Christian Mumm was given a 50 percent chance to see his first birthday.
That is what doctors told parents Erica and Edward Mumm shortly after he was diagnosed with a rare genetic disorder called KCNQ2 encephalopathy, causing severe epilepsy and developmental impairment.
Erica Mumm, Christian’s mom, said the seizures happened as often as every five minutes.
"It was very challenging," Mumm said. "He could not eat by himself, he had seizures very frequently which required oxygen."
Christian had seizures so often, he would eventually be admitted to New Britain’s Hospital for Special Care. There, he was given Potiga, an anti-epileptic seizure medicine. On this medication, Christian went days without a seizure, something he had never done before.
"Once we started him on the drug, we immediately noticed a change in level of seizures, which pleased the doctors immensely," said Mumm. "It was like a designer drug made for my son."
The drug, however, is slated for permanent removal from the market at the end of June.
Drug maker GlaxoSmithKline said in its announcement that the drug is being permanently discontinued due to, "limited usage of the medicine and the continued decline in new patient initiation."
Potiga has FDA approval for adult usage, but use for children is considered "off label" usage.
GlaxoSmithKline spokesperson Anna Padula said as few as 1,500 patients with epilepsy are treated with this medicine globally, with numbers continuing to decline.
"Potiga is the only drug of its kind currently being sold," said Mumm. "There is no other drug that is designed for KCNQ2 medication."
Online, a growing network of families is asking the drug maker to keep Potiga on the market, or at least make it available to families for "compassionate use", manufacturing just enough of the drug for their use.
KCNQ2 Cure Alliance co-founder and director Scotty Sims said new parents are still contacting them about Potiga. Their organization has a liaison working with GlaxoSmithKline for a possible solution, but the plan for full discontinuation is still scheduled.
New Britain Pharmacist Kristyn Dombowski said discontinued medications are rare.
"It is uncommon and it is shocking for families and pharmacies and even healthcare providers," said Dombowski. "There is lots of research going on and there could soon be a drug coming to market that is ten times better."
Without the medication, Ed Mumm expects the seizures to return.
"We don’t know what will happen and how it will happen," said Mumm.
"It is a sad reality that someone is making a decision on the healthcare of my child based on profits."