Ethan’s Story

Ethan Goodwin, Trisomy 2p duplication, 8/27/2008, Brisbane, QLD, Australia

SAMSUNGI’ll start with my  pregnancy which was reasonably normal. I had severe morning sickness in the beginning and went from 53 kilograms down to 48 in the first 12 weeks, however once the morning sickness went away I ended up gaining alot of weight quite quickly. By the time I was full term I had gained approximately 30 kilos and was sitting at 79 kilograms.
I had three ultrasounds during my pregnancy. The first showed that I had Placenta Praevia, however by the second scan my placenta had already moved itself and was no longer a concern. All three ultrasounds showed baby to be normal in every way that an ultrasound can determine. He was growing at a normal rate and had everything where it should be.
I was induced into labour a week after my due date because of high blood pressure and severe fluid retention due to mild pre eclampsia.
Ethan Munro Goodwin was born at 5.30 pm on Wednesday the 27th of August 2008 after what I would call a fairly traumatic labour.
As  I was  induced my contractions came on hard and fast with no room for a breather and within a few hours the pushing stage had arrived. This stage however was awful as Ethan appeared to be ‘rocking’ in the birth canal with each push instead of making progress towards the world. My pushing stage lasted approximately four hours and eventually the vacuum had to be used to assist Ethan out.
His head was badly bruised after the use of the vacuum and he appeared to be in great pain. The pediatrician came in to check him over and noticed that Ethans testicles were larger than they should be and informed my husband and myself that Ethan had an Inguenal Hernia that would have to be operated on.
Ethan was a very clingly newborn, would only sleep when I was holding him and cried 98 percent of the time. He struggled greatly to latch onto the breast properly and appeared to be too weak to suck sufficiently.
He was born 8 pound 3 but soon became a small baby, in the bottom one percent. For the first month of his life Ethan barely opened his eyes and when he did they were crossed and squinty. He was also an extremely drowsy and floppy baby. All of these things were concerns for me but all the nurses and doctors I saw told me I basically had no idea what I was talking about because Ethan was my first baby.
At three weeks of age Ethan had surgery on his hernia. The surgeon did an amazing job and to this day there is absolutely no visible scarring.
Ethan had a mild reaction to the anaesthetic however, his heart rate sky rocketed, his lips went white and the rest of him turned bright red. It was scary but only lasted approximately two minutes.
Ethans two month needles resulted in Ethan reaching a temperature of 39.8 so I took him to the gp, who was more concerned about the fact that Ethans head had grown dramatically since his birth. She sent us to the emergency room incase the growth was due to hydracephely which is basically excess fluid around the brain. She also noticed that Ethans soft spot was approximately the size of the palm of an adults hand instead of the size of a twenty cent piece which is normal.
The doctors measured that Ethans head had grown 7 cm in the two months since his birth, however after some scans were done  it was determined that there was no excess fluid and we could go home as long as follow up appointments were kept to keep an eye on his skulls growth.
When Ethan was three months old I noticed an unusual lighter shade of white stripe across the sides of his eyes. No doctors could tell me what this stripe is or why it’s there, however they did assure me that it wasn’t anything to be worried about.
At five months of age the ladies at my local clinic wrote Ethan a referral to see the physiotherapist, their concern was that he was still far too floppy and should have much better head and neck strength and control by now. The physiotherapist said she felt alot of Ethans struggle was the weight of his head and also low muscle tone. She gave me excercises to do with Ethan in hopes of strengthening his muscles.
It was around this age that Ethan began to have what I can only describe as night terrors. He appeared to be awake however I dont think that he actually was. He would scream, cry and be inconsolable for no apparent reason. Often hurting himself or me while I was trying to hold and calm him.
When Ethan was six months old I started him on Farex and pureed fruits. He enjoyed the new flavours but often choked while trying to swallow.
We had another appointment with the hospital when Ethan was seven months old to check the size of his head. It was still increasing in size at an abnormal rate, however the doctors informed me that their concern was more so the shape of the head rather than the size, as alot of the growth was occuring in the forehead area. It appeared to be growing outwards and the weight of it was pushing down on Ethans eyes making them appear quite sunken.
Ethan had suffered from constipation since he was less than a week old,which I always found unusual as he was an exclusively breast fed baby, but it wasn’t until his eighth month that severe constipation caused a rectal prolapse. Ethan was in alot of pain and it was extremely disturbing and upsetting for myself and Ethans father.
The prolapse went away on it’s own and all the doctor could recommend was increasing Ethans water and fibre intake.
At eight months old Ethan sat up by himself without the support of pillows. It was an exciting moment however there was alot of toppling over for a few months still as his head was just too heavy for him to hold up on his own for long.
