PMSF Australia

PMSF Australia is here to support the families of children and young adults with Phelan-McDermid Syndrome

Logan’s Story

Logan’s Story

In March 2012 Jason and i found out that finally we were expecting our first child due in November later that year. We were so excited that the last 7years had finally paid off and it was our turn to become parents. We tried to keep the secret and not tell anyone, not even our family. This only lasted a week or so when we decided to just tell our immediate family who were over the moon as we were.

We had our first scan which showed our little tadpole was 6weeks old and everything was looking great! Our 3rd scan showed that I had a big baby on board and that the next step was the Gestational Diabetes check that unfortunately turned up positive. They suggested that we had a big baby due to GD, however I managed GD with diet only and managed to get through without needing further intervention.

Around 32weeks gestation we were told that there were issues with our ultrasound and that we needed to go to a bigger hospital for a more detailed scan. So nervous and concerned we headed down to Tamworth Hospital which is where I was going to give birth to our baby, we were so very nervous as to what to expect as the sonographer had suggested hydrocephalus and polyhydromenis. We had a lovely sonographer who was very calm and delicate in how she proceeded with our scan. She thankfully mentioned that the hydrocephalus and polyhydromenis were high but they were still within the normal bracket. She did however pick up that there was an issue with the babies kidneys and that we would need to go to John Hunter Hospital as soon as possible to have a specialist do a scan.

So once again on the road not knowing what to expect and very nervous for the health and well being of our unborn child we had waited so very long receive. We got to John Hunter Hospital we met with the specialists (3 were in the room) and they conducted what was to be our last scan before our baby was to be born. We had our extensive scan and had the specialists talk to us about what they had found. They agreed with Tamworth that the Hydrocephalus and polyhydromenis are still on the normal size, baby is big and that there is something not quite right with the babies kidneys however what that was they were not entirely sure. As baby was happy and healthy and the issue did not have a big effect on the baby at that time they suggested we wait out the next few weeks with care and to be induced on my due date so that the baby didn’t get too big and that they were able to assist the baby once he was born.

On the 18th November we traveled down to Tamworth ready to be induced early the very next morning. Apart from the stress and unknowing of what was to come when our baby was born I had a fantastic pregnancy, I didn’t get morning sickness, didn’t have cravings and didn’t put on any weight. I didn’t feel him kicking as much as i thought was right but I could feel him moving around in there and knew he was alright. We felt very sheltered heading down to Tamworth as we asked that no one other than our family to travel down to the hospital to see us as we did not know ourselves what was going on. It was our choice to keep the issues of what was happening to ourselves to save on stress and I guess it was just our way of coping of the unknown.

The morning came and we were up early and off to the hospital we went, after a sleepless night I was already exhausted but excited for welcoming our beautiful baby into the world. Well he did not want to come in a hurry and wanted to make sure he put mummy and daddy through a bit of a hurdle. After a long labor of trying different pain relief methods (Pethadine, Gas and epidural x 2!!!!) we finally got the ball rolling and were able to start pushing. We were very lucky that Nanny and Poppy Cooper were there to help sit with me so that Jason could go and have a rest out in the waiting room and I could torture nanny and poppy by squeezing their hands at each and every contraction. Finally about 1:30am on 21st November the midwife told me to stop pushing and bumped the epidural drugs back up so that I could rest and waited for the Dr to come. The Dr checked me over and chatted with the midwife and then to Jason and I and discussed what she thought was the next step. The baby had gotten stuck and didn’t seem to be helping with pushing out and I was exhausted, although the baby’s stats were still OK we opted that the best and safest option at this point in time was to have an emergency C-section.

I was wheeled down the long corridors and went up in the old fashioned pull shut lift and into the operating room. As i lay on the table with the bright lights and the 15 + people hovering around me talking to me and asking questions I thought at last I can relax and enjoy the arrival of my baby. Finally we were all ready and Jason came into the room and they started the procedure.

