Moments, in the Undiagnosed World

Undiagnosed Disease Registry - Take Action!

2009-09-09T10:43:00.004-04:00

There are experts that say 30 to 40 percent of children with special needs do not have an exact diagnosis. This to me is a guess and we cannot fully appreciate the prevalence of the undiagnosed situations that many children face, until there is an opportunity to collect and share data about children that are faced with many signs and symptoms where a diagnosis hasn’t been determined.

Without knowing the prevalence of undiagnosed children, they will not get the attention they deserve. Children will continue to face some very serious medical problems without any information that may guide the doctors to a treatment. The effects of undiagnosed conditions on a child can range from mild issues to very serious issues that can even cause death. We may not know if the issues or deaths could be prevented if a diagnosis was determined beforehand. We shouldn’t have to wonder if a child’s death could have been prevented by knowing what the diagnosis was.

Such as in the case of Cal who was a five year old boy, whose mother had to watch him spiral downward for three years until his death just after his fifth birthday. After the death of Cal, Heather searched for answers to what mysterious disease caused the death of her son. After discussions with others the thought of a database to collect and share undiagnosed cases was prevalent in her mind. She set out to see how to get such a database to become a reality, in the name of her son Cal an act was brought to the US government. The Charles August 'CAL' Long Undiagnosed Diseases Registry Act of 2009 was introduced to the US House of Representatives, and is waiting to reach the floor for a vote. Read this in the News

The registry will not change the outcome for Cal, but a diagnosis even after death can help the family know whether this can happen in their family again. It may also help many other children experiencing the affects of an undiagnosed condition, like Elijah who was recently in the news. He is two year old boy who has no diagnosis for his many signs and symptoms. Read this in the news.

The registry will create opportunities that could allow for better chances to make a diagnosis or connect undiagnosed cases that are similar. The registry will not only have great potential for doctors to gain more information that will allow them to better treat a child’s condition, it also has the potential to save a great deal of tax payer money.

Many children with special medical needs are covered by variety of government insurances. Children with undiagnosed conditions are seeing many doctors and having many tests. Such as in my own daughter’s case, Lorna is 13 and has the affects of a undiagnosed syndrome. I have kept track of her many specialty appointments and tests since she was born, she is up in the 200’s now. There is no question that children like my daughter will be seen by a lot of doctors and have many tests anyway but there is a good chance that many doctors’ appointments could be prevented by having a proper diagnosis and a better understand for what is affecting the child.

It will be a combination of programs and opportunities that will create better opportunities for those with undiagnosed conditions to get a proper diagnosis. Just last year the Undiagnosed Diseases Program at the NIH was started to begin researching these cases bringing professionals together to discuss one case at a time. This was the beginning of changes, now is the time to step it up with the registry and start moving toward bigger changes.

You can read the bill language here.

These are the key pieces of the bill.
1. The Secretary, through Center for Disease Control and Prevention (CDC) shall establish and maintain a undiagnosed disease registry.
2. The Secretary shall include in the registry the information that they deem appropriate, relating to undiagnosed diseases.
3. The information will be public, but will not publicly disclose identifiable information or trade secrets.
4. There will be designated $5,000,000 for 2010 and may be needed for following years of 2011 through 2015.
5. The Health and Human Services shall see that it becomes operational no later than a year after enactment.

If you feel strongly about this bill you should voice your thoughts to your representative. You can find who your representative is and how to contact them by going to The United States House of Representative’s website at www.house.gov.

Bill would create national registry to track undiagnosed illnesses | News for Dallas, Texas | Dallas Morning News | Latest News

2009-08-31T22:50:00.002-04:00

Bill would create national registry to track undiagnosed illnesses News for Dallas, Texas Dallas Morning News Latest News

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Improving the Diagnostic Process

2009-03-05T09:47:00.004-05:00

I have come across many people with different perspective and in different fields expressing the need for improving the diagnostic process for those experiencing symptoms and have no diagnosis. There are differences in the way each are trying to improve the process. I see great potential in many of these ideas and efforts. Though in my opinion it isn’t just one of these that will make the changes we need to improve the diagnostic process for all those experiencing a difficult to diagnosis disease.

Many of the ideas and efforts stem from specific experiences or specific challenges that only make up a certain portion of getting a proper diagnosis. It would be beneficial to bring these experiences together to build a strong infrastructure that focuses on every piece of the diagnostic process. While I realize this would obviously be a task that would have great challenges, it is very much needed. Being a leader in an advocacy organization and a parent, I would like to see all these things come together today. But in reality I know this type of change would take time. I’m just grateful to see so many people thinking and working on the challenges of the diagnostic process.

