Angelman Syndrome, Life as an Angel: ANGELMAN SYNDROME

Friday, January 21, 2005

ANGELMAN SYNDROME

Our Story:
May 21,2002 our son Brady was born. It was the second greatest day of our lives,the first being when my oldest son Peyton was born. Brady had a normal beginning in life, the future was bright and full of ideas. We new right away that he was a perfect Angel, little did we know just how right we were.

The first little while was great,a little reflux,but otherwise normal. Between 2 and 3mths something happened, he stopped eating, became very fussy, something just wasn't right. He would hold the bottle in his mouth and would start to suck,but gave up very easily. It would take about 3 hrs to get a couple of ounces in him,we literally spent all day just feeding. The doctor nor us, knew what was wrong or what to do. Finally after rapid weight loss and soon to go into the hospital to get a feeding tube,and being diagnosed with "failure to thrive", I had enough and was desperate. I took a steak knife and just split the nipple on the bottle, thickened with rice cereal,and pour it into his mouth,no work involved on his part. I had tried boiling the nipples with tooth pics in them, making small splits in the nipples, so as trying not to drown him,but nothing worked. Finally after the big split, he was eating again, we were back on track.

Okay so now that we had him eating again and he was gaining a little weight, everything seemed ok. So why did I still have this feeling in the pit of my stomach, that something wasn't right? Between 3 and 4 mths, he seemed a little weak, but otherwise okay. He did however have a hard time after every set of shots. He would scream for hours. His doctor, at that time, assured us that everything was ok, to just give him Tylenol. The doctor said that it is normal for kids to cry and be fussy after shots, but I don't think he meant, for hours and hours,come on! By 5 mths he was a little behind,nothing major. By 6 mths he was no where close to sitting, which is a major milestone.At this age, he would arch his back and push backward, he hated the idea of sitting up. By 8 mths, still not sitting, something wasn't right, I knew, call it mothers intuition. At about 8 and a half months he had his first set of seizures.

He seized for about 20min before coming out of it and going into another one,that seizure lasted about 20 minutes as well. We didn't know if he would make it,and if he did, would he ever be the same again? Well he did. They called the seizures atypical febrile seizures. Atypical because there was only one side jerking,and febrile because he had a fever at the time. We didn't know what was happening. Our world was being turned upside down. Little did we know, that this was the first of many trials and tribulations to come.

Brady soon got out of the hospital, still not sitting by 9 mths, not pulling up, not crawling, but rolling well. We started our first Physical Therapy, and first seizure med, phenobarbatol, still with no reason for all of the seizures, delays, etc. He seemed as though his balance was just a little off. We were reassured by therapists and doctors that he would get it. We prayed for the best and expected the worst by this point. We knew in our heart of hearts, that there was a problem, but just didn't know if we were ready to face it. I guess that our biggest fear was something progressive, that could possibly take our little guy away from us.
Anyway I decided against , doctors orders, to take him to an ENT and just have him checked. Yep they found fluid in both ears which both ENTS thought had been there since he was born,this was great news,it explained so many things. Okay so because of being so behind and having a few ear infections before,the ENT and along with his dad and we chose to go ahead with tubes. He started sitting the very next day. We finally felt like we were getting somewhere, getting some much needed answers. Life was finally beginning to make some kind of strange sense to us.

But......... Pheno was a nightmare. Our precious little Angel went from the sweetest little baby in the world,to the worlds fussiest baby. He was just there, not responsive, other than to cry. He was just laying there, so not like him. He was changing. We expressed our concerns to the neuro and he just assured us that he was fine,that it was the safest medicine available. After 2 "normal" EEGS,and 9mths later we had enough of this medicine. Why hold him behind, since he was already behind before the meds? The neuro wouldn't hear of taking him off or changing meds. He was the doctor and he knew best, not!! We had to do something. So against doctors orders, and through a lot of research, we weaned him off. After a couple of weeks, our Angel was finally back, the sweet natured little man we knew he was all along was back. Thank God.

He done fine for about 9 mths. He did continue to miss milestones. He didn't walk, no talking, a little babbling, but not alot. But we just blamed it on the fluid in the ears, and the pheno, an all out rough beginning. I will admit, we were somewhat in denial that it could possibly be anything else. We hoped he would catch up! We tried to reassure ourselves that he would be fine, but deep down as parents we knew there was more happening than just him needing to catch up. We knew something wasn't right,but just didn't want to think that it could be something serious. We longed for some normalcy in our lives.I went to bed with him on my mind and prayed so hard,that he would be fine,and that we could put this nightmare behind us.And he was the first thing I thought of when I woke up every morning,the situation consumed my life. We dreamed of the day that our little boy would become a "typical" little boy.

