ARCHIE
Meet Archie!
Archie was born 2 weeks early at 37+6 days weighing 9 lbs. 2 oz. He was born with positional talipes (club feet). Archie struggled to have the sucking reflex with breastfeeding or bottle feeding and we were taught how to cup feed Archie. None of Archie’s clothes fit him and I was worried his birth weight may have been wrong. At his 6 weeks check- up, Archie was referred to a paediatrician because his head circumference had grown 7 cms. Archie also cried a lot, and all the professionals would ask me if he cried a lot but never really said anything else. We saw the physio who referred up to a specialist due to his left leg. At 10 weeks old, I went to this appointment not really thinking about how this would impact us as a family. They explained that Archie would need to be fitted for Dennis brown boots and bars. I was shown stories and pictures of other children who also had positional talipes and then handed a DLA Form. This form is for support from the government in the UK for people with disabilities. I was in shock when I left the hospital, not really understanding what they meant by giving me the form. Did this mean my son was disabled?
As time went on, Archie presented with other problems. His feeding problems got worse. We suspected a milk intolerance and switched him to Soy formula which did help. Archie was not meeting any of his early milestones. I pushed to make sure he was seen at the child development unit and it is here where we got some help and support. Archie had a CAT scan, MRI, and multiple blood tests that all came back normal. He continued to cry a lot as though he was in pain, he suffered with multiple chest infections and was admitted to the hospital multiple times. It was during this time, when the anger I was feeling kicked in and I started to stand up and push for the help I believed Archie and my family needed. I asked for a statutory assessment of Archie for his education, and although Archie was really young, he has many professionals involved which helped the LA to carry out the assessment.
In September 2009, Archie started school. We continued to go back and forth to the paeditrician consultant. Archie had many tests done. The test are the hardest things to deal with. They leave you in fear of what may come back, that you just might not cope with the outcome. The sick feeling you get while you wait for the results to come in, praying they find something wrong so they can start treatment. But then the blow comes back, they are normal, NORMAL. My son was like a pin cushion, back and forth for more tests. Archie had another normal CAT scan and MRI. He wasn’t meeting any of his milestones, he had feeding difficulties, his head circumference was growing at alarming rate, he didn’t sleep, he presented as though he was blind, and his hearing seemed affected.
After searching the internet for answers, I asked if Archie could have a bone scan to be tested for Sotos syndrome, an overgrowth syndrome, which was negative. His bone scan did show a severed discrepancy of his birth age and bone age. We were referred to genetics also. Archie had multiple blood test which were all normal including a karyotype, PTEN gene, Fragile X, CGH, and other gene specific tests. I had begun to give up and just concentrated on making sure he had all the help and support he needed to develop skills, even though we had no answers. We knew all the medical terms for his little difficulties that when put together became very complex issues and global development delay and learning difficulties.
List of all of Archie’s difficulties at this point: Large head (macrocephaly), Club foot, Hypotonia, Re-accruing chest infections & Bronchiolitis, Feeding difficulties, Failure to thrive, Delayed bone age (at 2 years old his bones were that of a newborn), Short statue (now growing fine), High arched roof of mouth, teeth grinder, Milk, gluten, & wheat intolerances (outgrown by 4), Sleeping difficulties, Possible myoclonic jerks (epilepsy), Cataplexy (random out of context laughing), Stable alterative esotropia (squint), Cortical Visual Impairment (CVI), Sensory processing disorder, Unusual high or low heart rate, Issues with blood sugars, Constipation, Abdominal pains, Dysmotility gut, and Dystonia attacks of the bowel.
In December 2011 we were passed onto the DDD study (Deciphering Developmental Disorders). I was so fed up of all the normal results. I requested we see a new paediatric consultant, a fresh pair of eyes who went over everything again. He had more blood tests due to excessive eating and drinking and a sleep deprived EEG (he previous had a normal EEG). This EEG was ABNORMAL for generalized epilepsy even though I had never seen Archie have a full seizure, he suspected it was absent seizures. Archie was 5 nearly 6 at this point. In 2014 the results from the DDD study came back with no result. In 2015 we were put in the 1000 genome project here in the UK and so far we are still waiting on those results. Archie’s gastro issues became so unmanageable. The specialist who was treating Archie wrote off to his geneticist and she decided to test him for mTOR gene variants, which she had recently read about.
In the summer of 2017, Archie had been in and out of the hospital with gastro issues. His heart rate seemed to always be high, but I put that down to puberty. He also had his first tonic clonic seizure in his sleep, but we put it down as a one off. On the 3rd of January 2018, one week away from Archie’s 11th birthday, I got a phone call from Archie’s geneticist to say they had found it. She was so excited to give me answers because she had been with us on this journey for 8 years. I didn’t know how I was feeling. It was strange to finally have answers. We now had more information. Archie has a mutation on his mTOR gene. This gene is associated with growth, cell proliferation, insulin, energy, and how your autonomic system works. I was warned the onset of puberty could happen rapidly; weight gain could be fast too. When we found out, he was 1 of 24 in the world.
On October the 11th, 2018, we visited a lovely geneticist in London who specializes in this gene and other overgrowth conditions. She explained the mTOR gene variant and in particular that this variant is believed to increase the activity of the growth regulatory pathway. As such we see increased growth of the brain, which is associated with a learning disability. She also went on to mention that this gene alteration may be associated with progressive condition and is something that we need to be vigilant about. Some children with mTOR variants can also develop metabolic/endocrine problems.
Fast forward a few months to Sunday 11th November at 8:50pm and Archie had another seizure again while sleeping. This time he stopped breathing and went blue. It felt like a lifetime but was only a short period really when he started breathing again but his breathing was very compromised. The paramedics were amazing and got him on oxygen as soon as they could. Even though Archie has always shown high risk and electrical waves of someone who potentially has epilepsy we were brushed of as that this was not epilepsy and started to feel there was a breakdown with his medical team involved who just didn’t seem to listen or care about what I was saying. He went on to have 6 more seizures. He is now under the care of a neurologist to evaluate his epilepsy.
We joined the Smith-Kingsmore Syndrome Facebook group and in October 2019 we flew out to OH Cincinnati to be part of the very first conference for SKS. It was amazing to actually meet 16 other families all with children like Archie. The learnings from this conference have been very important to get the right treatment for Archie over here in the UK. Some of Archie diagnosis like the cataplexy is now under review and because of this we have also gone on to find Archie also carries the genes that cause Narcolepsy. He will soon have a lumbar puncture to test his Hypocretin levels to confirm another diagnosis. For now, we continue on but with a better understanding. Some days are hard. I often think having a diagnosis is harder than not having one and some days I wish we didn’t know the cause. But we do and life keeps rolling by.
A summary of Archie’s Story, written by Patsy, Archie’s mother