Lauren has experienced a range of behavioural and physiological problems which have been very difficult to control or manage with confidence. Often she does not respond normally to medications and treatments. She has been hospitalised numerous times to address these problems.
CONSTIPATION: She is very susceptible to becoming constipated. Monitoring fluid intake and using laxatives and enemas has proved to be effective. A number of laxatives had no effect.
POOR MUSCLE TONE: She is a very floppy child, incapable of supporting herself. She cannot sit or roll, her head support is very poor. She tends to drop her head forward when she is supported upright. She is unable to move her legs voluntarily, they only move during muscle spasms.
MUSCLE SPASMS: She experiences muscle spasms constantly, even in her
sleep. In the past they have been noted to occur up to 40 times an
hour. These spasms are often linked to irritability and can be distressing
Lauren has had three EEG’s to determine if these muscle spasms are actually fits of an epileptic nature. The results do not show evidence of epileptic brain patterns.
FEEDING PROBLEMS: Lauren appeared to feed well from mother’s breast
milk for the first 10 months. She was reluctant to accept formula or
solids and there were concerns about her growth in general. She was
nasogastric fed to supplement her oral intake, but this proved to be
unsatisfactory and was stopped. Lauren seemed more comfortable when the
total volume of her food intake was less than 400ml per day. Feeding
consisted of numerous small feeds per day in order to reduce her
irritability. The formation of calcium oxalate crystals in her urine led
to the decision to have a gastrostomy tube inserted. This was the only way
to increase her overall fluid intake up to around 700ml per day. The
insertion of the tube has resulted in Lauren refusing to take food orally, now
all her feeds go down the tube. She has gained weight but she is more
irritable and does not tolerate the additional volume well.
GASTROESOPHAGEAL REFLUX: Barium meal studies and Milk scans have identified reflux and a Gastroscopy showed oesophagitis and a hyatus hernia. This accounted for the episodes where blood was found to be present in her stomach and occasions when she vomited up blood and blood was present in her faeces. To correct this problem, medication to reduce stomach acidity was prescribed. After a long period of varying the dosage we eventually felt that we were achieving the desired result and we no longer experience these problems with oesophagitis. A Fundoplication was performed at 4 years 10 months which should reduce the chance of gastric reflux and aspiration into the lungs. This procedure was repeated two years later after the first Fundo failed.
URINE RETENTION: To account for the frequent occurence of urinary tract infections, tests including an MCU and kidney and bladder ultrasounds were performed. These showed a residual volume of urine is present in the bladder after urination , which may account for the infections. Intermittent catheterisation was commenced in January, 1998. Unfortunatley, the frequency of the UTI’s has increased and she has since stopped emptying her bladder on her own.
LAUREN JAINE PHILLIPS D.O.B. 6 August 1995
Lauren was born, at full term on the 6th August 1995 after what appeared to be a normal pregnancy and delivery.
By 3 months of age we were concerned about her development, especially relating to vision and hearing.
We took Lauren to see the same Paediatrician who examined her in hospital after she was born. This time the Pediatrician acknowledged there was need for concern and a series of tests then followed.
Lauren was observed to have a nystagmus and a convergent squint. She was referred to a Paediatric Ophthalmologist and a diagnosis of delayed visual maturation was made. The Ophthalmologist arranged for a CT Scan to be done. This occurred at six months of age and showed basal ganglia calcification and some “matter” changes. This led to the Paediatrician diagnosing Lauren as having Cerebral Palsy. Further tests were done to determine the cause of the brain damage but all tests proved negative.
At the time her vision testing was taking place, Lauren was also referred for hearing tests. She failed her first ABR test, the Audiologist told us bluntly, there was no response and Lauren was deaf. At this stage we were shattered, what we thought was a normal, healthy child at birth is now brain damaged with Cerebral Palsy, has vision problems and is deaf. Additional intensive hearing tests revealed some responses and Lauren was fitted with hearing aids at six months of age.
We made contact with the Early Intervention Services provided by the Royal Victorian Institute for the Blind and were grateful for their support and concern as they assessed Lauren’s visual development over time. We also enrolled Lauren at Taralye where she also received excellent care and attention as her hearing was monitored. Lauren accepted her hearing aids extremely well. You couldn’t imagine our delight when it was observed that as time went by both her hearing and vision were improving to the point where Intervention Services so gratefully provided by Taralye and the RVIB were no longer needed. Her hearing aids were withdrawn at 12 months of age.