There are many challenges faced by doctors and patients when dealing with a lack of diagnosis, a few are; matching signs and symptoms with a disease, connecting undiagnosed cases that are similar, connecting undiagnosed cases with the right doctor, and patients having multiple doctors who never discuss the case together. Below are some of the efforts I have come across and a summary of what I see as the focused challenge and what I see the challenges that may be encountered by the particular effort or idea.

POSSUM is used by doctors to aide them in making a diagnosis and get information on syndromes. They can type in a patient’s signs and symptoms and get potential diagnoses and then can follow a link to OMIM. This aides in the challenge of matching varied signs and symptoms with a diagnosis by allowing the search of multiple signs and symptoms. The difficulties are with the cost and the fact that not all doctors are using this. Another issue is it doesn’t have the capabilities of adding undiagnosed patient’s signs and symptoms to include in the database to run future searches. This is a great tool and certainly can aid in finding a diagnosis for patients.

Orphanet has a great internet tool that you can search multiple signs at one time to come up with possible diagnoses. This has the same challenge focus as POSSUM. There is no fee for use of this feature but doesn’t include pictures of various features that one may present with. This doesn’t allow for addition of undiagnosed cases as well.

MyDaughtersDNA in my understanding was created with the intention of having a place to post difficult to diagnosis cases and allow comments to be made with possible suggestions. So the focused challenge seems to be connecting cases with the right people who may have the information to help in fostering a diagnosis. The difficulty with this is getting the cases to be posted it is often parents or patients who are seeking out places to post their own case. They often don’t have the knowledge about how to best describe the case in a way that professionals will understand. Though the idea of having professionals post hard to diagnosis cases in the hopes of another professional with a similar case would see it, would be greatly beneficial.

Undiagnosed Disease Program brings multiple specialists in different fields together to discuss undiagnosed cases and potentially bring them to the Clinical Center of the NIH for a week of examinations and tests. The hope is to either find a diagnosis or to find new diseases. The focused challenge would be bringing multiple specialists together per case to aide in a diagnosis or new disease. A few issues are that it is only located in one area of the country and they can only accepted a limited number of cases per year. This is a new program so I’m certain we will see some growth in the years to come.

Hyoumanity is working on bringing awareness to situations that remain undiagnosed or misdiagnosed. They also want to create a product that will improve the process and leave less people undiagnosed and misdiagnosed. It isn’t yet clear to me what it is that their product will do, so I’m not sure what the focused challenge would be.

INOD has a very interesting concept of database by involving disease specific organizations in collecting signs and symptoms of members rather than medical references, which lists classic symptoms. The focused challenge is connecting signs and symptoms with diseases. The difficulty may be in getting enough involvement from a great deal of disease specific organization. It may also not be easy to find enough patients with any specific rare disease. Another challenge that may be faced is with having varied symptoms with the same diagnosis, there will be more symptoms with the specific disease which may cause more over lap. Over all this may be a good way to approach the challenge. They are also interested in see that a new specialty be created in the field of medical diagnosis. This would seem to aide in the challenge of connecting patients with the right doctor. There would be challenges in creating this as well.

SWAN USA is very interested in seeing some type of registry for those who have signs and symptoms without a diagnosis. We think of the cancer registry and how effective it is and see how such a system for undiagnosed patients could benefit everyone involved in the care of patients who are undiagnosed. The focused challenge would be connecting cases and likely linking patients with the right doctor. There would be many difficulties in getting this registry idea going, which brings me to the point of this post.

How can we make the most of all of these special projects or ideas? It would be greatly beneficial to bring the people, who are interested in making changes, together to discuss these types of ideas and efforts. Let’s talk about the challenges and difficulties and ultimately come up with a fabulous plan involving all of these things and maybe add a few to make the changes that we all desire. Instead of turning several small wheels, we can turn one very large wheel. Many individuals living with an undiagnosed disease need help sooner than later, coming together will make the most of our time.

I'm sure there are more efforts that are lingering around, these are the ones I have that have caught my eye in the years of searching.

Rare Disease Day

2009-02-03T11:02:00.004-05:00

People around the world will be observing Rare Disease Day on February 28th. This day of awareness started last year in Europe and quickly spread across the world bringing many countries to get involved for February 28th of 2009. In the United States the National Organization of Rare Disorders) is the main organization putting great focus on the day. Encouraging states to proclaim February 28th as the Rare Disease Day, they have been successful in 5 states. A new organization has become very involved with the Rare Disease Day; The Project, Children’s Rare Disease Network/. Bringing Change for Change to communities all over the country.

Great video to watch, created by a mom of twins who have a rare disease.

