Alternating Hemiplegia of Childhood – A Genetic Disorder – What is it and how can you understand it better?

February 18th, 2023, John and I decided to give our girl a chance. She had received a difficult diagnosis a week earlier – a diagnosis we were at the very first step of learning. She had symptoms other children didn’t have, and the symptoms other children had were ones that would change my girl’s life forever. I heard words such as hemiplegia, cognitive delay – statements such as “She may never walk” or “She may actually go to school like a typical child, but with an aid” We made a choice, John and I, one to extubate Paige – give her a tracheostomy – and see what life is like. Give her a chance, even though we had no idea what this diagnosis meant. 

Alternating Hemiplegia of Childhood – such a strange name. It doesn’t sound like anything I had heard of, I didn’t even know what hemiplegia was. Does childhood mean it ends in childhood? And alternating, what does that mean? These were the questions rushing through my head when I learned of this diagnosis. Then, the fear of knowing that this diagnosis was actually just a really good guess based on data – a guess based on one gene, the type of gene it was, and a few hundred other patients with the same change. 

What is “Alternating Hemiplegia of Childhood”?

I could get pretty medical with you, but I want to make it “short and sweet”. Something you can understand and take to your friends, to tell them about this strange disorder that a cute little girl you know has. The more information, the more help can be given and received. However, if you want to get a lot of details, this is a great video to explain some of that:

An easy way to understand the medical source of this disorder is by stating it this way: a little pump in Paige’s brain that controls electrical activity is defected. Therefore, the way her brain processes information is now damaged, and it doesn’t work properly on an episodic basis. You can view this article to show a detailed summary of the neurological processes that are affected: MedlinePlus.gov/ATP1A3

What does AHC look like for Paige?

As you can see, I added the “for Paige” part since the more you learn about this disorder, the more you will understand that every single patient is different. For example, Paige will stop breathing randomly – this is not typical. She has a tracheotomy – that’s not typical either. Some children can eat properly, others can’t. It is simply random – making it even more grievous for parents at the beginning of their journey. For Paige, here are some symptoms she has that could stay the same, get worse, or get better. All definitions below are a simply summary of google definitions, none of them come from one source.

Hemiplegia

This is the most common symptom, and how the disorder got its name. What does it mean? Well, it means that Paige will have paralysis that comes and goes, and changes sides/limbs. So for example, if you meet somebody that has lost function of their lower half, they are paralyzed from waist down. This is typically due to an accident or chronic nerve issue. Paige, however, may have too much excitement – and lose function of the left or right part of her body, with no accident or injury. What does it look like? Imagine you’re holding a baby doll – it is really floppy and if you weren’t holding it it would drop. The paralyzed side of Paige feels like that. Floppy and limp, it doesn’t react when you touch it. She feels sensations on it, but she physically cannot move it. Then, it will move again – it could be minutes, hours, or days.

Quadriplegia 

This is a word you know! Quadriplegia literally means “complete loss of function in all four limbs”. This happens to Paigey, just like hemiplegia. She will have moments where she can’t move a single muscle, and is awake – aware – and she can even smile sometimes, though it is droopy. Quad is severe for AHC, but for Paige, it is actually fairly normal. It happens more than 5 times a month, and can be increased or decreased depending on the amount of stimulus and her staying in her routine. 

Dystonia 

This is a really weird one! It means “a state of abnormal muscle tone resulting in muscular spasm and abnormal posture.” It can be a tight muscle spasm that affects one side of her body, resulting in a stiffening and twisting sort of reaction. Or, it can be tiny and fast – like Parkinson’s – where her muscles contract, relax, contract, relax – all in a matter of seconds. Dystonia is painful for Paige, unless she is paralyzed (can’t feel most of it) or she is unaware of her surroundings or feelings. Dystonia is one that typically is brought on instantly by too many people talking, someone who is stressed/anxious around her, or something like teething. She is smarter than you think and feeds into everything – even passive agressiveness or mama being a little stressed one day…I can usually help her through it simply by taking away the stimulus or holding her close and singing while rubbing her tight muscles.

Severe Central Apnea (unique to Paige)

The technical definition of this is “a serious disorder in which a person repeatedly stops breathing”. Typically, this is a symptom that occurs during sleep for other people. However, for Paige it is the opposite – it happens when she is awake, and it stops when she is asleep. Her breathing issues can be anywhere from her not breathing for 10 minutes, to her losing all ability to breathe for 4-24 hours. The longest we believe was possibly 72 hours – that is when we almost lost her at 9 weeks. This tends to look like her inhaling 3-4 times per minute, but not exhaling. It can also look like her stopping completely, then gasping for air 2 or 3 times per minute but not being able to continue breathing normally. Central apnea for her typically combines with total body paralysis (sometimes she can’t even blink), dystonia, nystagmus (abnormal eye movements) and reduced consciousness. This is what we call a “severe episode”, and for Paige it happens on average once every two months. This is why she has a trach. 

The above symptom is one that we haven’t yet met anyone else with – typically children have sleep apnea, or they struggle breathing while they’re in quad. However, Paige will stop breathing on her own for hours – without oxygen and ventilation, her blood gas levels would be deathly and she would probably pass from this life. Hence the reason we have a ventilator and oxygen at home – to take care of her when her brain decides to stop breathing. 

Long Story Short…

Paigey is very special. She indeed has a disability – she will be dependent on other able bodied people to take care of her for the rest of her life. Yet, I would never trade the fear, adrenaline, and broken heartedness of these symptoms for a world without my daughter’s smile, her kisses, and her constant example to me of how to live in this world with suffering, and still have joy in her heart. Praise be to God for allowing the light to shine through, even with a disorder called Alternating Hemiplegia of Childhood. 

Additional Resources

AHC Kids Foundation Website: http://ahckids.org

AHC Kids Foundation Video: https://youtu.be/ljb-Y_f1kHs?si=DwbVe9dfxv9OHSRy

“One in a Million” https://youtu.be/NCkLXY3LxYc?si=b3jNEcpo1-HStGNn