We received physiotherapy and dietary help for Lauren from the Department of Human Services. Lauren was now showing definite delayed development and microcephally. Lauren was breast fed for the first 10 months. She was reluctant to accepted even small amounts of solid food and when she did it often resulted in chronic constipation and a great deal of pain. This irritability and distress resulted in trips to hospital and District Nurses visiting to administer saline enemas. We were disappointed with the lack of support and concern shown by our Paediatrition after Cerebral Palsy was diagnosed. We felt that more investigative studies could be done to account for Lauren’s unexplained behaviour and responses. Diagnostic tests such as arranging for a MRI were said to be too difficult to organise due to long waiting lists. When cocktails of up to four laxatives were prescribed for relief of her constipation we knew it was time to seek a more caring and committed Paediatrician. Our G.P referred us immediately to our present Paediatrician whom we find extremely sympathetic, caring and supportive.
Under our first Paediatrician we were eventually referred to a Paediatric Neurologist, four months after the CT Scan. Immediately he arranged for admission to the Royal Children’s Hospital, Melbourne for investigations including a MRI Scan and EEG plus consultations with Gastroenterologists and Geneticists. Two weeks later, at the age of 10 months, we received the devastating news; the MRI showed Lauren lacked myelin in her brain.
When subsequent pathology tests were done on blood samples at the Women’s and Children’s Hospital in Adelaide, a metabolic explanation for Lauren’s myelin problem proved negative. We were left with an undiagnosed condition with no prognosis. The term Leukodystrophy was not mentioned until we had a review consultation with the Geneticist a month later. We were told that Lauren’s problem could have a genetic basis to it or it could be a one off mutation. We were none the wiser.Lauren had a follow up brain MRI scan at 18 months of age. This showed no change in the myelin from the first scan. A peripheral EMG nerve conduction study done around the same time showed nerve impulse transmission responses consistent with the presence of peripheral nerve myelination. A MRI scan of the spine at 2 years and 5 months showed myelin present in the spinal cord. So it appeared that Lauren only lacked myelin in the brain.
The initial consultation with our new Paediatrician, in July ’96, resulted in Lauren being admitted to Monash Medical Centre the next day for a nasogastric tube to be inserted. Such was her concern for Lauren’s poor growth and weight. The tube feeding was to supplement Lauren’s bottle feeds and boost her calorie and fluid intake. This proved to be a disaster. We suspected that Lauren could only tolerate a certain volume of formula each day. The additional volume provided by the nasogastric feeding was upsetting to Lauren and the tube caused irritation resulting in bleeding episodes and the vomiting of blood. We persevered with this feeding but eventually removed the tube. Lauren continued to be bottled fed a soy formula fortified with polyjoule receiving around 400mls per day which appeared to be all she could tolerate comfortably. Around this time Lauren had experienced urinary tract infections. Investigations showed that Lauren was retaining residual urine in her bladder creating an environment for bacterial growth. This problem has worsened over time to the point where we now catheterize to empty her bladder. Her ability to urinate on her own is now questionable. Unfortunatley catheterization had increased the frequency of UTI’s to the point where she has infections almost fortnightly.
We celebrated Lauren’s first birthday with mixed feelings. For the first year, we were the only ones who could nurse Lauren. She became very upset if anyone else picked her up or nursed her. Lauren can’t sit, roll, crawl, talk, she had some head control but this has deteriorated. Her muscle tone is extremely poor and she is generally floppy. Lauren does not like to be on the floor and she gets very distressed if she is left alone. A lot of the time is spent with her in our arms. She did not respond well to physiotherapy and these sessions were very distressful. When Lauren is very upset and stressed out she gets very hot and perspires excessively. Her temperature regulation is by no means normal. As a baby, she would perspire even while breast-feeding. She is clothed quite lightly even in winter, and at night she is covered only with a sheet and light blanket.
A stiffening action or muscle spasms often accompanied the irritability Lauren has experienced. At times these spasms are very distressing to Lauren and have occurred up to forty times an hour. EEG studies so far have shown no epileptic brain patterns, but as yet we have no satisfactory explanations for these spasms. We know they are distressing to Lauren so we are prepared to try any medications to reduce their intensity and frequency, provided the side effects are not too serious. The drugs prescribed so far have been used on a trial and error basis and unfortunately have produced few positive results. Her poor response to medication is one reason why we are keen to obtain as much information from other families, case studies and doctors who are more in the know about conditions such as PMD and Leukodystrophies.