During Ethans ninth month he was hospitalised over a simple virus. He was choking on his phlegm like he was drowing, he had extremely high temperatures and he was dehydrating fast. This was the first time Ethan was hospitalised due to a common cold, virus or flu but it wasn’t his last. Nor was it the first time he’d been much sicker than he should be from something that another child would catch and recover from quite easily. He was always sick and he was always severely sick.
Ethan got his first tooth at nine months old and two more followed quickly after that. I was happy to see teeth as I hoped that this might help with Ethans chewing.
At ten months old I read a book on babies and children that had a checklist of what he should be doing by his age and I was quite concerned with the results. Ethan could not get himself into the sitting position, i had to sit him up and when he’d had enough he’d just cry or fall to one side. He also couldn’t hold his own weight standing, crawl, point or eat any solid foods yet. All his foods had to be pureed or he’d choke, and even with them pureed he was likely to choke at least once a day. I quickly became experienced in using my finger as a hook to remove food from the back of his throat.
All of my friends and family kept telling me I was overreacting and that all babies do things in their own time but  I knew my instincts were not wrong and that something was not quite right with my child.
At eleven months old Ethan became so constipated again that he caused himself a nasty tear. The doctors referred to it as an anal fissure.
At this point I had to ask for a referral to see a specialist about the constipation issues as I felt they had gone far enough and there was possibly something wrong with Ethans stomach or bowels for this problem to be so ongoing even after I’d dramatically increased his water and fibre intake.
At eleven months old Ethan was also given an M.R.I and an X-ray on his head to look more closely to see if there was an reason as to why his head was growing so large and outwards in the front. The scans showed that everything inside the skull, including the skull was normal. Ethan had to have anaesthetic to have these scans but luckily had no reaction this time.
At one year of age Ethan finally started crawling. It was clumsy but at least he could get himself around and he appeared quite happy with himself.
Ethans night terrors were escalating at around this time, they could last up to an hour and his temperature often rose quite a lot during these fits. He began injuring himself also. I didnt’ know whether to hold him and have him panic more at being confined, or let him down on the floor where he would often bang his head and arch his back so far I was worried he would break his neck.
Not long after Ethans first birthday we had another hospital stay. This time Ethan had severe gastroenteritis and was severely dehydrated. He was in hospital for three days and was a very pale and skinny boy upon arriving home. His poor little arms covered in bruises where the nurses had collapsed vein after vein trying to put a drip in.
Not long after this hospital stay Ethan was back in hospital with a bowel impaction. He was already on a daily dose of laxative so I simply coudln’t understand why this kept happening. In hospital a tube was put down into Ethans stomach via his nose to feed water and a strong laxative into him. After approximately 12 hours of this my poor baby had an absolute explosion in his nappy which covered myself, a few nurses, the bed, the floors and the walls of his room . After this I made an appointment to see a dietician immedietly to discuss possible allergies. I told her that I suspected a possible allergy to dairy, however she said she didnt’ think so as this will usually result in diorreah not constipation. This appointment turned out to be a waste of my time as she wasnt able to give me any help or information regarding why my son  had constant and severe constipation.
At fifteen months of age I weaned Ethan off breast milk onto formula. I felt it was time, however I instantly regretted changing his milk as another rectal prolapse occurred.
I had a referral made out for a surgeon at the hospital. He felt the best thing to do would be to sew the inside lining back to the wall of Ethans rectum to try and deter a prolapse from happening again.
It took four months for a surgery date to become available however, and by then Ethans little body had managed to heal itself and the surgeon believed the operation to no longer be necessary.
After this i pushed for an appointment to see a gastro specialist to determine what was going on with Ethans insides. After a few extremely basic tests I was informed that Ethan had a moderate allergy to the protein found in cows milk.
Unfortunatley most foods eaten by most people on a regular basis contain some amount of cows milk protein, so I had to educate myself and learn to prepare meals for Ethan that didnt’ contain this ingredient. I also had to take him off formula and put him on soy milk which was a struggle as Ethan had just grown accustomed to formula and enjoyed it.
Once we had his diet under control we were able to lower his dose of daily laxatives and his bowel problems became less of an issue which I’m sure was a huge relief to Ethan as it was to myself and my husband. I could not help but be annoyed at the inept dietician who told me with conviction that it was definately not an issue with cows milk causing Ethans problem. My next goal regarding Ethan was to address the increasingly obvious issue of development, or lack thereof. I asked for referrals for him to see a speech pathologist as he could not speak at all, an occupational therapist as he coudld not point, pick up small objects or hold things without dropping them, and a physiotherapist again to assist with Ethans larger movements regarding standing and walking.
Within a few weeks the occupational therapist was able to see quite obviously that Ethan had Sensory Processing Disorder and that he was more sensory defensive than sensory seeking.
