Orphan diseases

[alizesmom]

Anyone with an undiagnosed child? Hearing "it's genetic but we haven't found the defective gene yet"? My daughter is 7 and still nothing. I hate the not knowing! Anyone else? Karen

 

[LMC]

My son was 8 yo before he got a diagnosis. He was not eligible for alot of medical services before his dx because of insurance rules so we missed out on alot of valuable years of treatments. Keep plugging away and researching on the internet. I actually found my sons genetic condition and took him to a geneticist (I never knew they actually saw patients) and she agreed and they just developed a blood test in the last year which confirms the dx. My son is 17 yo now so sometimes it takes time. Just get the services your daughter needs for any conditions she may have as that is what you would do anyway with an official dx.

 

[clanmcculloch]

We basically focus on treating symptoms and individual, somehow unrelated (yeah right) unlabelled conditions. DD14's Gastroenterologist does "get" that there's some underlying connection with everything going on and even sent us to a geneticist. The geneticist was more interested in his specific research than helping my DD IMO so he was only willing to test for what HE was interested in rather than ordering the additional tests her GI doctor thought would be beneficial. So, in the mean time, we have an alphabet soup of little things that are all disconnected with no underlying diagnosis. So, we treat the various issues. Overall, she's doing pretty well with this. I do think she'd be doing even better if we fully understood her issues but in the mean time she's thriving and pretty healthy overall.

 

[daughtersrus]

Anyone with an undiagnosed child? Hearing "it's genetic but we haven't found the defective gene yet"? My daughter is 7 and still nothing. I hate the not knowing! Anyone else? Karen

It took us 7 years of searching before DD was diagnosed. I used to know how many of each specialist we saw but over the years I've forgotten that and just remember that it was 5 geneticists.

She had every type of test out there, CT, MRI, MRS, EEG, EKG, EMG, chromosome, blood, urine, skin biopsy, fibroblast of the skin... and in the end, the last geneticist thought she had one of the "lysosomal storage diseases" and ran a simple blood test. Sure enough, Sept 11, 2001 we got a notice that the lab had found something. The geneticist was at a conference on the west coast and couldn't get a plane back and no one wanted to tell us the name of the disease. After much crying and pleading, they told me over the phone that she has Alpha Mannosidosis with the promise that I wouldn't search the internet. Of course that was the first thing that I did when we hung up. There were literally 3 links to that disease because it was so new in humans and so rare.

Several months later I was cleaning out our computer desk. I came across a tablet where I wrote "have they checked for" and Alpha Mannosidosis was one of the three diseases listed. I wish that I had dated it but I didn't. At the time, NORD had a link on their site where you could plug in the symptoms and it would give you names of diseases that fit. Sure enough, I had diagnosed DD long before the doctors did.

I asked her geneticist about why none of the other doctors found it. He said that even though DD had every symptom, the other doctors didn't look further because her Urine Organic Acid tests were all "normal". He explained that it was just a screening and that they should have looked further. It really saddened us because by the time DD was diagnosed, the disease had progressed to the point that she was no longer a candidate for a bone marrow transplant. The only treatment out there.

DD has a few other symptoms that are not part of the disease (very small in size, has never been able to walk, talk...) and it's speculated that she has a second disease as well. We've given up trying to find a name for that one.

 

[PatsMom]

It took my brother and sister-in-law until my niece was three to get a diagnosis. It was so frustrating for them. Almost from the time my niece was born everyone could sense something "off" with her. But for the first year the doctors just said she was running behind schedule because she was a few weeks early. Didn't seem right to me but my brother and sister in law accepted it.

When she got to be one they did start pushing for a diagnosis. Eventually after a lot of genetic testing she was diagnosed with Angelman's Syndrome. We wondered why she wasn't diagnosed sooner but evidently there are two types of Angelman's - a genetic deletion or a duplication. One means the child is just missing the defective chromosome (most common) and the other means she has two paternal chromosomes and no maternal. My niece has the second, so a rare subset of an uncommon condition. And she didn't fit the physical profile so it wasn't the first thing looked for.

I can't imagine what her parent's were going through - it was tough on the whole family but I am sure it was worse for them. She is a very happy child - we call her sunshine! Having a diagnosis didn't make much difference really other than giving everyone some idea of what to expect in the future for her.

