25 July 1996 – 5 November 2004
We truly believe information is the key to the survival of our children and in fact if it wasn’t for the early information we received from people like the Scoggin’s and Dr. Gail Herman, we would not have been blessed with the eight years we had with our Patrick.
Patrick’s touch, his gentle manner, his loving smile, and his unwavering strength and inspiration are gone now and we miss him so much but his true gift still remains with us and we hope that the information about his and our life with him, will continue to be a gift to others who still fight for the lives of their children.
Our first child Molly was born at 31 weeks in November of 1994, two months early because mom had pre-eclampsia. Molly was healthy and just needed time to grow. Like anyone having their first child two months early and not being able to bring that child home for eight weeks, the experience was very traumatic.
Looking back we see that this time really was a warm up for what was to come. We were grateful to have some insight into what happens when your baby is born pre-term. Molly is now a beautiful 15 year old young lady who continues to be a wonderful daughter and sister and makes us proud every day.
In July of 1996 our son Patrick Michael Bowers II came early as well, at 32 weeks. Mom knew that she had decreased fetal movement and an ultrasound showed polyhydramnious. It also showed Patrick was in trouble and had to be delivered emergently. We were fortunate that Patrick was delivered at the same hospital as Molly (Uconn’s John Dempsey Hospital Farmington, CT). Initially doctors thought that Patrick might be suffering from a cleft palate and couldn’t swallow fluid causing him to be in distress but that was not the case. Patrick was delivered in minutes and wasn’t breathing. He was blue and he didn’t make a sound. He needed intubation at birth and doctors referred to him as having low muscle tone or as being ‘a floppy baby’.
From the moment of birth Patrick required ventilation and he was fed with a nasogastric tube because he was too weak to swallow. He also had many of the physical features related to XLMTM including an elongated face, droopy eye lids, high arched pallet, and he did not blink very often. It was also noted that his testes were undescended or absent.
Right from the start doctors were uncertain what was causing Patrick’s condition which in turn caused us to receive conflicting information from doctors, some of whom seemed just as frustrated as we were in not being able to put a name to the disease. All believed that his disease was muscle related but doctors differed in their opinion as to whether or not it was central brain related, pathway related, or in the muscle itself. Many suggested that we might never know what Patrick suffered from as there are so many more unknown diseases than known and some immediately questioned what his quality of life would be.
At one point during what seemed like an endless battery of tests an MRI showed Patrick had cerebral dysgenesis (smaller brain parts). A Neurologist who was to interpret the MRI results entered a meeting with us after four days of canceling, stating he had a plane to catch and then proceeded to tell us that based on what he had observed from the same MRI, Patrick’s quality of life would be worse than the worst down syndrome child we could imagine and that we should consider removing his life support. Fortunately we had seen so much more from Patrick and we were not alone as other doctors and nurses disagreed with that neurologist. We continued forward and in October of 1996 Patrick had grown enough to have a muscle biopsy which showed Patrick had X-Linked Myotubular Myopathy. Although we were happy to have a diagnosis, it was short lived when we learned how rare XLMTM is and his doctors told us that based on what was known about XLMTM, they believed Patrick had a life expectancy of nine months to a year.
Patrick spent another month at UCONN and he continued to show us and medical staff that his cognitive abilities were in tact and proved that he deserved every chance to survive. Although attempts were made at weaning Patrick off of the ventilator and oxygen it was determined early on that this was not possible and in fact he remained ventilator dependent and on oxygen his entire life. It was also determined that he did not have the ability to swallow. As a result in mid October of 1996 Patrick received a G-tube with a 270 degree fundoplacation (to combat reflux as he had already experienced (aspirate pneumonia) and a tracheotomy during the same operation.
Although all of this was very scary to us the trach (a Pedi. Shiley) was a good thing for Patrick because it allowed his airway to be better managed and it also lessoned the copious amounts of secretions and constant suctioning that was being done. Patrick had regular chest PT and an assortment of medications that helped with his respiratory management that included Albuterol, Atrovent, Flovent, and Robinol (only as a last resort as it caused mucus plugs). At one point they even began giving him gamaglobulin infusions to combat RSV as his immune system was compromised.
