This page is dedicated to the memory of
Nathan Stedman Harris
August 7, 1998 - February 16, 2014
To Nathan's Mom, Tracey - Your dedication to make a difference in the lives of families whose boys are affected by UBE2A is an inspiration. You have enabled families from around the globe to make connections we never would have otherwise been able to make. I have no doubts that your brightest star in the sky is Nathan shining down on you - reminding you that he most definitely is and will always be proud of his momma. The fact that you give back to families like ours, speaks volumes to the kind of person you are. Just as Nathan is an inspiration to you - you are an inspiration to us. Thank you for sharing your Nathan with us. Much Love.
Nathan's Story
Nathan was born August 7, 1998 weighing 5lbs 9oz. The joy I felt was second to none and my mind was racing forward to how he would look, how I'd dress him or how I'd cut his hair. Then, at just two weeks old he returned to the hospital because his umbilical cord hadn't fallen off, so he was referred to another hospital for an operation. What was supposed to have been a three-day-stay turned in to a three month stay. One thing after another happened including finding out he had a heart condition to learning that he had an unknown genetic disorder. (This was 1998, no one had discovered the gene that caused this, yet!)
This was a lot for my 17 year old self to take in. At 13 months old, Nathan had his open heart surgery for vsd ASD repair. I really thought things were going to get better after this and Nathan would become a normal 13 month old... so naive I know.
So for the next few years Nathan thrived. He gained strength but soon we discovered that he had an immunodeficiency disorder, in which he needed immunoglobulin infusions every 3 weeks I'm hospital.
After a decade of not having an official diagnosis (and while I was pregnant with my 3rd child) Nathan was was diagnosed with what the doctors called "micro deletion of xq24". I was also told after a blood test I am a carrier. I was told, to my relief, that Nathan would live a full and healthy life well in to his adult years. We were warned that the only thing that might take him from us was a massive seizure (which he developed at 6years of age).
On the February 14, 2014 - my husband and I went out to celebrate Valentines Day. When we came home our babysitter said Nathan was coughing a bit. We thought OK no biggie and the next day he started to vomit and have diarrhea. We were so used to this because with his immunodeficiency disorder, the infusions would protect him from everything except the vomiting bug. As long as Nathan stayed hydrated, we knew he would be OK and Nathan was drinking water and staying hydrated.
By 11pm that night Nathan was very unwell. My husband and I changed him from head to toe and put him to bed. At 6am the following morning my husband alerted me Nathan was struggling to breathe. An ambulance arrived and at 9.25am and on February 16, 2014 - our beautiful boy died in our arms.
A few days later we discovered Nathan had died from swine flu. Nathan was just 15 years old.
For 15 years all I ever wanted was to find someone who had a child with the same condition. Six months after he passed away, I was contacted by a mum whose son was diagnosed with the same condition - now named as UBE2A Deficiency Syndrome. Today, we continue to learn of and meet new families from around the world.
This was a lot for my 17 year old self to take in. At 13 months old, Nathan had his open heart surgery for vsd ASD repair. I really thought things were going to get better after this and Nathan would become a normal 13 month old... so naive I know.
So for the next few years Nathan thrived. He gained strength but soon we discovered that he had an immunodeficiency disorder, in which he needed immunoglobulin infusions every 3 weeks I'm hospital.
After a decade of not having an official diagnosis (and while I was pregnant with my 3rd child) Nathan was was diagnosed with what the doctors called "micro deletion of xq24". I was also told after a blood test I am a carrier. I was told, to my relief, that Nathan would live a full and healthy life well in to his adult years. We were warned that the only thing that might take him from us was a massive seizure (which he developed at 6years of age).
On the February 14, 2014 - my husband and I went out to celebrate Valentines Day. When we came home our babysitter said Nathan was coughing a bit. We thought OK no biggie and the next day he started to vomit and have diarrhea. We were so used to this because with his immunodeficiency disorder, the infusions would protect him from everything except the vomiting bug. As long as Nathan stayed hydrated, we knew he would be OK and Nathan was drinking water and staying hydrated.
