Docs mentioned nothing might save my son. I refused to just accept that

I used to be the happiest mom on earth once I gave start to Maxwell and Riley in March 2017. But I shortly began noticing that Maxwell wasn’t hitting the identical developmental milestones as his sister. I had an ideal benchmark as a result of they have been twins, and I noticed that Maxwell couldn’t maintain his neck. He didn’t have muscle tone and he was floppy.

At first, medical doctors mentioned that boys typically develop slower than women. But when Maxwell turned 10 months, I realised he had by no means used his arms, not as soon as in his life. And once I informed medical doctors that, their tone modified – not as in ‘Well, something’s mistaken,’ however one thing is terribly mistaken.

We took Maxwell to the ophthalmologist as a result of we thought possibly one thing was mistaken along with his eyes and he simply couldn’t see. And it was the ophthalmologist who mentioned: ‘I can tell you that nothing is wrong with your baby’s eyes, however one thing is mistaken along with his mind.’ A uncommon illness, he added, was probably the trigger.

We went by way of an extended diagnostic odyssey with a number of super-invasive assessments. Maxwell bought poked and prodded a lot. We fought with our insurance coverage to get genetic testing. When we lastly did genetic testing, we bought the analysis. Maxwell had the illness that not solely had no remedy, nevertheless it didn’t also have a identify. It was ‘too rare to care’. He had a mutation in a gene SLC6A1. The medical doctors mentioned: ‘Don’t hassle Googling. Start getting ready on your youngster to not dwell.’

I was so annoyed in that diagnostic room as a result of all they gave me was a five-page article about SLC6A1 that made zero sense to me. I requested: ‘Is this all you know?’ and so they mentioned: ‘Yes. Hopefully you’ll turn into the skilled, and also you’ll educate us.’

My husband, a six-foot-two faculty soccer man, began bawling so dangerous his shoulders have been shaking. I knew proper then that if something was going to be executed, it was going to be executed by me, and that was OK, as a result of a decided mom does higher work than the FBI. I grabbed my husband’s knee and mentioned: ‘Stop crying. This is not going to be our story. This is not going to be Maxwell’s story.’ And I requested the medical doctors: ‘If your son had that, what would you do’? And they mentioned: ‘Start calling scientists.’

I give up my job as an fairness analyst that day, and began calling. I known as individuals learning my gene within the US throughout the day. I known as individuals in Europe early morning. I known as individuals in Asia and Australia at night time, asking them: ‘Can you help explain my gene and how do we fix it?’

Today we all know that there are about 500 youngsters with SLC6A1 on this planet

I came upon that the SLC6A1 gene makes a protein known as GAT1, which clears away the mind’s primary calming chemical – a neurotransmitter known as GABA. GABA acts like a brake for the nervous system, slowing issues down and holding the mind from turning into overactive. But a mutation in SLC6A1 disrupts the stability, inflicting GABA to construct up or malfunction.

Children with SLC6A1 mutation endure from seizures, so I additionally known as scientists who studied epilepsy and requested: ‘Can you study SLC6A1? I’ll increase cash so that you can examine it.’ Having a monetary background helped. I created the nonprofit SLC6A1 Connect, which helped me join with different dad and mom of youngsters with this mutation. Today we all know that there are about 500 youngsters with SLC6A1 on this planet, so the illness isn’t actually as uncommon as medical doctors thought, in any case.

Gene remedy might repair Maxwell’s downside, and there are a couple of dozen scientists on this planet who’re actually good at learning that. So I bodily flew to look every one in every of them within the eye and say: ‘I can see from your publications, you’re sensible, however I want to know if you happen to’re the appropriate match for my household.’ I simply needed to gauge in the event that they felt the identical ardour that I did to assist children, and I confirmed them photos of Maxwell and Riley.

