MEET ALEXI .
Written by Alexi’s Mom
Alexi is now 10 years old.
The first five years of Alexi's life we spent seeking specialists and sub specialists at several multi/disciplinary centers/Children's Hospitals across the U.S. (in addition to two complete work ups at the Mayo Clinic Rochester, MN which proved to be unsuccessful in a genetic diagnosis).
We were told by Mayo that the Alexi most likely had a genetic condition/syndrome. She had several small & rare anomalies of birth in addition to a imperforate anus that was surgically repaired at two days old.
We were told that most likely the cause of her autistic tendencies was a genetic syndrome and that she seemed to have qualities of over 300 syndromes... and the fact she was tested (and retested) for Rhett Syndrome and also considered for Angelmann & Willi Prader ...ultimately they urged us to do a skin DNA to avoid more unnecessary specific syndrome testing as we had done in our home city of Chicago. After weeks of waiting the skin DNA did not conclude the etiology of her symptoms.
We were told to "hope for the best and expect the worst at the same time" ...we were also told that more advanced, sophisticated genetic testing was on the horizon ...which would provide hope for pediatric patients like Alexi who deemed to be in less than 1% of the US population not being diagnosed.
We were told some future testing was "coming" and were urged to also seek metabolic genetic testing in the future or return every 2-4 years for more DNA testing as the panels would improve each year based on government funding. We also heard words like "this could be even more rare caused by a genetic mosaicism or it's possible it could be Neuro genetic cause"..our hope back then lies in Alexi making progress yet feeling let down when she would gain verbal sounds and then lose them. And of course the excruciating pain of wondering if our child would be wheelchair bound after her younger brother began to run at age 12 months and Alexi continued to lag severely behind.
We prayed it would not be a degenerative disorder even if it was still an unknown syndrome.
The new testing that was referenced almost eight years ago is now what we came to know as WES.; this test, almost nine years later would finally be successful diagnosing our child as well a less than 50 other children in the US to date.
We had almost lost hope for a primary diagnosis. Alexi could not crawl, walk, or even bare weight to stand on her legs at age two and half years. She was in a multitude of private therapies both in home, collaborative clinic, early intervention, developmental playgroups and private clinic/water therapy. She had OT, PT, Speech , Hippo therapy and aquatic therapy, developmental therapy and at one point she was up to ten therapies a week...
We began to have some private therapists actually meet at our other children's extra circular activity locations (dance centers and outside therapy) to treat her so that we would accomplish giving her the best chance at healing & still allowing our her siblings to still have a normal childhood. It was no easy feat, at the time, raising two healthy children (one infant and one five year old) and one two year old with multiple disabilities. Alexi is the middle child of three beautiful children we have.
Alexi had severe muscle tightness that seemed to mimic a symptom of what seemed to appear as a Neuro-muscular disorder. She was treated with over 300 hours combined physical therapy and aquatic therapy ages 1-5 and needed the assistance of many support devices...some sold commercially (AFO braces and shoe lifts as well as a pediatric walker that was denied by our insurance at the time based on her medical record and Dr. Office noted submitted that it was likely Alexi would never attain mobility/walking).
We continued to "believe" and "hope" despite watching other children (and their families) receive the support, we too very much needed mainly due to them having diagnosis that could be named. Time showed us that often without a medical billing code for Dr.'s to use ...the term "global delay" did NOT guarantee insurance coverage nor did it describe the medical complexity of our child...so we began to pay out of pocket and one summer alone we accumulated over $2,000 in therapies bills so we could "add frequency" to her weekly therapies. The saddest of Alexi's journey was that she was not always getting referred to specialized therapies that could ultimately help her.
We applied for "Make a Wish" and a foundation which supplied therapy dogs for disabled children and again ...with an unknown diagnosis Alexi was denied.
We persisted. We used the treadmill program in Physical therapy to strengthen Alexi, build new pathways and signals to help her motor planning and focus on the repetition of steps. Metronome was a program we used that proved to be successful.
We had a set of fabric braces with Velcro that had metal bars that went up above the knee that did not allow her to bend so she was forced to bare weight and my husband custom built a "standing device" made of wood and pvc pipe to aid in her "timed" standing to ensure she would not incur atrophy in her lower limbs/legs. This was eight years ago before we were advised of gait trainers and other newly engineered products that help children like Alexi. She used a surf board therapy machine that helped her core and balance and lots of mirrors & we began to see her make a connection!
