Subject: Re: Diagnosis
When Jennie was 10 years old, her classroom teacher lent out copies of Exceptional Parent magazine to parents. I borrowed one and read a letter in "Parent Search" column about a child that sounded exactly like Jennie. The mom was Diane Wilcox from California. I can't remember where I found the Angelman address and phone # (it may have been listed somewhere in the magazine), but I did and called Gainsville. I talked in length to Elaine Whidden. She sent me lots of info. and I then made an appointment with a pediatric geneticist at Milwaukee Childrens hospital. He did the high resolution, which came out-, but clinically diagnosed her. when I found out that I didn't cause this syndrome by having severe bronchitis and coughing so hard, or by having a few too many bloody marys, or by Jennie's cord being around her neck, etc. I can't describe how relieved I felt! For many years we blamed ourselves. Like Alice, I still wonder though, what causes the deletion!!! So for 10years, we felt so alone. Janice (Jennie 15, now +)
Subject: Re: A diagnosis at almost 13 y.o.!
Janis, Katie sounds so much like Jennie. Jennie is 15 and was diagnosed at 10. I know how happy you must be. One thing you mentioned that I haven't heard yet is the stringing beads. Jennie used to love doing that and also poking little fine sticks into buttons (I have a big canister of spare buttons). She loves poking things into things, even really small things. Jennie is an excellent swimmer also. She has been swimming independently for many years. All your other comments match up too! Janice Daley -Grafton, WI
Subject: Seattle
Janis,
I just noticed we are from the same area. Well sort of anyways. We live just north of Bellingham, Wa. We see Dr. Vlcek in Seattle he is a pediatric neurologist. It sounds like both girls were diagnosed around the same time. Coralynns Dr. always said she didn't quite fit the AS traits although we did. Then a couple of months ago we went to her sixth month check up with him and he said he thought she had AS. We then had a blood test done which proved she has Angelmans. Has she had the FISH test yet and if so How long did it take to get results? Coralynn had blood drawn for the FISH test about three weeks ago and we are yet to hear something. Patients is not one of my strong points.
Hope to meet your family someday. Corinne ( Mom to Coralynn age 51/2 yrs.)
Subject: Knew Something was Wrong
Hi Everyone, I knew something wasn't quite right with Devin when she was about 4 and half months old. In my enormous naivete, I thought it could be fixed. My first inclination was that Devin had really poor head control in comparsion to a neighbor's niece of the same age. I thought they could put a brace around her neck and "wa-la" things would be just fine. Ignorance really is bliss! Anyway, about a month later, after much first time mother panicking on my part, we saw a neurologist at Columbia Presbyterian who assured us it was no more than a "mild" developmental delay. (I'm sure he's eating those words today!) I have no hard feelings towards this doctor, I can fully appreciate how difficult it must be to diagnose AS in infancy. I still cringe when I think of myself telling this doctor about my neck brace theory and I think I even referred to mylen and mylar... What an impression I must have made!
Kelly
Subject: Re: Diagnosis
Me again. The latest incidence from the Johns Hopkins web site is listed now at 1:20,000 births. Deanna
Do you realize how many undiagnosed angels are out there? In my brief, al;beit jam packed, volunteer work in the sovial work field thus far, I have educated three professionals about AS. My own therapist who works a lot with diabled kids now understands it and can look for it, and Randy Martin, head of sibling services at AHRC and Cynthia Frankel the cheif psychologist at AHRC are reading about it, thanks to my prescene on the sibling comittee their. They are both very interested and have asked me for back issues of newsletters etc. It is exciting to know that we are slowly teaching the professional about htis syndrome so that maybe more angels will be diagnosed earlier. My sister was almost 17 before we got a diagnosis! I'll get off my soapbox now...;-)
Julie Hyman
Subject: Re: Diagnosis
Julie, Oh how true! I've only met two professionals who had even heard of Angelman Syndrome -- one was a geneticist who, though badly misinformed, had too large of an ego to believe he was wrong about it and who discouraged us from pursuing an AS diagnosis -- and the other is our pediatrician who actually did his residency at the University of Florida and worked with Dr. Williams.
We've been educating professionals since Emily was diagnosed about four years ago. We keep extra copies of "Facts About Angelman" on hand to give to new professionals working with Emily. Like many other parents, we read about AS in Exceptional Parent magazine which led to our being discouraged by the geneticist at UK, but we still contacted the Angelman Research Group in Florida and they diagnosed her. (Some of the ego-manaical doctors whom WE have introduced to AS now mispronounce it with a hard "g"!!!! I smugly tell them I've met Dr. Angelman and he pronounces his name with a soft "g". I can be rotten sometimes!)
Marianne (mom to Emily, 6, +)
Subject: Re: Diagnosis
O how true! I recently became the SE regional representative because I have a passion to see more kids diagnosed at an earlier age. I know how much it heldped us to get at diagnosis at 18 months. If the rate is 1/20,000, there's a lot of work to be done in S. Florida as there are only four AS kids that we know about in that metro area. There's only one or two diagnosed in the whole states of AL and SC.
