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Safety | School | Scoliosis | Seizures and Seizure Medication | Sensory Integration | Shoes | Siblings | Sleep Challenges | Social Security and SSI | Special Needs TrustStrollers| Surgical Procedures | Swimming

 

Safety

Consider a durable wall mounted gate for the top of stairs where your child with Angelman Syndrome plays and/or sleeps.  This is especially important if your hild has seizures. This continues to be a recommendation into teen/adult years.
Kelly

I couldn’t keep Kade in his seatbelt. I found this little piece of plastic heaven called The Buckle Boss. I have also had a French door installed in my kitchen. He can see in; we can see out; but it has a lock and a dead bolt on it for his safety. We use hotel latches for our entry doors.
Hollie Cook

At one of the ASF Walks we were told that it’s a good idea to call the police station and let them know you have a child with special needs for their files. They now know that our daughter is a wander risk. Buy the Buckle Boss online to help keep your child in their car seat.
Jason Hipster Lewis Center, Ohio   angel Chloe,  age 14

Little hook and eye locks on doors to pantries, bathrooms and closets help keep little angels out of food, water, and toys. Just make sure that they are low enough for other siblings to get to those places.
Michelle Ballante

Using a baby monitor at night helps alert to seizures or getting sick from reflux.
Jo Lynn Cooper

To keep our angel out of all of the other bedrooms, we put the locks on the outside of all of our doors.  This way he cannot get into anything dangerous.
Rene Smith

Everything in our home is locked. We don’t have nick nacks around the house. Every door is locked, every cupboard is locked, and knobs are removed from the stove. The refrigerator is locked, and especially the bathroom is locked. Child locks were not strong enough to keep my angel out, so we had to use durable metal locks.
Stephanie Sullivan  Modesto, CA  angel  Jeremiah  “JJ”,  age 8

Keypad locks sold at hardware stores keep angels safe and out of trouble. There are ones available for regular indoor doors and deadbolts. We have installed them on our front and back doors.  There are also locks on the pantry door, the garage door, the siblings’ doors, the furnace room and the office.  It is a great investment. Use a permanent black marker to label the code directly on the lock for easy use by the family.
Jim and Deb Stadnyk   angel Justin,  age 13

Due to decreased motor planning and spatial awareness, individuals with A.S. are likely to have significant safety awareness issues.  Ensure that your child has a safe place to play and work by decreasing clutter (especially on the floor) and eliminate visual distractions in places that may be difficulty to negotiate.  Also consider safety devices, such as gates at the top of stairs and fences outside.
Kelly

Our guy is very mobile, and very curious, so we describe him as a large toddler.  He is into everything all the time so we have to keep everything “baby-proofed” and we put away the breakables. He will not leave the electronics alone, and is forever digging into the cupboards and the refrigerator. So, we have locks on all the bedroom, refrigerator and garage doors. We also have a special enclosure on his bed to keep him from wandering at night, and we have alarms on all the exits so we know when he is trying to go outside without supervision.
Terri Spielman

I have an adult son who will not stop messing around with our big screen TV.  So, I put a (office desk) plastic matte in front of the TV.  I flipped it over with the “spikes” facing up.  This works for any area that you do not want the child or adult to go near. This really works well.
Corbin Thompson  Tacoma WA  angel Tyler Thompson, age 27

We noticed that our granddaughter had a tendency to rock when she sat on a chair.  We were afraid that she would fall off the chair.  To prevent this from happening, I mounted a regular chair on a platform which was a piece of wood about 3/4 of an inch thick. I then mounted four iron pipe fittings into which I placed the chair legs.  After that I poured roofing glue into the fittings.  Once hardened, the legs are permanently glued to the fittings.  With the chair mounted on the wooden platform this way, our granddaughter can’t rock because the chair is mounted on the platform and the weight of my granddaughter keeps the whole thing stable.
Patrick P. Fasang

I purchased a pill container and every week I put all of his medications in there for each day. Then, I don’t have to figure out or try to remember what he needs to take. It helps especially when you’re in a hurry.
Aina Abdullah  Fairfield, Ohio  angel Ra’Shawn Jarrett, Jr., age 21

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School (see Education)

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Scoliosis

http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/411/viewFullReport

As children with Angelman syndrome age, progressive side-to-side curvature of the spine (scoliosis) may become apparent. Scoliosis can develop in about 40% of adult individuals with Angelman Syndrome and may require braces or surgical correction.

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Seizures and Seizure Medication

http://www.angelman.org/resources-education/medical-info/epilepsy-and-its-treatment-for-providers/

Angelman Syndrome: Epilepsy and its Treatment for Providers

Angelman syndrome (AS) is a neurodevelopmental genetic disorder characterized by global developmental delays, severe speech impairment, disorders of balance or movement (usually ataxia), and frequent laughter, resulting from a defect in the maternally inherited copy of chromosome 15q11-13. AS can result from a deletion of this portion of the chromosome, inheritance of two paternal copies (uniparental disomy), a UBE3A mutation or a defect in the imprinting center. Some individuals meet clinical criteria for AS but do not have a clear genetic diagnosis. Epilepsy is present in over 80% of affected individuals, often presenting with multiple seizure types and is typically refractory to multiple medications.