He was between 18 and 20 mths when he had another set of seizures. He was hospitalized several times with seizures within that year. We then started discussing the possibility of something more serious such as chromosomal testing. We were hesitant for a while because we knew there was no magic pill for any chromosomal disorder,what is the point of knowing we said. I guess a part of me was so afraid that it would be something life threatening,I just couldn't face that.But after so many hospitalizations,and being transferred to a children's hospital 4 hrs away. We did decide to go ahead with the tests. We needed to know what was causing these horrible seizures,and find out what the future held for our family.

They explained to us that they thought he had Angelman Syndrome,we had never heard of it. They said we would have to wait til the tests came back to confirm it. In the mean time they did tell us that he had epilepsy,and he was put on a new med called Lamictal. They said it would take about 8 weeks to get the Angelman tests back. This is every parents nightmare,having to wait that long for such possible life changing news. That was one of the hardest things I have ever had to do,just wait!

After that hospitalization,we changed peds,we had to have someone closer to home,as we couldn't drive nearly 2hrs one way with him seizing. This was the best thing we could have ever done for us,and for Brady. Our new doc was concerned,compassionate and really listened to us. He says that the parents know their child better than anyone. He is the ped that seen Brady in the hospital after the first set of seizures. There again,God was working things out for us.

Anyways after the last hospital stay,we went home,and I got on the net, as I had done many times before. But this time was different,I had something new to search for. I typed in his symptoms,as the doctors listed them,and it pulled up Angelman Syndrome.I was in shock. My husband and I knew at this point that he had it. We prepared ourselves as best we could,for the test results. After a couple of weeks,the neuros office called to tell me that they had made an appointment with a genetics lab and to let me know the date. I then asked,does this mean he has it? She said she didn't know.Of course we said,why else would they make the appt if he didn't have it. I swear,some doctors and staff need a class for people first skills! After that I then called my ped and told him about it. He then called them and in return called me back. He said that it appears,he has a deletion in the maternal chromosome Ube3a. I knew what it meant,but I just had to ask "so he has it?"He said "yes,I'm so sorry". I was all alone with my son,and utterly devastated,I just held him and cried. I prayed for God to help us deal with this seemingly tragic news. There was just no way to be prepared for that kind of news,even though, I thought I was. I had tried to push those ,what if, thoughts out of my head until now,but I couldn't do that anymore. I just had to deal with it.

My husband came in from work that day and I told him,what he already suspected. He was devastated too. He just held him and we just stared into those beautiful blue eyes,and we wondered what kind of life he would have,what kind of future he would have. It was so hard to tell our family and friends. It did take us a little while to get used to the idea that our son was "mentally retarded",as the doctors so coldly told us,gosh I still cringe when I hear or say that word! I don't think of him that way. Brady is the same beautiful,loving,gentle little soul that he has always been from the very beginning,nothing has changed. He is the perfect little Angel,that God intended him to be.

Since that time he still has seizures,but is doing great otherwise. He will be 3 yrs in May and doesn't walk,we think he will soon though. He cant talk and they say he probably never will,but only God knows that and he is in the miracle working business. I feel honored that God thought enough of our family to let us look after one of his Angels! We have grown as individuals and as a family. We don't look at him as challenged anymore,we look at him as a blessing. He is great! He is innocent and has a pure love for everyone and everything. He brightens the day when he comes in,he just lights up the room. He loves to go shopping because it gives him a chance to socialize. Boy did they get that name right when they called him an Angel,there couldn't be a more fitting name for him. We said that if he has to have something like this,at least he can be happy,as that is a major characteristic of this syndrome,and he will have a normal life span most importantly,we are truly blessed! You can look at the cup half empty for half full,but I can assure you that if you see it as half full,it makes life so much easier.

I ask that you not feel sorry for him,but learn from him!He will most likely lead a better life than most of us. He draws anyone who meets him near and makes new friends where ever he goes. He has a huge loving,supportive group of friends and family members,great therapists and a great pediatrician.He has an exceptional big brother that looks out for him. We are truly lucky! God has blessed many peoples lives through our little Angel. Isn't God great!

