Rare Disease and Families

Today is Rare Disease Day and its purpose is to raise awareness about rare diseases and how they impact people’s lives. http://www.rarediseaseday.org/article/what-is-rare-disease-day  FPIES is considered a rare disease and sadly there is little research being done to learn about it. Since this disease and many others are misunderstood and follow a constellation of symptoms that vary from child to child there seems to be a terrible trend happening with diseases like FPIES, EoE, Mast Cell and Mitochondrial Disease.  Parents who are saying no to “standard” treatments like an endoscopy, steroid use and a delayed vaccination schedule are being looked at as “medically endangering” their child. Sometimes state child protective services are being called in to investigate the health and wellbeing of the child. I am a veteran social worker, I carry the highest licensure possible in my state and I know how this works.  There is a need to protect children and families from abuse and neglect and there is certainly and illness that is real called Munchausen by proxy syndrome (MBPS) however it too is rare.  I can’t tell you how many FPIES parents are or have been investigated by CPS because their children are FTT (Failure to Thrive) or can only eat a handful of foods or who can only handle pureed foods at age 3 because of oral aversions or because they say no to medical tests that require sedation and those results may or may not impact current treatment planning. Parents are being accused of making up or exaggerating the symptoms or reactions of their child or children. Our beautiful boy has FPIES, our family knows exactly what it’s like to live it 24/7/365 and our doctors don’t.  They don’t see the neurological side effects our son has or the vomiting to a state of shock he has, the lethargy, allergy shiners, slap cheeks and the list goes on. Don’t get me wrong we have a wonderful team of specialists that Jack sees and they have been supportive and very helpful.  It appears at least for now we are in the minority and this really isn’t the case for many families dealing with FPIES and other rare diseases. 

Dealing with a child who has a rare disease is incredibly lonely and scary.  With FPIES, simple things bring fear and anxiety.  New food trialing with Jack leaves the whole family walking on egg shells.  Jack is doing beautifully now as far as eye contact and socializing.  He is playing well and interacting more with his twin brother.  He is seeking us out for comfort and his smile; it is luminous and melts our hearts. He is laughing and giggling like crazy! There is no diarrhea, no vomiting, no lethargy, allergy shiners or slap cheeks. He’s happy and content most of the time.  Can you blame us for not wanting to trial anymore foods for a LONG, LONG time? Not wanting to gamble and risk sickening our child by giving him say a banana or pork or broccoli? Yet the pressure is there to add more foods to his diet from his doctors.  Why are the doctor’s opinions more valid than ours as the parents? We know our baby; we know what happens when he fails a food and it’s horrendous.  What is the rush to add more food to his diet? He’s got oral aversions so we are desperately trying to work on increasing texture too. Does it really matter if he eats peaches before he’s two? 

We are thrilled with our GI and Allergist and they partner with us but I still feel the pressure to increase the number of foods in his diet. I am not sure how much of this is real or imagined. I do know that when we visit them in a few weeks we may or may not have a new food pass from the last visit we had.  Jack’s stomach flu thwarted our pear trial.  We hope to pick back up the beginning of next week again.  Doctors and parents need to work together and listen to one another. It’s a partnership and one side is not more dominant than the other however the final decision always goes to the parents. This is about the best interest of the child, it’s not about ego or protocol, and it’s a case by case basis, what works for Jack may or may not work for the next patient.  I hope whatever is happening with rare diseases, doctors, parents and CPS ends soon.  These investigations are causing undue trauma, stress and anxiety. Do doctors need to be mindful of MBPS, yes of course but the number of reports to CPS is disproportionately high as far as I can tell in families where rare diseases exist. CPS needs to focus their time and attention where it is most needed, with kids and families who are dealing with sexual abuse, physical, mental abuse, domestic violence and neglect (among many other things.) For the most part (because nothing is ever 100%) families living with rare diseases are just trying to do the right thing with no road map, and no framework to go by to keep their child safe, healthy and pain free.