By 11pm that night Nathan was very unwell. My husband and I changed him from head to toe and put him to bed. At 6am the following morning my husband alerted me Nathan was struggling to breathe. An ambulance arrived and at 9.25am and on February 16, 2014 - our beautiful boy died in our arms.
A few days later we discovered Nathan had died from swine flu. Nathan was just 15 years old.
For 15 years all I ever wanted was to find someone who had a child with the same condition. Six months after he passed away, I was contacted by a mum whose son was diagnosed with the same condition - now named as UBE2A Deficiency Syndrome. Today, we continue to learn of and meet new families from around the world.
Nathan Stedman Harris • Forever loved • Forever missed
You are my inspiration • You taught me life is beautiful!
You are my inspiration • You taught me life is beautiful!
Meet the UBE2A "Brothers"
Since we started our journey with UBE2A in December 2015, we have officially found and have been able to connect with eleven other families and twelve boys who have UBE2A Deficiency Syndrome. We lovingly refer to the boys we have found as Abram's "UBE2A Brothers" since all of the boys share similar facial features and additional diagnoses due to the way this Syndrome presents.
We are going to share our boys' stories here in hopes that we find others and to help lead the way, give other parents hope and to show the world that regardless of having a rare condition - these children are the sweetest and happiest kids who have so much to give and even more to teach us about the world.
We are going to share our boys' stories here in hopes that we find others and to help lead the way, give other parents hope and to show the world that regardless of having a rare condition - these children are the sweetest and happiest kids who have so much to give and even more to teach us about the world.
Abram's Story
I have created a separate page for the exact list of symptoms that arose for our son, Abram. I share it only in hopes of it possibly helping another family who is newly diagnosed with this Syndrome as well to navigate what to expect. As of now, we are aware of and in contact with TWENTY EIGHT other families whose boys have UBE2A Deficiency Syndrome world wide. So, I am using this page to educate and inform not only our friends, family and legislators but to hopefully connect with others on this journey, as well.
Our biggest hurdle in dealing with this as an infant was our son's inability to sit up, crawl and walk but that did come with time. He walked independently at 2 1/2 and now at 4 is just starting to jump and run - although he still has an "abnormal gait" and will require physical therapy to gain more stability because he still requires 100% assistance on stairs, playgrounds and uneven ground.
Seizures started early but weren't noticeable to an unkeen eye as such. It took three EEGs to catch our son's seizures and once they were confirmed - they seemed to intensify quickly. After trying AEDs (anti-epileptic drugs) and seeing our son suffer terrible consequences and side effects from them, our Neurologist urged us to try Cannabidiol (an oil made from the cannabis plant, aka "medical marijuana"). After the first two weeks, his seizures were gone and since June of 2015 we have weaned his Klonopin (a benzodiazepine) down by 75% and hope to have him Pharmaceutical FREE and just on cannabis oil by 2017. We are supported in our use of cannabis oil for our son by both the University of Iowa Hospital as well as Mayo Clinic and we are in Medical Research Programs with both Hospitals as well as the University of Chicago.
Our son has been free of physical seizures for over a year and although his EEG shows abnormal brain activity (due to bi-lateral grey matter heterotopia), those spikes are no longer turning into generalized seizures. (Generalized seizures start in all parts of the brain and have no identifiable onset, so surgery is NOT a treatment option.) I hope that anyone who has a child with UBE2A who is suffering from seizures and cannot gain control that they try Cannabis Oil to relieve their loved one's suffering! It has changed our lives immensely.
A positive side effect of the cannabis oil includes: increased cognitive ability (going from a 7 month old infant to an 18-24 month level), his fine and gross motor skills are beginning to resemble that of a toddler and we haven't spent a day in the hospital nor have we had an ambulance ride, ER visit or unscheduled doctor's appointments due to seizures. It's been an amazing change!