Our baby boy was welcomed into the world at 3:42am on Wednesday 21st November 2012. I remember been concerned as I didn’t hear him cry, they had to take him to the special table and check his stats, it was then that he let out the tiniest cry that then made Jason and I cry. Jason bought him back over to me and we were altogether, finally we had our perfect little family. At just a couple of minutes old Logan had such bright eyes and was looking around, I couldn’t believe just how much like his father he actually looked, he was PERFECT, all of the unknown wasn’t an issue when I was finally staring at our beautiful boys face.  He was all wrapped up in many blankets as one of the nurses said that his body temperature was quite low. The midwife asked if we had a name and we announced his name “Logan Jason Maybon”, she then said that he will need to be taken away while I was in recovery to have his needles etc…. and to ensure that his body temperature had increased, thankfully Jason went with our boy and made sure that he knew he was there with him while I couldn’t be.

Once I was back in my room with Jason and our beautiful baby boy we had midwives come and help teach us how to breast feed, he attached really well the first time but tired ever so quickly but we perused my wish of feeding throughout the day. With me been bed bound, Jason was like my slave picking Logan up and putting him down each time he needed to be fed or have a nappy change. I was so relieved once the midwife said that I could go and have a shower, i felt gross and probably looked awful.

After my shower we had feeding with the midwife again and we could not get the hang of it and Logan had so much trouble attaching, the midwife took a look inside his mouth and we realized that he had quite a severe tongue tie where it was actually attached to the top of his tongue. The midwife discussed stopping feeding but continue with expressing as his blood sugar levels weren’t where they needed to be. He was taken to the nursery where he had a nasal gastric tube and fed expressed breast milk and formula.

On the third day we were taken to the ultrasound section where Logan was so very brave as he peed all over the table while they pushed on his teny tiny body to see what was going on. Unfortunately the news was not great,  they suspected that he had a blocked urethra and were sending us down to John Hunter Hospital the next day to have surgery and investigate further. So back to the nursery we went where Logan had a canula and a catheda fitted and our transport was organized for the next morning.

We were so very lucky to be in such a great hospital where we had amazing midwives who were there for us through every step that we went through. One midwife who was there for the majority of my labor experience took it upon herself to come and sit with me after her shift had finished and offered her shoulder to cry on once we received the news of heading off for an operation. She also went out and had a friendly chat with Jason as he stayed brave for the both of us (because I am a sook at the best of times).

The next morning all packed up and waiting for our ride to come and pick me and our tiny baby who had 3 different cords coming out of his tiny body. Unfortunately our ride didn’t come and so we popped Logan in his capsule and drove him from Tamworth to John Hunter Hospital as the Urologist awaited our arrival.

We very nervously went to the test for Logan where they injected the dye into his system and waited for him to release his bladder as they watched the dye travel through his body. They didn’t have to wait long and Logan had weed and pooped all over the Dr doing the test (was the highlight of the day). Later we were told that Logan didn’t have a blocked urethra but had a grade IV bladder reflux and enlarged ureters and that he would need to start medication straight away and that he could possibly be on this medication for life. We were also advised and a referral was sent to see a Pediatrician as soon as we got home.
Relieved that there was no need for surgery we were excited that we could then take our baby down to the cafeteria with us and enjoy his company and show him off to onlookers.

The next day we started the very long trip home to finally take our baby home. I remember our first night home very well. Logan had failed his first hearing test, the nurses assured me that it may be due to his horrific birth and that he would need another test in 2 weeks. Well our first night home we had a massive storm and it sounded like the hail and the rain was going to bust through the roof at any time. I was sitting on the end of our bed crying my eyes out holding my teny tiny bundle of joy who was sleeping. I was so afraid that 1. he had failed his birth hearing test and 2. he was sleeping through the biggest storm i had seen in years, we were going to be told that our baby wasn’t able to hear! Little did I know at that time that the thought of a hearing impaired child would be the least of our worries.

