Rebekah'sDiary
Our daughter Rebekah was given the diagnosis of Autism/PDD at the age of 3.We received this diagnosis after several and difficult tests. Rebekah alsoignored us, as if she were deaf. So she underwent a hearing test to see ifthere might be any problems with her hearing. We have read and heard from otherparents with autistic children that their hearing seems to almost always be thefirst "culprit " of your child not wanting to respond to you. We weretold that she was hearing sounds, but how it was registering with her brain wasunknown.
My wife and I were, at first, referred to acouple of developmental pediatricians, but unfortunately at that time ourmedical insurance wouldn't cover them. So our daughter was seen by a team ofpsychologists, speech therapists, occupational therapists and a few otherpeople who evaluated her, which was through the school system. After theirconferring with each other about their findings it was then, when we were giventhe diagnosis of Autism/PDD for Rebekah. Eventually the company, where I work,changed medical plans. This change in plans allowed for well baby care, whichwe believe might have helped earlier on in her infancy, for the detection ofthis sooner. Fortunately though, we now were able to take her to a neurologistand have more thorough testing performed.
As it stands now Rebekah is 6 yearsold. She is attending school in a moderate/severe program. The teachers, speechand occupational therapists are pleased with her progress so far. She still hasno speech and still needs help with toilet training, but Rebekah has come alongway and is more open to people than before. She is becoming more communicativethough. Sometimes it is in destructive ways, such as throwing things,pinching, hitting and biting even screaming which is of course not desirable.Although it has pressed us into trying to find out what she wants, or needs,instead of trying to make her stop all the time. You can eventually tell thedifference between a tantrum or an expression of a need.
We have been taking Rebekah to a developmentalpediatrician for a couple of months now, whom has come highly recommended fordevelopmental disorders. The doctor noticed that the only tests that we havenot tried so far were for metabolic screening. She did have some screenings asan infant, but these are limited ones performed on all newborns. So with thatsaid, the doctor had a more complete screening ordered up. We got the resultsback in about a week. It turns out that we may be looking at a new disorderthat is the cause of her behavior. A metabolic dysfunction called
5-98
Well, just when you think you have the answers to whatis going on with your child, it changes. We had a spinal tap performed on ourdaughter to check out her glycine levels (glycine is an amino acid,) because webelieved that after having 2 blood and urine tests she had non-ketotichyperglycinemia. The first test was done while Rebekah was on Valproic Acid(Depakote,) which can raise the levels of glycine (only trace amounts werefound of valproic acid). A second test was done nearly 3 weeks later, whichstill showed high levels of glycine and alanine. So to further confirm thediagnosis, and to see if the levels of glycine were elevated in her spinalfluid, we had the spinal tap performed. Also a blood sample was taken tocompare against the spinal tap, in which we just recently found out that bothcame back normal. Also to further put things at square one, the neurologistbelieves that our daughter is not autistic at all and that her problem ismetabolic. The developmental pediatrician also concurs with this, and is readyto get to the testing started. Our faith in God is all we have to get usthrough all this and we know that his best interests are ours to.
6-98
My wife and I sure have had a trying month. We firedour geneticist who was so adamant about the non-ketotic hyperglycinemia beforewe did the spinal tap which would have made the final diagnosis. Now becausethe results came back normal he says that Rebekah's problem is only abehavioral disorder with autism and that her (what my wife and I called spellsa week later to be finally diagnosed by the neurologist to be seizures which wepretty much knew it would be) spells are not seizures but just a behavioraldisorder. My poor wife being the one to take our daughter in to see him was ofcourse played as the overwrought mother. He was very patronizing to Dyan. Thegeneticist did call our developmental pediatrician to get her backing with himon his diagnosis and that any more metabolic tests would not be necessary. I amglad that she did not buy that diagnosis at all and told him to run more testsfor her which he finally gave in and did but not without displeasure about it.If possible it would be a good thing for someone to go with you to your firstand second visits to a new doctor for some support, (Dads, neighbors,friends or family members). So you at least would have someone to back you upif you get a patronizing doctor.
I am so glad that we have a good developmental pediatricianwho stuck up for us on that call. She agrees and even told us that that doctoris out of the picture. The neurologist appointment a week later was great andshe was able to diagnose the seizures and get Rebekah on medication for them.One thing though that both the developmental pediatrician and neurologist arelooking at also is a possible diagnosis of Rett Syndrome but want to becautious about that until the metabolic tests come back in.
Please do not give up hope for your child especially whenyou run into doctors who want to jump at conclusions before all tests are doneand then to "save face" and let pride stand in their way try to comeup with a diagnosis that YOU KNOW is not at all right, or just cannot admit toa mistake and go on with other tests and get to the bottom of what is wrongwith your child. Do not let doctors intimidate you because without you theylose money, they are their for YOU and not the other way around.
6-98
All metabolic tests are in and all show negative results. Amen for this. Nowthe neurologist and developmental pediatrician have called today and bothconcur for Rett syndrome we just pray that this is the final diagnosis. My wifeand I have an appointment with the pediatrician for further explanation of thisdiagnosis. We will update this page with this new information as soon as moreis known about this new diagnosis for our daughter.