I want people to not be afraid to talk to people who have special needs,or are not just like you and I. We to used to shy away from people who have special needs,or are different than ourselves,as do most people,afraid we might not know how to react,or just not know what to say. We are different now as our little Angel has changed our outlook on many things. So instead of turning the other cheek to these special people,embrace them,learn from them,they are great teachers,if you just take the time to listen. Brady says many things,with no words at all. Its in his smile,his laugh,and in just the way he treats everyone equally with the same amount of love,and passes no judgment on anyone. I just hope that his story can help those who do not understand people with special needs,to realize that they are human and that there is a story behind that face. They want the same things out of life as you and I,and that is to be loved and accepted. Just because Brady isn't your typical child,doesn't mean that he isn't just perfect,the way God intended him.God doesn't make mistakes!

Brady is currently in physical therapy,hydro therapy,occupational therapy,and speech therapy. He is doing great and we are so proud of him! He adores the water. He will do almost anything we want him to do as long as he gets to play in the water,the little fish!So hydro isn't work for him at all,its playtime.

This is a very rare disorder and there are only about 1000 diagnosed cases in the US and Canada combined. It is often misdiagnosed or isn't diagnosed at all. I want to bring about awareness,so that people can learn to recognize the symptoms and learn how to treat it,as there is no cure at the current time,only therapy,but it is important to start treatment as soon as possible. Most of all we want parents and loved ones,to have some type of closure, and not have to live in question, wondering what is different with there child. I used to say that I didn't know what was worse,to know or not to know. But now I know that is not to know.I just didn't know how lucky we really were.

Mommy of Angel Brady,Peyton,and wife to best friend and best daddy in the world Craig
DON'T FORGET TO COMMENT!

posted by angelwings @ 11:35 AM 24 comments

24 Comments:

At 7:11 AM, Elijah said…

Thanks for taking time to share your journey - life is alwasy so much richer knowing something of others on the journey - I am the day of Elijah 2.6 del + angel

Take care Darren
At 4:41 AM, Anonymous said…

Its stories like yours that are helping us come to terms with our little Angle, and come through the fog of having an Angle. Our baby girl who turns 1 this Friday was recently diagnosed with deletion, brings so much joy to my husband and I and her big brother.
At 3:51 AM, Anonymous said…

It was lovely to read your story and I believe you are truely blessed!!
Im doing some research on this as my little brother is 3 and my gran and I are suspecting this but dont no how to suggest to my mum.
Thank you for sharing your story and for your help, bless you all.
At 2:08 AM, Anonymous said…

A friend asked me if I had heard of Angelman syndrome so I decided to look it up.

Little did I know when I started my search that I would find a little boy who's smile is undiluted sunshine!

He is precious and so very beautiful!

Thank you for sharing his story.
At 1:57 AM, Rosie said…

Our angel Ryland is now 5 years old. He was diagnosed with AS deletion + at 11 months. His first few years of life were tough, not responding to anti-convulsants, poor feeding skills, severly developmentally delayed but preserverance paid off and today Ryland has been put on the ketogenic diet to control seizures, he is learning colors and objects through ABA Therapy ( a very good method of teaching AS children), after being told that he would be severely mentally retarded I think the medical specialists need to update themselves on the capabilities of AS children. Ryland is very close to walking, he is "time trained to go to the bathroom he is assisting with dressing skills,and communication skills and everything else we were told he would never do, so please don't give up, your angel can do much more than the doctors give them credit for.Thanks so much for sharing your story with me it makes me smile to know there are other people out there who feel the same way about their child and realize just how special they are!
At 2:38 PM, Unknown said…

I came across your site 'by accident' today. You are a very special lady. We'll be keeping you and yours in prayer. God is watching over you all.
JoAnne
At 12:49 AM, Unknown said…

I'm sitting here crying. My brother was just told the Dr's think that's what his 27 mo/ old daughter has. she's been in physical therapy, speech therapy, she doesn't talk at all and doesn't really babble like babies do either. she's developmentally way behind, she's had eye surgery for strabismus- and through it all, she's still been a blessing. laughing-laughing and making everyone else laugh. their dr was very rude telling them about it though... he asked my brother if him and his wife were related or something?? what was that supposed to mean? i have so many quesions about this and just came across your story when i was googling AS and i just wanted to thank you so much for your story. God bless you...and your angel:)
At 7:04 PM, Anonymous said…