An orange, crystalline discharge, which often appeared on Lauren’s nappies, was eventually analysed after a lot of questioning on our behalf. This substance proved to be calcium oxalate crystals, which form due to a lack of fluid in the body. Fortunately an ultrasound showed no kidney stones but the lack of fluid had the potential to form them in the future. Because Lauren was reluctant to take in any extra fluid orally, we made the decision to have a gastrostomy tube inserted. This occurred in April of 1997. Her daily fluid intake increased from 400 ml. to 700 ml. Her weight increased and so did her irritability, the crystals disappeared.With irritability increasing, Lauren became more reluctant to feed orally from a bottle and became more and more dependent on gastrostomy tube feeding. Eventually she ceased to accept bottle or any form of oral feeding. All food and medication was administered through the feeding tube. We felt that she was not tolerating the additional volume of fluid provided by the G.T. We suspected she was refluxing with a full stomach and was reluctant to accept food orally because of the pain she was experiencing.
From around 15 to 18 months of age Lauren was experiencing very unsettled sleeping patterns at night and so were we. We found it extremely difficult to get her to sleep and then stay asleep. We tried everything and eventually resorted to a sleep study investigation at Monash Medical Centre. Her disturbed sleeping behaviour occurred even when sedation was administered. The sleep study could not account for her irregular sleeping behaviour but it did set the wheels in motion for the use of a series of anticonvulsant drugs to try and control the frequency and intensity of her muscle spasms and so possibly improve her sleeping.
These anticonvulsant drugs have had a questionable influence on Lauren. Some appear to cause changes while others appear to have no affect. The side affects such as dribbling due to hypersalivation have now become another major problem to deal with. Lauren is sedated every night to get her to sleep. We now believe that a lot of her sleeping problems were caused by pain due to gastroesophageal reflux. There were numerous times when Lauren would vomit blood in her sleep or we would aspirate blood from her stomach first thing in the morning. Barium meal studies and a milk scan proved reflux was taking place. Eventually after a number of visits to hospital our Gastroenterologist performed a Gastroscopy and observed a badly ulcerated oesophagus and hiatus hernia. No wonder Lauren had a distressed pain like expression on her face and had more frequent spasms. The oesophagitis and refluxing has been treated with the use of medication. We did consider having a Fundoplication operation to stop the refluxing but after consulting with our gastroenterologist and a surgeon we decided against the prodedure. In addition to the prescribed medications for gastroesophageal reflux and bowel motility we started using slippery elm powder in her formula to help relieve the symptoms. This seemed to make a positive difference so we continued to use it despite scepticism from some of our doctors.
After Lauren’s second birthday we investigated a number of Early Intervention Programs in our area. We decided to enroll Lauren in the Knox Spastic Centre conductive education program. This was commenced in February 1998, but unfortunately it was more suited to cerebral palsy children who had more ability than Lauren. .At this stage Lauren was too young to enroll in an Education Department Early Intervention Program. During Term one of 1999 we withdrew from the conductive education program and enrolled Lauren in Croydon Special Developmental School’s Early Intervention Class. Lauren was accepted willingly and seemed to really enjoy the activities, the change of environment and the company of her class mates and teachers.
Twelve months after our initial consultation with the Geneticist we made an appointment for a review consultation. We were not surprised when the geneticist acknowledged the fact that he had not actively followed up on Lauren’s condition since the first visit. We informed him of all the changes that had taken place since. It was he who first used the term Leukodystrophy to classify Lauren’s condition. He also stated that Lauren could be the result of a one off spontaneous mutation or her condition could have a genetic cause and is probably autosomal recessive. This meant that if we were to have more children there could possibly be a one in four chance of conceiving another child like Lauren. If it were a spontaneous mutation then it would be a one off event and probably wouldn’t happen again. After that consultation a written report was sent to our paediatrition and neurologist actually stating that Lauren could possibly have a genetic disorder called Pelizaeus Merzbacher Disease. We were stunned by this information because the report that we received did not mention PMD but simply stated that there could be a genetic basis to her condition. Our neurologist dismissed PMD as a possible diagnosis and our paediatrition accepted his assessment, so Lauren continued to be undiagnosed.
Another twelve months went by and we made an appointment for a second opinion from another geneticist. We again cited all the changes that had taken place and questioned why DNA studies had not been done and that we were disappointed with the lack of active investigation and the poor follow up after previous consultations. Having read Lauren’s medical files, examining her and consulting with the original geneticist, her written report stated that Lauren may possibly have a particular form of PMD namely the “connatal form” but it was not possible to confirm this as genetic testing was not yet available.
We seemed to have hit a brick wall. We have been frustrated by the lack of research investigation into Lauren’s condition and the contadictory reports we were receiving. We decided to send Lauren’s medical history, MRI’s and CT scans to the United Leukodystrophy Foundation in the States for review in their Second Opinion Program. This was in June 1998. Around the same time we arranged a second opinion consultation with another neurologist. He was not able to provide a diagnosis but stated that Lauren could fit into the connatal form of PMD, but it would be difficult to make this diagnosis with current genetic testing.