While on vacation to PA, my family stopped at a mall in Columbia, SC. I was walking down the hall in the mall and I looked over and saw a boy in a wheelchair being pushed by his mom. There was little doubt in my mind that he had AS. I approached them and the lady said that her 17 year old son had been diagnosed with CP and just about a year ago she heard of AS from a TV talk show, but her doctors knew nothing about it. We had a long talk as I described AS (and her son matched to a "T").
Kevin Ditamore
Subject: Re: AS & CP
A few weeks ago my wife's boss spent his holidays in Spain. At the beach he saw a German couple with a handicapped litlle girl, some eight years old. He walked up to them and asked if the little girl had A.S. They said she did indeed have a.s. and suspected he was a medical professional until he explained our case to them. We had given him a handout by the Dutch "ASF" and he was able to spot an a.s. child on a crowded beach. We pass out copies of this handout to anyone concerned about Liselotte, partly because it saves us the trouble of explaining everything in detail and partly because it leaves us secure in knowing that we tell people the complete story. It is a nice thought that my wife's boss and others who we have given the handout to may one day spot an a.s. child who has not been diagnosed as such, and relieve the lives of the parents and the child as well. Frank van Hof, father of Liselotte, 10 months, del+.
Subject: FISH Test Results
Hi, yesterday I got ahold of Coralynns nuerologist in Seattle and asked his nurse if her FISH test was in yet and is Coralynn Del + or Del - . Dr. Vlceks nurse Sally left me a message on my recorder that the dr. is confirming that she is indeed Del +. I felt like I should be very excited but I wasn't. So I called her local pediatrition to see if he had gotten any test results yet and while waiting for him to find out I again left a message with her neurologist asking if the FISH test was in or if the Dr. was getting the Del + answer from a previous blood test. Coralynns pediatrition then called and said the FISH test was in and then he said he would have to call Childrens hospital to find out what that meant and would call back. By now I am really confused. So then, today I still had not heard from either one so I called her pediatrition and he said he personally talked with Dr. Vlcek last night and YES she is Del +, and that there was a very high resolution found. I then said "yes, we can have normal children." He said NO according to Dr. Vlcek last night on the phone all of our children will be Angelman or at least it is very likely. So now I am more confused than ever, so if someone can please help me figure this all out I would greatly appreciate it.
Corinne -mom to Coralynn 51/2 AS Del still unknown.
Subject: Re: FISH Test Results
Hi Corinne,
Here are, very briefly, and taken from my earlier messages, some answers to your recent questions. The "Facts about AS" paper is an older version of the article, "Angelman Syndrome", which has already been published in a scientific journal, Current Problems in Pediatrics. The ASF will send you a copy as well as some other material - write to: Angelman Syndrome Foundation Post Office Box 12437 Gainesville, Florida 32604
Both boys and girls may be affected by AS, in roughly equal proportions. Children get the chromosome #15 from both parents. If a piece is deleted from the paternally derived chromosome, the child will have Prader-Willi syndrome (which is quite different from AS), but if the deletion is in the maternally derived chromosome, the child will have Angelman syndrome. In ca. 70 % of all cases there is a large (non-inherited) deletion, however it appears that Coralynn doesn't belong to this category. The remaining possibilities are UPD and various types of microdeletions and other mutations, some of which may be detected in more advanced tests.
If, as you say, the FISH test showed a very high resolution deletion, then it must be a microdeletion and not a large one. (It has become a common practice to label large deletions del+, but how should we denote microdeletions ?) It would be quite illuminating to know the exact size and location of Coralynn's deletion.
Now, it so happens that, with a microdeletion, there are quite many familial cases: the mutation may be latent in male members of the family, but only female members can have AS children. If you are indeed a carrier, then each child you give birth to would have a 50 % probability of having AS. I'm sure that Dr. Vlcek had meant something like this, but he got misinterpreted by your pediatrician. Still, I wonder how he could say this, if they haven't examined your chromosome 15 - did you already send your own blood sample ? So, it is possible that your father (and grandfather etc.) already had the mutation. This is most certainly no one's fault, and you couldn't have known about it, so you shouldn't put the blame on anybody. I'm very sorry to say this, but I don't know how it could be made sure that your next child is normal.
Finally, here is the part of my earlier messages which made me send them privately. Sorry - others may not find this interesting, or even wholly intelligible ! It was really nice to hear that you have your roots in Finland. Honkala is a Finnish surname and means something like "a place where pines grow". I wonder if it is a pure coincidence that Glader (or, rather, glade) is not very far from it. Do you happen to know which part of Finland they came from ? I guess you don't speak any Finnish, nor have you ever visited Finland.
With Best Regards
Heikki Taimio, dad to Liisa (6, del-) Finland
Subject: Re: FISH Test Results
Coralynn,
Ditto Deanna on this...the geneticist we saw at UK is grossly misinformed about AS and too arrogant to change his erroneous thinking!
