Having a child with a rare genetic condition can feel isolating. But you are not alone. Your challenges and your joys are shared by many other families who understand the journey you are on. Here we share stories of the incredible families affected by Smith-Kingsmore syndrome.
Zachariah
On 22 March 2021, I found out I was pregnant. It was the day before my husband and I’s four year wedding anniversary. What a wonderful anniversary gift. Being new expecting parents, we were excited and terrified at what laid ahead for us. During the pregnancy, I had prenatal genetic screening done to detect any chromosome abnormalities or deficits, such as Down Syndrome. All results came back negative. I also had additional genetic testing done to see if my son…
Martha
Martha’s story begins at our 34-week growth scan (Thursday, 15th June 2017). Our pregnancy had been wonderful and all the tests, the 12-week scan and the 20-week scan came back clear and showed that we had a healthy baby and there was nothing to worry about. My sister had lost a baby through complications with the birth, so we were being monitored closely. Although the doctors couldn’t say for certain whether the same could happen to us, we were booked in…
Aubrey
Meet Aubrey! Aubrey’s story started when she was just a week old. I made a post on Instagram with a sweet picture of her with an offhanded comment about how she always held her head a certain direction. Someone commented that she might have torticollis. At her one-month check-up, we discussed this with her pediatrician who was not concerned. However, we decided to bring this up to our chiropractor who was concerned this was more than torticollis and she urged us…
Bella-Rose
Meet Bella-Rose! Bella-Rose’s story started at just one week old when the health visitor came to visit. Bella’s head circumference had already grown a few centimeters and we were referred to the pediatrician at Queen Alexander Hospital, UK. When Bella was 6 months old, she was diagnosed with hydrocephalus and were referred to Southampton Hospital, UK. We were told she had very enlarged ventricles and a web like blockage in her third ventricle. Bella was not meeting…
Kohen
My Smith-Kingsmore warrior’s name is Kohen! Our journey with our sweet boy started when I was around 20 weeks pregnant with him. He had two markers for Down-Syndrome (thickened nuchal skin fold and ventriculomegaly). We had the blood test performed and it was negative. Kohen was born five weeks early, but he was perfectly healthy and did not have to stay in the NICU. When he was around six months old, I took him to see his pediatrician because he had a cold…
Oscar
Our journey began before Oscar was even born. At our last ultrasound they noticed he had enlarged brain ventricles and was being monitored for that until he was born 5 weeks premature at 8lbs. We spent 16 days in the Neonatal unit at the Red Deer Regional Hospital in Alberta, Canada. At Oscar’s 2-month immunization visit we were referred to a physical therapist because Oscar was developing a flat spot on his head. From there we continued going to therapy…
Thomas
Meet Thomas from Ireland! He will be four on April 1st. When I went for my 22 week prenatal scan, it showed that Thomas had large ventricles and I was sent to Dublin for fetal brain MRI which showed Ventriculomegaly (enlargement of the ventricles) and severe hydrocephalus (buildup of fluid within the brain). After Thomas was born, he showed delays in his development. A chromosomal microarray showed he had a deletion on chromosome 3, and soon after he started…
Novak
Meet Novak! Everything started during pregnancy, an ultrasound discovered that Novak’s brain ventricles were a bit enlarged (ventriculomegaly). We had more ultrasounds and a fetal brain MRI. We saw a neurologist, but they said everything was fine. Novak was measuring big, so they also did a test to check for Sotos syndrome which came back negative. At birth, Novak was a big baby at 4850 grams, 55 cm length, and 40 cm head circumference. Unfortunately, he had low oxygen…
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…
Ezra
Meet Ezra! Ezra was born on September 1, 2016. Ezra’s journey began when he was two weeks old. We first noticed some light colored swirls on his legs. When we addressed it with his then pediatrician, he told us it may be a type of birthmark and we should monitor it. Between 4-6 weeks of age, Ezra’s head grew significantly. We also noticed that the swirls were more prominent and were all over his body from his neck down. There were also areas on his lower legs that now had darker…
Elli Rose
Meet Elli Rose from Australia! She started early intervention shortly after birth due to hypotonia (low muscle tone), swallowing issues, and developmental delays. She has been receiving speech therapy, physiotherapy, speech therapy, and occupation therapy since she was an infant. She was also referred to neurology as an infant due to enlarged ventricles and megalocephaly (large brain). She has been through different genetic testing since birth. Finally, last year, she was diagnosed with SKS…
Jack
Meet Jack! The journey to our 17-year-old son Jack’s diagnosis of SKS took 15 years to accomplish. It was one we never expected to take. During my pregnancy, the obstetrician noticed Jack’s head was measuring much larger than is typical. His body showed markers for Down syndrome and dwarfism, however, both tests came back negative. We were told he just had a big head like Mike! Jack was induced at 36 weeks 3 days gestation due to low amniotic fluid and topped the scales at 8 lbs 14 oz…
Pete
Meet Pete! My husband and I were expecting our first child on Feb 16th, 2015. When we saw his little foot on the ultrasound we were in love. Our first screening test came out positive for Spinal Bifida, but anatomy ultrasound cleared any of this abnormality. When Pete was 20 weeks in my tummy, his head was measuring two weeks larger, when he was 30 weeks, it was 6 weeks ahead. Pete was born 37 weeks on Jan 29th, 2015. He was 9lb 12 oz, 15 inches, and HC 15 inches. His 3 min Apgar score was…
Charlie
When I was pregnant with Charlie, my OB was concerned about his head growth. When he was born, his head circumference measured in the 99% range while his weight and length were in the 25-50% range. However, he was a happy newborn and seemed healthy. At 2 months of age, Charlie was hospitalized with a blood stream infection and UTI. Although he recovered well, he was delayed in meeting developmental milestones and he had significant hypotonia (low muscle tone)…
Lilly
Meet Lilly! My sweet, little Lilly’s story began three weeks early on June 24, 2016 at only 4lbs 7oz. Spending only a few hours in the NICU and failing her newborn hearing test was only the beginning of our new adventure. At two weeks old Lilly was diagnosed with a VSD, a hole in her heart. She was tiny, but doing well. All we knew was that we had our beautiful, rainbow baby. At two months old, she was failing to thrive and required a feeding tube. She also had a difficult time swallowing thin liquids…
JJ
Meet JJ! Jameson Daniel Walsh was born on March 1, 2016. There were no complications during birth and he passed the newborn hearing screen. His older brother could not pronounce “Jameson”, so somewhere in the first week when “JJ” emerged from big brother’s mouth, it stuck. Right away, we could tell that something was off with JJ. He was much smaller at birth than his older brother, had severe colic, failure to thrive, constant ear infections, and was developmentally delayed. At the same time…
Charlotte
Meet Charlotte! Charlotte was born a beautiful, healthy, baby girl with no real acknowledgment of any underlying issues. She had a tongue tie, and eventually developed a hemangioma on her forehead, but nothing super suspicious as many babies have these things present at birth. At 4 months old, we realized Charlotte was not visually tracking objects and she began early intervention soon thereafter as a vision impairment usually qualifies the child for all the services…
Olivia
Livvy Syndrome No More! Olivia was born in November 2008 at 36.4 weeks after a stressful pregnancy with bleeding plus concerns regarding her head circumference and length of limbs. When she was born, she weighed 3.4kg and the Midwife comments were “appearance of a full-term baby” with a large head 38cm – we put that down to lots of people on both sides of the family having large head circumferences. Within the first month of her life Livvy showed signs of failure to thrive…