In November of 1996, Patrick was moved to Yale’s Pediatric Hospital in New Haven, CT in order to fine tune his respiratory needs. There are two Pediatric Hospitals in Connecticut and the main reason we chose Yale was because our pediatricians were connected with Yale and had agreed early on to help coordinate Patrick’s care. He spent one month in Yale during which time it was determined by his respiratory team that ventilating and oxygenating Patrick on the high end allowed him more energy for living which was contrary to their traditional approach, but most effective for him. He was also seen by a new neurologist that remained with him for the rest of his life. She stated that Patrick appeared to have normal brain function and in fact when she reviewed the MRI taken at UCONN, she believed that his cerebral dysgenesis was related to him being simply premature.
It was during our time at Yale that we first met with genetic counselors and in 1998 linkage testing was conducted through the University of Chicago with blood taken from Patrick, Mom, Patrick’s maternal grandmother, and maternal great grandmother which showed all females were carriers as well as where the mutation for XLMTM was for our family (Mutation detected at T56G exon 2). This testing revealed that Patrick’s mutation T56G was seen in only Patrick out 62 patients analyzed up to that point in time and indicated a severe form of MTM. This information was bittersweet in that it put to rest some questions as to why Patrick’s maternal grandmother had lost two of her four sons and Patrick’s maternal great grandmother had lost five of her nine sons shortly after their births.
After both mom and dad spent twenty four hour periods taking care of Patrick alone at Yale, on December 17th, 1996 Patrick came home for the first time. Family and friends had helped ready our home and Patrick’s room on the first floor of our home was quickly transformed into a mini intensive care. Although we had to fight long and hard and were finally approved for twenty four hour nursing care, within two days the two weeks worth of promised nurses disappeared and we were alone for almost two solid weeks. Anyone who has gone through this knows that the newness of having to care for a child who is technology dependent and needs 24 hour care can be terrifying and until Patrick’s death those weeks seemed like the loneliest time of our lives. But we got through it including a bout of pneumonia for Patrick and that time proved to be a prelude to what was to come for the next eight years.
Although early on finding qualified and competent homecare nursing was difficult we were fortunate to have some very special nurses caring for our son in particular during the last couple years of his life. We regularly averaged 80 hours a week without nursing coverage which was toughest for the first three years as he averaged 2.5 infections a month up until our own knowledge of his equipment determined that he had a humidifier that was inadequate for his needs and as soon as it changed he had less infections.
Over time Patrick developed several other known secondary medical issues connected with XLMTM. These included gall stones which caused pain on occasion and liver disease which caused issues with him processing medications and also caused a build up of bile salts (bile acids) which led to bouts of uncontrollable itching.
He did experience normal clotting times, however on occasion during medical procedures it was difficult to control his bleeding which is why we followed recommendations by Dr. Gail Herman and the gall stones were not removed and a liver biopsy was never done. Patrick’s G.I. issues resulted in him consuming only Elecare formula which is an amino acid based medical food so that his body would not have to break down proteins in regular formula. He was never able to eat orally. The Elecare seemed to help with the itching and seemed to lesson the production of gall stones. We used Reglan for a motility agent and Miralax to help with bowel movements. In his younger years 3 – 5 Patrick was able to use a commode that reclined slightly, however, he never was able to control his bodily functions. Patrick also had inner ear infections on a regular basis and tubes were put in but he later developed a build up of debris or skin sloughing in his middle ear that required us to do daily irrigation of the ears as ear infections were a constant worry. Eventually Patrick had profound hearing loss.
In regards to Patrick’s respiratory needs, he remained ventilator dependant his whole life and sometimes on as much as 15 liters of O2 when sick. To help manage his secretions because he couldn’t swallow we were aggressive with chest PT and postural drainage and when he was older we actually had a vibrating vest that helped mobilize secretions. Patrick had a lot of belly time too. That position helped his lungs aerate well. We just positioned the vent circuit off to the side. We found going to a cuffed trach (Bevona) also helped with ventilation and secretions. Patrick couldn’t handle heat so our house was kept at 63 degrees year round. Respiratory meds included in line treatments of Saline, Albuterol, Atrovent, Tobramycin, and Flovent.