Approximately 1,000 families of individuals with AS were contacted through the Angelman Syndrome Foundation (ASF) and asked to complete a questionnaire survey online. The survey contained detailed questions relating to the presence and presentation of epilepsy in AS, genetic subtypes of AS, and progression of epilepsy across the lifespan. Included were free text questions that asked respondents to describe their family member’s seizures in detail. The questionnaire additionally included detailed questions regarding the effects of various epilepsy treatments, both pharmacologic and non-pharmacologic, including free text questions asking family members to detail medication side effects.

There were responses from family members of 461 individuals with AS (subjects included in the study). The subjects had an average age of 5.3 years (<1-35 years) at diagnosis, with 65% of subjects having a maternal deletion, 18% with an unknown subtype, 7% each with uniparental disomy (UPD) and UBE3A mutations, and 2% with an imprinting defect (ID).

Of the 461 subjects, 86% had experienced seizures with an average age of seizure onset of 2.9 years. Multiple seizure types were reported in 60% of subjects (average of 1.9 types), and the most frequently reported were atonic seizures (41%), generalized tonic-clonic seizures (40%), and atypical absence seizures (37%).

Approximately 32% were reported to have complex partial seizures and 6% simple focal motor seizures. Of those reported to have seizures with partial onsets, 8% had secondary generalization. Overall, 11% were reported to have only partial onset seizures, while 30% had both partial and generalized seizures. In addition, myoclonic seizures, tonic seizures, infantile spasms, and Lennox-Gastaut Syndrome were also reported (Table 1). Seizure types were determined by detailed free-text descriptions of the seizures provided by family members.

Table 1. Prevalence and frequency of various seizure types and syndromes in those with epilepsy due to Angelman Syndrome.

Seizure Type/Syndrome Prevalence Frequency (seizures/week)
Atonic 41% 21.5
Generalized Tonic-Clonic 40% 9.2
Absence 37% 13.9
Complex Partial 32% 7.9
Myoclonic 12% 18.1
Tonic 9% 10.4
Secondarily Generalized 8% 8.6
Partial/Focal Motor 6% 11.4
Infantile Spasms 2% 12.3
Lennox-Gastaut Syndrome 1% —-

 

At the time of the survey, 34% were reported to be seizure free for a median period of 3.2 years with 23% experiencing seizure freedom for over 1 year. The average age of seizure freedom was 8.8 years. Of the 396 subjects with seizures, 280 provided adequate data to determine rates of current epilepsy (those with seizure activity over the past year were considered to have “current” epilepsy). These rates are listed in Table 2. In addition, approximately 28% of those over 15 years of age reported an increase in seizure frequency after puberty.

 

Table 2. Percentages of those in various age groups with current epilepsy (as defined by seizures in the past year) for the 280/396 with epilepsy who provided adequate data as well as the 65 who never had seizures (N=345).

Ages Percent with Current Seizures Total in each Group (N)
<3 46% 30
3-5 60% 58
6-8 61% 51
9-11 71% 42
12-14 52% 46
15-17 53% 45
18 or older 59% 73

 

While it is unclear what percentage of subjects experienced non-convulsive status epilepticus (NCSE), 137 of the 396 with epilepsy (35%) were described as having some regressions in development. Of those instances of regression, 96 were attributed to seizure activity while 15 were attributed to medication and the remaining 26 to medical illness, environmental changes, or an uncertain etiology.

There were no statistically significant differences in seizure types or epilepsy rates based on gender, but there were clear differences in rates of epilepsy among genetic subtypes. Those with maternal deletions and unknown subtypes had the highest rates of epilepsy (89% and 90% respectively) while those with ID were the least affected (55%) (Table 3). There were no significant differences in seizure types amongst the different genetic subtypes, except for the more catastrophic epilepsies such as infantile spasms and Lennox-Gastaut Syndrome only occurring in those with deletions or unknown subtypes (Table 3).

 

Table 3. Prevalence of various genetic subtypes in Angelman syndrome with associated rates of epilepsy, multiple seizure types, and catastrophic epilepsy syndromes.

Genetic Mutation Percent with AS Percent with Epilepsy Multiple Seizure Types IS or LGS
Maternal Deletion 65% 89% 72% 4%
Unknown/Clinical 18% 90% 60% 3%
Uniparental Disomy 7% 75% 38% 0%
UBE3A Mutation 7% 74% 80% 0%
Imprinting Defect 2% 55% 80% 0

 

1. IS – infantile spasms  2. LGS – Lennox Gastaut Syndrome

The most commonly prescribed medications amongst subjects with epilepsy were valproic acid (VPA – 62%), clonazepam (CZP – 34%), phenobarbital (PB – 30%), topiramate (TPM – 30%), carbamazepine (CBZ – 24%), lamotrigine (LTG – 24%), and levetiracetam (LEV – 20%). The complete list of medications is located in Table 4 along with average doses and lengths of treatment for the most commonly used medications. At the time of the study, subjects were on an average of 1.2 current medications, with 40% currently on monotherapy and 64% having tried multiple medications (average of 3.2 medications). Only 15% achieved good seizure control with their initial AED and an additional 8% with a second agent, with the remaining 77% refractory to medication.