Alexi took her first independent steps at age 3.5 years old it was not due to "delay" but rather a severe motor planning issue that we now know was caused by the ADNP gene mutation ...a major brain development gene.
Every day after that day for the next year were more challenges in her "functional" walking. She often could not stand a more than a few seconds and it made even the smallest outings...waiting in line at a grocery store very difficult. We refused to listen to clinicians that told us to put her in a specialized stroller during this miraculous development...of course there was a time for that later when she did not have the endurance to functionally walk long distances like at an airport or a zoo but we are happy to report at age 10 then Alexi has been able to finally motor a lunge and run pattern...she however still struggles with reciprocating down stairs as most of us take for granted as a normal motor pattern that our brain signal.
There were many tears and hard work in Alexi's journey and the fear of her condition never being detected ...we continued to travel to best specialists searching for the etiology causing the dozen of secondary conditions.
We were blessed to be lead to a doctor that decided to spend his retirement opening a diagnostic center at the small local Children's Hospital (ETCH) where he began to serve purpose helping children like Alexi ...upon his over 30 years of service as a local pediatrician...it was he who spent the necessary hours digging through her tremendous medical file and sent her on to WES.
We are so blessed that now we have been able to connect with other families in the US and abroad that we continue to learn from and move forward.
Alexi's biggest gift that came from her diagnosis was connecting with another US family who has a little girl who not only suffers of ADNP but the exact same mutation (severity range) and we have learned that the Prompt method (and evidence based model of speech therapy that focuses on oral motor "planning" was working to help her towards verbal speech)...in just a short few weeks of twice weekly therapy we have seen our daughter attempt sounds she has not before.
We will continue to work with the other families to promote advocacy for ADNP in the rare genetic communities and beyond and setting protocols for the younger children that become diagnosed as we hope for future treatments.
We are blessed to have an amazing Neuro Scientist who is the "leader" in ADNP who pioneered work 15 years ago in discovering the gene and its relation to other diseases and now that is committed to help our ADNP children.
Written by Alexi’s Mom
Alexi is now 10 years old.
The first five years of Alexi's life we spent seeking specialists and sub specialists at several multi/disciplinary centers/Children's Hospitals across the U.S. (in addition to two complete work ups at the Mayo Clinic Rochester, MN which proved to be unsuccessful in a genetic diagnosis).
We were told by Mayo that the Alexi most likely had a genetic condition/syndrome. She had several small & rare anomalies of birth in addition to a imperforate anus that was surgically repaired at two days old.
We were told that most likely the cause of her autistic tendencies was a genetic syndrome and that she seemed to have qualities of over 300 syndromes... and the fact she was tested (and retested) for Rhett Syndrome and also considered for Angelmann & Willi Prader ...ultimately they urged us to do a skin DNA to avoid more unnecessary specific syndrome testing as we had done in our home city of Chicago. After weeks of waiting the skin DNA did not conclude the etiology of her symptoms.
We were told to "hope for the best and expect the worst at the same time" ...we were also told that more advanced, sophisticated genetic testing was on the horizon ...which would provide hope for pediatric patients like Alexi who deemed to be in less than 1% of the US population not being diagnosed.
We were told some future testing was "coming" and were urged to also seek metabolic genetic testing in the future or return every 2-4 years for more DNA testing as the panels would improve each year based on government funding. We also heard words like "this could be even more rare caused by a genetic mosaicism or it's possible it could be Neuro genetic cause"..our hope back then lies in Alexi making progress yet feeling let down when she would gain verbal sounds and then lose them. And of course the excruciating pain of wondering if our child would be wheelchair bound after her younger brother began to run at age 12 months and Alexi continued to lag severely behind.
We prayed it would not be a degenerative disorder even if it was still an unknown syndrome.
The new testing that was referenced almost eight years ago is now what we came to know as WES.; this test, almost nine years later would finally be successful diagnosing our child as well a less than 50 other children in the US to date.
We had almost lost hope for a primary diagnosis. Alexi could not crawl, walk, or even bare weight to stand on her legs at age two and half years. She was in a multitude of private therapies both in home, collaborative clinic, early intervention, developmental playgroups and private clinic/water therapy. She had OT, PT, Speech , Hippo therapy and aquatic therapy, developmental therapy and at one point she was up to ten therapies a week...
