Angelman Syndrome

[PatsMom]

My almost three year old niece finally has a diagnosis! The Mayo Clinic geneticists finally pinned down Angelman Syndrom. It is not common so not something that a lot of pediatricians are familiar with. And she has an odd variation of having two paternal chromosome 15's rather than a mutation on the maternal choromosome 15 or a missing gene. So her prognosis is pretty uncertain at this point.

I am pretty close to my niece, she is my goddaughter so I plan to continue helping out my brother and sister in law. My mother and I are their backup caregivers. The most disappointing thing for us is that my mother may become more restricted in the help she can give as my niece gets older and my mother can't lift her. Its our understanding that Angel's are very slow to walk and she may never be ambulatory. Put that along with being non-verbal and we definitely have some challenges ahead of us.

Just wondering about one thing right now. I know from reading that they make special needs strollers. For those with experience, does medical insurance typically cover these or is it something that we should be budgeting to purchase?

 

[happily single]

I'm glad to hear that you finally have some answers to your questions. Does your niece receive Medicare/Social Security? If her pedi writes a prescription for the stroller it may be covered. I was lucky enough to find a used stroller at a yard sale (but my ds was able to walk, I just needed it for sensory issues).

If its not covered by insurance I would try a local agency that handles special needs. I know that PARI (In RHode Island) has a supply of used items that are donated by people who outgrow them or no longer need them.

 

[SueM in MN]

Sorry to hear about your niece, but having a diagnosis is helpful.
When my youngest DD was little, the little girl next door to us was diagnosed with Angelman Syndrome.

In case you didn't find it yet, here is a very good reference:

Angelman Syndrome Foundation

Most insurance policies do cover wheelchairs and special needs strollers - the language in the policy they should be looking for is "durable medical equipment." Since she is over 3 and is not walking, it would be unusual for insurance to not cover something. But, you can never have too much proof of need for insurance companies.

As well as having a physician prescription, it's best to work with a seating specialist/team (this may include an Occupational Therapist or Physical Therapist). They would evaluate the child's needs and (most importantly) write up a justification of need that details why the child needs the equipment. This is especially important if she has any positioning needs or if the stroller/chair that best meets her needs is more expensive than some of the other options. The details in the write up will be very important for the insurance company.

They probably have already connected with their local school district, but just in case they have not, any child between the age of 3 and 21 years with a disability is eligible for evaluation by the school to see if they would be eligible for services (in her case, I can say that she for sure would be because a 3 yr old who is not walking or talking would be more than 12 months delayed in development).
Here's a resource for school/education:
www.pacer.org
PACER is located in Minnesota, but is a resource for the whole US.

Lots of hugs to them and to you, the godmother.
We moved away from the girl who lived next door to us, but when I last saw her about 7 years ago, she was a happy young woman, still not talking, but she was walking and most of the time had a smile on her face.

 

[PatsMom]

Thank you for all of the information. My brother has made contact with the local school system but somehow we know that struggles lay ahead there! My niece is scheduled to begin school in September, part time. This was prior to the diagnosis when she was just classified as developmentally delayed. So they expect the school district to re-evaluate her needs. We are all reading as much as we can about IEP's, etc. The link to PACER is great.

We have spoken with another parent of a severely disabled child who attends school in their district. That parent tells us that she had resistance because of the need for a full time aide. According to the information available on the Angelman Foundation web site, it is most likely that my niece will require a full time aide as well. But Angleman kids do learn to communicate to some extent - through sign, picture boards and some achieve very limited speech.

On the bright side, it is a relief to have a diagnosis. Now that we know she will always need care, we can plan accordingly. And most Angelman kids are exactly as Sue noted - very happy. Essentially she will be a very happy two year old in an adult body at some point. She is a doll and we all love her to death so the family has plenty of support and I think that will help.

I am going to suggest to my brother that they start with the doctor to see about a special needs stroller. She is a good sized kid and she is outgrowing the ancient stroller they are using now. Very difficult to get her in and out. And very hard to push. I was going to buy her a new one for her birthday but since this is going to be a long term need, I am going to suggest following Sue's great advice on making sure she gets what she needs for seating, etc.

 

[pmpdchef]

Your niece is so very blessed to have you as her Aunt first and foremost. Strong family support is so important to the child as well as to the parents. It is very evident that you truly care about their needs and about her future.

Our DD 12 was tested for Angelmans too several years ago. Though the test came back negative, her neurologist told us that in a couple of years, as they continually fine tune the tests, that she very well could show up as positive. She has many of the symptoms, so I know somewhat what you are experiencing.

If you would allow me to offer some advice as someone who has experienced what you are going through.....

1. Don't take the word of any of the medical experts who tell you what your niece won't do. Believe and work hard and never give up on her abilities. If I had believed mine, I would have a daughter in a wheelchair not talking at all, not potty-trained, etc. I don't. She walks, albeit with braces and sometimes needs help, talks enough that her friends at school can understand her, and was potty trained at 3.

2. Dealing with the school on IEP's and such stinks. Our daughter needed a 1-1 aid too. She did get one. Arm yourself with as much knowledge as you (and your brother) can. The more you know what her rights are and what they are required by law to provide, the more you can hold their feet to the fire when they start to tell you what they "can't do".

It is good that you at least have a diagnosis. Please know that there will be people thinking about you and your niece as you all begin this journey.

 

[PatsMom]

Thanks for the kind words and advice. We are a pretty close family - always into each others kids so raising my niece is kind of a group affair! Since I am better at dealing with money and bureaucracy, I will be helping out where I can. I also plan to stay pretty close to what is happening because if anything happens to my brother and his wife, I will be my niece's guardian.

We figure the syndrome is so little understood that no one really knows what each individual child might be capable of doing. According to the geneticist they saw last week, my niece's form of Angelman is fairly rare, less than 3% of this already obscure disease is from Paternal Uniparental Disomy - she has two paternal chromosome 15's and no maternal one. So we will take it day by day.