In Loving Memory of Foster
Foster was the first SKS boy we met back in 2018, a boy full of smiles and wonders.
My heart has been aching since he went to heaven in spring 2022. I made this page hoping to help prevent any more tragedies in the SKS communities. 11/20/2022
Although Smith Kingsmore Syndrome doesn't present any immediate life-threatening symptoms directly, there are some risks that caretakers and doctors want to be aware of.
Not all on this page apply to everyone, but here are things you should watch out for.
Watch out for
It's amazing to learn how we get used to anything as we take care of SKS kids, but Epilepsy is by far the nerve wrecking thing for a caretaker. Sometimes, the first medication we try works and manages epilepsy for several years. Sometimes we keep trying new and multiple medications. Try getting a good balance of benefits and side effects, which usually gets better over a few weeks to few months. Stopping a medication with short-time effects could be dangerous, so find a way to not forget a dose.
When an seizure starts, try calming down, and lay your child with the left side down on the floor. Don't put anything in the mouth. Turn on the lights if it's dark, and try observing the child and measure the time so you can describe it to a doctor later.
Pay attention to if lips turn blue. Ask a neurologist to teach you what to do when it happens, and when to call 911.
(I later will write more on types of Epilepsy, and how I've been managing it with medication, diet, and more.)
Autism and ADHD
Almost all SKS develops autism sometime in childhood, and compared to the general public, autism itself presents increased risks of fatality from epilepsy and accidental injuries. Discuss with your health professional about prevention, such as securing furniture at home.
Aspiration and Choking
Some SKS have feeding issues, such as chewing, swallowing, choking, aspiration (food and drinks go to the airway and lungs), and pneumonia.
Some people cough up well, but finding out if silent aspiration (aspiration without coughing) is occurring requires a swallow test. If your child coughs often during meal, do the swallow test and follow the feeding therapist's recommendation. Restricting diet for safety might mean a loss of opportunity to practice chewing or swallowing, so ask your feeding therapists on how much room your child is allowed to practice a new food or drink. (For example. Elizabeth is not allowed to drink clear liquids, but a few sips of pure water or salted ice water a day is allowed).
Some mTOR inhibitors like Rapamycin and Everolimus might work as an anti-epileptic drug, but also function as an immunosuppressant, IF the dose is high, stopping it before a "live" vaccination or during sickness is recommended by some doctors. (Non-live vaccines are fine). Some have no issues at all even with a high dose, but make an emergency plan with your prescribing doctor and epilepsy doctor to discuss the timing of stopping and resuming mTOR inhibitors in certain situations. Also, please discuss the following with your doctor:
1. The metabolism of pediatric patients are totally different, so make sure your doctor knows that. For example, Rapamycin's serum level halves in 3-4 days (the half-life of 3-4 days), but the half-life of pediatric patients can be only 12 hours, so the time to stop the medication doesn't have to be as long as for adults.
2. The low dose is not immuno-suppressive, so there is no need to stop it completely, in my opinion. Also, some patients are fine with even a high-dose, so please remember that it varies case by case.
3. When the mTOR inhibitor is used as an anti epilepsy medicine, plan with your doctor for any alternatives while stopping the medicine.
Hydrocephalus causes builds up of fluid and pressure within skull. It's not a common in SKS at all, but more common compared to the general public. We went through many false alarms, but when it's real, a surgery is recommended to be done ASAP, like within a few to several hours.
Elizabeth didn't present any typical symptoms of hydrocephalus at all as a baby before her fontanel was closed, but if you see any lazy eyes, or a head getting too big too fast (like 1cm circumference in a week), or even if you don't see anything, it's good to be safe by checking with an ophthalmologist or better yet a neuro-ophthalmologist, and check for any evidence of increased inter-cranial pressure. Now, some SKS have raised optical nerves without a swollen blood vessel, and don't need any medical intervention. For Elizabeth, it has been either nothing or a rush to an emergency surgery. Even after several surgeries, it was hard for me and the entire medical team to judge, so it might be a good idea to share my experiences with your ophthalmologist and neurosurgeon.
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