 

Table 4. Percentage of individuals with AS and epilepsy who have tried various anti-epileptic drugs (AEDs), with average dose (mg/kg/day) and length of treatment for whom that information was available.

Medication Percent Tried Average Dose (mg/kg/day) Average Course of Treatment
Valproic Acid 62% 16 (N=86) 51 months
Clonazepam 34% 0.4 (N=40) 36 months
Phenobarbital 30% 31. (N=9) 14 months
Topiramate 30% 4.4 (N=28) 30 months
Carbamazepine 24% 7.3 (N=3) 33 months
Lamotrigine 24% 8.1 (N=24) 13 months
Levetiracetam 20% 44.4 (N=23) 20 months
Phenytoin 20% —- —-
Zonisamide 10% —- —-
Ethosuxamide 8% —- —-
Gabapentin 7% —- —-
Felbamate 7% —- —-
Oxcarbazepine 5% —- —-
Tranxene 4% —- —-
Clobazam 4% —- —-
ACTH 2% —- —-
Nitrazapam 2% —- —-
Other 5% —- —-

 

1. “Other” includes pregabalin, mysoline, and vigabatrin.

Subjects’ family members were asked which medications worked best in controlling their epilepsy if they had tried multiple medications. VPA (25%) had the highest response rate followed by LEV (18%), LTG (17%), and TPM (14%). The lowest response rates were to CBZ (2%) and PB (2%). Similarly, LEV (37%) and VPA (28%) were associated with the highest rates of seizure freedom, followed by CZP (24%) and TPM (20%), with CBZ (4%) having the lowest rate. CBZ, by far, was associated with the highest rate of seizure exacerbation (59%), followed by PB (15%). See table 5 for a complete list.

 

Table 5. Efficacy of the 7 most commonly prescribed medications as evidenced by the percent that felt the medication worked best for them (of those who tried multiple medications), as well as those who felt the medication provided a period of seizure freedom or exacerbation.

Medication Worked Best Seizure Freedom Seizure Exacerbation
Valproic acid 25% 28% 5%
Clonazepam 11% 24% 5%
Phenobarbital 2% 13% 15%
Topiramate 14% 20% 8%
Carbamazepine 2% 4% 59%
Lamotrigine 17% 11% 13%
Levetiracetam 18% 37% 12%

 

Rates of seizure freedom and seizure exacerbation for the most commonly prescribed AED in AS

Of the seven most commonly prescribed medications, approximately 50% or more of subjects who had tried CZP (64%), LEV (59%), VPA (54%), LTG (50%), and TPM (49%) were still on that medication at the time of the survey, whereas only 13% of those who had tried PB and 9% of those who had tried CBZ were still on those medications at the time of the survey, indicating these medications may have better tolerability and efficacy than PB and CBZ. Similarly, CBZ (45%) and PB (32%) were most frequently associated with intolerable side effects, followed by TPM (22%), VPA (17%), LTG (17%), LEV (14%) and CZP (5%). VPA did, however, have some potentially serious side effects with 3 patients reporting pancreatitis, 4 patients temporarily losing the ability to ambulate, 5 experiencing a drop in platelets, and one other experiencing a decreased white blood cell count There was also one child on LTG who developed Stevens-Johnson syndrome. See Table 6 for a complete list as well as the most common side effects for each medication.

 

Table 6. Tolerability of the 7 most commonly prescribed medications as evidenced by the percent still taking each medication and the percent that reported intolerable side effects, with the most common side effects listed for each medication.

Medication Percent still taking Worst side effects Other side effects Most common side effects
Valproic acid 54% 13% 4% Tremor (8%); Fatigue (7%)
Clonazepam 64% 4% <1% Fatigue (8%); Hypotonia (6%)
Phenobarbital 13% 20% 12% Lethargy (14%); Irritability (9%)
Topiramate 49% 15% 7% Weight loss (8%); Cognitive slowing (7%)
Carbamazepine 9% 37% 8% Increased seizures (20%)*; Fatigue (6%)
Lamotrigine 50% 12% 5% Rash (6%); Fatigue (5%)
Levetiracetam 59% 10% 4% Lethargy (5%); Irritability (4%)

 

Percentages of those still taking each of the most commonly prescribed AED in AS as well as percentages of those who felt each AED had the most intolerable side effects

Approximately 17% of subjects tried non-pharmacologic therapies for their epilepsies. The most common was dietary therapy with 40 subjects (11%) having tried this modality including 31 (8%) on the classic ketogenic diet, 7 (2%) on the low glycemic index treatment (LGIT), and 2 (~1%) on non-standardized diets. In addition to dietary therapies, 16 (4%) subjects had a vagus nerve stimulator (VNS) implanted. (Table 7).

 

Table 7. Efficacy and tolerability of non-pharmacologic treatments for epilepsy in AS as evidenced by the percent of those for whom the treatment worked best and the percent still using each treatment.