Just how does the undiagnosed community fit into the rare disease focus? Having an undiagnosed condition for an extended period of time should certainly be considered rare. Without a diagnosis you don’t have anyone to compare the situation to, making it seem like a one and only disease. It isn’t known just how many of those who are undiagnosed may have a common disease or a rare disease. It would seem as though a good percentage would end up being diagnosed with a rare disease. Many common diseases and rare diseases have estimated how many they believe are undiagnosed with that specific disease. It may be an interesting study to add up all the data from diseases that quote percentages of undiagnosed cases and see how many people are undiagnosed in the US or World. The period between having symptoms and getting a diagnosis would be the undiagnosed period. Though there is even a period before the symptoms are noticed which is also considered undiagnosed, maybe it should have a different name. So everyone who has a diagnosis had a period of being undiagnosed whether knowing or not. Then we have the term undiagnosable, how many years or how many doctor visits does one have to be undiagnosed for someone to use that term. Maybe we should consider defining this making it clear to everyone. For some this makes the line harder to see for considering whether undiagnosed conditions fit in the rare disease realm. I feel undiagnosed situations fit well in the rare disease category. That is why SWAN USA will be supporting the Rare Disease Day.

Sequencing Your Child's DNA

2009-01-18T22:11:00.004-05:00

Last week I came across a website and I was amazed that I hadn’t come across it before. I try hard to be on top of stories and information that could help children with undiagnosed conditions and this website had been out for over a year and half, how could I have missed it. The website was created by Dr. Hugh Rienhoff, whose daughter has an “unknown genetic syndrome”. There are so many different terms used for this common situation of not having a diagnosis for the signs and symptoms that are presented to us and the medical field. This might explain why I hadn’t come across it before, because of the different terminology.

Dr. Hugh Rienhoff, is a clinical geneticist who is sequencing his daughters DNA. His daughter, Beatrice is 5 years old now and his search hasn’t lead to a diagnosis or treatment yet, though he is still hopeful. Wouldn’t it be something to be able to sequence your own child’s DNA. He has many resources at the tips of his fingers, many of us aren’t so lucky in that sense. His story has been published in different magazines one of which was Nature and another will be in WIRED in February. These can be seen on the website http://www.mydaughtersdna.org/.

The intensions of the website are similar to what I had intended to happen with "Our Children" page of the SWAN USA website, and that is to have a place to post undiagnosed children’s cases, hoping that links and connections would be made. Those connections being doctors seeing a child’s situation that they may be able to make some helpful suggests that the families could take to their doctors or parents seeing similarities to their own child who may have a rare diagnosis. Over the 8 years that I have had children’s picture on our site with their signs and symptoms, it hasn’t proven to be greatly beneficial. It has however generated some e-mails of suggestions, though not as much as I had hoped for. Over the past couple of years I have come to the realization that posting information isn’t enough, it needs to be on a much bigger scale. We need some type centralized data collection that can be utilized by many and user friendly, allowing it much easier to make connections.

This thought brought me to contact and ultimately call Dr. Rienhoff about his website and my thoughts of wanting to see something bigger for connecting undiagnosed cases. I thought if anyone would have some suggestion on how this type of thing may be done, it might be him. After our conversation, I realized that though we both would like to help improve the diagnostic process for children we have a different light flashing in our heads. Dr. Rienhoff has a great focus on a project, triad transcriptome experiment, which is the mother, father and off spring’s DNA. I’m hopeful that at some point he may be interested in helping us further the mission of SWAN USA, by working together to make changes.

You may want to register at his site, I have, it is a little hard to figure out but may be worth it. I haven’t posted our personal situation about Lorna, but I’m thinking his site might generate more professionals because of the publications. Hugh was very kind in posting SWAN USA’s website, so we may see more visitors as well.

Medical Records, your copy!

2008-11-10T21:21:00.004-05:00

As I was gathering medical records to send to the NIH, I thought I would share with you some lessons I learned in doing so. First I should say get copies of records from each appointment, test and surgeries as they come up. It will save you a lot of time and frustration rather than doing it later. There will be many different times you may need to look at these records. I know firsthand the importance of getting reports, I was never told my daughter had a huge nasal polyp which ended up needed to be removed within a few weeks; instead I had to read it in a report and contact an ENT. I also found out that they often don’t keep records and films past seven years. So I was unable to get echocardiograms that showed the progress of her Atrial Septal Defect. I’m now missing many of her records, had I known that I may not be able to have access to them later I would have gotten them all much earlier. You may also get some attitude from the person in the office, while other times you will have no issues. Sometimes there is a rather big expense when requesting records and yet other times there won’t be any charge.

I will summarize to make it easier to refer to later.

Request that the reports be sent to you when they are being sent to the primary or referring physician. Then you will not be charged.
If you weren’t able to request them at the time of service, then be sure to request them sooner than later. Remember they may be discarded after seven years without notice.
It is your right to have access to your records and your child’s records, don’t let anyone make you feel like you don’t need the records.
If there is a rather large fee that you can’t afford, let them know you can’t afford it. If that doesn’t help don’t stop there contact the next higher up to see what can be done about it.