We had follow up visits with a pediatrician, we were referred to a Physiotherapist with the local hospital after our lactation consultant had noticed that Logan had Torticollis and Plagiocephaly. We also joined in with the Developmental Clinic with the Hospital who was a wonderful team of Baby Health Nurse, Physiotherapist, Occupational Therapist and Speech Pathologist.

Over the next few months we watched our precious bundle grow and attended all the appointments with therapists and specialists. Each month we questioned with our pediatrician that there was something going on as Logan wasn’t reaching milestones. Each month we were told its ok it is all normal! With a background as a Early Childhood Teacher myself I knew that this was not normal, how dare this Dr tell us that it was normal for our 8month old not to have head control amongst other things. It was then that we decided to transfer to a new Pediatrician that we had heard great things about.

Our first appointment with our new Dr went for 2.5hrs! Telling her everything from the very beginning till where he was up to presently. Straight away she recommended that we do a genetic test to see if anything showed up. We felt so relieved after our appointment that we had finally found a Dr who listened to us and was lovely to deal with and showed genuine interest for our child. 8 weeks later we got the devastating news that cut a hole so deep I don’t think it will ever be filled in. The Dr rang and told us that Logan didn’t have Prader – Willi Syndrome which is what she originally thought but a very Rare Syndrome that she had not heard of before “Phelan McDermind Syndrome”.

Been the extremely investigative parents that we are we were straight on google researching what this Syndrome actually was and how it was going to affect our baby. Amongst my searching I came across Facebook pages for PM-S. Once I joined the groups we were welcomed by parents all over the world who have a child with PM-S. These parents have become like family and are truly the most knowledgeable people we know.  Through joining these groups we feel that this is where most of our information has come from to assist us in learning about Logan’s Syndrome.

Over the last few years Logan has had his fair share of hospital admissions, thankfully he hasn’t required any interventions apart from oxygen, swabs and blood tests. Logan has had appointments with several specialists with some positive feedback but some with further follow on and lifestyle changes.

In 2013 Logan had a Sleep Study Test at John Hunter Hospital after a mini sleep test came back with abnormalities. His sleep study came back with a few little issues however he showed to have more apnea while awake rather than when he was asleep. The Drs agreed to just monitor his sleeping and that no further investigation was necessary.

Logan had a Barium Swallow Study in 2013 which revealed that he was silently aspirating and also had nasal regurgitation. This was the hardest thing to implement with a 1.5 yr old who was already on finger foods. However we left the hospital on honey consistency fluids and thick pureed foods. This was very difficult to get the hang of as we had to be extra prepared before we even stepped out the front door. We couldn’t just go and buy a bottle of water and give it to him or buy a piece of fruit. All meals had to be prepared ahead of time to ensure that he was getting his daily intake and that he had the appropriate consistency. Finding variety of foods to eat pureed is extremely difficult!

We now also have a beautiful little girl Matilda who is eating finger food, this has made meal times are very stressful time but also a very happy time in our house, getting Logan to eat his blended pureed foods while he sits watching his sister Matilda eat the same thing but in chunks.
Logan has also had 3 Mag 3 Scans and 2 DSMA scans to look at the functionality and scaring on his Kidneys, all tests have been abnormal but still ok to be just monitored until his latest Mag 3 scan in 2015. The latest Mag 3 showed that Logan’s kidneys were worsening and that he didn’t have much kidney tissue left. We were then awaiting an appointment with a specialist to find out all the details of the results.

As part of Logan’s Diagnosis of Phelan McDermid Syndrome he also has

* Global Hypotonia
* Bilateral Severe Hydro-nephrosis (Grade IV bladder Reflux and megahydroureters)
* Low functioning kidneys
*Bilateral undescended testes
* Sleeping issues
* Chronic Constipation
* Moderate to Severe Gastro-oesophageal reflux and nasal regurgitation
* Laryngomalacia
* Sensory Processing Disorder (oral)

As first time parents this is definitely not what we expected to endure with our first child, but we had this most beautiful sweet adorable little baby who we loved so much and we were willing to do anything to help him grow and develop.