Treatments Percent Tried Worked Best Still Using
Ketogenic Diet 8% 36% 19%
Low Glycemic Index Therapy 2% 0% 57%
Vagal Nerve Stimulator 4% 17% 50%

 

This is the largest study to date examining epilepsy and its treatments in AS. Epilepsy is very common in AS and, typically, quite refractory to medication.

Although epilepsy in AS is considered a generalized epilepsy, apparent partial onset seizures were fairly prevalent, though they did not respond well to medications, such as CBZ, which are used to treat focal seizures and typically exacerbate generalized epilepsies. Epilepsy was most severe in those with maternal deletions but, interestingly, the 18% of subjects who had an unknown/clinical diagnoses had epilepsy rates similar to those with deletions (90%), and the more catastrophic epilepsies such as infantile spasms and Lennox-Gastaut syndrome were only seen in those with deletions or unknown subtypes. Another significant finding of this study is that newer AED’s, specifically LEV and LTG, and to a lesser extent TPM, appear to have similar efficacies in treating epilepsy in AS as compared to the older, more commonly prescribed medications (VPA, CZP) and have similar or possibly better side effect profiles with no need for routine blood monitoring (as with VPA), and less risk of potentially serious side effects. Non-pharmacologic therapies such as dietary therapy and VNS also show favorable efficacy and tolerability, but due to small sample size further studies are needed. Further characterization of epilepsy in AS, in addition to advances in genetic analyses, will hopefully lead to a better understanding of the pathogenesis of epilepsy in this population and, ultimately, better approaches to effectively treat epilepsy in AS.

The Angelman Syndrome Foundation gratefully acknowledges the contributions to this publication: Ronald L. Thibert DO, MSPH(1); Kerry D. Conant(1); Eileen K. Braun(2); Patricia Bruno RN(1), Rana R. Said, MD(3); Mark P. Nespeca, MD(4); Elizabeth A. Thiele, MD, PhD(1)

1.Pediatric Epilepsy Program, Massachusetts General Hospital, Boston, MA; 2. Angelman Syndrome Foundation, Aurora, IL; 3. Pediatric Neurology Division, University of Texas Southwestern Medical Center, Dallas, TX; 4. Neurology Division, Rady Children’s Hospital/UCSD Dept. of Neuroscience, San Diego, CA

***SEE BAR GRAPHS BELOW.

Seizure Meds

 

 

 

Seizure Medication Freedom

http://www2.massgeneral.org/childhoodepilepsy/index.htm

This website provides education about epilepsy and its impact on children and families. This site includes video explanations of the different types of seizures by Dr. Elizabeth Thiele.

https://www.seizuretracker.com/

This site is dedicated to providing people living with epilepsy and their doctors with free comprehensive tools to help understand relationships between seizure activity and anti-epileptic medications. Become active leaders in your individual with AS’s treatment, working hand-in-hand with doctors. Easy-to-use tools found at SeizureTracker.com allow you to create personalized reports of logged seizure activity and medication history that can be easily shared with their medical team.

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Sensory Integration

Sensory integration therapy and related activities have been extremely necessary for our child as a means to regulate his nervous system. Sensory activities which have worked include: swinging; wearing a body sock; and playing with clay, silly putty, shaving cream, lotion, or similar items.  Other activities include: finger painting; playing in water; playing at a sensory table; swimming; throwing balls or rocks; walking; getting deep pressure or light touch; sitting in a bean bag; eating cold or crunchy food; listening to music; using a vibrating toothbrush or jiggler; using noise canceling headphones; etc…

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Shoes

We struggled with shoes to fit over the AFO’s and could never find anything that worked well. We finally bought a pair of Hatchbacks, which are made to fit over AFO’s. They were more expensive, but they lasted a lot longer and were safer for our daughter to wear, since she didn’t trip over them all the time!
Christine and Giovanni Rompato Logan, Utah  angel Chiara,  age 5

Make sure that your child/adult’s socks are pulled out some and the toes have room to move.  Otherwise he could get ingrown toenails.
Martha Emmons

Our daughter hates shoes and it is a challenge to keep them on her!  We purchase high top wrestling shoes. They are lightweight and offer good ankle support. Check the internet as they can be hard to find!  We have found some cute, colorful ones at times.
Alice and Mark Evans  San Diego, CA  angel Whitney, age 33

The best shoes we’ve found for our nine year-old angel are good old Chuck Taylor’s (High top Converse) tennis shoes. We get them at Fred Meyer or you can get them online.  They are high-top so they stay on; they tie so my son can’t get them off; and they’re low profile so you can change diapers and clothes with the shoes still on!   Not having to take off shoes when changing a diaper is awesome! They’re also great as swim shoes because they dry quickly and, again, they stay on.  We use them at the beach and water parks, too.
Molly McCoy  Seattle, WA  angel Reid, age 9