 

[buffettgirl]

I spent years telling our endocrinologist that there was 'something more' going on with my son and it took one smart ophthalmologist to recognized it and one blood test to find the gene. It was both the worst day and the best day, because I knew now what we were dealing with.

our disease is still listed as orphan but the gene is known so I'm not sure what qualifies it, but the gene was only found recently. So ...you never know.

 

[TiggerStac]

We basically focus on treating symptoms and individual, somehow unrelated (yeah right) unlabelled conditions. DD14's Gastroenterologist does "get" that there's some underlying connection with everything going on and even sent us to a geneticist. The geneticist was more interested in his specific research than helping my DD IMO so he was only willing to test for what HE was interested in rather than ordering the additional tests her GI doctor thought would be beneficial. So, in the mean time, we have an alphabet soup of little things that are all disconnected with no underlying diagnosis. So, we treat the various issues. Overall, she's doing pretty well with this. I do think she'd be doing even better if we fully understood her issues but in the mean time she's thriving and pretty healthy overall.

May I ask what your daughters symptoms are?? I have been dealing w/misdiagnosis of GI issues for 15+ years. My son has a rare disease that may now shed lite on an appriopriate diagnosis for me.. that is why I ask

 

[clanmcculloch]

May I ask what your daughters symptoms are?? I have been dealing w/misdiagnosis of GI issues for 15+ years. My son has a rare disease that may now shed lite on an appriopriate diagnosis for me.. that is why I ask

Lets see...... Here's the list.

• pancreatic insufficiency: her body doesn't produce sufficient amounts of the most of the enzymes required to digest carbohydrates; treated with enzymes by Kirkman Labs called Carb Digest
• abdominal bloating, nasea, vomitting, coughing up little chunks of stuff, slow but not clinically slow motility, bouts of diarrhea and constipation; treated with diet (long list of foods we've figured out to eliminate) and Gastrocrom oral
• GI biopsies (duodenum, stomache, esophagus terminal ilium, ilium) show abnormalities but they're not specific to any particular diagnosis; treated through diet and the other meds listed here
• Some IgE and IgG responses to certain foods; treated with diet (long list of foods we've figured out to eliminate) and Gastrocrom oral
• muscle twitches; treated with oral vitamin D (lovely side effect of GI issues)
• something the neurologist calls visual migraines but I question whether that's correct or not, it's what doctors tell me I've got as well but I just don't know; no pain involved, but she'll start getting this black mixed with very colourful "aura" type of thing happening that will at times completely block out her vision and sometimes make her completely lose her balance. Thank goodness it doesn't happen very often any longer, since she's been on antibiotics (see blow) and vitamin D
• atypical reaction to strep; unofficially diagnosed with PANDAS, treated with 5 months of antibiotics so far though I need to call the doctor today to get her latest titres to see if she can come off them or not, as well as Zoloft and continuing CBT. Even before the PANDAS, whenever she'd get strep, her symptoms were abdominal (few days of bloating and pain which I'd realize in hindsight when I'd figure out the strep and get her tested) and severe joint pain; no sore throat.
• hypermobility of many joints, though only one dislocation in her whole life and that was a typical toddler one (elbow) so I'm not really not thinking EDS though she does have a few scars that I'm surprised are actually scars and she had lots of scar tissue in her terminal ilium according to her GI doc so maybe I should be more diligent about demanding testing. The geneticist refused to run the test at my request; as I said, I think he was more interested in his research than in helping her since he tested only for things he's actively doing research on from what I can gather in our conversation.
• when she was younger, any time she had a GI flare, she's have progression of puberty but when we'd get the flare under control it would stop. According to her GI, he's seen that there's research being done that does show this exact phenomenon in some autistic girls tieing together these overall issues with pituitary issues but unfortunately he had no pull in getting us in to see the endochronologist who was doing the research and I feel like that became a dead end that REALLY should be followed up on. He didn't know anything more than that unfortunately and the doctor was not taking new patients and nobody could recommend a doctor who IS familiar with this.
• I'm not sure how to say this in a way that won't upsome some people (I don't get it but it does upset some people) but I see her autism as a symptom as well. She definitely has worstening issues when any of these health things is rearing their ugly heads. Sometimes I wonder if she'd really be on the spectrum had I known about my own GI issues and food issues when I was pregnant and nursing as the neurological issues are very much affected by her GI issues. I'm not saying I blame myself; just that I wonder how different things would be for her. OK, maybe I do blame myself to some degree because her issues seem to be very much inheritted from me but it's more from a clinical observation type of thing than a guilt thing if that makes any sense; there's no doubting that her issues are inheritted from me.
• I know this will sound weird but I see the fact that she doesn't get sick as a symptom in a weird way. Her immune system is in hyperdrive. She gets flares of her health issues but she never contracts the regular infections that spread around schools (other than strep that is; see above).