We began to have some private therapists actually meet at our other children's extra circular activity locations (dance centers and outside therapy) to treat her so that we would accomplish giving her the best chance at healing & still allowing our her siblings to still have a normal childhood. It was no easy feat, at the time, raising two healthy children (one infant and one five year old) and one two year old with multiple disabilities. Alexi is the middle child of three beautiful children we have.
Alexi had severe muscle tightness that seemed to mimic a symptom of what seemed to appear as a Neuro-muscular disorder. She was treated with over 300 hours combined physical therapy and aquatic therapy ages 1-5 and needed the assistance of many support devices...some sold commercially (AFO braces and shoe lifts as well as a pediatric walker that was denied by our insurance at the time based on her medical record and Dr. Office noted submitted that it was likely Alexi would never attain mobility/walking).
We continued to "believe" and "hope" despite watching other children (and their families) receive the support, we too very much needed mainly due to them having diagnosis that could be named. Time showed us that often without a medical billing code for Dr.'s to use ...the term "global delay" did NOT guarantee insurance coverage nor did it describe the medical complexity of our child...so we began to pay out of pocket and one summer alone we accumulated over $2,000 in therapies bills so we could "add frequency" to her weekly therapies. The saddest of Alexi's journey was that she was not always getting referred to specialized therapies that could ultimately help her.
We applied for "Make a Wish" and a foundation which supplied therapy dogs for disabled children and again ...with an unknown diagnosis Alexi was denied.
We persisted. We used the treadmill program in Physical therapy to strengthen Alexi, build new pathways and signals to help her motor planning and focus on the repetition of steps. Metronome was a program we used that proved to be successful.
We had a set of fabric braces with Velcro that had metal bars that went up above the knee that did not allow her to bend so she was forced to bare weight and my husband custom built a "standing device" made of wood and pvc pipe to aid in her "timed" standing to ensure she would not incur atrophy in her lower limbs/legs. This was eight years ago before we were advised of gait trainers and other newly engineered products that help children like Alexi. She used a surf board therapy machine that helped her core and balance and lots of mirrors & we began to see her make a connection!
Alexi took her first independent steps at age 3.5 years old it was not due to "delay" but rather a severe motor planning issue that we now know was caused by the ADNP gene mutation ...a major brain development gene.
Every day after that day for the next year were more challenges in her "functional" walking. She often could not stand a more than a few seconds and it made even the smallest outings...waiting in line at a grocery store very difficult. We refused to listen to clinicians that told us to put her in a specialized stroller during this miraculous development...of course there was a time for that later when she did not have the endurance to functionally walk long distances like at an airport or a zoo but we are happy to report at age 10 then Alexi has been able to finally motor a lunge and run pattern...she however still struggles with reciprocating down stairs as most of us take for granted as a normal motor pattern that our brain signal.
There were many tears and hard work in Alexi's journey and the fear of her condition never being detected ...we continued to travel to best specialists searching for the etiology causing the dozen of secondary conditions.
We were blessed to be lead to a doctor that decided to spend his retirement opening a diagnostic center at the small local Children's Hospital (ETCH) where he began to serve purpose helping children like Alexi ...upon his over 30 years of service as a local pediatrician...it was he who spent the necessary hours digging through her tremendous medical file and sent her on to WES.
We are so blessed that now we have been able to connect with other families in the US and abroad that we continue to learn from and move forward.
Alexi's biggest gift that came from her diagnosis was connecting with another US family who has a little girl who not only suffers of ADNP but the exact same mutation (severity range) and we have learned that the Prompt method (and evidence based model of speech therapy that focuses on oral motor "planning" was working to help her towards verbal speech)...in just a short few weeks of twice weekly therapy we have seen our daughter attempt sounds she has not before.
We will continue to work with the other families to promote advocacy for ADNP in the rare genetic communities and beyond and setting protocols for the younger children that become diagnosed as we hope for future treatments.
We are blessed to have an amazing Neuro Scientist who is the "leader" in ADNP who pioneered work 15 years ago in discovering the gene and its relation to other diseases and now that is committed to help our ADNP children.