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Siblings

Is there an older sibling out there who would like to take on a project?  Perhaps it could be a project for which you get independent study credit or meet a requirement for a club/church/community service activity.  How about reviving The Halo Club newsletter or a website name of your own choosing?  The Halo Club was a quarterly newspaper created by siblings back in the pre-social media days!  It included articles and photos submitted by AS siblings around the world. It was printed and mailed.  However, this NEW project would be much easier!  A Facebook page or website could be created.  Siblings could email their contributions to the “main editor” of the website who would review the items and post them.  If it were a Facebook page, the siblings could post directly.  Wouldn’t it be fun to share photos of angels and their siblings, conduct surveys, organize a fundraiser for Angelman Syndrome and more?
Alice Evans  San Diego, CA  angel Whitney, age 33

My daughter Elena, age 23, is living at home with her father, mother and two of her three siblings. She is the second of four siblings. When her brother Daniel was born, she was seven years old. When we got Daniel home from the hospital, the baby was crying inconsolably. Elena took a piece of plastic that apparently she had hidden under the coach and put it over his crib in an effort to calm the crying baby. Elena was giving him his greatest treasure…her piece of plastic!! This was her first expression of love for her little brother.
Maria Galan  Madrid Spain angel Elena, age 30

We suggest including your angel in sibling sports activities.  Justin is the flag bearer and equipment manager for the football team. He led the team onto the field for games and helped carry the equipment for practices. It’s been such an incredible experience. The boys on the team are from all over the city and are always very excited to see Justin.  He is treated like a celebrity and loves all the attention. We now have a lot more people knowing Justin. He is accepted and there is a greater understanding of Angelman Syndrome throughout the community. It’s a win-win situation for both our son and his peers.
Jim and Deb Stadnyk  angel Justin, age 13

Our older daughter said it best when she exclaimed, “There is no normal! Everyone is different and needs to be cherished.”  She loves her little sister with all her might, but her little sis can still drive her crazy!  I tell her that THAT is normal! Siblings can and will drive you crazy. That’s their mission in life, but they can also be your best friend!
Leah Boice  Ellington, CT  Emily age 7 Del +

Both of our angel’s siblings say he has teaching them to be patient and to value what really matters…not the material things.  They also have said that having an angel as a sibling has helped the family to be more united.
Brisia Barba  Chihuahua, México, angel Mario, age 9

Our angel attended her older sister’s sports activities and essentially became a mascot of sorts.  It taught our daughter’s friends invaluable lessons about inclusion and sensitivity toward others with special needs.  It also greatly enhanced the life of our angel and she loved being part of all of the action!
Alice and Mark Evans  San Diego, CA  angel Whitney, age 33

*** All submissions below appeared in the 1999 edition, Angelman Syndrome from A to Z.

Siblings of children with Angelman Syndrome face unique challenges. Many siblings often offer their help. However, it is important for parents to encourage siblings to spend time with their peers and participate in extracurricular activities. Sibshops and peer support groups can be a fun and social way for siblings to deal with their feelings about AS brothers or sisters. Many siblings have reported feeling more independent and sensitive because of their angel brother or sister.

Concerning having more children, the most common worry parents feel is that they won’t have enough time to spend with typical children because of the care required by their AS child. They also express concern about the future and leaving other siblings with too much responsibility after they are gone. However, one mother reported that having a second child was the best thing that ever happened because she appreciated every tiny milestone and was in awe of a typical developing child.

Although each child and situation is different, many sibling or relative’s thoughts and feelings are similar. The absence of speech seems to be one of the biggest issues for children to understand and accept. The most important thing to keep in mind is that children are bound to experience negative thoughts and feelings towards their Angelman siblings at different times throughout their lives. The feelings are normal and should be respected and discussed. Dealing with feelings of anger, resentment and disappointment early on can help lay the groundwork for a strong and positive relationship between your children later in life. Children need to know it is okay to experience these feelings and you will be amazed at the response you get when you tell them that you have experienced these very same feelings, as well.

Anecdotes:

We used to feel like we weren’t able to do enough for Jennie’s older brother, Jim.  However, he turned out just fine! My husband and I would take turns taking our typical child special places and made sure he had friends over and went to their houses. He was in lots of local recreational activities, too. I would also try to give him a special time every day.At a recent family birthday party, instead of running around with the other kids, Amanda, (my AS son, Devin’s cousin) brought a big pile of books downstairs and spent the next half an hour on the couch “reading” to Devin.

I had four teenagers in junior and senior high when Susan (AS) was in the seven to ten year-old age range. I think it all balanced out very well. Their problems at times were so challenging that we couldn’t get overly involved with Susan and her needs. At the same time, caring for her kept us from becoming over anxious about all those typical teens!  I am pleased to report that our typical children seem to be well-adjusted young adults. They now joke about all the things they got away with because of Susan’s needs!

Samantha (AS) has an older brother who is seven and a younger one who is almost three. We really didn’t think about having another child, it just happened. It has been the best thing for Sam. They all do a lot together and she really watches her younger sibling. The younger one has surpassed her developmentally and so now he is a good role model. They fight like cats and dogs sometimes, just like any siblings would. He has begun talking for Sam and is very protective of her. He is always saying, “Mom, Sam wants….” They love to wrestle and watch Sesame Street together and were even holding hands in the back seat of the car the other day. Her older brother also loves to wrestle with her and he is excited that she will be in his school next year. They do fight more because he wants more space and she loves to invade it!!! But, he is very protective of her. When he was little he responded to an explanation of why Sam couldn’t talk by saying that he knew what the problem was – Sam was talking, but nobody understood her because she was speaking French! For us, it can be hectic, but having other children allows us not to focus too much on Samantha. She does need a lot of care, but having other children allows us to focus on the more ordinary things in life. So, it can be a difficult decisio,n but I think it is very beneficial to have other children.

