My son

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My now 10 year old son( 2017) has had a plethora of problems including: Intellectual disabilities, gastrointestinal issues (constipation, lack of appetite, bloating), Chiari I malformation, hypotonia, extra hair on his lower back and elbows, hypospadias (now corrected), sleep apnea, ADHD, extreme anxiety including going to the doctors and hospitals, behavorial problems, small in height and weight, occasional knee pain, sensory processing, unable to toilet train and others.

It was a long journey as a mom to figure out all these conditions. This was all prior to his Wiedeman-Steiner diagnosis. It started with him being diagnosed with "failure to thrive in height and weight". I was tired of his primary doctor stating "Your son needs to eat more calories", "You should try feeding him butter, ice cream, pediasure, etc." Meanwhile my son could only eat so much.

"You need to see a gastrointestinal doctor, to see if they can help your son", said his primary doctor. OK, 3 months after 3 months of check ups, we still couldn't get it down as to why he was always constipated. It was late at night "Mommy my tummy is hurting me", (crying, running around because of the pain). Off to the hospital! Surely enough he was really compacted with poop. Two days later, out of the hospital with a plan. Few months later back in hospital for same reason, then was recommended to see another gastro. doc. An Anorectal manometry was recommended (A what???). Well this is a technique used to measure contractility in the anus and rectum. This technique uses a balloon in the rectum to distend the rectum and a pressure sensor at the internal anal sphincter to measure the presence or absence of the rectosphincteric reflex. AHHH with a son who has extreme anxiety he has to go to do this, this isn't good. He was then diagnosed with a large rectum d/t all his constipation issues. New Medication plan (fun) that is to last for 2 years.

Next was him falling easily, bumping into furniture and walls easily and being diagnosed with hypotonia. Ninety nine percent of the times he fell he got a hematoma (this is a bump that surfaces once he hit his head). I swear he could of had a possible head injury from all of the falls. My decision was to bring him to a neurologist, a MRI was done on his head. Good news no brain injury ALTHOUGH bad news "your son has Chiari I malformation". AHHH what is this?? Off to the neurosurgeon to discuss possible surgery. A month later we were in the hospital for surgery.

Ok next, due to his many falls, easily bumping into furniture and hypotonia it was recommended that he goes and gets Physical therapy and Occupational therapy. Well....here we go again. We walked out of his evaluation with a new diagnosis "Sensory Processing" AHHH what is Sensory Processing. One year of PT and OT, fun, fun.

Next, my son was complaining of knee pain, constantly. Ok, let's go to your primary doctor. "Here is a prescription for an x-ray to get this checked out.... Well, Mrs. Pepin, your son's x-ray did not show anything wrong (Come on, really)".

My son was recommended to get his tonsils and adenoids out to see if this could help him swallow his food better (possibly this could be one of the reasons he doesn't eat much). "OK, let's do this". Well Mrs. Pepin it looks like your insurance won't pay for this unless your son goes through a sleep study (you got to be kidding me, another procedure). Sleep study done, adenoids and tonsils taken out, another sleep study done afterwards. Sleep study results moderate. "Here Mrs. Pepin, give your child iron for 3 months and then go for blood test".

There has to be help with some financial assistance from our County services. Call after call, couldn't get any information as to what my son could qualify for. Well Thank God, I was happily employed in the county, went to one of the mandatory trainings where I found out how to get started with any type of services (you have to be kidding me, this was the only way one can find out about services, this stupid county system). We were soooo very thankful for "Wraparound" services. Long story short he now has paid services including Medicaid, respite care and behavioral therapy. YEAH.

Six years of genetic testing later, we got our diagnosis of WSS. So much more happened but I will spare you the details.