Hmmm.... I know there's more but I'm blanking at the moment. I'm open to any thoughts you might have. I'm always grateful to hear other ideas as I think sometimes I'm just too close to it to see through those nasty trees to catch a glimpse of the forest.

 

[WheeledTraveler]

Have you (collective at the people without and parents of kids without diagnoses) thought of looking at the NIH Undiagnosed Diseases Program ( http://rarediseases.info.nih.gov/Resources.aspx?PageID=31 )? It may not give you answers immediately, but at least it would get some research done that could potentially lead to answers for your families and future kids with the same symptoms.

While I'm now diagnosed (sorta), I definitely remember the frustration of not knowing what's wrong. It took until I was 26 for me to get diagnosed with EDS, despite having symptoms reported to doctors for at least 20 years prior. This includes the doctor (rheumatologist) who put in my notes that I had "mild joint laxity that won't cause any problems". Plus I have a lot of the weirder EDS symptoms because I have a bunch of co-morbid conditions (in the past 19 months I've gone from being completely undiagnosed to having at least 7 diagnoses that deal with my physical health alone - that's not counting the learning disabilities and mental health diagnosis I have since they were diagnosed in my earlier 20s, although still later than they should have been). We still don't know if we have everything, but I was completely prepared to get told I didn't have EDS and there was nothing that can be done and they had no clue what was going on. (Not that I am responding well to most treatments for EDS, but I'm weird )

We spent so long trying to figure out what was going on that we'd given up with a name by the time I finally saw the EDS specialist who started the list of diagnoses (it seems like every time I see her, I get more, too). I was considering looking into the NIH program for rare/undiagnosed diseases before I got the diagnosis and I have a couple friends who have EDS plus other unusual conditions who are doing that program. It might be something to look into for those of you who don't have a diagnosis (or have undiagnosed children).

Lets see...... Here's the list.

• hypermobility of many joints, though only one dislocation in her whole life and that was a typical toddler one (elbow) so I'm not really not thinking EDS though she does have a few scars that I'm surprised are actually scars and she had lots of scar tissue in her terminal ilium according to her GI doc so maybe I should be more diligent about demanding testing. The geneticist refused to run the test at my request; as I said, I think he was more interested in his research than in helping her since he tested only for things he's actively doing research on from what I can gather in our conversation.

Just to note, plenty of people with EDS don't dislocate at all and are "only" hypermobile. I didn't dislocate (that we know of) at your daughter's age, but my EDS specialist sees me as pretty much an obvious case of EDS (and was shocked I wasn't diagnosed years earlier). Given the list (including the autism - there seem to be a good number of EDSers with some level of autism) you put here, I'd actually suggest that it might be worth the travel to see an EDS specialist. It's a clinical diagnosis as they don't know all the genes yet and in my experience doctors who aren't very familiar with EDS tend to brush it off as a possibility if you aren't the extreme. It wouldn't explain everything, but it might be a link for many of the symptoms either from EDS itself or EDS plus some of the common co-morbid conditions.

 

[clanmcculloch]

Thanks for the info about EDS. I know I saw some kind of skin test that can be done for the vascular form of EDS. Because of the hypermobility and a few scars and intestinal scar tissue plus the weird head thing that I actually worry could be vascular in nature (I don't buy the visual migraines but it's all anybody can tell me) I do worry and would like her tested. I can probably get her primary doctor to order the test next time we see her. She didn't bat an eye at ordering other tests that seemed to make no sense but came back positive so she's likely agree to that one as well. My own form of GI issues does show evidence of collagenous issues (the GI doctor later told me he was upset with himself for not testing specifically for collagenous collitis as once I mentioned it he realized that what he saw during my colonoscopy was very much a typical visual presentation of it) as well so I really should push for testing. If it's not vascular then I realize that there aren't specific tests so I really should probably look for a specialist who can evaluate her. I go through phases where I'm hyper vigilant about following up on my kids' health issues and then I get burned out and kind of bury my head for a while, ignoring any further investigation into their problems. I've been doing the burying my head thing for a while as we get DD14 through her PANDAS OCD and getting ready for high school. I'm probably getting near a point where I can start following up again on her health issues. But, then again, even if we get an EDS diagnosis, what would actually change about her treatment? Isn't EDS treatment basically just treating the symptoms and in certain forms of EDS knowing to watch for specific issues such as heart problems or certain types of ruptures? I know, that's VERY important, but at her age, what does it really mean once getting a diagnosis?

