MEET HANNA
Written by Hanna's Mom
A story of mystery and Hope:
Hanna was born after a very healthy pregnancy and she also was born with not complications, her APGAR numbers were normal and she was so beautiful and small. Then we went home and all seem great however I always thought that Hanna physical appearance was a little off to me; her forehead was too wide and big for her little face and her eyes wide spread more than normal; she also has long and thick eyebrows but we thought it was because her daddy has them a little big as well. We soon started noticing that she was not on top of her milestones and that her legs were very fluffy with low muscle tone. When she was ten months we thought she presented a kind of seizure ( we say we thought because this was never confirmed after all the testing come back normal) with this behavior she stared a empty space for few seconds. The first time this happened we toke Hanna to Hasbro Hospital in RI and she was in observation for few hours then they discharged her with no other suggestion. At this point we continue to monitor Hanna closely but never saw the episode happen again. She started Early Intervention right after, not because she was referred by any doctor but because I thought it was necessary. We changed pediatricians 3 times, all because they thought that there was nothing wrong with Hanna and they didn't think she need it any type of services. Without any referral the Early Intervention office came to our house and evaluated Hanna and they concluded that Hanna need it PT, OT, speech and strength of her oral muscles. Hanna also started showing some kind of tremor that you may see in people that get excited and or when you feel your shivering; her little hands would just shake mostly when someone got close to her, we brought this to a dr attention and because they considered Hanna "seizure" episode they thought it was a good idea to do an MRI this is was the first one and it came back normal. Not issues.
Hanna never crawled and walked late, right after her second birthday she wore braces since she was 13 months; she had braces to go to sleep that would help her with her over extended hips and also she wore braces on her ankles during the day. She was always a very happy kid, always content and for the most part she cried very little. Because she was our first child we thought that was great and all our friends and family telling us how lucky we were !
Hanna had problems eating, she couldn't swallow or bite properly I remember she couldn't eat Cheerios or anything crunchy so all her food had to be blended this was also due to her low muscle tone because it was present on her entire body.
Hanna started preschool with the public schools when she was 2.9 years old. It was here when we started to see how fast she was falling behind her peers. She struggled in school since early years but always was the social part on Hanna that kept her going. She always has been so friendly and sweet with everyone so was not a big issue then. When Hanna started showing the big gap in her learning process at school the evaluations began and we started going to the children's Hospital in Boston at the neurodevelopment clinic. Here Hanna was scheduled to get a psychological evaluation and genetic testing. In genetics they use a Micro-ray analysis where they tested for Fragile X and PCR analysis and the results came back normal. In the other hand the neuropsychological results were very hard for us, because they showed us how delayed she was in cognition and how far behind she was from her peers. So the question for us was what was wrong? What she had ? But their answer was Global developmental delay because they didn't have a real answer or a real diagnosis. When Hanna turned four she started showing more tremors to the point that she couldn't hold a spoon without spilling the food; she also starting losing her balance and falling and it was always happening at night time, so we decided to film her and we brought the video to a neurologist that as soon he saw it he suggested Hanna had something called Dopamine Responsive Dystonia (DRD) he started Hanna with a medication cinemet that will give her the dopamine her brain was not releasing; we were told that this may not work because it work in very few cases, so after 3 days she responded very well and started walking normally again even jumping on the trampoline so they got a blood sample and tested her for Dystonia and the test came out positive for a mutation on the GCH1 gene (c 541+1G>T) so with this news we were very excited and we thought we found the recipe to help Hanna but how little did we knew that this was just a symptom of something else going on. We then started following Dystonia groups and researching about this but nothing will lead us to cognitive delay or intellectual disability so we did hit another wall but at least her tremors and walking issues were some how resolved for now.
We keep asking for answers and with a fairly healthy girl we didn't stop searching why she couldn't learn like other kids. She was talking more but she will answer you with the same question or repeating single words. In 2011 Hanna had a second MRI and also was normal. This year she also had another neuropsychological evaluation ( BASC, Stanford -Binet, Vineland II, K-SEALS) and this second time Autism was not diagnosed once again but the cognitive functioning was very low, so they kept the diagnosis of : cognitive Disorder and developmental Disorder not specify.
