Emma Frances Dalton was born on September 22nd, 2010. Emma was born to a wealth of love from her parents, family and friends. In the hospital, Emma lost about 11% of her birth weight, and took over a month to regain it. She had difficulty with her feeds from birth, and we immediately began supplementing with formula. We were at the pediatrician’s office weekly for weight checks, and she gained, but ever so slightly. As the months passed, we started to grow concerned that Emma was missing her milestones.
Emma started daycare the first week of January 2011, and immediately got sick. She just couldn’t seem to shake the cold, and on Valentine’s Day the cold turned into a cough. At this point Emma worsened. She would wake at night because she couldn’t handle the secretions. She would sleep on our shoulders, since that seemed to help her. She had many sick visits, but we were always told the same thing. Her oxygen levels always appeared great, and her lungs were always clear and we were sent home. Being new parents we weren’t sure what was going on. On February 18th, at her 5 month appointment, we again questioned her pediatrician asking if she was sure Emma was ok. At that time we were told not to compare her to other babies.
Three days later, on February 21st, she was rushed to Milford Regional Hospital because of an ALTE (Acute Life Threatening Event). She was feeding on a bottle, stopped breathing and turned blue. She began breathing again, but did the same thing again about 15 minutes later. It was suggested that she go to Children’s Hospital Boston to be monitored overnight.
Once at CHB, The doctors were very concerned with her inability to gain weight and diagnosed her initially with a failure to thrive. They wanted to keep her inpatient to monitor her caloric intake and weight. They noticed Emma was not tracking very well and seemed to exhibit some neurological concerns. There was also concern about her three Haemangiomas. If one was growing internally it may be blocking her airway among other things. An MRI was ordered for her head and neck, but showed nothing. She also had an EEG. We were told initially that all of her tests were normal, and had breathed a sigh of relief. The nutrition team placed her on a higher caloric formula, and Emma began to gain weight. Her lab work showed that her lactic acid levels were elevated. This prompted the doctors to go back to the MRI and specifically look at one sequence of the test (MR Spectrometry). It is here that they noticed necrotizing lesions on the brain. At this point we had a team meeting with Neurology, Metabolics and her General Pediatric team. The doctors were pretty confident that she had a Mitochondrial Disorder, and they wanted to perform a spinal tap and a muscle biopsy right away. It was so tough to see Emma have to go through this. It was decided that while Emma was under anesthesia for the muscle biopsy, it made sense for them to do an Echocardiogram. Emma came out of surgery with a great big smile. The cardiologist spoke with us later that afternoon and thought for sure he was going to find something but didn’t. Again, we were relieved.
We were sent home on March 5th, two weeks after admittance, to wait for the results of the muscle biopsy/spinal tap (whichever came first). We were told not to look anything up because no one was sure which type she had and along what spectrum. We lived in a bubble over the next month waiting for that phone to ring. While in the hospital, we immediately found a new pediatrician. We were extremely disappointed that so many things were missed. I did not expect this Pediatrician to diagnose a rare disease, but could not believe she let Emma go so long without any intervention in regards to her failure to thrive.
We saw drastic changes in Emma in the weeks following, and she continued to soar with the help of Early Intervention and the caloric increase in her formula. She had finally found her hands, was putting her fist in her mouth, and was kicking. She had begun to chat for long stretches, and smile on a consistent basis. She had also put on almost 3 lbs. in a few weeks! We were feeling pretty confident at this point, that whatever this was would be mild.
On March 31st Emma began to exhibit some erratic eye movement. She was in the middle of being assessed by Perkins School for the Blind. They had noticed a Strabismus, but now she was staring a lot and it seemed like she had very little control of her eyes. The next morning, Emma woke up with a cough and wasn’t eating very well. We immediately began to panic because of where the last illness took us, and brought her into the pediatrician’s office. She noticed that Emma still had her ear infection, so she prescribed Augmentin which was a little stronger than the Amoxicillin. We went through the weekend and Emma’s eating continued to decline. She stopped interacting with us and stopped talking and smiling. A few weeks prior we had realized that Emma had stopped crying. We couldn’t tell if she was hungry or in pain. In short, she wasn’t the Emma she had become since discharge on March 5th. We had a scheduled appointment with her pediatrician on April 5th, and our list of concerns was growing. The doctor sent us home and told us to wait for her phone call. At 5:00, she told us to head into the ER and we were admitted.
More tests were administered and the hospital was trying to push for her blood results from Baylor Laboratory and her muscle biopsy from the Cleveland Clinic. The doctors scheduled a 24 hour EEG and an Ophthalmology Exam. Once she started the EEG her behavior got more and more erratic. I was convinced she was having seizures, but then it seemed to get worse. She lay awake for hours, and was unable to fall asleep. She looked like she was in a vegetative state and would just stare without blinking. We were terrified.
On April 8th, a team meeting was called. The blood work came back from Baylor with a diagnosis. We were informed that Emma had Leigh’s Disease, a rare Mitochondrial Disorder, and that she was almost 100% expressed with this disorder. They had isolated one of the 26 known genes associated with disease. The prognosis was poor; in fact they told us that she had about a year to live. The earlier the onset to the disease, the more aggressive. There is also no treatment for this. The activity on the EEG was not showing seizures, instead, it was her brain slowing down. Nothing ever prepares you for the devastation of hearing those words. We had dreamed of becoming parents, and all of the joys that come with it. We were elated to find out we were pregnant and beamed when she was born. Now we were told that our time with her was limited. Our hearts were broken.
The next day, an NG tube was inserted to help with the feedings, and the administration of her vitamin cocktail. The goal was to have a gastrostomy tube placed since we knew this would be long term. Emma had begun to lose her ability to suck and swallow. We began to prepare ourselves for what life would look like at home caring for our daughter, and began our meetings with the Pediatric Advanced Care Team ( PACT) team to discuss decision making in regards to interventions, and advanced care planning. Little did we know we would need to make these decisions so soon.
On April 16th, at 7:30 a.m., Emma was resting comfortably in Nicole’s arms when her oxygen levels suddenly dropped drastically, and she coded. She was intubated in her room, and then transferred to the ICU. We were completely blindsided.
Through an MRI, the team learned that the brain stem was compromised by Emma’s illness. Due to the severity of Emma’s condition, Emma’s loved ones gathered together in her room where she was baptized. The team then extubated Emma at 7:30 p.m., and she spent the night in her parents arms. On April 17th, at 6:22 a.m., just 10 days after the team meeting, beautiful baby Emma passed away.
Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection
Each year, about 4000 children in the United States are born with a mitochondrial disease. While exact numbers of children and adults suffering from mitochondrial disease are hard to determine, we now know the disease is approaching the frequency of childhood cancers. Many people who suffer from mitochondrial disease are frequently misdiagnosed due to a lack of specialists. This is why we need your support. The United Mitochondrial Disease Foundation is the largest non-governmental funder of primary mitochondrial disease research in the world.
Please donate to the Emma Frances Dalton Research Fund and bring “Hope. Energy. Life” to everyone affected by mitochondrial disease. Through research, the medical world one day will have the resources to help parents and their children, like Emma, win the battle against mitochondrial disease.