‘We don’t know what kind of life he will have. Only time will tell.’ All I could do was hold Elijah and cry.’: Mom shares emotional journey of facing unknowns of son’s rare CDG diagnosis

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“On Monday, January 22nd, 2018, we heard the words that changed our world forever. ‘Elijah has Congenital Disorder of Glycosylation. His sub-type is PMM2. There is no cure, and it is extremely rare.’

I always knew I was meant to be a mom. It was everything I had ever wanted from life. I wanted a tribe of baby boys and a little girl one day. I wanted to take my future kids to football on the weekends and go to dance lessons and have water fights in the garden. I wanted to have a crazy house filled with laughter and make-believe games. I couldn’t wait to watch the kids squabble over who ate the most treats, swear they’d never talk to each other again, then go full circle and defend each other fiercely because that’s what siblings do. I wanted a family life like the upbringings Elijah’s dad, Liam, and I had growing up.

Liam and I found out we were pregnant on my 27th birthday. We were lucky and fell pregnant quickly, and it was everything we wanted. We were so excited. Choosing names, discussing nursery themes. Jumping into the crazy world of strollers and car seats. Liam couldn’t decide if he wanted to be called poppa bear, papi, pops, or daddio. He even played with the idea of the baby calling him the big L. Fortunately, he is now just known as daddy.

During pregnancy, I had no sickness and no real side effects, for which I was grateful. I worked until my 8th month of pregnancy managing a mobile phone retail store, which was busy, so I was on my feet all day, but I didn’t often feel tired, and I loved my job. Elijah wasn’t an active baby in the womb. I rarely felt him move or kick. I spoke to midwives about this, but because this was normal for him, I wasn’t worried about it, and neither were they. We had regular scans and during scans, he would be stubborn on screen, and I would have to walk or do star jumps to get him to move.

Mom son is born in the hospital
Courtesy of Ali Hawkins

Elijah was to be the first grandchild on both sides of our family, and everyone was so excited for us. When we found out the sex, we only told our closest friends and family. Before he was even born, I knew this baby boy was the luckiest baby⁠—he already had an army of family wanting to be in his life from all over the world, and he hadn’t even arrived yet.

Elijah was born via emergency c-section on May 25th, 2017, after a 23-hour labor. He was super puffy and a bit purple, but to us, he couldn’t have been more perfect. 24 hours after Elijah was born, and a few hours before we were due to go home, he was taken into the NEO Natal unit at our hospital because he had caught an infection and required antibiotics. It was during our stay in NEO Natal that we discovered that Elijah suffered with abnormally low blood sugars. He spent his days hooked to an IV drip to stabilize his blood sugars, and we couldn’t go home until he was able to regulate these himself. We ended up staying at NEO Natal for 13 days because he was hooked up to sugar water, and he was soon known on the ward as the ‘sugar baby.’ The low sugars were later to be diagnosed as the condition Congenital Hyperinsulinism.

When we took Elijah home, we settled well into life as a family of 3 with 2 dogs who were amazing with him from their first meeting. Our days were filled with giggles, visiting family and friends who couldn’t get enough of this squishy little boy, and family walks in the sunshine down at the nature reserve near where we live. Elijah was always such an easy baby. He rarely cried. He slept a lot and always took everything in his stride.

son being settled into home
Courtesy of Ali Hawkins

In September 2017, when Elijah was just over 3 months old, we had a hospital appointment booked to fast him for several hours to check that the low sugar problem he had when he was born was no longer an issue. The idea behind this was that he would be able to hold his own sugar level above 3.4 even without eating for several hours, which is what is deemed ‘normal.’ Within the first hour of his fast, Elijah’s sugar had dropped dramatically, which is when the doctors knew we had a problem he hadn’t outgrown. The fast was stopped immediately. Suddenly, our half-day fast in the hospital had turned into a 4-day stay. Elijah got put on chlorothiazide and diazoxide medications within the day, and the doctors worked tirelessly to pinpoint the correct dosages he needed to stabilize his sugars. Even at this point, there was no inkling that Elijah had a rare condition.