This explained  alot of unusual behaviour I had been seeing from Ethan regarding textures and the way he liked or disliked being touched. It also explained his night terrors. What was happening was Ethan was becoming so overwhelmed by the end of the day that he was unable to cope any more with sensory input and was at breaking point by night time.
The textures that bothered Ethan were things like grass, balloons and wet fruit like bananas. He would shiver and often react with fear. He also always had issues with his arms or hands being held or restrained. All of these behaviours fell under Sensory Processing Disorder. Having this information helped greatly as I could begin to avoid these things and learn how to keep Ethan as calm as possible.
The speech therapist gave me alot of great advice regarding encouraging Ethan to talk, however none of it helped as Ethan was still not saying anything but Mumma, Dadda and Bubba and they were more sounds he was making than words he was saying with purpose.
Seeing the physio was becoming frustrating as no matter how many excercises we did Ethan still could not walk or even stand without hold on and by this point he had reached 18 months of age.
Ethan had an appointment at around this time with a Neurosurgeon/Plastic surgeon who told me that Ethans head could be reshaped but that it would be quite a horrific operation where they would have to basically crack open his skull to reshape it. My husband and I said no. We love our son and we didn’t want to put him through pain or change the way he looked.
I was noticing too that some of Ethans facial and body features were abnormal and not just his head. However no doctor could tell me why this was the case and many just told me that this was just the way he was supposed to look. Just before Ethans second birthday I asked for a referral to see a genetisist as I still strongly believed that there was an underlying condition that could explain Ethans multiple problems and abnormalities. I was told that there was only a twenty percent chance the testing would find an abnormality explaining Ethans problems and that it would be quite a long wait before the test results came back. Despite this i had the tests done and then proceeded to wait rather impatiently for some kind of answer.
Around this time I enrolled Ethan for two days a week at our local day care centre. I felt that he needed more exposure to other children in order to learn from them and socialise . I also needed some time to myself as I was becoming quite stressed and also depressed by the number of problems that needed to be addressed and how little help the health care professionals could actually offer me.
However I was petrified every time I dropped him off for the day as his soft spot was still huge and left him extremely vulnerable. Also, as lovely and qualified as the day care staff were, no one but me really had any idea how to care for Ethan appropriately as he really was a complicated little boy. Despite my concerns and under the advice of friends, family and my doctor, I left Ethan in daycare.
Not long after Ethans second birthday a routine appointment with his pediatrician led to the discovery of a heart murmour. So many times before  his heart had been listened to and no one else had noticed it. I was thankful that she had picked it up and we were sent straight to cardiology for some more tests to be done.
After an ECG and an echocardiogram were done it was determined that Ethans heart murmour was a ‘flow’ murmour which basically just means it’s completely innocent and nothing to worry about.
During Ethans second year we continued with the many appointments with the physiotherapists, occupational therapists, speech therapists, pediatricians, the team of gastro specialist and the team of neuro specialists.   Even though each of these appointments were important, I felt like we were making very little progress.
Ethan was hospitalised yet again at around two and a half from a simple virus. Once again dehydration was the biggest issue, so a drip was needed and his veins were all collapsed again.
After this hospital visit I started to become concerned that Ethan could possibly have Leukemia or another immune system related illness. His eyes always looked black, his soft spot was always sunken and he had very little hair. These things started to add up for me and I became a little panicked.
So i pushed for our local gp to test Ethans blood. The tests showed he had a normal white blood cell count indicating no cancer, which of course was a huge relief. However his red blood cells were high which apparently is likely to happen if someone is not receiving enough oxygen into their lungs. The test was redone with the same results.
The doctor determined that Ethan was asthmatic and prescribed ventolin.
At two and a half Ethan started walking. We were extremely excited as this was the event we had been waiting for, for what felt like forever. He was clumsy and uncoordinated but he was walking!
Ethan continued to go to daycare at the same centre but was still unable to play with the other children. He was inclined to either follow the adults around or watch the other children play. I believed he was still getting some benefit from his two days there so I continued to take him.
I was almost always pleased with Ethans character. Despite the occasional behavioural outburst or frustration and aggression, Ethan was a very affectionate and kind child. Always reaching out for a cuddle and a kiss, always wanting to be near or with the ones he loved. He was extremely gentle with other babies and animals and I was always very proud of him for this.
Just before Ethans third birthday I asked for a referral regarding Ethans breathing while he was sleeping. The nights that Ethan slept with me in my bed were most nights as he still had extreme separate anxiety, and at times I would lay awake listening to him breathe. He would take a breath and then be silent for sometimes up to a minute and then let out a little gasp. Often this would wake him up and then I would have to try and settle him again. The specialist informed me that this was sleep apnea and that it might be a good idea to remove Ethans tonsils and adnoids to see if this would help.
