski, and the PICU attending, I was absolutely comfortable and confident that we made the best possible decision for Keira.
There are several important things to highlight in our journey with Ava and Keira. 1) Don’t be afraid to do your own research. Many of the CMDs are extremely rare, and the likelihood that your physicians will have seen a CMD patient are minimal. 2) Trust your own instincts. Because these physicians have likely not seen a CMD patient, they probably will not know the best way to treat them. 3) Let your child show you the way. With Ava and Keira, we always told ourselves that we would not stop fighting until they showed us they had no fight left in them. That allowed us to be as proactive in their care as we could, and kept them home with us probably much longer than they should have been.
For me the most important part of the journey was knowing that we would be able to help multiple people with the decision of donating Keira’s tissues to the CMD-TR. Not knowing how many patients with CMDs are truly out there will make future research into these diseases very difficult. But donating tissue samples to the CMD-TR and registering your family in the CMD International Registry (CMDIR), you can help achieve what every patient, parent, and family member wants, and that is to find a treatment and a cure for the Congenital Muscle Diseases.
For more information on the CMDIR, please go to www.CMDIR.org.
For more information on the CMD Tissue Repository (CMD-TR), please contact Stacy Cossette:
Stacy Cossette, MS
Clinical Research Coordinator
Division of Pediatric Pathology
Medical College of Wisconsin
8701 Watertown Plank Rd
Milwaukee, WI 53226