8-98
We got the final diagnosis of Rett Syndrome about three weeks ago now. Weare just trying to soak all this in. My wife contacted the International RettSyndrome Association and we received an excellent package of information fromthem. Also we have seen a pediatric cardio pulmonologist for herhyperventilation breathing and her apnea (holding breath) while she is awake.He has ordered a sleep study on Rebekah to see how she is at night with herbreathing. Not much more to really say now. After so many years of believingRebekah to be autistic and now starting over with a new diagnosis we are justtrying to soak all of it in ourselves.
9-98
Just got in the results of a sleep study that we had done for Rebekah andthe results are showing no problems. Still having a hard time getting herseizures under control though, but Bekah is a trooper through it all. Pleasecheck out the International Rett SyndromeAssociation Homepage it really has some good information.
January 1999
Happy New Year!! Sorry to not have updated this page in so long. Rebekah isscheduled to see the pulmonologist next month for a routine checkup. We havehad to change her seizure medication also they are still hard to get undercontrol. She is also not eating very much we have had to try to get ensure plusin her she is losing a lot of weight. The developmental pediatrician is alreadytalking about the possibility of have to have Rebekah fitted with a feedingtube if she continues this way. It is a hard thing to consider but she can'tstarve either. We have gotten Rebekah a wheelchair because she gets tiredquickly now and doesn't like to be in big crowds but the wheelchair has seemedto given her a lot of comfort and security she sometimes fights to stay in itwhen we get back to the car.
September 1999
For all out there who continue to check back to this site for any updatedinformation we are still here. I have just let time slip by on updating thispage. We have had a few things change with Rebekah in the last few months sincethe last update. She is now on a new seizure medication of Dilantin and Topamaxwhich have really helped improve her seizure activity and gotten it pretty muchin control. But she has for the last 5 or so months started a new thing whichlooks like a seizure but she seems to have some control over her body everytime we try to help her thru it she just pushes us away and continues. Sheshakes a little and rocks, drools and seems like she wants to continue but whenit is finally over she is very irritated and upset. Bekah also is having moretroubles controlling her hands it seems to come and go for the most part shecan use her hands to eat and grasp but is clenching and holding them moreoften.
October 16
We have just received the news that the Rett gene has been found. But thereis still plenty of work ahead for these men and women as they are still mappingthe gene for all of the defects since every girl could have a differentvariation of mutation. But the GREAT NEWS IS THAT THE GENE HAS BEENDISCOVERED!!!!! Our prayers go to all in our Rett families as we findout more news of this discovery. Please visit the IRSA link below for thecomplete articles.
January 2000
WOW! Where did the year go it is hard to believe a new one has begun. WellHappy New Year to all who visit our site. Now down to business. We had a checkup for Rebekah with her dev. pediatrician near the end of last year. One of thethings we showed her was that Rebekah's left foot appeared smaller than herright. The pediatrician suggested that we see a pediatric orthopedist whichupon following up with that she has a tight heel cord. She has been fitted withand now wears AFO's (Ankle-Foot-Orthotics). She is doing really well wearingthem hopefully we can get her heel cords to loosen up some.
Also the visit with the dev. pediatrician brought up that it was time foranother sleep study (AUGH.) Not that it is bad but at Rebekah’s last sleepstudy she took forever to get to sleep and fought everything. This time she wasgreat she went right to sleep. But the people running the sleep study had tokeep waking her up because her oxygen levels were going into the low 80's (verybad) and she also stopped breathing during this time for up to 1and a halfminutes at a time. It was a very stressful time on us seeing this happen toher. But the staff was awesome and kept a very close eye on her. They also hadto put her on oxygen and it picked her levels right back up. We knew Rebekahhad periods of apnea during the day but did not know that at night it was thisbad. Even the staff was very nervous. Plus she also showed a bizarre sleeppattern.
The recommendation from all this was that we needed to begin home oxygen useat night. This has not been easy in getting a routine on but we are gettingthere with her wearing the nose piece (She won't tolerate a mask on her face.)But since starting her oxygen levels are staying up in the high 90's and she isgetting up in a better mood and her seizure activity has improved some also. Wehave learned we have to wait until she is fast asleep before we can putanything on her (usually about an hour after she falls asleep) otherwise shewill not go to sleep.
Rebekah is doing well in school this year she enjoys it very much. She alsojoined in the Special Olympics activities workshop which was great. Well Iguess this about covers the last couple of months and what a full couple ofmonths they have been.
Wow! What a fast year this has been. When last I wrote we had Bekah onoxygen, we had to take her off of it. She got to the point of not tolerating iton her any more. Every time we tried to put the nose cannula on her, she wouldwake up, and not get back to sleep until we took it back off. This has been ahard decision to take her off the oxygen but, her pulmonologist agrees it willbe the best to do. Also, she is having some new AFO's made up the others aregetting to small for her now. Her seizures are still occurring even with themedicines she takes. Rebekah is doing fine in school as always :). She reallyloves being in school. Other than this not much else is going on now we alljust try and take it a day at a time.
February 2004
Yikes!! Where has the time gone to?
Bekah’s walking has been harder for her too. We have had to purchase a stroller for her.
Sometests that we do recommend are:
Hearing tests
ENG: Test the brain waves
MRI: To test for possible abnormalities
DNA: For any possible genetic abnormalities and metabolic testing.
At least by doing these tests you can hopefully rule out other underlyingproblems.
Also try applying your child for social security to help for any expenses thatyour medical insurance won’t cover and if you are denied go to your localfamily service office and apply for the
You can reachWade by e-mail at: wade@rettangel.com
Or Dyan at: