Ben's Path
So I have been stewing this over in my head for months now whether or not to post something about it but I feel like once I do then better discussions can happen along with maybe some answers to questions that I have gotten from several friends and family so here goes nothin' 🤷♀️
This is a story about a kid who likes to call himself Superhero Ben. Now, I'm no writer so please be kind 😋
Adam and I dreamt and planned, went to numerous doctors appts (regular/fertility) for 5+ years after getting married to be blessed with one of God's greatest gifts, my Benjamin Eugene! My pregnancy was a relatively uneventful pregnancy, he was larger for gestational age and his head circumference was off the charts so they decided a c-section was best. We scheduled it, the day came, he was delivered and all was glorious! He was a beautiful, chunky, easy going newborn that slept through the night and we were so unbelievably smitten!
This is a story about a kid who likes to call himself Superhero Ben. Now, I'm no writer so please be kind 😋
Adam and I dreamt and planned, went to numerous doctors appts (regular/fertility) for 5+ years after getting married to be blessed with one of God's greatest gifts, my Benjamin Eugene! My pregnancy was a relatively uneventful pregnancy, he was larger for gestational age and his head circumference was off the charts so they decided a c-section was best. We scheduled it, the day came, he was delivered and all was glorious! He was a beautiful, chunky, easy going newborn that slept through the night and we were so unbelievably smitten!
Get to his 2 week check up and things began to change (still smitten with my little man but change none the less). A vetted pediatrician saw him that day and discovered a heart murmur. I thank God for this man often. He was not supposed to see Ben that day, our Pediatrician was out on maternity leave herself so we got him instead. Had it not been for him we wouldn't have known to even see specialists or anything and who knows what what could have happened without monitoring? I'd hate to even think of scenarios. So we start seeing a Cardiologist for Pulmonary Valve Stenosis and Ben continues growing and being the most pleasant, joyful infant that you would ever encounter. You'll hear me say joyful many times throughout this because that's literally one of the top characteristic traits of this dude. Throughout his infancy he also had about 9 ear infections, continuously on antibiotics and we eventually got tubes placed. We noticed he also had no motivation to move. He sat up right by himself just fine by 6 months but never had a desire to roll over, crawl, scoot or anything. So back to the dr we went and got into physical therapy. He started crawling and pulling himself to stand with assistance around a year and didn't get to walking until 20 months or so. So by this time I also realized he was close to his 2nd bday and we also weren't saying any words. He would babble and jibber jabber all the time but never said any actual defined words. We got in touch with Heartland AEA (who are wonderful people to work with btw) had speech and development assessed and he scored fairly low on the charts for his age in almost all categories assessed. So we started seeing Speech Pathologists weekly and have ever since. Because of speech and developmental delays it was suggested we get him into preschool ASAP so he started in a 2yr old room at Johnston Early Learning Academy. The team there is excellent, from his every day teachers to the special education program to the associates that work with him one on one, all super fantastic. He's come leaps and bounds in the 2 1/2 years he's been there now.
Ok, so fast forward to Spring 2019 we were referred to a Developmental/Genetics Dr. by Ben's pediatrician who also was wanting answers as to why Ben was developing so differently. We were on an agonizing 6 month wait list to get into this man but let me tell ya, once you're in he makes you feel like you are his only patient hes focusing on and well worth the wait. I get now why so many seek him out. He sees Ben, looks over all his history, asks a ton of questions and in the end suggests genetic testing. We say yes, Adam, Myself and Ben are tested and we await results.
Thinking back I am so grateful for my path in all of this, as a mom you just have these intuitions and know when something's just not right and as much as I wanted the testing to come back as "negative for any abnormalities or defects" I just had a hunch that something was going on with this sweet, joyous precious guy. So Ben's 4th birthday comes and goes and we are still waiting. We knew because of the pandemic things were slowed and delayed but at the time to me no news was good news, I mean 2020 was already a dumpster fire to begin with I didn't need anymore "bad news". It wasn't until May when we got the call from the dr himself saying "well we found something". Having a medical background and being a human in general my heart sank and the dr continued to ramble off all this scientific mumbo jumbo (I understood it all but that's what it was in my head at the time) that I had to stop and have him repeat because my mind was racing a million miles an hour and every worst case scenario was going through my head along with 10,000 follow up questions that I didn't have time to write down. Gah! Make it stop! Not my baby!
The dr even explained that he had never heard of this (and he's a genetisist) and that we would be learning about this together and I may become the expert on it and teach him since we would now be living it.
So here's the shortest version of how I can explain Ben's diagnoses to you all.
It's a very complex syndrome and we know very little about it since it was just discovered scientifically/in the genetics world in 2019 with only about 40-50 cases known world wide so far. Obvioisly there are more but those people just haven't been genetically tested for this specifically.
Ben has been diagnosed with a gene mutation (not hereditary or something Adam or I passed on) called CHD4 Neurodevelopmental Disorder (CHD4-NDD) or also called Sifrim Hitz Weiss Syndrome (SIHWES). It is associated (but not limited to) with developmental delays, speech delays and mild to moderate intellectual disabilities. Variability between individuals is significant and very few have intelligence within normal range. Variable congenital defects affecting cardiac, skeletal and urogenital systems, short stature, macrocephaly (enlarged head circumference), hearing impairment and facial dysmorphism are present in patients as well. So far we know Ben has presented with developmental and speech delays, a heart murmur, macrocephaly (enlarged head circumference), hormonal imbalances and low muscle tone associated with the syndrome. He wears inserts (braces) in his shoes daily which help with his arches and stride while walking. Those get evaluated every 6 months as he grows so are subject to change over time and he may not even need them forever but we will see.
