Undiagnosed & feeling like we are getting nowhere

[Shawna E]

I am a mother of a young boy who over the past 2 years has been tested for multiple diseases but are still without a diagnosis. He has recently had a bone marrow biopsy that showed he is hypocellular (30 - 40%) with hematology panels that change from normal to low with no apparent reason. The Dr's cannot exclude a bone marrow disease but cannot confirm at this point either. We have seen orthopedics, rheumatologists, biochemical & metabolic clinics, pedatricians and many more I am sure I have forgotten along the way.

My son is about to turn 5 in 2.5 months and has not gained any weight in over 2 years, has major bone pain, is always exhausted (we had to take him out of morning preschool as he cannot get up to attend & teacher states his energy levels do not come close to other children his age) with weeks where he is only awake for 5 hours a day, very pale, low wbc, high esr, strange rashes that are not fungal, bacterial, viral, eczema, psorriasis. Severe headaches, black bags under his eyes, swollen eye lids, photosensitivity, seems to react poorly to sun, poor appetite (spells - not always, sometimes he does eat like a horse and boy do I smile), barely ever does he sleep throught the night - awakened from pain in his knees, back and feet.

I have become increasingly worried (justified at this point - I think..) and it is affecting everyone in our family. The endless dr appointments, the lovely people who look at him and see a normal boy, and the financial strain. I know I am among others I am sure who have been so very frustrated with the lack of answers and sometimes with the lack of care and am hoping that by joining this forum I may find some support from others who have been through similar situations.

So I guess I should say Hello everyone!

Shawna
There is so much more to add but it will have to be later...off to build a model truck with my littlest

[Neil Cuadra]

Shawna,

That's a scary and frustrating position to be in. Having so many symptoms without a diagnosis can be worse that knowing it's a specific disease, even one known to be serious.

We're not doctors but since this is a forum site about bone marrow failure diseases perhaps we can help compare your son's symptoms to those of moderate aplastic anemia or even hypocellular MDS. Did his bone marrow biopsy show any problems in his chromosomes?

Does anything in his/your family history provide a clue?

His exhaustion and headaches fit with the low red cell count often seen with aplastic anemia. A low white count from AA could leave him prone to infections and some of those symptoms could result from infections. Could you be more specific about what his blood counts have been like?

Even though those symptoms match what we often hear in these forums, the variety of other symptoms (skin problems, photosensitivity, swollen eye lids, inflammation, mostly suppressed appetite, pain in his knees) doesn't match the profile of a typical pediatric AA patient. I can see why you and the doctors are having trouble solving this puzzle.

Your son may have a combination of disorders, and when any one of them is rare the combination is even more rare and harder to diagnose and treat.

[Marlene]

Hi Shawna,

This is long shot but have they tested him for some of the congenital diseases associated with bone marrow failure. Even though my husband was 50 when diagnosed with SAA, they still tested him for Fanconi, Black Diamond and Dyskeratosis Congentia. Even though you would expect to see the classic symptom and physical trait of each disease appear, sometimes the only symptom is anemia. It's worth ruling these out if they haven't already.

Also, how about heavy metal toxicity like lead, mercury or arsenic?

Marlene

[evansmom]

The symptoms sound a bit like HLH (histiocytosis), which is a disease that eludes many a practitioner.

http://www.histio.org/page.aspx?pid=387

[Shawna E]

Hello Everyone!

Thank you all for replying and caring, even though you are all dealing with so much yourselves. It is a welcome change to talk to others who must deal with so many healthcare issues also.

We have finally found a case manager - what a relief to some extent. Instead of all these different specialists' not conferring with one another we now have a consultant pedatrician who is looking into a case conference between all of the various specialist's we have already seen & hopefully find some answers - but we were informed yesterday that we need to prepare ourselves for the chance that there may not be any, at least any time soon.

