The story of Samuel
Samuel was born on the 21st of December 2020.
At first everything seemed fine, then after a few hours he wasn’t holding his temperature and it was a lot lower than it should be.
The nurses took him to the special care nursery to warm him up under the heaters and monitor him.
They got his temperature up and brought him back to me on the ward.
The next day he was very lethargic and his temperature was low again so back to special care he went.
While there, the doctors had an ultrasound done on his brain as they had discovered some fluid on his brain in the final pregnancy scan, they weren’t concerned at the time and thought it would correct itself.
It was worse. He then had 2 MRI’s. The fluid and swelling of the ventricles was really bad. So they started testing for infection and started giving him antibiotics.
They found no infections. Then they started genetic testing.
At a few days old, a room full of doctors and specialists sat us down and said they were concerned and said Samuel would either, best case scenario have behavioral issues or worst case scenario have Cerebral palsy.
After 12 days in the special care nursery, after many tests, Samuel having to put weight on and keep his temperature stable, we finally got to take him home.
2 days later we were back in the hospital on the children’s ward because they thought he had an infection, he was given the all clear and back home we went to try and get used to home life.
At 5 weeks old we had a telehealth appointment with the Neurologist at the Queensland children’s hospital in Brisbane.
They told us they believed Samuel had a very rare genetic disease called Aicardi Goutieres syndrome, type 5 SAMHD1 genetic mutation.
They said his diagnosis was severe early onset. They said that he would not walk, speak properly, eat normally and many other challenges.
We were devastated!
Today, Samuel is just 14 months old.
He takes 6 medications per day, twice a day to help manage his symptoms.
He has seizures, exaggerated startle reflex, dystonia, increased tone, feeding issues, irritability, chilbains, inflammation, constipation and has most recently been diagnosed with Congenital Glaucoma that he recently had surgery to treat.
He can’t crawl or sit or walk or hug or eat normal food, or hold his toys.
He is fed with a feeding tube.
He goes to physiotherapy and occupational therapy every week as well as many other medical appointments.
Life is a daily struggle for Samuel but he is so brave and such a warrior!
He brings us so much love and joy with his cuddles and cheeky smiles and giggles.
He has 3 adoring big brothers; Jordan, Zechariah and Mitchell, with his loving parents Mummy Amber and Daddad Nicholas.
Every day with him is a miracle and a gift.
Aicardi–Goutières syndrome (AGS), which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually early onset childhood, inflammatory disorder most typically affecting the brain and the skin (neurodevelopmental disorder). The majority of affected individuals experience significant intellectual and physical problems, although this is not always the case.
AGS can occur due to mutations in any one of a number of different genes, of which seven have been identified to date, namely: TREX1,RNASEH2A, RNASEH2B, RNASEH2C (which together encode the Ribonuclease H2 enzyme complex), SAMHD1, ADAR1, and IFIH1 (coding for MDA5).
This neurological disease occurs in all populations worldwide, although it is almost certainly under-diagnosed. To date (2014) at least 400 cases of AGS are known.
In about ten percent of cases, AGS presents at or soon after birth (i.e. in the neonatal period). This presentation of the disease is characterized by microcephaly, neonatal seizures, poor feeding, jitteriness, cerebral calcifications (accumulation of calcium deposits in the brain), white matter abnormalities, and cerebral atrophy; thus indicating that the disease process became active before birth i.e. in utero. These infants can have hepatosplenomegaly and thrombocytopaenia, very much like cases of transplacental viral infection. About one third of such early presenting cases, most frequently in association with mutations in TREX1, die in early childhood.
Otherwise the majority of AGS cases present in early infancy, sometimes after an apparently normal period of development. During the first few months after birth, these children develop features of an encephalopathy with irritability, persistent crying, feeding difficulties, an intermittent fever (without obvious infection), and abnormal neurology with disturbed tone, dystonia, an exaggerated startle response, and sometimes seizures. Glaucoma can be present at birth, or develop later. Many children retain apparently normal vision, although a significant number are cortically blind. Hearing is almost invariably normal. Over time, up to 40% of patients develop so-called chilblain lesions, most typically on the toes and fingers and occasionally also involving the ears. They are usually worse in the winter.