Written by Fiona Culley Langham, Huxley's Mother.
When you have a baby your whole world is rocked. Suddenly, you are the keeper of the greatest gift. You question everything and spend a lot of time worrying about doing things right. Well, at least I did.
My sweet boy was 3.5 months old when he first gave us the fright of our lives. One night late in November, I was taking him up to bed and noticed to my horror he wasn’t breathing. His tiny little body was limp and I noticed flickering of his eyes (absent gazes we would soon find out that these are the hallmark signs for his condition). Without a second thought I ran out of the house and went straight to the ER. When we got there he was smiling and seemed back to his usual self and even I started to question my extremely tired postpartum brain. Then it happened again, this time front of the doctors. I sadly hadn’t imagined it. This was the beginning of one of the darkest days for our family.
So 40 days of pure torture began. We were in and out of the hospital with no answers. Just waiting for the next episode. The third dash to the emergency room led to another few day stay and rescue meds that just weren’t working. My husband started researching feverishly. He locked himself away and read and read. By some miracle he came around my sons condition in the middle of the night. During the doctors rounds the next day he suggested GLUCOSE Transport deficiency to the team of neurologists... it was met with shoulder shrugs once again. This time the agreement was made that we would have a full genetic testing done. Usually this tests take 5/6 weeks to come back but once again we received a miracle. After transferring to a different hospital, because we just weren’t satisfied or honestly capable to just sit at home and wait, we received his diagnosis at 5:05pm on New Years Eve. It was utter devastation. New Years Eve had been a special night for us. The year before I slipped a positive pregnancy test into my husbands hand and the year before that he slipped an engagement ring on my finger.
Looking back those 40 days felt like years. I watched my sweet baby drugged up on seizure medication slowly slip away from me. All he did was feed and sleep. He needed energy and my breastmilk (Dr. Devivo the Dr. who first discovered Glut1 calls breast milk Natures Medicine and naturally keto).
GLUT1 also known as Glucose Transport deficiency. It's a rare genetic condition that impairs brain metabolism. Glucose isn’t transported properly into the brain, which creates energy issues and prevents it from growing, developing, and functioning the way it should.
Sadly, being that this condition is so rare, many physicians don’t know about it and due to this the average age of diagnosis is 4 years old. By then, the brain has been living without sufficient energy causing seizures, speech and movement disorders, and developmental delays.
There is currently no cure for Glut1. Although there are Gene Therapy’s being trialed and this is promising for Huxley's future.
The standard of care treatment is a ketogenic diet. This low carbohydrate, moderate protein, high fat diet causes the body to produce ketones, which are used as an energy source by the brain and other tissues when glucose is limited. The diet helps most patients with most symptoms, even in adulthood. A ketogenic diet also helps preserve brain growth and development, so early diagnosis and treatment is critical.
We understood that the sooner we could get Huxley into ketosis there was a huge chance the seizures would stop. January 1st 2021 the day after diagnosis, we started the keto diet as in patients at the Vanderbilt Hospital in Nashville. Huxley had to be breastfed from birth and although we could still use some breastmilk it would need to be measured and ketocal formula and MCT would need to be added. As hard as breastfeeding had been for us with his constant need to feed, to be told it had to end immediately was crushing. Huxley made it easy for me. I think in some way he knew he felt better on the new formula and he transitioned to bottle only without a problem. Sadly, the stress and pressure of pumping and caring for my sick baby was too much for me. This is where two friends stepped in and donated milk to us. One of which still does to this day and we will be forever grateful for them. We call our sons milk brothers.
Understanding the medical ketogenic diet was not easy. Everything is weighed to the gram. We began at a 3:1 ratio. This means 3 parts fat to 1 part protein & carbs. We have since gone down to 2:1 as Huxley has made excellent ketones. We check his blood ketones and blood sugar daily. He just started crawling everywhere and is burning the small about carbs he gets in his diet so it feels like a constant science experiment. I keep apple juice and berries on hand at all times.
His day right now consists of a lot of snacks. Yoghurt measured with cream. Avocado & eggs, creamed spinach, chicken sausage with avocado Mayo. I have started to bake too, using recipes from the ketocal website & sweet as honey blog. Keto Pint Cookie Dough Ice Cream is his ratio so finding a food that I don’t have to mix and measure is a game changer.
We have been so fortunate with Huxley's early diagnosis. Every day counts with brain energy. He is thriving. We have had no more seizures and although we take it day by day he is developing on point.
Although, it hasn’t been easy there are still times I break, I have to remember how fortunate we have been on this journey. We have been surrounded by incredible friends that I couldn’t have done this without. My parents are in England and haven’t been able to come over to meet him yet. That has been extremely hard for us all. My friends have stepped in to try and fill that void. I thank my husband daily for his mind. For figuring this out so quickly. He used his engineering mind and he saved my baby.
Do I know what Huxley's future holds.. no.
All I know is that my job is to take the best care of him. Make keto foods to keep him interested and to keep his little brain working.
We are celebrating his first year. We MADE IT. There was a time I thought we wouldn’t.