We still require a large amount of therapies and doctor's appointments to keep up with the other parts of the rare condition, but not having anything emergent and spending days in the hospital due to seizures has been a relief. Although this condition is rare, we are dealing with it well and just try to focus on what we can work on to the best of our son's ability. His milestones still arrive - it just takes him a lot longer and includes a lot more work but we celebrate every single milestone as a huge victory! UBE2A can be daunting and scary but our son is the most loving, sweet, kind little boy in the entire world. He loves everything and everyone with his whole heart and his smile can light up a room.
If you have a child recently diagnosed - please join our Parent Connection on Facebook.
Our biggest hurdle in dealing with this as an infant was our son's inability to sit up, crawl and walk but that did come with time. He walked independently at 2 1/2 and now at 4 is just starting to jump and run - although he still has an "abnormal gait" and will require physical therapy to gain more stability because he still requires 100% assistance on stairs, playgrounds and uneven ground.
Seizures started early but weren't noticeable to an unkeen eye as such. It took three EEGs to catch our son's seizures and once they were confirmed - they seemed to intensify quickly. After trying AEDs (anti-epileptic drugs) and seeing our son suffer terrible consequences and side effects from them, our Neurologist urged us to try Cannabidiol (an oil made from the cannabis plant, aka "medical marijuana"). After the first two weeks, his seizures were gone and since June of 2015 we have weaned his Klonopin (a benzodiazepine) down by 75% and hope to have him Pharmaceutical FREE and just on cannabis oil by 2017. We are supported in our use of cannabis oil for our son by both the University of Iowa Hospital as well as Mayo Clinic and we are in Medical Research Programs with both Hospitals as well as the University of Chicago.
Our son has been free of physical seizures for over a year and although his EEG shows abnormal brain activity (due to bi-lateral grey matter heterotopia), those spikes are no longer turning into generalized seizures. (Generalized seizures start in all parts of the brain and have no identifiable onset, so surgery is NOT a treatment option.) I hope that anyone who has a child with UBE2A who is suffering from seizures and cannot gain control that they try Cannabis Oil to relieve their loved one's suffering! It has changed our lives immensely.
A positive side effect of the cannabis oil includes: increased cognitive ability (going from a 7 month old infant to an 18-24 month level), his fine and gross motor skills are beginning to resemble that of a toddler and we haven't spent a day in the hospital nor have we had an ambulance ride, ER visit or unscheduled doctor's appointments due to seizures. It's been an amazing change!
We still require a large amount of therapies and doctor's appointments to keep up with the other parts of the rare condition, but not having anything emergent and spending days in the hospital due to seizures has been a relief. Although this condition is rare, we are dealing with it well and just try to focus on what we can work on to the best of our son's ability. His milestones still arrive - it just takes him a lot longer and includes a lot more work but we celebrate every single milestone as a huge victory! UBE2A can be daunting and scary but our son is the most loving, sweet, kind little boy in the entire world. He loves everything and everyone with his whole heart and his smile can light up a room.
If you have a child recently diagnosed - please join our Parent Connection on Facebook.
Jack's Story
It wasn't until recently that Jack finally got the diagnosis of UBE2A Deficiency Syndrome. He was born at 32 weeks gestation weighing 4lb 10oz and was was kept in the hospital for the first 12 weeks of his life between 2 different hospitals. When he was finally able to be released, he came home on oxygen and an NG tube. Jack is now being weaned off his oxygen with the hope of being off it all together, soon. He now has a mic-key button in his tummy for his feed rather than the NG tube. He has 1 older brother and 1 younger sister. Like Abram, he has to work hard to achieve anything in life that would be "normal" to other children his age. He is currently working on trying to sit and he can now sign mum in makatone. He is such a wonderful boy full of life (when he well that is)! I know his journey will be a rocky road with ups and downs along the way but he has taught me to appreciate the little things in life and to not take anything for granted. As his mum, I am so grateful to be able to chat with other mums and see the progress that the other UBE2A boys are making. Without these other wonderful mums I would still be in the dark about what could be for Jack in the future. I now have hope that he will eventually sit up by him self without falling over and hopefully walk and be able to communicate. The UBE2A brothers are a true blessings here to teach the world.