Early on he did do some speaking with a Passy Muir valve but it didn’t last as he got older due to secretions and going to a cuffed trach. Patrick was wheelchair bound and was able to attain some head control and sit unsupported for about a minute at best. We did try the Carnatine and Co-Enzyme Q10 and our pediatricians felt that because there was no underlying deficiency we saw no results. He did wear braces on his feet to help correct foot drop as much as he could tolerate them. He had scoliosis, but it was not severe enough to require a brace.
The first few years fighting XLMTM were harder than we ever imagined but it is not in our hearts to be anything less than the best advocates for our children that we can be. Those years did not come easy for many reasons but we would be remiss if we did not mention what we believe was one major obstacle in the every day care of our son. Although Dad’s job as a Police Officer allowed for great insurance coverage (BCBS Century Preferred) our medical insurance company added to our pain. There are countless stories we could tell that include spending sleepless nights wondering if we were ever going to be able to bring our son home only to find out that they tried to convince us other wise because if he were placed in a hospice then their obligations would have ended for us after two months. We knew what was in our contract and what paying the premiums had earned us so we never gave in to them and they did in fact pay for the majority our son’s home care. In fact we actually won about 95 % of our battles. But we will never forget the anguish they put us through in order to get what we were entitled to. We do hope anyone in the same position keeps fighting and doesn’t give in to them as we are proof that you can win against an insurance company.
Although it is easier sometimes to dwell on what does not go your way in life and it was difficult for a lot of our family and friends to handle Patrick’s illness, we know we were blessed and believe that one of the true gift’s Patrick gave us are the people he brought into our lives. To begin with our pediatrician group consisted of four doctors that are all accomplished in their own right and in addition to their normal duties each one brought something very special and different to the table. Although we had one primary doctor who became a great friend and was in fact with us at our home when Patrick died, all regularly came to our home and proved to be invaluable advocates for our son and our family.
On average they made one house call a week during Patrick’s life, as it was often difficult for him to travel. That courtesy is not something done very often these days which is why they would be unhappy with us if that information was out on the internet, so we will leave their names out of this. In addition to the doctors there were at least 10 critical care nurses that came into our lives over Patrick’s eight years and although we had more than our share of problem home care people, the good nurses made taking care of our son a priority and gave a lot of love to our family and remain friends.
Further the school system we live in proved to be the best one could hope for in dealing with children with special needs and clearly we were fortunate to be in it. The love given to Patrick and us by his teachers, speech therapists, P.T., O.T., teachers aids, psychologist’s, and the administration enhanced the care of our son and they all were an intricate and loving part of his life. The needs of our son were always met by the people from the education team and their job went far beyond what one would expect. Under their guidance Patrick thrived and in fact at age three he tested at a six year old level and was utilizing sign language and technology to communicate. Their love is still felt today as our daughter remains in the Old Lyme School system and many of them continue to be an important part of our life.
Sometime around the age of six years old we, including his teachers and nurses, began to notice that Patrick was interacting less and seemed to be having moments where he appeared unusually exhausted. In the beginning it just seemed as though he would have moments where he would (for lack of better words) just simply check out on us with blank stares that lasted several seconds and even sometimes half a minute or longer. Incidents of discomfort began to increase and he often became upset for seemingly no reason and on occasion he would sometimes strike his own head. During that same time period Patrick had a pretty rough year and was sick often and for the most part all the people who cared for him first thought the frequency of him being ill was causing these changes in him and at some point we even had concerns that possibly heart issues were developing because of elevated heart rates on his monitors. Heart issues were quickly ruled out through tests and for the most part we and doctors recognized early on that the high heart rates were related to pain. We did not recognize his episodes as seizures initially, as they presented as ‘petite mal’ or ‘absence’ seizures. They were often followed by moments where he would get upset, which we know now was him being postictal.