Elijah took his new medication routine well. He took chlorothiazide twice daily and diazoxide three times daily which stabilized his sugars to between 4.0–7.0. Due to Elijah’s Congenital Hyperinsulinism, our pediatrician recommended we book Elijah in for an MRI scan to ensure that during the months of June–September there was no damage done to his brain due to his body failing to produce the sugar he needed.

The MRI scan was a recommendation, we didn’t have to go ahead with it, but without hesitation, we decided straight away this was something we wanted to do for our baby. The unknown would be no use to us. We needed to know if there was any damage so we could put a plan in place if needed. Despite the seriousness of needing an MRI scan, naively, we remained positive. We were sure the MRI would show nothing. You only had to spend some time with Elijah to know that our little boy was ‘normal.’

Two days after the MRI scan, I was out walking our two dogs, Chubsy and Herbie, when I got a call from our pediatrician. Even to this day, I don’t know why or how, but I knew it was bad news. I felt sick to my stomach, I felt faint, and I couldn’t answer the phone call. I felt like I was in a daze, and I couldn’t understand why because we hadn’t had any news. I let the call go to voicemail and called them back when I got home to Liam. We booked an appointment for two days’ time. The next two days were a blur. I think we both just went through the motions. We didn’t know what to think or what to expect. We were afraid.

son trying to walk
Courtesy of Ali Hawkins

Two days later, on Monday, January 22nd, at 10:30 a.m. we were sitting in a hospital room with Elijah and his pediatrician. I was filled with dread, anxiety, and panic. I then heard the most amazing words⁠—Elijah doesn’t have any brain damage. I was in shock. This was amazing. I felt elated. This is the best news we could have hoped for. But, why did he bring us in to give us good news? We agreed only to a meeting if something needed addressing. Surely, no brain damage was good and didn’t need addressing. I didn’t understand. It didn’t make sense. Then there was a but⁠—a hesitant but, like he didn’t want to burst our now ecstatic bubble.

The doctor pulled out Elijah’s MRI scan photo and said they had discovered something else…and it wasn’t good. Elijah’s cerebellum hadn’t developed properly. It was too small. Elijah has Congenital Disorder of Glycosylation. His subtype is PMM2. There is no cure, and it is extremely rare. I felt sick instantly. I couldn’t process the information. I didn’t understand. What is a cerebellum? What does it do? What did this diagnosis mean? Is Elijah okay? Will he survive? Why my baby? What went wrong during pregnancy? Could we have prevented this? My mind went into overdrive, and I had a million questions, but I couldn’t speak. I couldn’t look Liam in the eye. I couldn’t look up from the floor. I couldn’t hear what was being said to me. I couldn’t focus on anything, and I didn’t understand. All I could do was hold Elijah and cry.

After I don’t know how long, I somehow found the courage to look up at Liam. He was devastated. Tears were streaming down his face too. How had his boy been so unlucky? How could we be so unlucky? Why us? At some point, our doctor must have left the room to give us some space and when he came back in all my questions started shooting out like bullets. Will he walk? Will he go to a mainstream school? How can we make him better? Will he be okay? How behind will he be? Why him? Why did this happen? Why wasn’t it picked up before? The poor doctor didn’t even have a chance to answer a question before another shot out.

He then said something brutally honest. ‘We don’t know what kind of future or life Elijah will have. Unfortunately, it’s all unknown, and only time will tell us anything. We have to take it one day at a time.’ I was devastated. Heartbroken. Angry. I felt betrayed by my own body for not growing Elijah properly. I felt angry at the nurses who did our scans⁠—how could they miss this? I felt angry at the doctors. Why didn’t you notice this earlier? The reality is, it’s no one’s fault. I couldn’t have done anymore during pregnancy to make sure that Elijah would be born anything but perfect. Every nurse and every doctor we had met during pregnancy, during labor and Elijah’s first days in hospital had been amazing. The NHS are a credit to our country. That didn’t stop the anger though, I just wanted an answer. Someone, something, to blame. But the doctor was right. We have to take it one day at a time. And that is exactly what we have done.

