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Our Milo Complementary Birth

Milo's Story And Ongoing Undiagnosed Condition
 

Hi,
I am Laura, Milo's mum. In order to help explain Milo's condition, and our story, we have put some of the events, thoughts and feelings into a timeline. It will guide you through how we found out that there may be problems with Milo during my pregnancy, what happened at birth, and the first few days following Milo's arrival. The main focus will be on the tests and investigations that Milo has encountered in an attempt to provide a diagnosis of his condition, and to give us answers about Milo's prognosis.


Thank you for taking the time to read our story.

Laura




Our Milo Complementary Birth

Our Milo's Condition Timeline
 
Milo's Early Scan .

When I was 12 weeks pregnant, routine antenatal screening test bloods showed that I had an increased risk of the baby having problems. Stephen and I were really worried and at 16 weeks we were sent to the foetal medicine department for further tests and investigations.

 
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Detailed scan
 

A detailed scan showed that our baby only had two vessels in the umbilical cord, rather than three, and other markers which suggested that the baby could possibly be born with either Edwards Syndrome or Patau syndrome , both of which meant that the baby could die in the womb, be born with significant disabilities, or die soon after birth.

 
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Antenatal Tests
 

Stephen and I were devastated. We were offered to have an amniocentesis, To see if the baby had any chromosomal problems including Down's Syndrome, but the test carried a risk of miscarriage. Stephen and I didn't want to risk losing the baby, and decided not to have the amniocentesis. We had seen our baby move on the scan, heard his little heart beating, we couldn't risk losing something so precious.

. Scan Image
 
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Our fears
 

The following we weeks were torturous. Whilst we should have been enjoying our pregnancy and preparing for the birth of our baby, all we could do was worry about the future, and fear the worse. We tried to remain as positive as possible, but fear and anxiety remained deep within.

 
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20 Week Scan
 
20 Week Scan .

However, the routine anomaly ultrasound scan at 20 weeks was reassuring. We were told that the baby was a boy, and that everything looked ok on the scan. However the Doctors advised that without the results of the amniocentesis, that they could not guarantee that there were no underlying problems with our baby. We decided to leave things to fate, and wait until the baby was born and deal with whatever was wrong.

 
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Everything else looked fine
 

During my pregnancy, the Doctors kept a close eye on our little boy. We had three more ultrasound scans to check his growth, and all was well. Everything else during my pregnancy was fine.

. Baby Bump
 
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Labour & Birth
 
Just Born .

At 39 weeks, I went into labour. Although the labour was relatively fast and uneventful, dread filled the back of my mind that something may be wrong with our little boy. Milo was born on the 3rd June at 00:34 weighing 6lb 3oz.

 
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Checks
 

The midwife and paediatricians routinely checked Milo over, and we were reassured and relieved that visually he looked fine and the routine neonatal examination carried out following birth, showed no signs of any anomalies. However Milo did not have any further investigations to exclude chromosomal anomalies at this point. We stayed in hospital overnight to get feeding established, and then went home the following day with the support from the community midwife.

. New Baby
 
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First Few Days Of Life
 
Our Milo .

About 48 hours following birth, Milo had several periods of Jerky Movements. It started on one side of his body, and then became more frequent involving both his arms and legs. When the midwife came to visit, she reassured us that this can be quite common, especially after a fast labour. She checked him over and reassured us that everything appeared fine. She advised us that if they persisted, that we should get him seen by the GP

 
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GP Referral
 

His Jerking movements continued periodically, so we went to see the GP. The next three weeks saw us visiting the GP quite frequently. We were concerned about Milos Jerking movements and poor feeding. We were both very anxious, especially as we did not have the results of the amniocentesis to exclude any underlying chromosomal problems. The GP referred us to the RVI hospital for further investigations.

 
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10 Weeks Old
 

At 10 weeks, Milo was seen at the RVI. He had blood tests for Chromosomes, which came back negative. However, the Dr remained concerned about his Jerking movements, and advised us that he wanted to carry out further tests and investigations.

 
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Frustration
 

At this point we were left in limbo with no answers to our concerns. We knew something was wrong with our little boy, but no one knew what. This left us scared and frustrated.

Lots of conditions were mentioned, but further tests were required to confirm them, or rule them out. It was a painstaking waiting game.

 
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Stress And Fear
 

We were supposed to be enjoying our new baby and our new family, but all the time was filled with stress and worry and the fear that our baby could die

. Family Picture
 
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Suspected Problems At This Point
 

Everyone believed that Milo had quadriplegic cerebral palsy.

He had many of the symptoms including floppy central body, and stiff limbs. He had no head control. They decided to do a MRI to see if there were any anomalies on Milo's brain. They carried out the first MRI under sedation, but Milo's sedation ceased to work for the whole of the procedure, which resulted in the images being of poor quality. The MRI had to be repeated several months later under general anaesthetic. This was an extremely distressing time as we knew that there were significant risks of having Milo put to sleep.

Although the MRI showed no major abnormalities, they could not rule out Cerebral Palsy.

 
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Further Tests
 

Further tests and investigations were carried out including more bloods and a urine test. The urine test indicated that he had beta-ketothiolase deficiency (BKD) .

An extremely rare metabolic deficiency with only 60 cases worldwide. This seemed to be the explanation and possible diagnosis as he had many of the signs and symptoms. Part of me felt relieved that we finally had a diagnosis, and therefore would have answers, the other part was terrified of the impact of such a diagnosis. We read lots of information on the internet which did not provide us with much reassurance about Milos future.

 
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Feeding Problems
 
Feeding Tube .

