3 months, still no answers

[NikkiNak]

Starting from the beginning so this may be a little lengthy, sorry in advance.

Starting end of December/early January, I noticed my 5 year old son becoming very tired, face being pale, not eating much, and complaining about lots of pains in his legs.
He's not much of a napper and he was coming home from school, going straight to bed, and not waking up until the next morning. I brought it up to his Dr. and she said he was probably just tired from school and the pains are just growing pains.
On February 11th, he cried that morning that he was too tired to wake up for school and his legs were hurting. I gave him some tylenol and he went anyways.
He came home and slept, didn't want to eat, but I made him wake up and take a quick shower before he went back to bed. As he was drying off I noticed petechiae and bruises all over his body.
He was exhausted so I let him go back to sleep and I took him straight to the Dr. in the morning.
They did his blood work and his platelets were at 6.
He was admitted into Rady's Childrens hospital. They told us since only his platelets were the only thing that was wrong he had ITP and they would start the treatment. They did 2 IVIG treatments and they didn't work. In fact, his platelets dropped down to 2. They started him on prednisone and 3 days later they went up to 30 and he was released.
The next week we went back to talk to the hematologist and his platelets went back down to 15. She suggested we do a bone marrow biopsy.
So we scheduled it that next week, got the results back that he had abnormalities and what she was seeing was completely opposite of what she would see in ITP.
She mentioned that it looks like MDS through the pathology report but wanted to wait until she got the genetic report back.
A week later it came in, and he didn't have any chromosome or genetic marker for MDS so she said he doesn't fit the criteria.
She suggested we wean him off the steroids since they aren't working and she wanted to see what his body will do without them and wanted to schedule another bone marrow when his body is clear of the steroids.
So we waited, he had 1-2 blood tests a week for the past 9 weeks, and 2 transfusions. His levels jump anywhere from 5 to 50. He even jumped all the way to 150 at one point and the next week was back down to 30.



After waiting the 9 weeks, we finally spoke to her yesterday, he is scheduled for another bone marrow biopsy tomorrow.
She again brought up MDS and this time even AA but said that she wants to see what the bone marrow looks like with no steroids because there is a chance that maybe the steroids could have altered the test.
She said he's a mystery at this point, he has the signs of things like MDS, AA, or even ITP but nothing that is consistent with one of them. She said with MDS or AA not just his platelets would be affected, that his other blood cells like red or white would also be affected and they aren't at this point. Everything is normal, just not his platelets and not his bone marrow from when she last looked at it.

She also mentioned that maybe it's rheumatology related.

His physical condition is worse. He's still VERY tired which isn't like him at all, he gets very very pale, petechiae breaks out all over his cheeks, he complains a lot of leg, hip, and neck pains, and most recently chest pains and saying it's hard for him to breathe.

Has anyone had anything similar? I'm trying to be patient but after 3 months of him in a lot of pain and getting worse it's frustrating.

Thank you in advance

[Hopeful]

Hi Nikkinak,

It must be so hard to watch your son suffer I hope they can quickly determine the cause of this!

Make sure that your son is being seen at a hospital with expertise in these diseases, as they are both rare. It's always worthwhile to get a second opinion. A person can have AA and have a normal absolute reticulocyte count and/or absolute lymphocyte count. NIH believes that these are positive markers for response to IST. Given time, if he has AA, these will likely track down. Also, a person can have MDS without genetic abnormalities. What specifically does the BMB report say? Does he have an empty marrow? Has his doctor done extensive testing for other possible causes?

I remember having bad aches in my legs and neck. For me, it was when my blood cells were increasing.

[NLJabbari]

Hi NickiNak,

Sorry to hear about this. Just a thought...might it be that when your child was initially diagnosed with ITP, he was in an early stage of either AA and therefore inconclusive diagnosis?

Has your son had nosebleeds or bleeding from the gums? The only other thing besides the bruises and petichae that sounds familiar to me, is the shortness of breath. I recall my then 10 y-o son saying, "My heart is beating really fast and I can feel it." Might this be the chest pain your son is experiencing?

With your child's low platelet count, I would be concerned about possible internal bleeding. Please ask his doctor what she recommends as far as activity to eliminate or avoid. I'm wondering if his body aches/pains are related to this.

Just a couple of things that come to mind that you might want to ask his doctor about.

I hope tomorrow's BM Biopsy will give you a definite answer as to what is going on and how to best treat your child.

Take care

[Chirley]

Hi, this sounds like what happened to my brother when he was 10 years old. He was diagnosed with ITP. Thirty years later, he had an ANA test for the first time and he tested grossly positive for Lupus. There was no test for Lupus when he was 10 and no one had thought of challenging the diagnosis in the meantime.

He is now 62 years old and in good health. He requires no ongoing treatment but does need a platelet transfusion from time to time and a short course of high dose steroids.

There was some talk that the original problem may have been triggered by a course of Sulpha drugs he was given for an ear infection.

Hope this gives you some peace.

Regards

Chirley

[NikkiNak]

Originally Posted by Hopeful

Hi Nikkinak,

It must be so hard to watch your son suffer I hope they can quickly determine the cause of this!

Make sure that your son is being seen at a hospital with expertise in these diseases, as they are both rare. It's always worthwhile to get a second opinion. A person can have AA and have a normal absolute reticulocyte count and/or absolute lymphocyte count. NIH believes that these are positive markers for response to IST. Given time, if he has AA, these will likely track down. Also, a person can have MDS without genetic abnormalities. What specifically does the BMB report say? Does he have an empty marrow? Has his doctor done extensive testing for other possible causes?

