Featured HIST1H1E Children & Families

Xavier was born term on the 28th April 2011. He weighed in at 9lbs. My pregnancy was uncomplicated. Xavier’s delivery was spontaneous, and he arrived very quickly, within a minutes after delivery Xavier turned a navy-blue color but remained responsive, he was given oxygen to bring back his color. During the hours after delivery concerns arose over Xavier’s breathing and this seen us being transferred to a larger hospital. Xavier spent the first two months of his life between hospitals. Doctors found Xavier had Cardiac defects consisting of a PDA and VSD, he had Hydronephrosis of the left kidney, findings on the brain consisted of Bilateral Choroid Plexus Cysts and a dead spot in the movement coordination area. Xavier experienced feeding difficulties with a poor suck and a high arched pallet and he was found to be silently aspirating. Xavier had hypotonia and hypoxia with tachypnoea and the need for oxygen therapy. He has dysmorphic features consisting of prominent occiput, bitemporal narrowing, hypertelorism, broad nasal bridge, upturned nose and micrognathia. Symptoms that have presented over the years have been undescended testes, otitis media, bilateral astigmatism, hypothyroidism, food intolerances, Significant Global Developmental Delays, and an Intellectual Disability. Xavier’s care Team consists of a General Practitioner, Pediatrician, Geneticists, Cardiologist, ENT, Surgery Team, Ophthalmologist, Physio Therapist, Occupational Therapist, Speech Therapist, Behavioral Therapist and Psychologist. November 2017 seen the long-awaited diagnosis come through confirming HIST1H1E Syndrome. 

Xavier has a very lovable and friendly personality and his smile is infectious. Xavier is delayed across several areas and what we currently see with him is that of a 3-year-old. Xavier’s communicating, he can use word approximations and low and high-tech devices to help with getting his message across. Xavier is very vocal and has his own way of communicating his needs with us. Xavier can independently walk with the assistance of Ankle Foot Orthotics, he is not toilet trained and is still fully incontinent. We currently experience anxiety issues in several different settings particularly in new or unfamiliar settings, Xavier needs structure and routine to his day also to help elevate anxiety. Xavier’s excessive want to eat all the time is still a challenge and his food intolerance still prove to be a difficult aspect. Xavier attends school and is a dual enrollment configuration between main stream schooling and a special school. Xavier achieves things in his own time and this has been a common factor in his learning patterns throughout the years. 

Through all the hardships we are very lucky to have such a caring lovable little boy who is the apple of everyone’s eye he meets. We look forward to finding out more about this gene and the many aspects of it.

Our family’s special needs journey started only hours after the birth of our beautiful baby girl, Parker. Prior to discharge from the hospital, all babies are given a hearing test. Unfortunately, our daughter didn’t pass the test. Then she didn’t pass a follow-up test at our pediatrician’s office a week later. After pursuing several more extensive tests, the hearing loss became less significant by the fourth month. In the meantime, however, we learned that our daughter had an eye condition called Strabismus (or crossed eyes). 

As time went on, we had concerns that she wasn’t hitting the major developmental milestones that most babies reach during their first year. She didn’t roll over, she was late in sitting up and she wasn’t reaching for toys. 

Fortunately, with the guidance of her doctors, we started intervention very early. It seemed that every day we saw another MD for an evaluation and a professional opinion of what was wrong. Our team included (and still includes) her pediatrician, neurologists, geneticists, ophthalmologists, orthopedists, audiologists and cardiologists. These professionals—along with physical therapists, occupational therapists, speech and language therapists, developmental therapists and even aqua therapists—have become part of our everyday routine.

It took months of waiting for the genetic testing to reveal any insights. After 14 months of uncertainty, it was discovered that our daughter had a very rare genetic disorder: She was one of just six cases in the world called DEAF1, and there was very limited information and documentation about her condition. But as most parents of special needs children know, health developments can be a roller-coaster ride. One week before her second birthday, during the Christmas holiday, we received a new diagnosis from the geneticist this was HIST1H1E. Our daughter’s information was in a database and it was now believed that she fit the profile of this new genetic disorder, discovered by a London-based MD in 2017. As of this writing, she is just the eighth documented case in the world. Given the constant advances in medicine, as well as the many unknowns, only time will tell what comes next as we pray every day that our daughter keeps moving forward.

Since our daughter’s birth, we have navigated a world that can be strange, scary and unpredictable. However, it is often filled with wonder, beauty and a sense of community. All of us look into our children’s eyes and see so much love, hope and determination. No one works harder just to get through their day than children with special needs. These children teach us and make us stronger. We feel their heartache along with our own as we yearn for just one day that’s less of a struggle for our child. We have learned not to take anything for granted. The coveted milestones become “inchstones” as we look to move forward every day, even if it’s just a little bit of progress.
 

