a few questions

[Ellen McDonough]

Hi
I have some questions.
I am almost weaned off of Cyclosporin now -[25mg twice/day]total-50mg. It has been since July 2009 since I recieved horse ATG for my SAA. I have counts done 1 /month.My counts this month were incredibly GREAT!!!! WBC-3.2 Hgb-13.8 and platelets 120.Platests have NEVER been close to that high as I usually run in the 80"s-90"s. We recently started up the taper again since holding steady from last spring. Is it possible to have improved counts when weaning Cyclosporin? It doesn't make sense. If almost 4 years out from ATG treatment is it still kicking in?
I also found out recently that I have a 1p36 chromosomal deletion and my son has the same 1p36 deletion. He is being followed by a pediatric geneticist. I am awaiting to see genetics clinic.
I just wonder my BMB aspirates are also normal when tested for chomosomal abnormailites.But am wondering about some genetic mutation in my family since my son has the same deletion.My siblings refuse to be tested .Sister has multiple sclerosis and currently a 6 cm mass in her brain being worked up. I am trying to convince my mom to have genetic testing done.
Are there other SAA survivors with genetic deletions out there?I just wonder if it might be a cause in my disease? I have been tempted to email this Dr at Cleveland Clinic -Dr Jaroslaw Maciejewski.Anyone had any contact with him?
Thanks and i would love to hear from you.
Ellen McDonough

[triumphe64]

I see him twice a year. He is very friendly and helpful.

[Ruth Cuadra]

Ellen,

It's great that your counts seem to be going up even as you taper off Cyclosporin. It makes sense that they would, because your marrow is less suppressed with a lower dose. Still, it can be nerve-wracking to remove a medication that has helped you do so well since your ATG treatment. The conventional wisdom about tapering Cyclosporin is to do it very slowly--even taking 6 months to a year to get off the remaining 50 mg/day would not be unheard of.

How did you find out about your 1p36 chromosomal deletion? Was it through a followup bone marrow biopsy for your SAA? There is a known syndrome related to this deletion (see http://en.wikipedia.org/wiki/1p36_deletion_syndrome) but it does not seem to have bone marrow failure as one of its symptoms. I can understand wanting to know if there is familial connection by having your mother tested. However, assuming she a woman well into her 70s, what would you hope to gain by knowing if she has the same mutation? If her health is currently unaffected, the results of genetic testing could adversely affect her sense of well-being and cause needless worry since it's unlikely that anything proactive could (or should) be done.

I've met and worked with Dr. Maciejewski through the AA&MDSIF. He is involved in research related to bone marrow failure diseases and would, I'm sure, respond to your questions about a possible link between 1p36 and SAA.

Regards,
Ruth

[Ellen McDonough]

Hi Ruth,
Thank you for answering.
My son aged 12 was born very premie and has had learning /developmental delays. He had some odd tics that began last year and was seen by a pediatric neurologist who ordered a chromosomal microarray.The results came back abnormal showing a 1p36 deletion and a 1q22 gain. So my hsband I were tested . My blood tests came back showing the exact same deletion and gain. My son has seen a pediatric geneticist who indeed confirmed my son has 1p36 deletion syndrome[ a milder form]. I am supposed to be seen at the University of Colorado adult genetics clinic but am awaiting an appointment to be scheduled.
I just wonder if there could be any relation to chromosomal abnormalities and severe aplastic anemia. My mother has idiopathic cardiomyopathy which no one has been able to tell the cause of. My sister has multiple sclerosis as well and has recently been diagnosed with a 6 cm mass in her brain .She is being worked up currently to find out what it is. So I am wondering if there are chromosomal problems in my family possibly? I also wonder how much at risk my son is for autoimmune diseases because I have aplastic anemia and my sister has MS. My sister declines to be tested for genetics testing.
So that is what has been on my mind and I thought I might email Dr Maciejewski before my appointment to see if he might have expertise.
Thanks again,Ellen

[Ruth Cuadra]

Ellen,

It sounds like your family has more than its fair share of health challenges. Your son is lucky to have you and your husband seeking information and help for him on every front. If that research helps to explain your SAA or your sister's diagnoses, then you will have helped the community of those stricken with these maddening diseases too. I hope you'll share with us any light that Dr. Maciejewski can shed on these issues.

Good luck!
Ruth

[Ellen McDonough]

Hi all,
I just weaned down on Cyclosporin about 5 days ago.I have this horrible headache over the left temporal area that hurts to touch or brush my hair. It hurts way worse with bending over and lying down. Got worse this afternoon. My left face is numb and the left jaw hurts to chew.I have worse tinnitus and some black spots in my vision.I have had these symptoms before but much less .Last March when I was weaning down on Cyclosporin I had this happen and had the left temporal artery biopsied for temporal arterititis which the rheumatologist thought was negative. My neurologist has had me taking Topamax which was helping but now is doing nothing. I am wondering if the weaning of Cyclosporin has done something. I was only taking 50 mg and weaned down to 25 mg but it is the ONLY thing different.I emailed my hematologist and he has asked me to contact my neurologist which I have emailed.I will have contact tomorrow I am sure. My hematologist doesn't think it is likely to be the Cyclosporin because iit is such a low dose but said it could be some "immune " problem.
I am just wondering thoughts. I weaned down to 50 mg from 100mg in November 28, 2012 so we have weaned from 100mg to 25 mg in less than 3 months.Maybe too quickly?? Just was wondering others thoughts? I am tempted to go back up on my dose on my own because I am afraid.
Thanks,Ellen

[KMac]

Hi Ellen,

I am so sorry to hear you are having this repeat of your bad headaches. I have struggled with headaches through this process, but not like the ones you are having and not with facial numbness and vision issues.

I think it sounds like a good idea to get Dr. Nash's opinion. I know little about this, but a Google search just now on 'autoimmune headaches' produced many hits. Especially about a condition called 'Vasculitis' related to blood vessel inflammation. It looks like it can be treated with steroids or immune suppressants, so maybe there could be a relation to the cyclosporine taper.

I hope you can get some sleep tonight, but based on your symptoms I think if it isn't any better in the morning you should go to the emergency room at Kaiser if another doctor won't see you right away.

Kevin

[Neil Cuadra]

Ellen,

I suppose it could be a coincidence but since these symptoms have occurred twice after cyclosporine reductions that's strong evidence of cause and effect. These are not symptoms you can or should tolerate so I'd expect your hematologist to increase your dose in the hope that it will alleviate the symptoms. Assuming it does, you can try tapering again, but it'll have to be later. Tapering has required some trial and error for many patients.

If it's indeed "some immune problem" then returning to the higher cyclosporine dose makes sense. Since cyclosporine is an immunosuppressant, it's logical that a reduced dose could reveal immune system issues that are still a problem but were previously controlled (suppressed) by the drug.

Waiting for email from a neurologist seems like a slow approach, and changing your dose without talking to the hematologist again is less than ideal. Any chance of talking to them both today, or getting them to talk to each other?

[Ellen McDonough]

I saw my hematologist today and we are bumping up the Cyclosporin dose to the previous dose. Hopefully this will take care of the symptoms.Interestingly over the past day I have developed swollen aching knees, ankles and elbows and very upset GI system.It all seems like immune response .
So strange how we all react so individually .