Hello Lizette and Sean,
I am sorry to hear that Aliyah had to be admitted. I can completely feel your anguish. I know that you have been great advocates for Aliyah and knew that something was not right from the get go.
I have now looked at all her notes in the electronic chart.
I have yet to see recent labs that may have been done in child serve.
I am still catching up with all the backlog emails etc but decided to write to you so you know what I am thinking.
Your appointment with me is not till the 19th August and I decided to write so we can get organized on what needs to be done.
This is a LONG e email but you will ne able to review it- AND WE CAN STILL TALK LATER- instead of me talking to you FIRST and then you feeling overwhelmed with extra information
Re diagnosis:
1. Aliyah had hypsarrhythmia initially and then modified hypsarrhythmia in f/u. she has drops/ continued myoclonic seizures. In infancy these are called infantile spasms and later are also called epileptic spasms- a type of myoclonic seizure. Thus the terms are used as a continuum.
2. I had also spoken to you about admitting her and starting from scratch at the last visit- with doing a lumbar puncture etc as some of the initial tests were screening tests done in DesMoines.
3. At the last clinic visit, I sent off blood tests for the Rett syndrome and SCN1A. The Rett syndrome test is negative but the SCN1A is still pending…
4. I was hoping that I could tie in some of the additional genetic testing after I had received these test results back- however as Aliyah got worse, you were already admitted before we could coordinate the tests.
5. Regarding your friend’s suggestions, for the patients with GEFS+, there is a strong family history of fever related seizures and also the initial presentation of the child is fever related seizures.
6. For the “ female version” of the SCN1A I think the friend is referring to a condition for PCDH19. Again patients with this condition present with a lot of fever related seizures- not something that Aliyah has done.
7. However, I am not averse to closing the doors on any possibility- but when the tests are very expensive- with a chance of you having to bear some costs, I wish to start with the best fit and then move from there.
8. If Aliyah has a genetic cause for epilepsy, the chance of a “cure” is small as it is not possible to alter genes. Thus if we do the tests in a step wise fashion although you may wait upto 3 weeks for each test, please do not feel that you are wasting precious time in terms of treatment.
9. Considering the fact that Aliyah can have a genetic cause for her seizures, I have purposefully avoided discussing with you some medications that can worsen such seizure types (Dilantin, Tegretol etc).
I am aware that this (GENETIC PROBLEM) is possible for Alyah and will continue to check her as you also have a little one at home.
10. In upto 70% of patients with infantile spasms a cause can be found. I am more interested in testing her for a cause that is treatable by medication immediately. So I would propose testing her with lumbar puncture first as the tests to be done on the spinal fluid can not be done on blood and if there is a chemical abnormality in her fluid (this is a different issue from the genetic test), we can try to correct it.
I am very open to discuss Aliyha’s case with your friend’s epilepsy doctor- with your permission- so we can brain storm together to get Aliyah better- if you think this is what needs to be done.
Re EEG:
I am going to order an EEG for Aliyah and we can also do the LP during the admission for the EEG. If the EEG shows that the drops are coming from ONE focus, I shall order additional tests ( called PET scan)
Charuta Joshi MBBS, FRCPC
Clinical Associate Professor
Division of Pediatric Neurology
2506 JCP, UIHC
200 Hawkins Drive
Iowa City 52242
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