I am doing a project for my bio class and we had to research a syndrome. I got assigned Angelman syndrome, not knowing what it was at the time. Many people in my class have been asking my teacher "why do we have to research topics that are sad to read about such as down syndrome and Angelmans syndrome?".
I feel the greatest honor to bring in a poster on monday being able to correct them and tell them there is nothing wrong or sad about the people who are living the life with this syndrome. They are just like you and me. I am only 15 and yet i feel like your 5 year old son knows more about life than i ever will. You are very blessed and i thank you for posting this blog. I wouldnt be suprised if my whole class reads this amazing story!
God Bless
Rachel
At 5:41 AM, Bree said…

A friend of mine recently shared the story of her granddaughter who has Angelman syndrome. Her grandaughter is a twin and it has been very hard for her family. I searched for info to better understand this syndrome and what they were going through. I came across your page and your sons story. Thank you so much for sharing this with everyone. It has helped me to better understand what she is going through and how hard it has been for her. Your family has such a positive outlook and lots of love for your son. Having a special needs child is life changing for all involved (I have 2 autistic children) and it is sometimes hard for those standing on the outside to feel what is in our hearts daily. I think your words and your story helped paint a loving picture of your angel. Again, thank you for sharing with us all.
At 4:00 PM, Marcel Cairo said…

Hi guys. Hi Brady.

We are the crazy campers that met you at Fred Gannon Rocky Bayou State park last week. We're back at home in Dallas (Plano), and we sure wish we were out at the lake riding around on your jet skis. :-)

Anyway, it was a joy and pleasure to meet all of you. You truly have a wonderful family, and your giving spirit is quite contagious.

When I get a free moment, I will send you pictures. Oh, I can't find your email anywhere on the blog, so please send me an email with your included.

All the best,
Marcel, Leigh, Nina & Waylon
At 8:07 PM, Daugs Family said…

Hi it was great to hear your story I have twin boys almost two. Yesterday we found out the diagnosis. We are just trying to breath for a minute.
At 5:44 AM, jess said…

Thank you so much for sharing your story my little sisster has been diagnosed with this syndrome only recently and is very hard to take in an understand as I am only 14 although I love kids and I have worked with disabled kids I hope manny more people can accept the not so typical children for who they are and when the children smile at them I hope they learn to smile back ,it makes one child's day so much better also disabled children are amazing they teach you so many things and each day I'm learning a little bit of there world as I slowly teach them about mine :) thank you so much for taking the time to share your story :)

Jess if possible may you please email me and we could possibly keep in contact thank you :)
myredrose_02@hotmail.com
At 10:54 PM, Annie said…

Wonderful blog! After two years of testing my little guy just got diagnosed with Angelman Syndrome. Your son's story sounds so very familiar! Minus the huge struggle with seizures... Alex only has tiny uneventful ones. The feeding during infancy sounded like a page straight out of my journal when he was a baby though...
Thanks so much very inspirational!
At 3:45 PM, Chad & Kim said…

My son is 7 years old & I know in my heart he has Angelman`s. My mother-in-law just watched Medical mysteries on Thurs night & we have been researching ever since. Thank you for sharing your sons story. I feel like we finally have an answer. I always knew I was raising an angel. Going for methylation test Tues...
At 3:49 PM, Chad & Kim said…

My son is 7 years old & I know in my heart he has Angelman`s. My mother-in-law just watched Medical mysteries on Thurs night & we have been researching ever since. Thank you for sharing your sons story. I feel like we finally have an answer. I always knew I was raising an angel. Going for methylation test Tues...
At 3:49 PM, Chad & Kim said…

My son is 7 years old & I know in my heart he has Angelman`s. My mother-in-law just watched Medical mysteries on Thurs night & we have been researching ever since. Thank you for sharing your sons story. I feel like we finally have an answer. I always knew I was raising an angel. Going for methylation test Tues...
At 1:00 AM, angelwings said…

Hi Chad and Kim,
Thanks for checking out our blog! I pray that you have answers by now and that your are finding the support that you need. My email is sfore@centurytel.net if you would like to contact me. I am also on facebook, as are the majority of other Angelman parents, if you would like to look us up. Remember that your not in this alone, so please dont hesitate to reach out to others. Please let us know if we can do help in any way. Sometimes we may need advice, while other times we just need to vent to or share with, those who truly understand. God bless!!!
At 9:46 PM, Anonymous said…

