Subject: Diagnosis

I carried a list of possible reasons for Katie's disability for 12 years. Actually a genetic syndrome was not something I had not given too much credibility! Katie's doctor told me Katie could have had some kind of infection while I was pregnant. (To me this meant I gave it to her.) My husband is a fishermen and boat builder so I often wondered if it was his working with nasty chemicals like fiberglass that wreaked havoc with his sperm. Katie had terrible diapar rash right after she was born, so I felt this must have been part of some awful infection that caused her problems. Maybe it was her dtp shot. And so on... I guess that is why it was a "relief" to get a diagnosis. I shed many a tear over the years, especially in the early years, slowly coming to some kind of terms with Katie's disabilities before her diagnosis last June.

Janis Katie (13, del+) ----------

Subject: Re: diagnosis

Denise, You seem to always start my tears. Everything you said, we felt. It's true that at first the diagnosis is devastating - but when you look at that little face (when it's not in trouble!) you know that it is the same little face that you have loved since birth and that she didn't change with the diagnosis. It takes a while to digest all of the info but we decided to live in the present and that has helped. Thanks for your insightful letters! Robbin

Subject: 4. Re: Diagnoses and Appearances

In a message dated 96-12-04 14:23:40 EST, you write:

<< I feel that not having a diagnosis probably helped Katie especially in her early years. She looked pretty normal and we felt she simply had a form of cerebral palsy. >>

Hi all,

A couple of thoughts on the above. In looking back to when we were first told about Katie's diagnosis, I remember feeling more devastated by the "non-development of speech" than the "severe to profound retardation" labels. I think, at that time, I truly equated the lack of speech with the mental picture I had of some '"vegetative" type of persons I had cared for in my nursing past. It painted such a hopeless picture. Of course we all know how untrue that picture is! BUT, if I, as a parent felt that way, what must others have thought (and still think)?????, when that diagnostic picture was painted for them! (The professionals: docs, therapists, teachers, etc.) The other thing I wanted to comment on was that even though many of us give "progress reports" or report new achievements here, we should all be careful not to assume that the achievement is totally mastered or used every day by the child in question-we all know how our Angels can do things intermittantly! Besides, it's just not fair to compare any one person to another. I believe that what we report here is done in the spirit of saying, "Look and see what these children MAY be capable of!", and meant as encouragement. 0:) Deanna

Subject: Diagnosis

You are absolutely right. Felicity's diagnosis at age 7 came as a relief to me. My hopes for Felicity had trickled away slowly over the years. Then when we got the diagnosis and read the literature,but most importantly, met other, older AS children it seemed like we had been given new hope.That hope has been realised, and Felicity has made such progress as I could not have imagined then. And this progress will go on. On the other hand, if I had been told when she was 2 or 3, I would have had to face the hard facts far sooner than I could have coped with. As it was, we grieved slowly over several years, gradually learning and accepting that Felicity had her limitations. When we were given the diagnosis the most painful parts were over, and it made no difference to the child she was then. Even if she had never been diagnosed as AS, she would still have made this progress and delighted us with it. I don't know where I am going with this, but I hope it makes some sense. Barbara

Subject: diagnosis

As I am readying myself to write our traditional Christmas letter, I remember last's years, where we "shared" with our world of friends and relatives Larisa's diagnosis.

And I wanted to put a point of view that I've seen little of as part of the diagnosis subject, but some as part of this whole discussion re: del+ or -.

Most of the letters I see regarding diagnosis are from families that have been 7+ years without one, and welcome the diagnosis. However, more and more, our children are getting diagnosed as infants and young toddlers. At this age the diagnosis can be terribly depressing: mainly because of the "lack of speech" and "severe mental retardation" labels in the literature.

I remember last year been devastated by the diagnosis, because although I knew Larisa was "delayed" I carried some hope that it was mainly just that--and that she would be "fine" after a while. I even remember telling a friend: <I know when she is five and she enters kindergarden I will wonder why I cried so much>.

Well, those labels in the literature can really put a damper on that parade. Israel, who for months refused to read anything that said Larisa would not accomplish this or that, was a lot stronger, and took the diagnosis as if they had said Larisa had not a cold, but a runny nose. Meaning: nothing new.

What I just wanted to say is that there must be a lot of parents out there that are just getting the diagnosis and cannot relate to the feelings many other parents have expressed in the "diagnosis" part of web page.

To those: you cry, you wonder why, you despair. Then you look at that child, you notice it is exactly the same gorgeous little person he/she was the day before, you pull yourself together, and you enjoy him/her as much. Then the diagnosis helps: you read, you understand, you forget about the guilt (if there was any) of thinking that you caused this yourself. And finally, you join this chat group, which really opens your eyes about the things that that child can really accomplish, and the joys and hardships that come with raising him/her. And like another friend told me: you take life one day at a time, because that is all we really have. Who tells anyone that their perfect, normal, healthy child will remain that way forever? Everyone's children are only to enjoy one day at a time...because we don't control the future. And then your cute little angel will drool all over your hair and giggle and hug and you know you are better off than many other people who will never experience the joy of that perfect minute in time...