When Ashleigh (our older daughter and AS sibling) was six we enrolled her in the Big Brother/Big Sister program. It was the first time the local group had a child who wasn’t from a single parent family. I explained that I wanted a sister for Ashleigh because I felt she could use one-on-one attention, and because I wanted her to have a “sibling” she could talk to and for whom she could share a special bond. Her first Big Sister was a television news editor. Ashleigh was in her wedding! Her second Big Sister, who was a marriage and family counselor, spent many years with her and attended her high school graduation. It was so wonderful for Ashleigh. They went to the beach, the movies, rollerblading, shopping, etc.
Alice and Mark Evans  San Diego, CA  angel Whitney, age 33

My angel is the oldest at six and we also have a two year old. Rachel started pulling up more and walking with assistance once her younger sister started walking. My oldest child also modeled how to go up and down the stairs and now Rachel can do it, too!  They are both pretty possessive of me and jealous when I am giving attention to one and not the other. I usually snuggle both of them at the same time! Having another child has made us feel more like a typical family and takes some focus off of Rachel’s disability.

On my walk today I was thinking about Scott, my non-AS child and how wonderful he is. He is almost 17 and a junior in high school. He is a happy, well-adjusted, successful and overall good kid. I used to worry about adolescence with him, but so far none of my fears have come true. He seems to have survived our unique family and thrived. I don’t believe he has felt neglected because of Katie; in fact, he probably has felt some suffocation at times. It is possible to have a healthy and happy family situation, in spite of some obstacles we all face. This is a link to the Sibling Support Project website:  http://www.siblingsupport.org/

When I Realized My Older Sister is Different
b
y: Christina Spaeth,  Angelman Syndrome Sibling

http://themighty.com/2014/11/when-i-realized-my-older-sister-is-different/

When I was a kid, I didn’t want adventure. I wanted normalcy. There were so many times I wished, for my sister’s sake, she could be a normal big sister who could give me advice, date boys and share clothes with me. That’s not what I have. I have Emily.

Emily has a random mutation of a single gene — something minuscule changed her entire brain, resulting in Angelman syndrome, a rare neuro-genetic disorder that causes severe developmental delays, absence of speech, gait/movement/balance problems and in most cases, seizures.  We’re lucky, however, because unlike the majority of cases, Emily has a mutation of the UBE3A gene, instead of the deletion.

She’s therefore more mildly affected than those with the deletion, who sometimes cannot walk. Emily learned to walk at the age of 3 and has never had seizures. Because the technology was not yet developed enough to detect her genetic mutation when she was young, she was not diagnosed until high school after extensive genetic testing at the University of Chicago. So before that, I had to use phrases like “severely cognitively disabled” in an attempt to explain my sister.

I remember the day I realized my sister was different. I was around 3. I’d gotten a splinter and ran inside to my mom. I sat down on the kitchen floor and waited for my mom to get tweezers and a Band-Aid. Emily, 6, sat down next to me and fussed for a Band-Aid. “I know, honey. You want one too,” my mom said, wrapping one around Emily’s finger, even though there was no need. As I sat there watching this, some connection sparked in my brain: “I’m growing up ,and Emily never will.”  That is one of my first memories.

Emily turned 23 this year. We have another brother who is five years older than her. It was a confusing limbo for me as a child, since I was physically younger than Emily but mentally older.  Emily will always be about 3 years old cognitively. When I was a kid that was kind of fun since I always had a playmate. We would run around in the backyard (albeit, Emily kind of shuffled) and swing and play in the sandbox. I learned not to get upset when she knocked down my sandcastle and to stay away if she got angry. As my parents taught me, the rest of us have the ability to use words when we’re upset, but Emily doesn’t so she expresses it any way she can, generally by having a tantrum. The best thing to do was get out of her way when she was mad and let my parents handle it.

I didn’t know how to talk about my sister when I was young. One neighbor girl, when we were 5, asked, “Does your sister wear diapers?” I hated the snotty look on her face so I lied and said no. A few years later, at Chuck-E-Cheese for my eighth birthday, Emily and I were crawling around the tubes and two younger girls watched as she passed by. “She’s fat,” one said to her friend. I bit my tongue and shoved Emily forward. Even though she didn’t understand the words, I certainly did. In middle school, when a fellow classmate was making fun of individuals with disabilities, I kicked him in the shin.

All of this information, these anecdotes, these memories, have been buzzing around my head for months. I’ve been trying to organize my thoughts about Emily for a long time. How does she see the world? How does she see me? I’m her translator, her referential point in new situations, her protector, her teddy bear. I know her language of noises, pointing and signs as if I were bilingual. It’s not easy all the time. She has impressive tantrums, sometimes in public.