Almost twelve months after we sent Lauren’s medical history to the ULF in the States, we finally received their review. They immediately dismissed PMD as a possible diagnosis due to the presence of the calcification in her basal ganglia. They then suggested Lauren may have a condition known as Aicardi-Goutieres Syndrome. In order to confirm this, tests needed to be done to measure CFS and serum levels of lymphocytes and alpha interferon. These tests were eventually done but again the results proved to be negative, so still no diagnosis. It was also suggested that Lauren may have a mitochondrial disorder, but again subsequent tests including a muscle biopsy in June, 2000 have ruled this out.
After trying to have a Nuclear Magnetic Resonance Spectroscopy for at least two years, one was eventually performed in conjunction with a brain MRI scan in May, 2000. The MRI showed a significant change in Lauren’s brain. The cerebellum and brain stem had diminished in size. These changes were significant and immediately prompted our neurologist to arrange for tests to be done to determine if these changes were linked to other recognised disorders. Serem tests were done and ruled out any Glycoprotein Deficient Syndrome. A skin biopsy was performed after she showed a poor response to an Electroretinogram (ERG) This also proved negative and ruled out Neuronal Ceroid Lipofuscinosis (NCL) as a possible diagnosis. These changes in the structure of her brain may account for Lauren’s deterioration over the last couple of years.
The NMR Spectroscopy has continued to elude us. The test performed in May, 2000 was not able to be analysed due to some problem with incompatible computer hardware and software. Twelve months later another NMR Spectroscopy was ordered. We still don’t know the exact results of the test. We were informed that the myelin that was present in the brain actually appears normal and it was suggested that the damage to Lauren’s brain may be due to a trauma like a stroke. We would like more clarification of these findings. Fortunately the brain MRI done in conjunction with the MRS showed no changes in the appearance of the brain between May, 2000 and June, 2001.
Lauren’s poor muscle tone and small size have warranted the need for special,
customized seating to provide posture support and transport. Her muscle spasms
have caused spinal curvatures. A kyphosis and very noticeable scoliosis exist
and are being monitored by an orthopedic surgeon. The curvature could worsen if
unattended and compromise her respiratory system, making breathing difficult. A
customized stroller funded by PADP was found to be unsatisfactory, but
fortunately we were able to get funding for a much better imported stroller
which provides excellent support and comfort for Lauren.
On Sunday the 20th of December ,1998 our worst fears were realised. Lauren developed pneumonia. It seemed so sudden, one minute she was well the next minute she was desperately ill. We were devastated when our doctor advised us that we may need to decide whether to ventilate Lauren if her condition worsened. Little did we know that this was the beginning of a long series of hospitalisations for aspiration pneumonia and respiratory infection. Some of these were to result in Lauren’s admission to the Intensive Care Unit of the Children’s Hospital. In June, 2000, after already spending a week in Knox Hospital with pneumonia, Lauren was transferred to the Children’s Hospital. Her condition worsened during the next week and she was admitted into Intensive Care. While there for twelve days it was shown that she was refluxing her stomach contents. We immediately decided to have a Fundoplication operation , hoping that this would stop these recurring aspiration pneumonias. The procedure was performed laparoscopically but unfortunately it interferred with the position of the gastrostomy peg. Infection developed and another admission to hospital four weeks later resulted in the gastrostomy peg being replaced with another.
As fate would have it in August, 2001 we met a consulting naturopath at our local pharmacy. This was the first time we had discussed Lauren’s problems with an alternative type of health professional. We had nothing to lose and a lot to gain if we could help Lauren with a fresh approach using complementary preventative herbal medicines and supplements. Herbal preparations were formulated to try and improve Lauren’s immune system in order to make her less susceptible to respiratory and urinary infections. Other dietary supplements were recommended to enhance her nervous system and digestive system. Over the next ten months we monitored and modified these alternate medications. During this period Lauren developed a couple of colds where she was able to cope without being hospitalised and we actually experienced a six month period without a hospital admission. This was the longest period in over three years without being in hospital. She still develops urinary tract infections but these are probably less frequent than they were in the past and are most likely caused by the catheters. The use complementary medications in conjunction with the more traditional drugs appears to have produced very positive results and we are optimistic that Lauren will benefit greatly with this approach.