So on to some results:

Recent Previous (over the past 2 yrs)
WBC 4.4 6.3, 5.5, 5.9, 4.3
RBC 4.34 4.39, 4.15, 3.81, 4.27
HGB 127 126, 118,106,123
HCT .366 .37, .352, .33,.36
MCV 84.3 83, 84.4, 86,83
MCH 29.3 28.7, 28.4, 27.8, 28.8
Platelets 244 217, 405, 365, 298

Differentials:
Neutrophils 1.93 3.6, 2.85, 3.4, 1.6
Eosinophils .16 <.1, .56, .5, .1
Basophils .03 <.1, .05, <.1, <.1
Lymphocytes 2.08 1.8, 1.67, 1.1, 2.2
Monocytes .30 .9, .37, .9, .3
Reticulocyte count 44
ESR 50, 8

INR 1.1
aPPT 33
Ferritin 78
C Reactive Protein Rapid <5 , 1.0
C3 1.12
C4 .44
CK 25
ANA Equivoval Titre 80 Pattern Homogeneous - previously Negative
ENA Negative
Rheumatoid Factor <10

Bone Marrow
Aspirate Excellent
Biopsy Good
Total Cellularity Reduced
M/E Ratio Normal
Megakarycocytes Present

Bone Marrow Differential
Neutrophils 14
Lymphocytes 32
Band Cells 20
Eosinophils 4
Metamyelocytes 10
Pronormoblasts 2
Early Normoblasts 2
Intermediate Normoblasts 7
Myleocytes 6
Late Normoblasts occ
Promyelocytes 2
Blast Cells 1

Few reactive lymphocytes present, no abnormal circulating cells

M/E ratio appx 5:1 considered high normal
Granulopoiesis generally noroblastic with occasional megaloblastoid forms
Granulopoiesis orderly maturation
Megakaryocytes are present and show normal morphology
Lymphois cells appear mature with occassional hematogones noted
Blast cells are not increased
Few cells that appear to be larger lymphoid cells, however no cells foreign to bone marrow present
Cellularity 30 - 40%
Moderate focal aspiration and hemorrhagic artifact
Trilineage hematopoiesis is presesnt with small erythroid islands, regions of granulopoiesis and scattered megakaryocytes
No abrnormal infiltrate identified
hypocellular areas are composed of unremarkable fat cells
Comments:
Bone marrow does not show any morphological evidence of malignacy. Occassional lymphoid cells that appear larger and few show slightly irregular nuclei.
Flow Cytometry does show presents of hematogones however no abnormal lymphoid population is identified

The cause for hypocellularity for age is not morpholically apparent. May be due to reactive phenomenon due to systemic illness. Although early bone marrow failure syndrome cannot be entirely excluded it is noted the the peripheral blood counts are unremarkabe and this diagnosis is not favored at this time.

We are currently undergoing more testing for metabolic & biochemical diseases but will not have those results for 8 weeks

I really appreciate all of your thoughts, comments etc. One thing of note is that my son have multiple protein intolerances and major allergies. The Drs & I are querying whether his blood counts would be 'off' dur to this. Allegies increase WBC and with his allergies they actually expected to see very high WCB....

On a great note, McLean gained his 1st pound in over 2 years!!!! Strangely enough it was during his worst appetite weeks.

Again thank you,
Shawna
Mother of McLean (4.75 yrs) In addition to his undiagnosed illness he is Anaphalactic to Dairy, Goats milk, Soy, Almonds, Severe allergies to Egg yolk, peaches, pears, plums, flax, turkey

[Shawna E]

I forgot to add:

Tey did not do the chromosome testing as the marrow was negative for Leukimia.

They are currently testing for toxicity due to lead etc...

Family history is very scarce - My mother only recently learned her mother was adopted, her father was not her father. My biological paternal side is not well known nor are they available to talk to & my hubby's parents "don't have health issues, apparently we are all quacks when it comes to needed medical care...hard to swallow as I myself am diabled with Myofascial pain, Fibromyagia, Partial complex seizures, Anemia, Allergies, Bones that break from walking, osteoarthritis, polyinflammitory arthritis, early onset menopause and yes I am beginning to think they have misdiagnosed me and that many of my symptoms are really something else..

[Neil Cuadra]

In considering whether this sounds like bone marrow failure, these are the sentences that I found most relevant. Here's how I interpret the "medicalese" in English.

Originally Posted by Shawna E

Trilineage hematopoiesis is presesnt with small erythroid islands, regions of granulopoiesis and scattered megakaryocytes

Translation: Your son's marrow contains the precursor cells for red cells, white cells, and platelets, as it should.

Originally Posted by Shawna E

Bone marrow does not show any morphological evidence of malignacy.

Translation: The cells in his bone marrow have normal sizes and shapes (so I think you can rule out MDS).

Originally Posted by Shawna E

The cause for hypocellularity for age is not morpholically apparent. May be due to reactive phenomenon due to systemic illness. Although early bone marrow failure syndrome cannot be entirely excluded it is noted the the peripheral blood counts are unremarkabe and this diagnosis is not favored at this time.

Translation: Low cellularity doesn't seem to be from bone marrow failure and is more likely from some other cause, which may in turn affect the bone marrow. They can't be 100% certain it's not bone marrow failure but it makes more sense to look elsewhere for the explanation.

When my wife and I read bone marrow biopsy reports we "translate" them like this and then ask the doctor if we're correct. I suggest that you do the same anytime you find the terminology hard to interpret.

[Shawna E]

Thank you Neil I have asked for clarification and have not received a response as of yet from the Hematologist.

[RoboDad]

Have they ruled out Lyme disease? We are battling this similar issue with my daughter. Just tested positive for Lyme.

[Sally C]

Hey again RoboDad,
Since you mention Lyme in this post as well I just wanted to put my 2 cents in for this post too.

As someone who has had Lyme disease twice, and fortunately it was caught early, you are correct that it can manifest itself in many unusual ways. And it is more prevalent than people realize.
As for testing, my doctor told me it's a reactive test. In other words you could have it and still have the test come out negative. We went by the fact that I had been bitten and also my symtoms. The only symptom I didn't have was the characteristic "bulls eye" so one doesn't always have that when they have Lyme disease. I am always suspect of Lyme when I hear of people having weird symptoms with no easy explanation.
Sally

[DKayeS70]

Hi, I have been dealing with the EXACT issue for my son whom is now 15 years old, with a g-tube. He can not eat anything anymore. All the symptoms you posted are exactly Miles. Have the tested for Jobs Syndrome? (HEIS)

[milliken2]

Shawna;

Your earlier post -

I myself am diabled with Myofascial pain, Fibromyagia, Partial complex seizures, Anemia, Allergies, Bones that break from walking, osteoarthritis, polyinflammitory arthritis

, - and the fact that you cannot get familial history on your Mother's side is difficult. Some of what you are describing for yourself is definitely neurological, and part is auto-immune in origin. Is there any information regarding Hemophelia (almost always in males) in the family. If, perhaps, he does have an internal bleed - maybe even a microsopic one that drains his energy and red cells - thereby giving him less energy - might be considered. I know he is very young, but possibly an upper and lower GI done by a GOOD pediatric surgeon - and an EUS (Camera scope of the bowel that can't be reached by the regular scopes) might at least verify that there is no bleed anywhere.
Do you know what his oxygen saturation is? If not - go to Walgreens and buy a Pulse oximeter - can be used on all of the family - but will check how much oxygen is in his blood. Anywhere below 92 - usually supplemental oxygen is needed.
But the best advice I can give you is to keep a journal, and ask the Dr.'s - all of them - for copies of his medical records, lab work, test results, etc. and keep them in order so that you will have all the answers when any other Dr. asks you.
I wish you much luck, and congrats on the weight gain!

Beth

[Shawna E]

Hello!

Just wanted to let everyone know that we have finally found a diagnosis that is going to be confirmed by a geneticist shortly, well with any year I still feel that shortly after all of this.

Turns out my self and all of my children have inherited a rare genetic condition, called Ehlers Danlos syndrome. The bone marrow involvememt is secondary to this. As is the allergies, pains, and every other symptoms he, and the rest of our family have pretty much. At one point in the last 2 years we have been prepped that he may have been one in the world, so we are very glad to finally have a name, something with research behind it and support groups.

Thank you to everyone that responded to my post, it is an amazing feeling to connect with other people dealing with severe health issues. Thank you and I wish each amd every one of you well 💟