Eventually he was hospitalized for a couple of weeks and the seizures were confirmed with EEG’s. They were determined to be multi focal which made it very hard to treat. An MRI in October of 2002 showed that he had thickening over a large area of his Dural Membrane and months later another showed the thickening had gone. Reasons for the thickening are still unknown to us. We are sorry to say that for Patrick the seizures did increase in numbers, in origin, and severity. We tried medications, Dilantin, Ativan and others we can’t remember but nothing seemed to work despite increasing doses. Numerous seizure specialists were consulted and examined Patrick but neurologists were unable to find out the cause and were unable to treat. Over the next year or two, the seizures seemed to level out sometimes and sometimes they seemed to increase, always up to that point they continued to be in the Petite Mal form however Patrick continued to have a decline in his cognitive abilities.
In July of 2004 Patrick had a significant increase in the seizures and a significant increase in discomfort. Changes were rapid and during a trip we had taken him on to Chincoteague, VA in which we had no nursing assistance we realized that there were changes we were unable to control or fix and Patrick’s life was coming to an end. We returned home and began further tests which showed significant changes to Patrick’s brain function and in mid October of 2004 he was admitted to Yale for more testing and an effort to control his pain. After a 24 hour EEG we were told that his brain’s electrical activity was slowing and stopping and a follow up EEG further confirmed that the changes were increasing in frequency everyday and in fact in hours. Eventually they became constant. Neurologists stated they had not really seen this before and felt that this was a progression of his XLMTM and that Patrick was dying. It took over a week to get Patrick’s pain managed through medication as his liver issues hindered the processing of medication and some traditional comfort medications such as Morphine and Valium did not work.
Eventually several medications were given together for comfort measures that included Dilaudid, Ativan, Methadone, and Demerol. After almost losing him twice in the hospital he was brought home on November 1st, 2004. Patrick died on November 5th, 2004 in his own bed while being held by his mother, with his father and sister Molly at his side. Patrick was eight years old.
It took our family about four years to get to the point where we were comfortable enough with the care of Patrick and financially stable enough to live our lives more fully through travel. Initially it began with small and cheap test trips with Patrick during time periods that we were unable to get nursing coverage and eventually our family was able to take road trips when nurses were on their vacation time. Our travels took us to Philadelphia and even on Buggy rides with the Amish in Pennsylvania, to Disney World in Florida, and to Niagara Falls in Canada, and we even made it all the way across the country to Arizona for a Christmas with grandparents on a month long trip.
Our trips were often called adventures by Mom and it was not unusual for us to draw large crowds while alarms were going off on Patrick’s vent while waiting in line for the Maid of the Mist, viewing baby panda’s at the San Diego zoo, sitting in the surf of Long Island Sound with his vent in an inflatable boat, and while watching wildlife in Chincoteague. Molly gained a life time of memories with her brother and we all lived life to the fullest. Patrick loved so much of what life has to offer and some of the things he enjoyed most included pulling his sister’s hair, having a catch with a ball, swimming, visiting the aquarium, woman with dark hair, grabbing his mother and pulling her towards him for a kiss or to be tickled, the characters of Toy Story, Winnie the Pooh, kisses from dad every time he got picked up, other children, and caressing the arms of those he cared for. We our so grateful for our time with Patrick and the gifts he gave to us that still include relationships with many of the care givers, teachers, and friends he touched. We hope that Patrick’s gift will be far reaching from the research studies he has contributed to and just as importantly hope that we can help someone else in fighting this disease.
As we submit this to the Information Point Patrick’s sister, Molly is now fifteen and is just about to wake her two year old sister Sophie up from a nap. Sophie who we learned of completely by surprise on November 5th, 2007, (the third anniversary of Patrick’s death) is clearly another gift from Patrick. Sophie was conceived while an IUD was being utilized and has been a heaven sent addition to our family.
Even though Sophie did not spend time with Patrick she will know him and we can see some of him through her everyday.
Sophie is too young to know this right now but Molly does know that she may be a carrier of this disease and with the same grace she had with her brother she still makes her sister laugh like no one else. It really is for both of them and all that still suffer that, we hope all the people who support and who are involved in the research of XLMTM and other related diseases continue their honorable work and don’t give up until this disease is gone for all of us.
The Bowers Family
Old Lyme, CT USA