“So, what’s that drug he’s on?”

Will gained access to the drug Baricitinib in July 2018 through an expanded access program offered by Eli Lilly at CHOP. Dr. Vanderver has been Will’s primary neurologist, and he is mainly managed by the Leukodystrophy team at the Children’s Hospital of Philadelphia.

Another parent wrote a great blog post about starting drug treatment for AGS as early as possible. Will’s friend Ellie began the drug treatment within a few months of being diagnosed with AGS, and she has made huge gains. Some of us see small gains, some of us see fewer flares, some of us wonder if our kid is more irritable at times. Overall, we think our kids feel better because of the drug.

Here’s a link to the post I referred to above.

Will has changed quite a bit since starting the drug Baricitinib. Most of our friends and family can see that he is thriving. He’s happier, growing, and very much aware of what’s happening around him. In June we will return to Philadelphia for a lot of testing. He will have his one year check that includes research testing, a visit with his cardiologist, and seeing his team of providers.

Thank you for following along. We feel fortunate to have such an amazing group of people caring for our boy.

Will’s Diagnosis

Aicardi-Goutières Syndrome

Also known as: Cree Encephalitis, Pseudo-TORCH syndrome, Microcephaly-intracranial Calcification syndrome (MICS)

BACKGROUND

Aicardi-Goutières syndrome (AGS) is a genetic brain disease which can be mistaken for the consequences of viral infections affecting a child in the womb. Most children with AGS show signs of the condition in the first few months of life. Features allowing a doctor to make a diagnosis of AGS include:

  • calcification in the brain
  • changes in the white nerve tissue of the brain
  • raised levels of interferon-related proteins (chemicals produced by the body to fight viral infection – but in the case of AGS found in the absence of such infection) in the blood and the cerebrospinal fluid (CSF)
  • distinctive ‘chilblain-like’ lesions on the hands and feet, which are usually worse in the cold

CREDITS

Last updated July 2018 by Professor Yanick Crow, University of Edinburgh, Edinburgh, UK. 

Although great care has been taken in the compilation and preparation of all entries to ensure accuracy, we cannot accept responsibility for any errors or omissions. Any medical information provided is for education/information purposes and is not designed to replace medical advice by a qualified medical professional.

WHAT ARE THE SYMPTOMS? 

In general terms there are two types of presentation in AGS. Some babies, especially those with AGS1 mutations (see ‘What are the causes?’), experience problems at or very soon after birth. Features include feeding difficulties, abnormal neurological signs, low platelets (blood cells involved in clotting), and liver abnormalities. In contrast, other children, develop normally for the first few weeks or months of life. They then experience the sudden onset of a period of intense irritability, cry a lot for hours at a time, sleep poorly, and can develop fevers without infection. During this period there is a loss of skills.

WHAT ARE THE CAUSES?

After a few months the disease process seems to ‘stop’. Many individuals with AGS are still stable in their late teens and early twenties. Typical neurological features of AGS include learning problems, stiffness of the limbs with poor body and head control, dystonia (impairment in muscle tone) of the limbs, and seizures (see entry Epilepsy). Although the neurological problems seen in AGS are often severe, a small number of children, usually those with AGS2 or AGS5-7 mutations, display good communication skills, and a few children can have completely normal intellectual development.

Seven different genes have been identified that, when damaged by a mutation, can cause Aicardi-Goutières syndrome (AGS). Only one gene is involved in any one family.

Will has a provisional diagnosis of AGS because he does not have the genetic markers for any of the known AGS genes. His diagnosis is based on his clinical presentation. He has interferonopathy, and there is at least one other child in the drug program like Will.

HOW IS IT TREATED?

The following treatments may be used for the management of AGS:

  • management of seizures (which are quite common in more severely affected children) using standard protocols
  • some children need tube or gastrostomy feeding because of difficulties with feeding secondary to the associated neurological problems
  • chest physiotherapy and antibiotic treatment may be needed for respiratory complications, which can occur secondary to the associated neurological problems
  • in some cases, treatments may be considered for chilblains

Surveillance includes the following:

  • assessment for glaucoma (seen in a small percentage of cases)
  • monitoring of the spine for the development of scoliosis (which can sometimes occur because of muscle imbalance)
  • monitoring for signs of insulin-dependent diabetes mellitus (IDDM) and hypothyroidism (these are rare, but treatable, associations seen in a small percentage of patients)
  • in the case of SAMHD1-related disease, there may be need for monitoring of the blood vessels in the brain with special scans