In September, 2001 while Lauren was in hospital we made contact via Email with Dr. Marjo van der Knaap in Amsterdam asking if she would review Lauren’s scans and medical records in order to provide a diagnosis. Dr. van der Knaap specialises in undiagnosed white matter disorders. She proved to be a delightful person to deal with and was very receptive to our request. Within a relatively short period of time she had reviewed Lauren’s medical history and returned her findings. She was unable to provide a diagnosis but stated that all testing that was possible at this time had been done and that it may simply be a matter of time before medical science is able to provide the answers.
The frequency of hospitalisations decreased after the Fundoplication was performed but respiratory infections still occurred. Unfortunately the six month period when no hospitalisation took place was suddenly disrupted with two very unexpected admissions to hospital. Much to our horror there were a number of occasions when formula came up when Lauren was suctioned. This meant that Lauren was refluxing formula through her Fundoplication. After numerous tests were performed including a barium meal, milk scan, gastric emptying study, 24 hour pH probe and finally a Gastroscopy it was proven convincingly that the Fundoplication was no longer functioning. So two years down the track after the first Fundo the procedure is repeated but this time it had to be done by open surgery technique. We were hoping that this would solve the problem of gastric refluxing leading to aspiration pneumonia.
Within a couple of months we were back in hospital with another respiratory infection and a month later we were back again. But this admission was different. Lauren was transferred from the ward to ICU in the middle of the night with respiratory distress. Blood gases showed extremely high levels of carbon dioxide and a low pH. We were strongly advised by the doctors that Lauren needed to be intubated and connected to a ventilator. We reluctantly agreed to this because appearance wise she didn’t seem to be in too much distress. We were very relieved when she responded well to being intubated and was successfully extubated a few hours later.
Her recovery in ICU was very slow this time, not at all like previous admissions. She bounced up and down between ICU and the ward a number of times, there was definitely something not quite right. After more incidents of formula being suctioned up it was apparent that Lauren’s muscle spasms were so strong that they were responsible for her stomach contents being forced up through the fundoplication. We decided to change her feeding routine to take pressure off her stomach. Bolus feeds were replaced with a combination of smaller bolus feeds and pump feeding over a longer period of time.
Another story has been unfolding behind everything that has been happening to Lauren. We wanted to have another child but we weren't prepared to take the risk and conceive another child with Lauren's problems. A number of doctors have said they suspect Lauren's condition is autosomal recessive and there could be a one in four chance of having a child with the same condition. We decided to use IVF technology with the use of donor sperm to avoid any chance of repeating what we have been through with Lauren. After three long years of hope, anguish and frustration we were finally successful in achieving our goal. Carolyn fell pregnant and our precious baby boy, Daniel was born on 24th. May, 2002. He is healthy and well, very alert and active. He is giving us much pleasure and is adding a new perspective our lives. Lauren is getting aquainted with her new baby brother and appears to enjoy his company.
SLEEPING PROBLEMS: For a long period of time, from about 15 mths of
age, Lauren was having problems sleeping. It was very difficult to
get her to sleep and keep her asleep. After trying a number of strategies
and undertaking a monitored sleep study overnight, we have resorted to using a
variety of drugs to assist with sleeping. She is currently sedated of an
evening with a combination of Chloral Hydrate and Vallergin
MEDICATION: Often medication prescribed for Lauren’s problems has been a trial and error excercise.
Constipation. Past medications not effective - Coloxyl, Maltogen,
Cisapride (Prepulsid), Granacol,
Currently on –Coloxyl with senna, prune juice and microlax enemas
Muscle Spasms. Past medications not effective – Clonazapam,
Baclofen, Epilim, Clobazam, Phenobarbitone,
Sabril (Vigabitrin), largactil.
Currently on – Clobazam and baclofen
Gastric Reflux. Past medications not effective - Zantac (Ranitidine).
Mylanta, Prepulsid (Cisapride),
Currently on - Losec (Omeprazole)
Salivation. Past medication not effective – Benzhexol (Artane), Cogentin (Benztropine), Glycopyrolate
Currently on - nothing.
Past medications not effective - Phenobarbitone, Phenergan and
Currently on - Chloral Hydrate, Vallergin Forte
Pain relief and Irritability. If required Panadol or Painstop.
GENERAL BEHAVIOUR: Lauren often frets if left alone and constantly seeks the comfort of mum and dad or other carers. She prefers to be nursed in someones arms and is not really interested in playing with toys. She does not like to lie down on her side, back or front, so very little time , if any, is spent on the floor. It is possible to get her to smile and sometimes the most insignificant actions can make her laugh. She likes to go for walks in her stroller or just move around being carried in someones arms. She is very aware of what is happening around her and likes to watch others as they move around her .