I would like to make a suggestion to you...I wonder if you could contact Dr. Charles Williams at the University of Florida who is an undisputed expert on Angelman Syndrome. Ask him to contact your doctors and review the results of the FISH test and interpret them for you. From everything I've ever read or heard about AS, a deletion positive result means your likelihood of having another AS child is between 1 and 5 percent -- the same as the general population. That was the information we were given after a methylation test showed Emily's deletion -- that was the go ahead we needed to have another child, which we did, and who is normal. Good luck.
Marianne (mom to Emily, 6, del+)
Subject: FISH Test
I finally got a copy of the FISH test maybe someone knows what it says:
Specimen description: peripheral blood
Inducation: Positive methylation result for angelman syndrome R/O deletion vs. uniparental disomy of chromosome 15
Diagnoses: A DELETION was detected in the Prader-willi/angelman syndrome region of one homologue of chromosome 15 using FISH.
Fluorescence in situ hybridization ( FISH ) using the oncor probe for the SNRPN ( cat.#p5152.DG.5 ) and D15510 ( cat. #p5153. DG.5 ) Prader- willi/angelman syndrome region showed the absence of fluorescent signal from one homologue of chromosome 15 in 20 of 20 metaphase cells analyzed. The lack of fluorescent signal indicates a deletion of chromosome 15 in the q11.2-q13 region and is consistent with the diagnoses of angelman syndrome. (NOTE: the use of theis DNA probe is recommended for research purposes only and information deprived from this study should be used in conjunction with classical cytogenetic analysis and/or clinical information.) A routine chromosome karyotype was not requested for this study. END OF REPORT
So now maybe someone knows what is this saying?
Thanks Corinne
Subject: Re: FISH Test
Fluorescence in situ hybridization ( FISH ) using the oncor probe for the >SNRPN ( cat.#p5152.DG.5 ) and D15510 ( cat. #p5153. DG.5 ) Prader- willi/angelman syndrome region showed the absence of fluorescent signal from one homologue of chromosome 15 in 20 of 20 metaphase cells analyzed. The lack of fluorescent signal indicates a deletion of chromosome 15 in the q11.2-q13 region and is consistent with the diagnoses of angelman syndrome.
Deletion + for AS. Pretty much word for word the results we received on our daughter. They analyzed 20 cells and all cells showed the deletion. The deletion is recognized because the "probe gene" that normally absorbs the dye in that region is absent.
Kevin Ditamore
Subject: Re: FISH Test
Sounds like your child is deletion positive- by means of the fish test.I think that's just one way of looking at the chromosomes- doesn't it mean fluorescence some thing or other??? Cindy Spicka (mom to Bobby deletion negative.)
Subject: Diagnosis
Hi Everyone,
Over the past few months I have been posting about my daughter Devin, and a possible AS diagnosis. As I mentioned Devin is somewhat atypical; she does not have a sleep disorder, seizures, abnormal eeg, mouthing behaviour, hyperactivity, etc. About a month ago I sent a video of Devin to Dr. Williams. This past week I received word back from him. Williams said after reading Devin's history and viewing pictures of her that he was pretty sure that she didn't have AS. However, he said when he watched the video and saw Devin's movements (hand flapping, arm/hand posturing) and then considered her global delay and absence of speech, he felt she probably has AS. He said that he has not seen many children like Devin, and although he could not say with absolute certainty that she definitely has AS, he felt her movement was compelling enough to warrant a clinical diagnosis. Williams also commented on deletion- vs. deletion +. He said in his experience he has not seen a clear difference in abilities. However, he said that he has seen children who were deletion - who are higher functioning, but that this in not the rule. Based upon what he saw of Devin he felt she might fall into the higher functioning category. I'm not sure I agree, but it's the first glimmer of hope I've had in a long time. (He maintained that children with UPD are usually milder than both del- and del +.) We also talked about the 50% reoccurence risk for parents of deletion -, normal genetic studies, AS children. Williams said he feels this number is exaggerated. In my case he said b/c there is no history of mental retardation in my family that the risk is probably somewhere around 25%. He also said that he fully expects the AS gene (or genes) to be identified within 6 months. He said there are currently 4 highly competitive labs (US) in hot pursuit of this gene and that they are getting closer everyday. Once the gene is mapped it will enable new testing procedures to be developed thereby shedding light on the mystery of the deletion-, normal genetic studies AS child. Definitely something I'm sure we're all looking forward to. (Doesn't it seem like this damn little gene controls everything!!) Just thought you'd want to know how this all turned out. Oddly, I don't feel sad or upset about the diagnosis. Thanks for allowing me to eavesdrop. I think this list is largely responsible for making what seemed like "my worst nightmare" turn-out to be not so bad afterall...
Warm regards,
Kelly
PS: Janis, I read your post about Katie to my family last night. You have given us all so much to look forward to with Devin. Thank you, thank you for sharing your story with us!