For Parents

When Dante and Virgil arrived in Hell (chant III of Dante´s Divine Comedy), they found the line "Lasciate ogni Speranza, voi ch´intrate" (all hope abandon ye who enter here — as translated by Henry Francis Cary) carved in the gates of Hell. I always thought it was the phrase for the new arrivals, a sort of "Welcome to Madrid" or "Thanks for visiting Colorado". However now I know it is not a location signal but it is the true definition of Hell.

Some months before my son was diagnosed with Menkes I thought that the torture of Hell was a price for our evil behavior. My imagination still pictured it as the chaos and anxiety showed in Bosh´s painting of Hell. However, now I know that Hell is living in the absence of hope. I am forced to accept that my gorgeous baby boy will not survive, that science doesn't know enough about him and others like him and that doctors can only help him to die.

These days I often think of one line J.M. Onetti wrote in his novel "A brief life": "The issue is not that life promises things that never give us; the evil point is that life always gives them and later, takes them away". However, it feels like my son was always there, as if he always existed.

The lack of hope impregnates my flat as a fog. It is a sticky silence that my husband tries to cover with the sound of the television; it is the discomfort that pushes every visitor away. This fog is only cleared when my son is awake because his joy is able to break through it. He is the rainbow in the mist. I am sure demons fear babies like my son because they make this world much better.

Hell is not the absence of God, because, as Father Erik says: "There is no doubt this baby is full of grace". In fact, I have never been so close to God, as I see Him in every smile, even in every cry, in every bit of my child. My baby is a miracle that just needs a bit of science insight to remain with us.

Mankind has been able to step onto the Moon, has been able to build the pyramids, regularly performs liver transplants but is not able to put copper in the brain of a baby. Whenever life becomes realistic, it often reaches pure surrealism. Yet, a few scientists, just a few, haven't given up, though they have scarce means, and if they find the cure they will never become rich or recognized by society.

The only way to combat Hell is by not accepting the unacceptable. The antonym of despair is persistence. The hellish status of this disease must change, and all of us, even those who have just read these lines, are called to it.

So the last couple days Zach's seizures haven't been good. It's left Stephanie and I exhausted both physically and mentally. We've both been up late into the night and very early hours trying to help our boy fight these episodes.

It's got me thinking about the other side of Zach's condition. It's the cruelty of it — Steph and I aren't special, we weren't both gifted super powers, we are a normal couple who met at university, got married, and decided to have kids. We never knew during Steph's pregnancy or at birth that our perfect little boy would be terminally ill.

Tell me what parent wishes to watch their own child suffer so much, to experience unimaginable pain that you can't take away. To watch them be deprived of the basics, the ability to eat and drink, walk and talk, to be told there is nothing you can do to save them and that you will outlive them.

That is our reality. Somehow Steph and I have to put on a brave smile and continue, and one day we will have to explain to our second son L what was wrong with Zach or why he lost his older brother.

Help me spread awareness of this horrible condition, help me do the only thing I can do for my boy and fight for him. Zach goes through unimaginable horror but he does so with a smile, he hasn't given up, so let's not either.

12 October 2018 — My son who is nearly 4 months old has just been diagnosed today with Menkes & we're currently in hospital due to his seizures. To be completely honest I'm broken and don't know where to turn.

29 October 2018 — I really did have so much fight at the beginning of this diagnosis — I only found out the 12th October but it's drained from me. It's so suddenly taking my boy from me.

4 November 2018 — Last month we were faced with the worst news of our lives. It crushed us completely & turned our world upside down. But seeing our boy defy the odds & carry on has made us stronger than ever.

6 November 2020 — I look into an early picture of TJ when he was under 10 days old. He looks 'normal' right? Yet if we look more closely we could have diagnosed him right then & there. Do you see how ALL of these symptoms can be dismissed as being born prematurely? Yet they are so crucial in playing a part in diagnosing a baby before the 10th day.

If your child gets seriously sick in Costa del Sol, I don't recommend the paediatric hospital that treated my child.

I will share what happened to us and hopefully some things can improve in the healthcare of small children in Malaga. We were blessed with two beautiful healthy baby boys, twins in the autumn 2019.

One day when I came to change with my husband his face was white. He didn't want to say anything but I saw he'd been crying and I didn't let him go until I knew. 'Is our son going to die?' — 'They think he has a disease called Menkes and, if so, he only has a few years.'

Doctors: "I'm sorry Ms. Evans, but there is nothing else that we can do for your son."

Me: "No, I want you to wake him and pull the tube and if he stops breathing on his own I can accept that. I will not accept anything else. By the way can you do it today so I can have him a birthday party in his ICU room please?"

Needless to say that weekend Mason had his 1st birthday party in the ICU in room 12. He was sent home on hospice in January of the following year. 6 years later let's just say we understood the assignment! Happy 7th birthday baby boy!

Alver was born in Tromsø, Norway, 06.06.2021. One day before his big sister's 10th birthday. He had such a hurry coming out, and later on I get why — he wanted his mother to get every minute she could with him in her arms.

At 5 months old he got the diagnosis, Menkes disease. Not inherited, but a mutation within Alver. Friday, 07.01.2022, 7 months and 1 day old in this world. Alver was, like always, close to me, laying on my chest, feeling my heartbeat and hearing my voice. Like that, you left this world and flew into another one. You will forever live on in our hearts.

Hoy intentaré sacar esas fuerzas que tu me dabas mi vida ayer, el dia de la madre más triste de mi vida no por que hoy sea el día de la madre sino por los 365 días que quedan hasta el próximo de nuevo sin ti.

Quiero dar las gracias a todos y cada uno de los que habéis estado a nuestro lado durante estos maravillosos 9 años de tu vida a nuestro lado, con sus sinsabores que tu con tu sonrisa y fortaleza nos decías sin palabras, ¡lucharemos!

Hola hija, Si estás leyendo esto, habrán pasado algunos años desde que lo escribí. Cinco, diez. Quién sabe.

Ser tu madre, hija mía, es el mejor regalo que me ha hecho la vida.

Daniel De Fabio keeps a personal blog documenting the life and journey of his son Lucas, who has Menkes disease. The blog is a moving and honest account of family life, medical challenges, and the small victories that matter most.

The DeMeyer family shares Baker's story — from diagnosis to daily life with Menkes disease.

A documentary produced by The Menkes Foundation exploring the experiences of families living with Menkes disease and the ongoing search for effective treatments.