Denise

Subject: 9. Re: diagnosis

Denise,

I think I can relate to how you first felt after getting an early diagnosis. I first read about AS when Emily was 18 months old and undiagnosed. I thought she was so similar to AS, so I called the genetics clinic at the Univ. of FLorida. When they told me more about the syndrome, I became thoroughly depressed. I was so relieved when our geneticist ruled it out (mistakenly, we later learned -- of course). Anyway, she was 3 when we finally learned she did have AS afterall, and by then, we were relieved because we already knew by then that her disability was pretty severe, at least in a functional way, and we desparately wanted information about recurrence risks because we wanted another child. I do think your perspective is important to hear since AS is often getting diagnosed at an earlier age now.

Marianne (Emily,7,ASdel+;Elizabeth,2)

Subject: Re: diagnosis

Dear Denise,

I liked your letter about feelings towards the AS-diagnosis. We got our diagnosis when Mattijs was 15 months old (he's 18 month's now), and it was a big shock. Still it also brought some rest to my mind (finally), knowing what was wrong. It stopped me trying to ignore things. I remember how I hated the tests that had to be done, because I knew that slowly they would reveal the truth ( a bad truth). I don't know if an early diagnosis is an advantage. As others have stated here, as soon as the labels are there ('severe mentally retarded') the medical world starts to treat them like that. On the other hand, all those years of not knowing what's wrong with your kid...? I'm trying to see Mattijs as the kid he is today, not too much worrying about the future. He's very cute, very happy, sleeps well most nights, no seizures yet, sitting independently for half a second, but doesn't want to drink lately . To me this list has been the most important help so far. Because of this list the 'lack-of-speech' part became less bothering to me because I see how all these kids do communicate, and thats what counts, they DO communicate. Mattijs' twin brother Robin, is brabbling along all day, but there only a few words I can really 'count' as words that I recognize. Still I know what he means almost all the time, and I also see that he understands everything I say. So if this is what it will be like with Mattijs, to me that's good enough.

Best wishes, Lisette (Mattijs 18 m, Robin 18 m, Gydo 3.5 y) Netherlands, Weesp (under Amsterdam)

Subject: Diagnosis

Dear Barbara,

Similar to your experience with getting the diagnosis for Felicity, when we got our AS diagnosis for Ben (at 3) we breathed a sigh of relief...we had already been through the worst part, which I think is the first time you find out something is not "right" with your child. Early on, at 6 months we kind of got Ben's diagnosis in painful stages -- first it was CP, but "most probably he has normal intelligence as those with ataxic CP often do," then at 1 year I was told by a neurologist he was "severely retarded." Then came the seizure disorder, kidney problems, and I could go on and on. When we received the AS diagnosis the best thing about it was the support and understanding from other parents who really knew what it was like. I think whenever you receive the diagnosis this is the key benefit. Denise, I really liked what you wrote about getting the diagnosis. I know every morning when I get my bear hug and smile from Ben I think "it just doesn't get any better than this." Best wishes,

Jeanne, mom to Ben, AS, 9, and Alex, 13 [seltzerfam@aol.com]

Subject: Re: diagnosis

I can honestly say I understand both sides of the diagnosis coin. When Daniel was 15 months old, we did a muscle biopsy to look for rare muscular disorders. Genica Labs in Massachusetts performed the actual testing. We were told he had a carnitine deficiency, and a midochondrial myopathy category II, and was myelin delayed (MRI did that). Generally speaking, midochondrial disorders in the category I are terminal. So, I was grateful Daniel was not projected to die in the near future. But, things still didn't add up to me. His lack of speech was attributed to his low muscle tone, as was his lack of motor development. His therapists shared that in many instances speech did not develop very rapidly until the child could walk. So I waited until Daniel, with intensive physical therapy, walked at 39 months. Still no speech. This misdiagnosis led me to many lovely people who started organizations on behalf of their child. I had read an article about Dr. Salvadore Demauro, who under grants from the Muscular Dystrophy Association, had performed ground breaking research on mydochondrial disorders. After being informed by NIH that no research was currently being conducted, and by Emory Hospital in Atlanta that they didn't talk to parents (have your specialist call ours) I was desperate. He had even been seen by the top geneticist at Georgetown University Hospital (without DNA testing). When all else fails, go for the gold. I called Dr. Demauro in his reseach lab at Columbia Hospital in New York City and asked for help. Long story short, Daniel was seen by Dr. Demauro and Dr. Daryl Devivo (the other world authority) and they immediately suspected Angelman Syndrome. I had seen the words in Exceptional Parent, but knew nothing about it. They did another muscle biopsy, spinal tap, MRI and skin biopsy, all predicated on the previous diagnosis. Well, Daniel didn't have any of the aforementioned conditions, except possibly a carnitine deficiency. Amazingly, his brain had fully mylinated and was age appropriate. I was on the phone to the Angelman Foundation when Dr. Devivo called to confirm that Daniel tested positive for Angelmans. Then came the labels. But Daniel is the neatest little kid. He's happy, and responsive and truly a blessing (not that my nerves don't go on a regular basis). But this list has been a blessing also. Sometimes I can't believe that you all actually live with a child like Daniel. I'm not alone.

Thank you,

Cindy Scutt Springfield, VA, USA