At 6 months old our beautiful baby boy was diagnosed with a genetic disorder called Alternating Hemiplegia of Childhood (AHC). His diagnosis came after a few months of countless hospital stays, ambulance rides and more testing than one could imagine for their baby. When genetic testing was initially discussed we never thought they would find anything never mind a disorder so rare they only estimate 1 in a million affected. In the 6 months since his diagnosis we have learned as much as we could about this rare and unusual disorder and the term we had never heard of a year ago, AHC, has now become a regular phrase in our home. We have an amazing team of doctors that have been working unrelentingly on finding a treatment that will help our sweet boy and limit his episodes. Unfortunately there is no current treatment to date and we have yet to find anything to help prevent or limit his episodes. Researchers are hopeful however that a cure and/or treatment can be found as they have now discovered the gene that is affected. Research is slow and limited however due to minimal financial assistance. It is
extremely difficult to get funding for rare disorders and it is mostly up to the families that have children with these disorders to raise money.
Due to the nature of Cameronʼs episodes and the constant unknowns about when they will happen or how long it will last or how severe each episode will be I have not been able to work very much at all this year. The disorder seems to always change as well, you have probably heard me say that I live minute to minute these days and it is 100% true. We still have had many hospital stays since his diagnosis as he sometimes need more care and a closer watch than I could provide at home. Cameron is a strong boy and a true fighter - I never understood when I would hear parents say that before about their babies but you can see it so clearly! Lately his episodes have lasted days to weeks with one side paralyzed or stiff and alternates between the two. These long episodes set him him back developmentally as it is very hard to learn new things when half of your body doesnʼt work. He is a fun-loving amazing boy with the sweetest personality and
love for his family especially his brother and he deserves a chance to live a life that is free of unnecessary pain and frustration and we will keep fighting for him.
This fundraiser will not only help us with the medical expenses and seemingly endless medical bills with less a salary, but it will also provide money toward research to continue looking for a treatment and a cure for this awful disorder.
Our vision has always been to bring more awareness to Alternating Heliplegia of Childhood (AHC). In doing so, we intend to raise money to help fund research into finding a cure for AHC.
As AHC is such a rare disease it is not really known or understood by anyone else other than those directly affected by it. With more awareness comes more understanding and more drive to find a cure.
There are a variety of research projects happening globally mostly funded by charitable organisations. A research project lasting 12 months will often cost between $125,000 and $250,000. While there have been great advancements through research at Vanderbilt, Northwestern and Duke Universities the funds have to come from private fundraising efforts to help keep the momentum. These projects are key to finding out the story behind the mutating genes, what causes it and most importantly what can be done to stop it from happening.
“Research is the key to finding a cure.”
About Alternating Hemiplegia Of Childhood (AHC)
AHC is a rare neurological disorder in which repeated, transient attacks of hemiplegia (paralysis of a portion of the body, including the face) occur, usually affecting one side of the body or the other, or both sides of the body at once. It ranges from simple numbness in an extremity to full loss of feeling and movement. The attacks may last for minutes, hours or even days and are normally relieved by sleep. The attacks of hemiplegia typically alternate from one side of the body to another, but it is not uncommon for one side to be more frequently affected, or for episodes to begin on one side, and then switch to the other.
AHC episodes are often associated with triggers that precede or induce the attack. Triggers for AHC episodes may include–but are not limited to–environmental conditions (such as temperature extremes or odors), water exposure, physical activities (exercise, swinging), lights (sunlight, fluorescent bulbs), foods (chocolate, food dye), emotional response (anxiety, stress, fright), odors (foods, fragrances), fatigue, and medications.
The Symptoms of AHC:
Children with AHC exhibit a wide range of symptoms. These include tonic attacks (lack of muscle tone), dystonic posturing (stiffening of extremities), ataxia (lack of coordination when performing voluntary movements), nystagmus (fast uncontrollable movements of the eyes that may be side to side, up and down, or rotary) and other ocular motor abnormalities (eye disorders), developmental delays, and seizures.
Up to 50% of children with AHC develop “true seizures” sometime during the course of their illness.
The Diagnostic Criteria for AHC are as follows:
1.Onset of symptoms prior to 18 months of age
2. Repeated attacks of hemiplegia that alternate in laterality (meaning that the paralysis alternates from one side of the body to the other)
3. Episodes of bilateral hemiplegia or quadriplegia as generalization of a hemiplegic episode or bilateral from the beginning
4. Relief from symptoms upon sleeping, which may later resume after waking
5. Other paroxysmal disturbances, including tonic or dystonic spells, abnormal involuntary eye movements, or autonomic symptoms which may occur in addition to the hemiplegia attacks or independently
6. Evidence of developmental delay or neurologic findings such as choreoathetosis (a type of involuntary, continuous and flowing movement), dystonia or ataxia
The incidence of AHC is estimated at roughly 1 in 1,000,000 births, however, the true incidence may be higher since the disorder is commonly misdiagnosed due to the lack of awareness about AHC and the variability of its clinical features.
What are the long term effects of AHC?
Although the disorder is named of “childhood” those affected by AHC do not grow out of the disorder. The AHC episodes may change and sometimes even decrease in frequency as a child gets older.
Every child with AHC is unique, and children can be severely or mildly affected. However, as children get older, developmental problems between episodes became more apparent. These developmental problems may include difficulties in fine and gross motor function, cognitive function, speech and language and even social interactions. There is developing evidence that AHC may cause ongoing mental and neurological deficits with a progressive course. Early intervention for such children is extremely important to help maximize their developmental achievements.
Although there is no proof that the disorder limits life expectancy, these children do appear more susceptible to complications such as aspiration, which can sometimes be life-threatening. In rare cases, children have died suddenly and unexpectedly, in circumstances similar to the sudden death reported in patients with epilepsy (known as SUDEP, or sudden unexplained death in epilepsy). For this reason, careful evaluation to identify problems which could be associated with such episodes is a critical part of the care plan for these patients. Monitoring oxygen levels and insuring safe management of secretions may be needed during severe episodes.
Currently there is no cure for AHC but in 2012 the ATP1A3 gene was identified as a leading cause of AHC and represents approximately 76% of those affected. Ongoing research will hopefully provide a genetic identification for the remaining patients and a treatment for all. Presently, medicinal treatment options are extremely limited. The medication Flunarizine (trade name Sibelium), is a calcium channel blocker and has shown some effectiveness in reducing the severity, intensity and/or duration of paralytic episodes, but is not an effective treatment in all cases.