Camden was born on June 6, 2014 three and a half weeks early via C-section after a failed induction due to preeclampsia.  Upon delivery Camden appeared to be a healthy baby boy.  He had a high Apgar score and passed his newborn hearing screen.  Camden was our first born so we did not have anything to compare our experience to.  He did not have much interest in eating in the hospital and lost more weight than usual which kept us in the hospital for just one extra day.
Once we were home the lack of eating continued and reflux began.  He continued to have severe reflux through twelve months of age.  We were not satisfied with our pediatrician out of the hospital and switched to someone new.  Our first visit with her was when Camden was 3 months old.  Upon examination she picked him up and thought that he seemed a little ‘floppy’ (low muscle tone) to her.  She referred us to see a Neurologist as well as the local Early On program through the school district.  We went to see the Neurologist when Camden was 6 months old.  She had sent us for bloodwork prior to the appointment.  We later found out it was to test for Muscular Dystrophy, which came back normal.  At the time of our first appointment she was not concerned with his muscle tone.  She stated that it was slightly low but would like for him to see a Physical Therapist and to see her back in 6 months.  We started physical therapy shortly after.  He was diagnosed with torticollis as well as plagiocephaly.  When we returned 6 months later to the Neurologist he was much stiffer and she thought perhaps he may have Cerebral Palsy.  We started OT at 12 months and speech at 15 months.
Camden remained globally delayed and the Neurologist sent Camden for an MRI when he was 17 months old.  The brain MRI came back structurally normal with delayed myelination.  We repeated the MRI when he was just over 3 years old with a similar finding but his brain had progressed with the myelination process.  We were referred to genetics once the first brain MRI came back normal.  The geneticist recommended a microarray genetic screen which came back normal.  We decided upon further testing with the whole exome test.  The results returned with two genes of interest WNK3 and HIST1H1E.  Camden was just the second person found to have the HIST1H1E gene and the third to have the WNK3 gene.  Both of these genes were of unknown significance at the time.  A year and half later they reran the genetic testing and now there were 8 other individuals with the HIST1H1E gene which was now labeled as a known genetic mutation.  This gene is de novo so neither Camden’s Mom or Dad have this gene.
Camden crawled at 14 months, and walked at 2 years old.  He is currently 4 years old and has several word approximations and a handful of true words.  He continues to participate in speech, occupational and physical therapy weekly.  He continues to make progress in all areas of development at his pace.  Camden has a younger brother that is neuro typical.

Anne is one of the older members of the group recently diagnosed with a mutation of the HistH1E syndrome.  At time of writing, Anne is 19.

Anne was born in 2000, after a rough pregnancy.  Early serum screening was in the abnormal range, but amniocentesis result was normal.  She was born after induction at 38 weeks, when Mum’s blood pressure became too high (preeclampsia).  Anne was quite a bit smaller as a newborn than her older sister and fed poorly. She always seemed to be hyperventilating a bit, almost panting, which is how she came to be diagnosed with an atrial septal defect at about 6 months of age, which closed on its own over a year. Anne had colic for about 9 months and could cry for hours.  Mum and Dad learned to read books, sleep, or drive for hours while Anne screamed.  Eventually the nightmare colic settled, and with the eventual addition of solid foods, Anne began to grow, and grow, and grow.  Between 1 and 3 she soared from puny to 95th centile.  

Anne was late to become mobile and all of the milestones were delayed.  She was referred from the family doctor’s locum to a pediatrician, who referred her on to the Hospital for Sick Children for neurology assessment.  Locally, until she became school aged, Anne had good in hospital physical, speech and occupational therapy.  Unfortunately, there were very few services available in our small town once Anne reached school age.  Mum and Dad had to pretty much “wing it”, trying new approaches and introducing skills over and over again.  Just when we’re ready to give up on a task forever, Anne will get it.  Still waiting for buttons!

Anne’s neurologist recommended that Anne have an MRI and genetics assessment.  We were seen by genetics fairly quickly and really impressed by the HSC team.  Anne was worked up for various overgrowth syndromes, and much of the testing was only available in the US.  It was quite stressful not only drawing blood from a 3 year old, but sending it across the border, knowing that it was a time sensitive shipment and anything could happen.  All of the tests for known syndromes and FISH testing came back negative. After a wait of over a year for MRI, a rather severe Chiari type 1 malformation was found.  Her brainstem was quite compressed.  Her neurosurgeon said it was quite likely that she was having headaches (hence the screaming), and a small syrinx in her spinal cord could grow, so we agreed to a posterior fossa decompression at age 3 1/2.

We were fortunate, given the limited supports in public school, that our town had a great Montessori where her older sister was already in school.  Anne started in toddler Montessori at age 2 and stayed in Montessori until grade 8.  Each student there has an individualized study program, so no one is in special ed.  The school functions as a family, with as few as 45 students sometimes. Anne went from being a tiny CASA there, to a big kid in Grade 8, and has returned there for her high school coop work experience. Today one of the toddlers climbed into her lap for story time.  I think she is starting to grasp the fact that she is a ‘grown up lady’ now.  

Anne has a basically cheerful personality, with occasional burst of attitude.  She loves a good joke, and loves to shake her booty! She enjoys a dance party every morning while getting ready for school.  Anne is thinking she would like to work in a nursery school someday.  After high school, she’ll likely spend some time in REACH, our young adult development program in Owen Sound.  There is even a program at our community college for adults with special needs that she may try in a few years.  She currently participates in swimming, rhythmic gymnastics, bowling, bocce, downhill and nordic skiing through Special Olympics, a few sports in each season.  She will be representing Ontario in Nordic Ski at the Canadian National Winter Games in February 2020.