I am a sophomore in Muscatine Iowa. We are doing some research on Angelman Syndrome. I read your story and just thinking about it I am so sorry. I am so sorry for what you have gone through. It has to be hard. I am so happy to hear that he is doing great. There are kids at my school that have similar symptoms, and when kids make fun of them I get so angry. I always stick up for kids, I cant stand it when they are bullied. I hope there are people that do the same there. Once again, I am so sorry for what you have gone through. Would love to hear more on how he is doing!
At 12:18 AM, Unknown said…

I am a sophomore in Maui Hawaii. after reading this story i felt so amazed at the journey that Brady went through.Very heartfelt story.. Brady is an amazing young man. I am currently in highschool writing a research paper about children with angelman syndrome, and this story was truly touching and opened my mind to all new kinds of things to talk about with my teachers and friends.
At 12:19 AM, Unknown said…

I am a sophomore in Maui Hawaii. after reading this story i felt so amazed at the journey that Brady went through.Very heartfelt story.. Brady is an amazing young man. I am currently in highschool writing a research paper about children with angelman syndrome, and this story was truly touching and opened my mind to all new kinds of things to talk about with my teachers and friends.
At 5:49 PM, angelwings said…

Just looking back through all of your posts and I am in tears! Hopefully you guys will all see this and check in. Would love to know how you all are by now. We are doing amazing. Brady has been essentially seizure free since his last coma in 2011. He is thriving and in great health! Its amazing how far we have come :)
At 11:01 PM, Anonymous said…

Hi, I'm in the 9th grade and doing a project on Angelman's syndrome. Thank you, your story was a great help and I really understand a lot more about this disease. I will definitely share your story to my class! Thank you!
At 7:35 AM, restless soul said…

This is many years after. Great story and persective. The positive of this syndrome is the happy sociable aspect.

While that trait remains and dedicated families extend their kids skills, mobility etc they need to become aware of the few problem behaviours that can develop by their teens. They can get obsessive over some things, glutenous and fat, have tantrums.

To minimize these potential negatives for the future it helps to very early create stuctured parameters.

With food you need to make it seem it only appears at set times, set quantities with no other options than provided at the time (ignore requests for more aside from having a free to eat raw vege bowl)with them knowing the least possible about the kitchen, what's kept etc..Don't introduce desserts,treats, takeaways that get desired or even when out. These things only exist in very rare celebrations when unavoidable.

Don't go out of your way to keep pleasing or entertaining them beyond what you'd ever mind becoming an obssesive demand and overtaking other activities that need to occur.

Do have them exposed to from the get go to initially short periods of regular travel, trips, shopping, appointments, novel situations that you incrementaly extend so they don't flip out later when they need to deal with such. Always make sure that no meal is delayed in such events(healthy luch box &water ready), or get thirsty, or in clothes too hot or cold. Maintain calm unconcerned demenour, responsive not coercingl attentive, just what needs to be done regardless.

Watch out for trying too hard to set up too much that they like if it shuts them up, amuses them, settles them. You want your child to maximally be able to be comfortable in the regular world and if needed cope in a group home as an adult without being distressed.

Never underestimate later development and then a capacity to insinst on preferences that aren't good for them or others. This aspect of pre planning a child's world applies to many developmental impairments.

The worst transgressors are often parents of ASD kids justifying special frills as needs causing extreme problems in big teens out of control.

Angelmans kids maybe the least likely to be too awful later. Though their adorable early years are what catch many parents off guard. The diet is really the critical one and hardest if not set before hand.
At 4:35 PM, hala marji said…

Thank you for sharing your story... it really touched me since my baby girl (2 yrs old) has deletion. Hope will be able to share my story sometime..

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What is Angelman Syndrome?

About Brady

Read Brady's Story Here

I am 11yrs old and I have Angelman Syndrome. I may have this syndrome, but I dont let it hold me back. I love life and live it to the fullest every single day. My mom says that our research organization, Foundation for Angelman Syndrome Therapeutics, is working really hard on a treatment or even a cure for me and my friends. I am thankful to have 25 words but I look forward to the day that I can carry on long conversations and talk so much that everybody has to ask me to please be quiet for a few minutes :) Anyway, mom says Im awesome and super funny and I have to agree,lol.

See my complete profile

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