Ethan was still not talking and the speech therapist was becoming concerned that there was a possibility Ethan could not hear properly, so we also had a referral done up for the Audiology department at the hospital.
Three times we went on separate occasions to have the tests repeated but each time it showed Ethans ears were blocked and I was told that a correct reading would not be able to be made. He also could not be conditioned to react to the noises the machine makes as his lack of development meant he was not intellectually where other children his age should have been. Finally a conclusion was made that Ethan had permanently blocked ears and heard sounds like he was underwater. So a surgery date was made for him to have grommets inserted into both ears to drain the fluid.
Around the time of Ethans third birthday I lost patience waiting for the results of his genetic testing through the public system and decided to bite the bullet and pay the hundreds of dollars to have the test done privately. Within two weeks of the blood being taken I had been rung by the genetisist with a diagnosis.
Ethan had something called Trisomy 2p. In laymans terms, a duplication of the second chromosome. My husband and I were ecstatic to finally have some answers, however we were also quite upset as it was now very real that our son had a disability. It was unfortunate also, because this particular disability had only approximately 35 reported cases in the world, so there was very little information out there to give us any idea of what the future held.
The genetisist also wanted to test myself and my husband to see if Ethans disability was directly related to one of us. That test came back completely normal for both of us and it was determined that Ethans disability was just a ‘fluke’.
I must admit I was  extremely frustrated  at the length of time it took before a diagnosis was reached and also  felt bitter and angry at all of the doctors who had belittled my concerns regarding my son. I had had doctors roll their eyes at me, snap at me, talk to me like I was either a child or mentally unstable for the last three years.
However, I just kept reminding myself that while there were alot of bad doctors that I came into contact with, there were also a lot of good doctors and I have them to thanks for the correction of many of Ethans health issues.
Seeing as we finally had a confirmed diagnosis I was finally able to apply for a carers pension for my son and access more services for him through the government disability program.
We transferred  Ethans physio, speech and o.t services over to their program and Ethan was also entitled to see a physcologist for his behavioural issues. Between Ethans second and third birthday his behaviour had become more and more of a problem for me. Not just his sensory defensiveness or his night terrors, but he was having many extreme tantrums during the day that were resulting in me getting bitten, scratched and pinched. He was even taking his anger out on himself, often pinching himself or banging his head against the wall.
He was also presenting alot of obsessive compulsive behaviours. He almost always had to be wearing a hat and shoes. He also had an unusual habit of undressing himself whenever he became angry or frustrated.
When Ethan was three and a half his surgery appointment came up for his grommets to be inserted and his tonsils and adnoids to be removed. This was a very scary time for myself and my husband as Ethan stopped breathing after being woken up from surgery and was coughing up alot of blood and mucus for the next twenty four hours. His recovery was difficult also, he simply refused to eat or drink much more than a little bird would for approximately two weeks. Ethan was still in the bottom one percent in size and weight, and not eating caused him to lose even more weight and look even more sickly.
On the plus side, Ethan could breathe properly while sleeping! He could also hear!
Within the next few months Ethan started to talk. He became an absolute parrot, repeating everything everyone said.
His social skills began to improve and day care informed me that he was now interacting more with the other children and even showing signs of pretend play and using his imagination, which was behaviour he had not yet been displaying.
Ethan also had an appointment at around this time with the eye specialist as I’d noticed Ethan having trouble seeing some objects. He was also inclined to bend down and feel the floor alot when there was a change, for example carpet to wood. It’s like he couldn’t tell if there was a drop off or a step and had to touch to feel it was still one level.
The first eye doctor was incredibly rude to me and barely looked at Ethan. She said his eyes were fine.
I was so angry I demanded a second opinion, so the hospital organised for the head of the eye department to take a look.
She could tell immedietly that Ethans eyes were not right. She determined that he had moderate shortsightedness. When I asked her what that meant she said basically he was seeing most things as blurry and would need glasses eventually.
As Ethan was still very immature for his age we decided to wait a little longer for glasses as he was not very likely to keep them on.
Not long before Ethans fourth birthday the public genetics team finally got back to me with a result. I was disinterested in hearing from them at first as I already had my answer, however I attended the appointment anyway as I thought I may possibly learn something new.
I am very glad now that I attended that appointment, because the genetisist informed me that while there is only 35 reported cases of a duplication of the second chromosome there is only one reported case of that particular piece of the chromosome being duplicated. And that case was Ethans.
Basically I had just been informed that Ethans disability was completely unique and that while it was still Trisomy 2p, it was a variation all to itself and that there was just no information that they could give me as to what Ethan would and would not be capable of in life.