Another year with no real answers and lot of frustration. Form this year to now we were more focused with the Dystonia part of Hanna and to find any connection with her cognitive disability, we even went to mass general Hospital to a Dystonia clinic that was the only one in the State but 2 years there went to nothing because they didn't have any answers so they suggested to us to go back to children's Hospital and continue with her professional care here once again.
After this disappointment we went back to children's hospital this year 2016 we had and appointment to follow up with the orthopedist so he recommended to us another neurologist and the neurologist recommended to do another genetic testing so we visit a new geneticist that suggested a Whole Exome Sequence Analysis and we were again excited and confused because now there is been 9 years looking for answers and we may see a light soon. The results came in 3 months after our testing and the results were shocking because they found that Hanna had a very rare syndrome that was caused by the mutation at the ADNP gene this syndrome is call Helmooster-Van der Aa (HVDAS) and she was going to be the first kid in the state of Massachusetts to have it. The geneticist was very nervous and really didn't have enough information about it so we planned another visit to talk about it. Meanwhile he suggested to us to reach out to other specialists ( cardiology , ophthalmology , endocrinology ) to rule out any involvement in any of this systems because many of the kids diagnosed with this syndrome present other very debilitating conditions.
So far Hanna is been clear of any heart condition and we will continue to monitor her progress
She goes to the public school in our small town where she is followed by an IEP; she is most of her day in a special needs class of about 5 other kids in different grades and also assist to the extra classes with the regular population (computers, music, art and physic Ed ) she keep going with her age peers as we decided with the school IEP evaluators. She swims, takes karate and is on a challenger cheers team, she is very active but also gets tired very fast so we practice this activities keeping an eye on her lack of endurance.
We love our Hanna and want the best for her and for the other kids that share with Hanna this rare syndrome. We will work closely with the other families and specialists to share our story and to create awareness of the difficulty of getting a diagnosis and the possibility of the creation of a ADNP clinic to help our kids and some day to find a cure.
Written by Hanna's Mom
A story of mystery and Hope:
Hanna was born after a very healthy pregnancy and she also was born with not complications, her APGAR numbers were normal and she was so beautiful and small. Then we went home and all seem great however I always thought that Hanna physical appearance was a little off to me; her forehead was too wide and big for her little face and her eyes wide spread more than normal; she also has long and thick eyebrows but we thought it was because her daddy has them a little big as well. We soon started noticing that she was not on top of her milestones and that her legs were very fluffy with low muscle tone. When she was ten months we thought she presented a kind of seizure ( we say we thought because this was never confirmed after all the testing come back normal) with this behavior she stared a empty space for few seconds. The first time this happened we toke Hanna to Hasbro Hospital in RI and she was in observation for few hours then they discharged her with no other suggestion. At this point we continue to monitor Hanna closely but never saw the episode happen again. She started Early Intervention right after, not because she was referred by any doctor but because I thought it was necessary. We changed pediatricians 3 times, all because they thought that there was nothing wrong with Hanna and they didn't think she need it any type of services. Without any referral the Early Intervention office came to our house and evaluated Hanna and they concluded that Hanna need it PT, OT, speech and strength of her oral muscles. Hanna also started showing some kind of tremor that you may see in people that get excited and or when you feel your shivering; her little hands would just shake mostly when someone got close to her, we brought this to a dr attention and because they considered Hanna "seizure" episode they thought it was a good idea to do an MRI this is was the first one and it came back normal. Not issues.
Hanna never crawled and walked late, right after her second birthday she wore braces since she was 13 months; she had braces to go to sleep that would help her with her over extended hips and also she wore braces on her ankles during the day. She was always a very happy kid, always content and for the most part she cried very little. Because she was our first child we thought that was great and all our friends and family telling us how lucky we were !
Hanna had problems eating, she couldn't swallow or bite properly I remember she couldn't eat Cheerios or anything crunchy so all her food had to be blended this was also due to her low muscle tone because it was present on her entire body.