 

[WheeledTraveler]

The "skin test" for Vascular EDS is a skin biopsy so more invasive than things like skin tests for allergies. I suspect she'd have to see a dermatologist or geneticist to get it done. And of course even if it came back negative, it wouldn't necessarily mean she didn't have EDS/it isn't in your family. I totally understand the focusing on certain things at certain times, though, and the taking breaks in searching. I've hit a point where I won't deal with more than about 2 issues at a time and I try to limit myself to one medical appointment a week when possible.

As far as what they can do for EDS specifically, it is treating symptoms, but it's also working on preventing future problems. For example, physical therapy and/or specific types of exercise to strengthen muscles the correct way so that they hold joints in place without straining the muscle. There might be modifications to things like PE and/or OT type training or tools that help prevent damage. Also, in the long run it might actually help her access to appropriate medical care. I was a teenager when things got bad enough that we started pushing for answers and because the doctors couldn't figure it out and my test results were all normal, they decided it must be all psych. So I kept getting pushed back and forth between psychiatrists who said "well, you have some anxiety and depression, but it's mainly because no one is treating your physical problems" and various specialists (neurology, rheumatology, etc.) who kept telling me it was psych or completely brushing me off all together. It took me 3 years of working with my psychiatrist on my fears of seeing doctors after I was fairly certain I probably had EDS to actually see the specialist because I was so scared that she would brush me off. Once I had the diagnosis, no one doubted that it was physical and I've even seen one of the rheumatologists who had previously brushed me off so it's not just people who hadn't seen me before. But it will take years to deal with the psychological damage of how I was treated prior to diagnosis and who knows if some of the things will ever go away. So one of the reasons I see for diagnosis is to try to prevent that sort of side problem from occurring.

 

[lucigo]

Lets see...... Here's the list.

• I know this will sound weird but I see the fact that she doesn't get sick as a symptom in a weird way. Her immune system is in hyperdrive. She gets flares of her health issues but she never contracts the regular infections that spread around schools (other than strep that is; see above).

.

This doesn't sound at all weird to me. My 9yo son with autism has never been on antibiotics, never had an ear infection, throat infection, etc. He has had a couple of diarrheal type illnesses and he gets mouth sores. Other than that extremely healthy.

 

[clanmcculloch]

This doesn't sound at all weird to me. My 9yo son with autism has never been on antibiotics, never had an ear infection, throat infection, etc. He has had a couple of diarrheal type illnesses and he gets mouth sores. Other than that extremely healthy.

I can't recall; is he gluten free? Have you ever tried gluten free? I'm asking because the mouth sores are symptoms both my DD14 and I get when glutened. A much higher percent of autistic kids have gluten issues than the general population and the fact that he has GI issues as well as mouth sores suggests it would be worth at least trying (I'd actually recommend GFCF, not just GF, but if you're more comfortable with just GF at least consider that).

 

[SueM in MN]

I thought this website might be of interest to people on this thread.
http://addiandcassi.com/

These litre girls have a rare cholesterol storage disease called Niemann Pick type C and their story was recently featured in Good Housekeeping. During their efforts to find treatment for their daughters, the patents became advocates for rare diseases in general and have a lot of good info on their website.

 

[lucigo]

I can't recall; is he gluten free? Have you ever tried gluten free? I'm asking because the mouth sores are symptoms both my DD14 and I get when glutened. A much higher percent of autistic kids have gluten issues than the general population and the fact that he has GI issues as well as mouth sores suggests it would be worth at least trying (I'd actually recommend GFCF, not just GF, but if you're more comfortable with just GF at least consider that).

Thanks for the tip, but no, he isn't gluten free. He has a pretty limited diet, but foods he does eat are healthy. He gets the mouth sores infrequently, not enough to be a problem, but I mentioned them because they are the only real "illness" that he gets that I can't relate to his autism.