I remember having bad aches in my legs and neck. For me, it was when my blood cells were increasing.

He's being seen at Rady's which I know is a very good hospital and one of the top ones over here for oncology/hematology and BMT's.

I'm not sure specifically what the first BMB report said. The way she explained it was the things that make the platelets were small, abnormal, and he had a low count which is opposite of what they would see with ITP. And when the other report came in she said he didn't have the genetic abnormalities and therefore doesn't really meet the criteria.

[NikkiNak]

Originally Posted by NLJabbari

Hi NickiNak,

Sorry to hear about this. Just a thought...might it be that when your child was initially diagnosed with ITP, he was in an early stage of either AA and therefore inconclusive diagnosis?

Has your son had nosebleeds or bleeding from the gums? The only other thing besides the bruises and petichae that sounds familiar to me, is the shortness of breath. I recall my then 10 y-o son saying, "My heart is beating really fast and I can feel it." Might this be the chest pain your son is experiencing?

With your child's low platelet count, I would be concerned about possible internal bleeding. Please ask his doctor what she recommends as far as activity to eliminate or avoid. I'm wondering if his body aches/pains are related to this.

Just a couple of things that come to mind that you might want to ask his doctor about.

I hope tomorrow's BM Biopsy will give you a definite answer as to what is going on and how to best treat your child.

Take care

His chest pains started a few days before his school's jog-a-thon. I let him participate as long as he just walked. I got a call from the teacher saying he walked one lap (only 1/8th of a mile) and he started crying his chest and legs were hurting, and became really pale. I called the on-call dr and she said just to give him tylenol and have him lay down.

He's on very limited activity since his counts are so erratic and we can't ever really know what they are from day to day. He can't play at recess, can't ride his bike or skateboard, he had to quit his wrestling team and can't return to football.

[BrianFlaigmore]

Hi there,

My name is Brian and I went through a very similar thing a year and a half ago. At first the doctors believed it was ITP, Evans Syndrome, MDS, and finally settled on Aplastic Anemia. It sounds like you are in San Diego which is where I live with my wife (who is a nurse). If you have any questions at all please let me know.
I am so sorry that your family is going through this. I hope that you find relief soon for him!

Brian

[Marlene]

I echo hopeful's suggest regarding a second opinion. No matter how good your local center is, you need to have a doctor who has direct experience with AA/MDS. An accurate diagnosis is key in selecting a treatment path.

[NikkiNak]

Well the bone marrow biopsy and aspiration went just fine with no complications.
His platelets dropped from 59 to 40 in 2 days.
They're always very sporadic.

We meet with the dr to go over results and for his weekly blood test on Tuesday

I am interested in a 2nd opinion but not even sure where to start with that. I'm not familiar with any hospitals around the area that specialize in MDS/AA. Would they be able to contact his dr and get the info from her or do I need to send it in? Any info would be greatly appreciated

[NLJabbari]

Hi NikkiNak,

I have a couple of suggestions, you can call AAMDS.org and they might be able to give you advice on how to contact Pedi Specialist that might be able to teleconference and/or even speak to your son's Pedi Hem/Onc. I know that they have given me very helpful resources.

The other thing you might want to try is to get in touch with "Band of Mother's..." on FaceBook. They might have some suggestions as well.

https://www.facebook.com/BandOfMothe...Anemia?fref=ts

[sstewart09]

Where are you from? There are forum members from around the world so I'm sure someone is familiar with specialists near you

[Hopeful]

Hi NikkiNak,

I would ask your son's doctor on Tuesday for a copy of all BMB reports and CBC results for as far back as you can go (and do this at every appointment going forward). Your second opinion doctors will want this information, and because of HIPPA, you have to initiate the exchange. You will also want this information to track your son's progress going forward. An Excel spreadsheet is a great way to track concerning counts.

Most doctor's are comfortable with patients getting a second opinion and are open to collaboration, which is a great thing! Some have bigger egos and find it insulting. Just remember that you don't need your current doctor's permission to get a second opinion.

[NikkiNak]

Originally Posted by sstewart09

Where are you from? There are forum members from around the world so I'm sure someone is familiar with specialists near you

I'm in San Diego, CA

[NikkiNak]

Originally Posted by Hopeful

Hi NikkiNak,

I would ask your son's doctor on Tuesday for a copy of all BMB reports and CBC results for as far back as you can go (and do this at every appointment going forward). Your second opinion doctors will want this information, and because of HIPPA, you have to initiate the exchange. You will also want this information to track your son's progress going forward. An Excel spreadsheet is a great way to track concerning counts.

Most doctor's are comfortable with patients getting a second opinion and are open to collaboration, which is a great thing! Some have bigger egos and find it insulting. Just remember that you don't need your current doctor's permission to get a second opinion.

Thank you! I meet with the Dr. on Tuesday and will ask for the copies of everything

[NikkiNak]

Well we just got back from the Dr.
She said his megakaryocyte's look a little better now, they are larger which is showing they are actually trying to work at making his platelets.
But his cellularity (??) is still low which she isn't sure why.

She said since his bone marrow is making the platelets, the only other explanation for them being low is something is attacking them. But the constant fatigue and pains he's having are not consistent with ITP, they are more consistent with Lupus or JRA.

So she's sending him to rheumatology to see if they can find anything to explain what's going on.

But she said rheumatology still doesn't really explain the low cellularity.

I'm not really sure what to think or do at this point?