Elijah in the hospital with the diagnosis
Courtesy of Ali Hawkins

Life with Elijah now is a whirlwind. We have no idea how one day looks to the next. We have spent the last few years researching his condition, and even now, I don’t think I fully understand it. Congenital Disorder of Glycosylation is incredibly rare. At the time Elijah was diagnosed, there were only 1000 known cases throughout the world and only 70 cases in the United Kingdom. There are many different subtypes of CDG, and I’m sure that there will be many more found as research is done. CDG is a group of extremely rare and often very complex genetic, metabolic diseases which affect all parts of the body, including the brain. Although two patients can have the same sub-type of CDG⁠—for example, Elijah’s sub-type PMM2, which is the most common⁠—those two patients of CDG PMM2 might have very different lives and variations of signs and symptoms.

The best way that I have found to explain Elijah’s condition is the following: Elijah’s cerebellum is too small. For example, if it was meant to be the size of a tennis ball, his is only the size of a ping pong ball (not accurate sizes at all) We won’t know what Elijah will achieve and what he won’t. We have no idea at all how badly it may or may not affect him. Also, as he can’t just ‘grow that part of his brain back,’ there is no cure. Scientifically, it is much more than this. (You can read more about CDG here)

Elijah is now 4 years old, and he started school this September. He is the happiest, cheekiest, funniest, sweetest little boy. He is sunshine. Unfortunately, Liam and I didn’t stay together, but now Elijah has an even bigger family and has even more people wanting to be in his life. Elijah splits his time between our home, and Liam and Paige, Elijah’s bonus mum’s, home.

son having fun outside on the swing
Courtesy of Ali Hawkins
mom celebrating the birthday of her child
Courtesy of Ali Hawkins

At 4 years old, Elijah is unable to stand or walk unaided. He cannot sit for long periods unsupported, and he is unable to crawl. Although Elijah’s speech is very limited, he understands a lot. He understands both English and Cantonese, and he always knows exactly what he wants and exactly what he does not want. He is stubborn and passionate at the same time. Elijah’s and our days as parents are filled with scheduling phone calls to meet with physios, occupational therapies, endocrinologists, dietitians, neurologists, ophthalmologists, cardiologists, dermatology teams, speech and language teams, and metabolic teams. We travel all over the country to get to his appointments when we aren’t able to get into our local hospital or when we are meeting specialists. Weeks with Elijah go so quickly because we are constantly planning our next appointments and meetings.

Life with Elijah is a whole mix of emotions. It is terrifying and it is exhausting. It can play havoc with our mental health especially when we are all trying to hold down full-time jobs and run homes too. It can be heartbreaking, and it can physically break us at times. It is often overwhelming, and we spend days filled with anxiety. But, at the same time, life with Elijah is funny. It is happy. It is our absolute best days. We laugh with him until we cry and have bellyaches. You spend hours playing football with him because kicking the ball is the best thing in the world to him that day only for him to hate it the next. He is the cheekiest little boy. Liam, Paige, and I adore the whirlwind life of being parents to Elijah. It is exhausting, and it is terrifying, but it’s the most amazing journey we’ve ever been on.

Most days, we can handle CDG. Most days we boss it, and most days we don’t even give his condition a second thought. But some days, it really is awful, and it really does hurts. However, Elijah makes every single day brighter, happier, and just better. He is the most resilient child. Elijah is strong, and he is a proper fighter⁠—this boy is the definition of a warrior. Glycosylation won’t define who Elijah is⁠—this boy shines through far stronger than his condition ever could.”

family of three all together
Courtesy of Ali Hawkins
mom with her son, Elijah
Courtesy of Ali Hawkins
Son his older and living life
Courtesy of Ali Hawkins

This story was submitted to Love What Matters by Ali Hawkins.  Submit your own story here, and be sure to subscribeto our free email newsletter for our best stories, and YouTube for our best videos.

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