Children with undiagnosed medical conditions have a lot of records and it can be rather important for someone to be very organized with the records, especially when the child is seen by many doctors. This can be a rather time consuming task, but it could be much less if you start early. At the beginning all I had time to do is jot down the dates, specialty, doctor’s name, tests if any and a quick few words on treatments or outcomes. Which I kept in a folder, then later I typed it on the computer and added to it as needed. Eventually I was able to keep a folder with plastic sheets to add the records. I keep the records by date of appointment and just refer to the quick list to find them if needed, others may choose to keep them by specialty.

I will again summarize for easy reference.

Get started with something simple until you can get a hand on what will work best for you, which might change as you go along your journey.
Keep a quick log of past appointments so you can refer to them as needed. This will help when doctors ask when you have seen a certain doctor.
Get a 3 ring binder and plastic sheets to insert records as you get them. Organize by date, specialty or any other way that is best for you.

Here are some links for some print outs that may help you get started or make changes of what you already have. The link is from Children with Special Health Care needs and is called the Care Notebook. You can order a notebook or print out pages to make your own for free. Remember to start simple if it seems overwhelming. Choose something that best fits your situation such as; an appointment log, sick log or episode log.

http://www.cshcn.org/resources/CareNtbk.cfm#notebookprint

Motorcade, don't we wish

2008-11-01T10:12:00.005-04:00

As I was driving home from one of our many appointments, I was stopped in traffic by a police car blocking the road. I had heard that the president was coming to the area; I just didn’t know that it would be in my path. I began to think about the current president and the nominees for the future president. Which brought me to think about Sarah Palin and her baby who has Down Syndrome.

My mind wandered to a thought, how would a vice president be able to attend all the doctor’s visits that are often needed for children like ours or those with a diagnosis? An everyday average person like I, have no idea how this would work. Would there be a motorcade every time they attended a doctor visit? I picture this motorcade going down the highway and as they approach the building you see it surrounded by police officers. As this thought went through my head, it isn’t much different than what we wish it were for us. When we leave the hospital and our world is turned upside down, we wish the world would acknowledge our pain. Wouldn’t it be nice to have a motorcade to escort us home when we have just been given bleak news or spent several days in the hospital, letting the world know what we have just experienced. Only we experience the very opposite, the world continues as it did before. People walk past you and don’t even notice you. People drive by talking on their cell phones, not realizing the life of others.

Being aware of this feeling, sometimes as I’m driving down the road or walking down the street, I think about the families that may be in the hospital or who may have just lost a loved one. I then think of the people who are going past and what they may have experienced, that brings me to smile and say hi or hold the door open for someone. Just doing something simple to a person that may have been through something hard, may make their day just a little bright. And since we can’t see it on their forehead, we should treat everyone as so.

Our Hope

2008-10-23T22:27:00.004-04:00

As we were sitting in the ophthalmologist office the other day, while the doctor was finishing up writing in the chart, I asked that the reports be sent to me as well as the pediatrician. I went on to tell him that I was now collecting all reports as we go since we have had difficulties with gathering records to send to the NIH and I talked about the whole undiagnosed situation that he was well aware of. He went on, trying to choose his words carefully, about having too much hope for what a label could do and in the end the child will still be the same child. This was the perfect time to say, I’m well aware of how easy it is to get your hopes up and when a diagnosis is made, it may not be a fix or a cure. I then handed him a few brochures and asked him to hand them out to families in similar situations, he was very appreciative of the information.

As I was driving home I began to think about this brief conversation and how it was for us in the early years of being in the undiagnosed world. When we first learn that our children have some type of undiagnosed condition, we tend to search high and low for answers. We will do anything just to learn what is going on with our children, in hopes that we can do something about it. Whether it is a cure or just helping the situation, the question is how likely it is that there will be a cure or help when a diagnosis is made. In my knowledge, I don’t think anyone has an answer to that. When you are living it you want to think that the odds are in your favor and if you would just find the diagnosis everything will be alright. Though in reality, the end results may not be alright.

The outside world cannot seem to understand this hope that we have, and sometimes even we don’t understand what this hope is doing. Without knowing for sure what the outcome will bring we have to have hope that a diagnosis will help, but at the same time we need to be realistic that we may find out something that we didn’t want to know such as; the outcome isn’t good or there is no knowledge on that diagnosis. But even if that is the case, there can still be hope. Hope for research, hope of gaining more information and hope for being better prepared for what may come.

In my experience as my child gets older the hope of a diagnosis changing the outcome becomes less visible. I believe there is a natural progression of this hopefulness. This progression is unique to each one of us and our situations. We should allow this progression to occur just as it is meant to and never be made to feel bad for having too much hope or too little hope.