Living in a small country town accessing therapists and specialists is very hard. We had ups and downs with GREAT therapists in town but their policies and procedures made it hard for us to see them when we were accessing another service to ensure that we covered all areas for Logan (Speech, Physio and OT). We now only utilize one department for most of the therapies and also accessing a private OT who is fantastic. We have to travel 100KM one way to access our fantastic Pediatrician for follow ups or when Logan is sick, we have to travel 978KM round trip to seek specialists and certain tests that he requires on regular basis (Gastroenterologist, Neurologist, Pediatric Surgeons, Urologist etc).

In our most recent round of testing his latest swallow study has come back showing that he is still aspirating his thickened fluids and his kidney tissue has decreased and ureters are quite enlarged. We have just had another appointment at John Hunter Hospital where Logan had a PH study and a milk scan. We saw the Gastroenterologist in regards to his results, so far we are still waiting for the results for the milk scan however his PH Study came back showing that Logan had Moderate to Severe GORD. It also showed that Logan was having reflux episodes mostly during the day however at night time he had a significant episode early morning (2:30am). Our GI mentioned that Logan would need to come back and have a fluoroscopic procedure done to see if he had any ulcers in his food pipe and small intestines which could then result in him requiring surgery to tighten his sphincter that stops the acids from rising into his food pipe. We were told that depending on the fluoroscope results Logan could require to be on his reflux medication for the rest of his life. Logan also showed signs of been extremely bloated all day every day so he had a blood test before we left the hospital to check his Iron levels (they were a little low last test) and to test for celiacs disease. We are still awaiting the results to come back.

We also saw a Pediatric Surgeon who is also a urologist in regards to having his testicles adjusted and his Mag 3 scan results. The Dr agreed that Logan’s testicles are important to be corrected however at this point in time his kidneys were his main focus. A special little machine  showed that Logan was still holding 200mls in his bladder after filling his nappy approx 30mins prior to our appointment.

The Dr didn’t talk to us much about his thought of an action plan as he wanted to talk to all other specialists involved with Logan’s management and decide together which we are very grateful for his honesty and thoughtfulness in our feelings and Logan’s health. A few things we did speak about was our aim to prolong the need of kidney transplant which he put a rough time frame on of approx 10years. He also asked me how I would feel inserting a cathedar every night and having it drain into Logan’s nappy to ensure that his bladder was completely empty. First I thought Oh My God I cannot do that I’m not a nurse, what if i do it wrong, then I said to him that I would do anything that Logan needs me to do, I will learn how to do it and do it every night if this is what he needs.

So at this time we are still in Limbo with not knowing exactly what is going on with our little boy as it does take time for specialists to get together and discuss such a complex little guys management and care plan.

Logan has a baby sister Matilda who is almost 12months old who Logan adores, yes Matilda crawls all over him and hits him with toys in a loving playful way but Logan just laughs and smiles and rolls around as she does so not complaining at all. Sometimes you can even catch a glimpse of them holding hands or Matilda telling him some story that is Oh so funny.

Today is the day before our baby boys 3rd birthday, although we buy and we wrap presents and organize a little family party, Logan still has no idea or concept of what a birthday actually is, how to unwrap presents and that the presents are actually for him. We will spend the day with him and our little family and we will celebrate his birth tomorrow 21.11.12 and shower him with lots of love and kisses, we will sing happy birthday many times throughout the day and ensure that he has the best day ever. Years upon years we will celebrate his birthday and continue to enjoy the many memories, happy times, sad times, triumphs and regressions with our little man.

As you can see when you look at his photos you can see he is most adorable, gentle, snugly, happy  and loving little boy with what seems to us is the weight of the world on his shoulders, BUT he doesn’t let things get to him and he spends his days giggling at shadows and fancy colored lights, rolling around the floor like a little ball and just enjoying life, yes we have more sad and unhappy days but we focus on the good ones and make the most of every day.

We are so very proud to be Logan’s parents and we look forward to each and every step and hurdle we will go through together as a family enjoying every single moment and living each day to the full.


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