All roads led to Steven Gray on the University of Texas Southwestern, as a result of he has this great sense of empathy and actually desires to assist youngsters. He places in 80-hour weeks, not as a result of he’s making thousands and thousands, however as a result of he loves the faces behind these anonymous illnesses. He’s now engaged on gene remedy for SLC6A1. Meanwhile, I moved my household from Denver to Frisco, Texas, to be nearer when it’s prepared.

You’d have to check gene remedy in mice first, however there have been no mice with SLC6A1 mutations. I discovered an organization in Asia that made these mice particularly to check Maxwell’s illness. We name them Maxwell mice. But gene remedy would take some time, so I began trying into what we might do for Maxwell within the meantime. He needed to take epilepsy medicine, which have horrible side-effects – tiredness, dizziness, sleepiness, temper swings. So I discovered Jeanne Paz on the Gladstone Institute of Neurological Disorders, who used the mice to know Maxwell’s situation higher.

To date, our nonprofit has raised about $5 million for analysis. So, in 2021, the nonprofit paid for a clinical trial at Weill Cornell Medicine in New York, to deal with 10 youngsters with SLC6A1 mutations with a drug known as Ravicti. This drug is often used for a unique illness, however medical doctors thought it might assist with seizures. And it did. Maxwell flourished that 12 months! He gained new expertise and commenced talking in sentences.

We’re making an attempt to determine if I want to provide him his rescue meds, or drive straight to the closest ER

Maxwell now goes to a public college in Frisco, Texas, which has wonderful lecturers for youngsters with particular wants, however this 12 months has been tremendous robust for him. He’s having freezing episodes, form of like a Parkinson’s affected person. He’s regressed this 12 months at school. He misplaced extra expertise than he gained.

I’m typically stunned by issues he can or can not do. One day he can sing together with Elvis Presley to ‘Hound Dog’, however the subsequent day he can’t bear in mind absolutely costume himself or the place his soiled garments go. Riley is an enormous assist. She’ll be within the backseat with Max and he or she’ll say: ‘Mom, Maxwell’s freezing once more, what would you like me to do?’ And I’ll say: ‘Start pinching him. Clap. Try to get his attention.’ Because we’re making an attempt to determine if he’s having a protracted seizure and I want to tug the automotive over and provides him his rescue meds, or drive straight to the closest ER.

My aim for this 12 months is to advance gene remedy into the clinic. We are elevating $4 million extra for it. I’ve thought of some attention-grabbing methods to do it: individuals put their names on buildings so I’m providing to call the drug after a charitable accomplice. Really, that’s the last word legacy – to assist so many others.

I typically take into consideration the second when Maxwell will obtain his gene remedy. I believe it’s going to be so many feelings, hope and aid however, equally, I believe I’ll really feel fairly scared as a result of he’ll be one of many first. He is a human guinea pig that we’re doing an experiment on.

The subsequent section of science goes to be patient-led. We could make issues occur

I additionally take into consideration how this journey modified me. I positively emerged from it stronger – there’s nothing a decided mom can’t do! And I’ve seen the very best of humanity, watched esteemed scientists and medical doctors drop every thing to assist one other human being. So many individuals got here collectively to assist just a little kiddo with a uncommon illness.

I put an entire community together that didn’t exist before when this was a nameless disease. And it’s no longer nameless. In 2026, it’s due to be formally recognised as a disease and included in the International Classification of Diseases, which will allow us to track the number of diagnoses. Now, when a child with SLC6A1 ends up in the ER, nurses will be able to use this code to see what medications they can use, and which are contraindicated. All that shows that the next phase of science is going to be patient-led. We can make things happen.

When people ask me how I managed all that, I thank my faith. My faith gives me a lot of strength, and I don’t know how I would have come this far without it. When doctors told me in that diagnostic room that nothing can be done, in that moment I think the Holy Spirit prompted me not to believe those words. Whatever people believe to be a higher power, I understood it as a mother, and I had the instinct and faith to keep walking, to keep going.

I still do. I don’t know if I’ll be successful, but I’m going to die trying.