Hanna started preschool with the public schools when she was 2.9 years old. It was here when we started to see how fast she was falling behind her peers. She struggled in school since early years but always was the social part on Hanna that kept her going. She always has been so friendly and sweet with everyone so was not a big issue then. When Hanna started showing the big gap in her learning process at school the evaluations began and we started going to the children's Hospital in Boston at the neurodevelopment clinic. Here Hanna was scheduled to get a psychological evaluation and genetic testing. In genetics they use a Micro-ray analysis where they tested for Fragile X and PCR analysis and the results came back normal. In the other hand the neuropsychological results were very hard for us, because they showed us how delayed she was in cognition and how far behind she was from her peers. So the question for us was what was wrong? What she had ? But their answer was Global developmental delay because they didn't have a real answer or a real diagnosis. When Hanna turned four she started showing more tremors to the point that she couldn't hold a spoon without spilling the food; she also starting losing her balance and falling and it was always happening at night time, so we decided to film her and we brought the video to a neurologist that as soon he saw it he suggested Hanna had something called Dopamine Responsive Dystonia (DRD) he started Hanna with a medication cinemet that will give her the dopamine her brain was not releasing; we were told that this may not work because it work in very few cases, so after 3 days she responded very well and started walking normally again even jumping on the trampoline so they got a blood sample and tested her for Dystonia and the test came out positive for a mutation on the GCH1 gene (c 541+1G>T) so with this news we were very excited and we thought we found the recipe to help Hanna but how little did we knew that this was just a symptom of something else going on. We then started following Dystonia groups and researching about this but nothing will lead us to cognitive delay or intellectual disability so we did hit another wall but at least her tremors and walking issues were some how resolved for now.
We keep asking for answers and with a fairly healthy girl we didn't stop searching why she couldn't learn like other kids. She was talking more but she will answer you with the same question or repeating single words. In 2011 Hanna had a second MRI and also was normal. This year she also had another neuropsychological evaluation ( BASC, Stanford -Binet, Vineland II, K-SEALS) and this second time Autism was not diagnosed once again but the cognitive functioning was very low, so they kept the diagnosis of : cognitive Disorder and developmental Disorder not specify.
Another year with no real answers and lot of frustration. Form this year to now we were more focused with the Dystonia part of Hanna and to find any connection with her cognitive disability, we even went to mass general Hospital to a Dystonia clinic that was the only one in the State but 2 years there went to nothing because they didn't have any answers so they suggested to us to go back to children's Hospital and continue with her professional care here once again.
After this disappointment we went back to children's hospital this year 2016 we had and appointment to follow up with the orthopedist so he recommended to us another neurologist and the neurologist recommended to do another genetic testing so we visit a new geneticist that suggested a Whole Exome Sequence Analysis and we were again excited and confused because now there is been 9 years looking for answers and we may see a light soon. The results came in 3 months after our testing and the results were shocking because they found that Hanna had a very rare syndrome that was caused by the mutation at the ADNP gene this syndrome is call Helmooster-Van der Aa (HVDAS) and she was going to be the first kid in the state of Massachusetts to have it. The geneticist was very nervous and really didn't have enough information about it so we planned another visit to talk about it. Meanwhile he suggested to us to reach out to other specialists ( cardiology , ophthalmology , endocrinology ) to rule out any involvement in any of this systems because many of the kids diagnosed with this syndrome present other very debilitating conditions.
So far Hanna is been clear of any heart condition and we will continue to monitor her progress
She goes to the public school in our small town where she is followed by an IEP; she is most of her day in a special needs class of about 5 other kids in different grades and also assist to the extra classes with the regular population (computers, music, art and physic Ed ) she keep going with her age peers as we decided with the school IEP evaluators. She swims, takes karate and is on a challenger cheers team, she is very active but also gets tired very fast so we practice this activities keeping an eye on her lack of endurance.
We love our Hanna and want the best for her and for the other kids that share with Hanna this rare syndrome. We will work closely with the other families and specialists to share our story and to create awareness of the difficulty of getting a diagnosis and the possibility of the creation of a ADNP clinic to help our kids and some day to find a cure.
