Medical History- Just Bring the Chocolate

Background

We are always looking for other children like Dominic. Dominic currently has no unifying diagnosis, which means that we can’t ever really answer the question, ‘what’s wrong with him?’, unless you’ve got long enough to listen to the extensive list below. It can, of course, be very awkward when trying to fill in forms that give you one small box to write your child’s condition in, and trust me, I come across a lot of those, but really the hardest part of having no diagnosis when you have a medically fragile and complex child is the unknown. I have no idea what to expect, what the significance of each illness or issue might be and what the future might hold. It can be frustrating, maddening, terrifying and devastating, and you really are stumbling in the dark for a lot of the time, but because the question mark continues to hang over you, there can’t be any closure, or moving on. I’m not sure what cards I’ve been handed yet, but that doesn’t mean that I haven’t found a certain peace in not knowing, instead of staring into the void, I instead search for other parents asking the same questions that I am, in the same situation I find myself in, and that is why, if you look down this page, you’ll see a comprehensive list of the general things that are issues for Dominic. If you find this list because you are searching for answers for your own child, think about contacting me, I’d love to say hello and I might be able to point you in the direction of other families too. There are people who know how you’re feeling.

I have great plans to change what having an undiagnosed child means to families, and when I am not hanging about on Just Bring the Chocolate I can be found over at SWAN UK working on promoting better understanding of the impact of having no diagnosis has on families. These are families who are often forgotten, unable to access local resources and services offered to disabled children, no charities to support them, no parents to say ‘I know exactly what you mean’ and no bookshelf to turn to to find out what the future might hold. Support should not have to start with a diagnosis, and families shouldn’t get lost in the system when the system runs out of technology to diagnose them. There is no government funding to help, but doesn’t stop us making as many steps as we can towards educating doctors, teachers, local authorities and even the government to recognised that just because a child doesn’t have a label, it doesn’t make them invisible.

I have thrown open the door on our family life to try to demystify what life is like living with children with special needs and/or medical conditions, including sharing some of the medical conditions that Dominic has been diagnosed with. I am of course, not a medical professional, and what you read on these pages are our version of winging it… after all when there is no handbook, what else can you do? Please make decisions about your own family in consultation with your own doctors.

I hope you will take away with you a sense of just how human we are however alien our situation may seem to people sometimes. We are just as stupid, silly, remarkable, quirky, chaotic, flawed, scared and hopeful as any other family out there. We are also very optimistic. We may not be able to change the hand that our children were dealt, but we can change the world our children are growing up in and make sure that all families receive the information and support that they need to enjoy their family life. If you want proof that one person can make a difference, have a look at this – The World’s First Nurse for Undiagnosed Children

Diagnoses to date

Muscles
Generalised muscle hypotonia, hypermobility and weakness	Particularly axially. Some improvement seen after growth hormone replacement therapy started just like these natural testosterone supplement options.
Delayed motor development	Wheelchair dependent as a result of the above.
Significant fatigue
Truncal hypotonia and thoracic kyphosis	Spinal brace/lycra jackets have been tried, but deemed unsuitable because of feeding tubes. Supportive seating now relied upon
Abnormal stimulation single-fibre EMG	Performed under general anaesthetic
No diagnostic features on two previous muscle biopsies; no evidence of mitochondropathy
(?) Congenital myasthenic syndrome	(RAPSN and DoK7 genetics negative)

Bones
Bilateral coxa valga	Long bones are equal in length, knees in alignment
Acetabuli are shallow	On the right there is uncovering of the lateral 3rd of the femoral capital epiphysis, on the left there is an uncovering of the lateral half of the femoral capital epiphysis
Bones appeared osteopenic This very quickly deteriorated and osteoporosis was diagnosed	Grown hormone started in an attempt to reverse the osteoporosis

Gastro-oesophageal
Severe gastro-oesophageal reflux disease.	2 x Nissen’s fundoplication
Neuropathic intestinal dysmotility with large gastric losses.	Jejunal tube feeds, stomach on free drainage. Tolerating some oral feeding, although tolerance varies on a daily basis
Bulbar dysfunction with silent aspiration of fluids.	ARDs survivor
Unspecific inflammation of the colon	Thought to be related to food intolerance. Prescribed sulphasalazineSlow introduction to food groups previously not tolerated.
Chronic abdominal pain	Associated with roux en-y jejunostomy surgery in 2010. Two further operations in 2010 and 2011 for suspected bowel twisting around the limb. Pain returned adhesions removed, pain remains, suspected intussusception.Further surgery for a fistula. Treatment for an infection has reduced the chronic pain.

Endocrine
Anterior pituitary hypoplasia.
Anterior pituitary dysfunction
Biochemical hypothyroidism.	On thyroxine
Growth hormone insufficiency	Growth Hormone peak on glucagon 8.2, low peaks on growth hormone profile. On growth hormone replacement therapy.
Hypoglycaemic episodes	This is much better controlled now Dominic is eating some carbohydrates orally.
Temperature regulation difficulties (thought to be a central issue)