She’s like a clingy puppy when I’m home from college. And yes, she can be kind of gross, like a toddler would be. I’d rather not say the amount of times I’ve been sneezed on.

But you know what? Without her, I wouldn’t be who I am. I wouldn’t be as compassionate and patient towards people of all abilities. I wouldn’t have written about her in my college essays and in magazines. I wouldn’t be studying to be a speech-language pathologist.

Emily is always giving hugs and kisses. Yes, she has big temper tantrums, but she generally has an exceptionally happy demeanor. She has the biggest belly laugh you ever heard. She loves things with wheels, musicals, bowling, baseball, swimming, ice cream, family and friends. Her vision and hearing are sharp and her memory even more so. She never forgets a face or a route to get somewhere. She adores riding in the car and could do it for hours on end. She loves to cuddle. She likes to tease and play jokes on people. She writes “Em” on everything she owns. She squirrels away things in her many backpacks, stuffing them beyond belief. She enjoys shredding paper. She flaps her arms when she’s happy. She cries at sad music and laughs at slapstick comedy. She’s the most loving, forgiving person I know. That is what I have. I have Emily.

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Sleep Challenges

We are big on routines. It worked for our typical child, so we continued with it. We are not sure if we are just lucky or if it is our routines that help our angel have a pretty normal sleep pattern.
Leah Boice  Ellington CT   Emily, age 7 Del +

Establishing a routine early on has helped calm my son Coby. We dim the lights and turn down the television at about the same time every night. We then put him into bed at almost the same time and lay with him until he falls asleep. His older siblings also know to use gentle voices at night.
Maria Leon Guerrero

Routine is essential for our Angelman child. It assists with normalizing his wake/sleep cycle and keeps his behaviors to a minimum if he knows what to expect as the day progresses.
Terri Spielman

Our daughter, who had serious sleep issues as a child, has slept well as an adult for many years. We have not used any medication (OTC or prescribed) for sleep. A regular nightly routine and bedtime is important. There have been issues when we travel, but they only last one night.  Keeping her active during the day really helps!  (She even takes a nap occasionally!)
Alice and Mark Evans  San Diego, CA  angel Whitney, age 33

Our angel didn’t sleep all night through until we took him to Neurofeedback. Since then he usually sleeps fairly well. Of course, he still takes medicine to do so, but before Neurofeedback even with medicines he didn’t do well. We use a mattress protector and also another waterproof protector right under his diaper area so that we don’t have to take off all the sheets if he gets wet.
Brisia Barba  Chihuahua, México, angel Mario, age 9

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Social Security and SSI

Benefits http://www.ssa.gov/pubs/EN-05-10026.pdf

Social Security Disability Benefits & SSI Disability Claims
http://www.disability-claims.net/

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Special Needs Trust

Here is a website that offers further information:
http://specialchildren.about.com/od/longtermplanning/qt/fftrust.htm

A special needs trust is a trust designed for beneficiaries who are disabled, either physically or mentally. It is written so the beneficiary can enjoy the use of property that is held in the trust for his or her benefit, while at the same time allowing the beneficiary to receive essential needs-based government benefits.  There are administrative advantages of using a trust to hold and manage property intended for the benefit of the beneficiary if the beneficiary lacks the legal capacity to handle his or her own financial affairs.

In the United States, such trusts provide advantages in helping beneficiaries qualify for health care coverage under state Medicaid programs, and also for monthly cash payments under the Supplemental Security Income (SSI) program operated by the Social Security Administration.

Through a lawyer, we set up an irrevocable trust for our son.  This is so we can provide funds for things he needs that Medicare and Medicaid will not pay for after our death.
Susan Pike

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Strollers

We have a Convaid EZ Rider stroller for errands since she doesn’t have stamina for long periods of time. It is also approved for bus transport, but we haven’t used it that way. She is a walk-on bus rider, and they have her wheelchair at school, if needed.
Sandy Blagg  Grayson, Georgia, angel Elizabeth, age 13   Del+

My daughter was going to start school when she turned three. We had to buy a wheelchair for her to ride the bus and get around school. I really didn’t like the look of many wheelchairs since she was so young, so we ended up getting an Omega New Bug Stroller that was approved for the bus. It is nice to have since it folds up and it has two different ways of reclining if she wants to sleep. It maneuvers very well with hard rubber wheels and is easy to clean. She is now almost seven and we need to look into something else since she is about to outgrow this one.
Audra Bloxsom

We have always enjoyed going for walks. We got our angel a special needs jogging stroller once she outgrew the basic baby jogger. We have the Independence by Advance Mobility which has allowed us to go on family walks, enjoy the fresh air, and keep our stress down.
Sandy Blagg  Grayson, Georgia, angel Elizabeth, age 13   Del+