During this whole time of testing and investigations, we were really struggling to get Milo to feed. He wouldn't take his milk from a bottle as he became so tired and wouldn't tolerate his feeds. With the possible diagnosis of BKD, we were strongly advised to feed Milo every three hours around the clock as if his blood sugar dropped, he could have a metabolic crisis which could lead to coma or death. We were told to continue giving him milk feeds, and had special glucose medicine to give him when he was unwell to ensure that his blood sugar levels remained safe.

Stephen and I set alarms to make sure we carried out the feeds on time. Neither of us slept. We were exhausted, and at the same time tried to act normally around Felix (our little boy who was 18 months at the time), and Mia (who was 4 and a half) .

 
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Nasogastric Tube
 

We were really struggling to get him to take milk from a bottle as it seemed like he wasn't able to suck properly, and he became so exhausted with feeding. The Drs decided that a Nasogastric Tube was the safest option for Milo to ensure that he took the required amount of milk, and prevent a metabolic crisis.

. NGT
 
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NG Tube Skin Problems
 
PF Skin NGT .

The Nasogastric Tube required regular replacement, especially when he coughed, vomited or sneezed. We relied on nurses siting the Nasogastric Tube, so we had frequent visits from the nursing team. Siting the Nasogastric Tube was distressing for Milo and caused his nose to bleed. It was distressing for us as parents to watch him suffer.

Although Stephen and I were taught how to feed Milo through his tube, we were aware that the procedure carried some risks, especially if the tube had become dislodged. My mum and dad were also trained to assist in feeding Milo via his tube so they could give me some help and support.

Milos face became sore, with his skin broken due to the tape that was applied to secure the Nasogastric Tube. But at least we knew that he was receiving the right amount of milk that would hopefully prevent any further problems.

 
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Feeding Tube Operation
 

After several months of feeding Milo through the Nasogastric Tube, the Drs suggested that he should have a gastrostomy, a feeding tube placed directly into his stomach. It would require another operation under a general anaesthetic. Milo would be fed using a machine at regular intervals, and were reassured that it would make Milos's quality of life a lot better. We both didn't want to put Milo through an operation as he had been through so much already. However, we knew that the feeding tube was a temporary solution and could not be used long term. We made the brave decision to allow him to have the operation, which again carried many risks.

. In Hospital
 
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Mitochondrial Symptoms
 

When Milo was about 16 months, the Drs suspected that he may also have Mitochondrial problems as he displayed many of the characteristics, signs and symptoms. We were bombarded with scientific terminology and spent a lot of time searching on the internet for more information. The Drs ordered more tests and investigations.

 
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18 Months Old
 
Brave Milo .

By the time Milo was 18 months he had been admitted into hospital at least twelve times, spending a total of 146 days away from home. Either I or Stephen had to stay at home with Felix. It was really hard leaving Felix at home to be with Milo, and hard leaving Milo to be with Felix. I felt like I was being torn in two, trying to be a mum to both my children at the same time, was really hard.

 
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So Many Tests
 

To date, Milo has had numerous blood tests, 2 MRI Scans (which required him to be sedated or put to sleep under a general anaesthetic), 2 EEG'S, an an electroretinogram (ERG), muscle biopsies, lumbar punctures, skin biopsies, an oesophagus biopsy, and small intestine biopsy, and many other procedures or operations including fitting the Percutaneous Endopscopic Gastrostomy (PEG) and removing it to fit the Button. He has been seen by physiotherapists, speech and language therapists, dieticians and nutritionists and many speciality nurses and Drs.

Despite him suffering so many tests and investigations, he is a happy little boy who is full of life and is always smiling.

. Biopsies
 
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All Tests Negative
 
Milo Smiling .

So far, all the above tests and investigations have come back negative, leaving Drs baffled about Milos diagnosis. After a year of treating Milo for BKD, and despite him still testing positive for BKD in his urine, the Drs have cleared him from having BKD. So we are back to the drawing board, and left wondering what the future will hold. Despite so Many test Our Milo keep on smiling.

 
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M3HBA Tests
 

They are now testing Milo for Methyl 3 hydroxy buteric aciduria (M3HBA) or a similar condition which there are only 10 cases known worldwide. If this test comes back positive, no one knows what the future will hold. There is very little information about the condition, whether his hearing, vision or ability will deteriorate, or in fact how long Milo will live for. We do know that some of the cases have been terminal.

. Milo's 1st Birthday
 
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Living Everyday As It Comes
 
Milo's 1st Birthday .

As parents, the uncertainty and unknowing is devastating. We are living each day as it comes, and filling it with as many smiles and laughter for Milo, Felix and Mia.

We love our son with all our hearts and want to make his life as happy as we possibly can.

 
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...and Finally
 

We have set up this website and arranged fundraising events with the phenomenal help and support from our family and friends, for which we are eternally grateful. The kindness from strangers has really touched our hearts.

. Milo in his chair

Sensory Room .

We are trying to raise as much money as possible to create a sensory room for Milo as this is the only way that we can provide stimulation which may hopefully prevent his condition from deteriorating further. We know that he gets pleasure from sensory activities, and having this equipment at home would make his life so much more pleasurable, allowing him to interact with his older brother and other family members.

We do not know how long we will be blessed to have Milo in our lives, but we want to make the most of every day. We would greatly appreciate your support, whether that be sponsoring any of our fundraising events, organising your own event, or kindly giving Milo a donation. Every penny counts and will make a difference. We would really appreciate you sharing our story and raising awareness of Milo and his condition.

Thank you for taking the time to read our story.
Laura and Stephen (Milo's Parents)

 
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