He will also continue to follow up with MRIs of his brain, endocrinology for hormones, cardiac for the murmur (which is almost non existant as he's grown, thank you lord!), Neuromuscular drs, as well as check ins with the developmental clinic.
You get all that? Yeah it takes a couple reads and I read the one and only research article on this probably 40x now and still don't have many of the answers. So many unknowns on one hand but so much to discover in the other. I am just grateful that he only has the things that he has. From the sounds of it, others with this syndrome have ranged to far worse complications.
If you've made it this far I want to make clear that by writing this we don't want your sympathy or attention to feel sorry for Ben. That is not my intentions at all! I'm writing this as a mom that wants everything for my child. I want him to have a community of people backing him and loving him for the gentle, smiling soul that he is. I also wanted to write this to educate others that there is nothing that will stop Ben or hold him back even though he's now been (in the medical community) labeled with a disability. So many who know a little bit of Ben's story assume it's something like Autism (which please don't misconstrue that I am looking down at or brushing off Autism, because I am not at all). Sifrim Hitz Weiss may present similarly but it is not, it is simply one of his genetic markers that mutated and created the best kid I could ever ask for. I am so honored and humbled that God chose me to be his mother and on days were Ben or myself are not at our best we have that as our grace.
Am I scared that his future is so unclear? Scared shitless! But was I scared for him and his brother, Beau, when I was pregnant with both of them? Sure was. Syndrome or not, I am his mother, it's my job to take that worry on and give it up to God to decide what path he has for us.
Ok, so fast forward to Spring 2019 we were referred to a Developmental/Genetics Dr. by Ben's pediatrician who also was wanting answers as to why Ben was developing so differently. We were on an agonizing 6 month wait list to get into this man but let me tell ya, once you're in he makes you feel like you are his only patient hes focusing on and well worth the wait. I get now why so many seek him out. He sees Ben, looks over all his history, asks a ton of questions and in the end suggests genetic testing. We say yes, Adam, Myself and Ben are tested and we await results.
Thinking back I am so grateful for my path in all of this, as a mom you just have these intuitions and know when something's just not right and as much as I wanted the testing to come back as "negative for any abnormalities or defects" I just had a hunch that something was going on with this sweet, joyous precious guy. So Ben's 4th birthday comes and goes and we are still waiting. We knew because of the pandemic things were slowed and delayed but at the time to me no news was good news, I mean 2020 was already a dumpster fire to begin with I didn't need anymore "bad news". It wasn't until May when we got the call from the dr himself saying "well we found something". Having a medical background and being a human in general my heart sank and the dr continued to ramble off all this scientific mumbo jumbo (I understood it all but that's what it was in my head at the time) that I had to stop and have him repeat because my mind was racing a million miles an hour and every worst case scenario was going through my head along with 10,000 follow up questions that I didn't have time to write down. Gah! Make it stop! Not my baby!
The dr even explained that he had never heard of this (and he's a genetisist) and that we would be learning about this together and I may become the expert on it and teach him since we would now be living it.
So here's the shortest version of how I can explain Ben's diagnoses to you all.
It's a very complex syndrome and we know very little about it since it was just discovered scientifically/in the genetics world in 2019 with only about 40-50 cases known world wide so far. Obvioisly there are more but those people just haven't been genetically tested for this specifically.
Ben has been diagnosed with a gene mutation (not hereditary or something Adam or I passed on) called CHD4 Neurodevelopmental Disorder (CHD4-NDD) or also called Sifrim Hitz Weiss Syndrome (SIHWES). It is associated (but not limited to) with developmental delays, speech delays and mild to moderate intellectual disabilities. Variability between individuals is significant and very few have intelligence within normal range. Variable congenital defects affecting cardiac, skeletal and urogenital systems, short stature, macrocephaly (enlarged head circumference), hearing impairment and facial dysmorphism are present in patients as well. So far we know Ben has presented with developmental and speech delays, a heart murmur, macrocephaly (enlarged head circumference), hormonal imbalances and low muscle tone associated with the syndrome. He wears inserts (braces) in his shoes daily which help with his arches and stride while walking. Those get evaluated every 6 months as he grows so are subject to change over time and he may not even need them forever but we will see.
He will also continue to follow up with MRIs of his brain, endocrinology for hormones, cardiac for the murmur (which is almost non existant as he's grown, thank you lord!), Neuromuscular drs, as well as check ins with the developmental clinic.
You get all that? Yeah it takes a couple reads and I read the one and only research article on this probably 40x now and still don't have many of the answers. So many unknowns on one hand but so much to discover in the other. I am just grateful that he only has the things that he has. From the sounds of it, others with this syndrome have ranged to far worse complications.
If you've made it this far I want to make clear that by writing this we don't want your sympathy or attention to feel sorry for Ben. That is not my intentions at all! I'm writing this as a mom that wants everything for my child. I want him to have a community of people backing him and loving him for the gentle, smiling soul that he is. I also wanted to write this to educate others that there is nothing that will stop Ben or hold him back even though he's now been (in the medical community) labeled with a disability. So many who know a little bit of Ben's story assume it's something like Autism (which please don't misconstrue that I am looking down at or brushing off Autism, because I am not at all). Sifrim Hitz Weiss may present similarly but it is not, it is simply one of his genetic markers that mutated and created the best kid I could ever ask for. I am so honored and humbled that God chose me to be his mother and on days were Ben or myself are not at our best we have that as our grace.
Am I scared that his future is so unclear? Scared shitless! But was I scared for him and his brother, Beau, when I was pregnant with both of them? Sure was. Syndrome or not, I am his mother, it's my job to take that worry on and give it up to God to decide what path he has for us.
I will keep everyone updated as we know more 😊 thank you for reading!