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Surgical Procedures

Our thirty-three year-old angel was in need of a corneal transplant in both eyes (see Eye Issues).  We feared it wouldn’t be possible because of the risks involved in the lengthy post surgical period.  Our daughter is extremely tactile defensive and we knew she would want to rub her eyes and likely damage the new corneas.  Since her eye issues had greatly impacted the quality of her life, we ultimately felt we had to go forward with the surgery.  However, we knew it would take a team effort!  First, she would need general anesthesia for the surgery instead of the typical outpatient procedure with mild sedation.  That needed to be approved by insurance.  We knew the only hope for protecting the new corneas would be for her to be admitted into the intensive care unit of the hospital for two or three days.  That needed to be approved by insurance and our family doctor had to handle the admission process and the follow-up care. In the ICU, our daughter was kept heavily sedated and we kept by her bedside the entire time.  The first surgery for the first eye was more “trial and error” with the sedation.  However, the second surgery went extremely smoothly!  After we took her home it was challenging to ensure that her eyes were protected for the first crucial days.  We did sleep next to her at night. The hospital provided soft “mitts” which she tolerated pretty well. She loved that we laughed when she tried to be sneaky and pull them off! We kept the entire process as light and humorous for her as possible. The neurologist did prescribe a mild sedative or we would give her Benadryl.  The consequence of our efforts is that she can now see well and is back engaged in life fully!  The message is… ANYTHING IS POSSIBLE!
Alice and Mark Evans  San Diego, CA  angel Whitney, age 33

Our daughter has under gone several procedures for which general anesthesia is necessary. (tonsillectomy, wisdom teeth removal, eye surgeries, etc…) The best methodology for us is to accompany her into the surgical room and wait until the mask is placed on her face and she quickly drifts off to sleep. (Once a sedative was injected before the surgery and it was disastrous!)  We always remind the doctors that she is to have no neuroleptics (which she had a severe reaction to in the ER once) and we request that an anti-nausea drug, like Zofran, be included in the IV.  Every surgical procedure was very difficult emotionally for us, but the loving, caring staff of the hospitals helped tremendously!  They are all heroes!
Alice and Mark Evans  San Diego, CA  angel Whitney, age 33

Anesthesia recommendations for patients suffering from Angelman Syndrome:
https://www.orpha.net/data/patho/Pro/en/Angelman_EN.pdf

This is a Case Report: Anesthesia of a Dental Patient with Angelman Syndrome
by:  Bo Sung Kim, Jin Seok Yeo, Si Oh Ki

Go to this site to read the entire report: http://synapse.koreamed.org/DOIx.php?id=10.4097/kjae.2010.58.2.207

Excerpts from the Report:
Angelman Syndrome is characterized by a partial deficit of paired autosomal chromosome 15, which contains a subunit of the GABA (Gamma-Amino Butyric Acid) receptor. Many drugs that act on the CNS (Central Nerve System) during anesthesia are believed to exert their effects via the GABA receptors. We describe the anesthesia of a 7 year-old female patient with Angelman syndrome who underwent surgery for dental caries. The basic factors that needed to be considered when administering anesthesia to this patient were epilepsy, significant dominance of the vagal tone, craniofacial abnormalities and peripheral muscular atrophy.

Inhalational anesthetics (sevoflurane) were employed for this patient. The patient had an uneventful peri-operative period and was discharged home on the same day of the operation.

The chromosome defect is responsible for the dysfunction of the GABA (Gamma-Amino Butyric Acid) receptor, as well as the damage to the synthesis and secretion of GABA. The GABA receptor is a common channel for the action of many drugs used for general anesthesia. Patients with Angelman syndrome have an impairment of this receptor, and need to be placed under general anesthesia even for a simple procedure. The anesthetic problems related to the syndrome involve seizures, hyperfunction of vagus nerves, malformations of the skull and facial bones, peripheral muscular atrophy, etc. We report a case of general anesthesia of a 7 year-old female outpatient with Angelman syndrome for the treatment of dental caries with a review of the relevant literature. This case shows that peripheral muscular atrophy in general anesthesia for outpatients requires more careful attention…..

Therefore, it is reasonable to minimize or avoid administering an excessive dose of benzodiazepine to patients with this syndrome, and to refrain from using halogenated ethers as an inhalation anesthetic. From a theoretical viewpoint, intravenous anesthesia using a combination of propofol and fentanyl, which are not known to collide with the GABA system, will be safe.

On the other hand, patients with AS can show symptoms of separation anxiety due to their severe mental retardation. For child patients who show separation anxiety at general anesthesia for outpatient surgery, securing an intravenous route after admitting the patients into the operating room accompanied by their parents and sedating them with inhalation anesthetics is desirable for reducing the children’s anxiety.

Patients with this syndrome usually require general anesthesia for orthopedic surgery for the skeletal system dysfunction or even in a simple operation because they are uncooperative. AS may not be detected at birth or during infancy, and is revealed mainly after the age of four, when the characteristic behaviors and signs appear.

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Swimming

This is a link to an Adaptive Aquatics website.
http://www.adaptiveaquatics.org/default.aspx/?id=2

The swimsuits our son first used was a disposable diaper bought through Northshore Care Supplies. We also made him a plastic brief with Velcro that he uses on top of the diaper and underneath the swimming suit.
Brisia Barba  Chihuahua, México, angel Mario, age 9

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