My Worm

In 1875, Charles Darwin described a peculiar disorder that appeared in each generation of one family’s male members, affecting some, sparing others. The mysterious condition became apparent in the very young, manifesting itself with “…small and weak incisor teeth…very little hair on the body…excessive dryness of the skin…”

128 years later my husband and I discovered these same symptoms and a few more in our son. After just over a year of trying to understand our newborn, who cried and screamed when swaddled, went limp in our arms on a warm day, grew his first pointy tooth at 15 months old and slept like an angel when stone cold, we finally found out he belongs to an 1 in 100,000 group.

Hypohidrotic Ectodermal Dysplasia affects one boy child in every 100,000 births. It is so rare that it only rates a paragraph about three centimetres thick in our paediatrician’s medical tome.

We learned most of the details about Ectodermal Dysplasia from researching it ourselves on the Internet. After seeing so many, often confusing explanations, I decided to come up with a simple way to explain it to my children. I found two ways. One came to me by talking to my eldest Sebastian. His innocent view of himself inspired my booklet, “I have HED”. Hypohidrotic Ectodermal Dysplasia from the point of view of a 5 year old. The other was apples and bananas.

Women are made with two X chromosomes, men are made with one X inherited from their mother and one Y chromosome inherited from their father. For ease of understanding, X = Apple and Y= Banana.

So it came that in 2003 I was told “Mrs Kelly, you have a worm in one of your apples and you passed it on to both your sons”. My worm is the reason my boys have pointy teeth, no sweat, white fluffy hair and thin skin.

Two years later, I gave birth to twins. My little girl came into this world with a shock of black hair and pink skin. My son however was pale white and had very little hair at all. She does not appear to have Hypohidrotic Ectodermal Dysplasia, he definitely does.

So, let me explain how my worm was passed on to all 3 of my boys.

I have two apples, one of my apples has a worm in it but, but the symptoms of damage were masked by my normal apple. Every child I have has a 50/50 chance of being given the apple with the worm.

There is a genetic test to find the worm but ours didn’t show up at the most common address and remains unfound to this day. As a consequence this will also leave the question of where it began in our family unanswered. Effectively that means we may well be an, as yet, unclassified variety of the 170 variations of Ectodermal Dysplasia which have been identified to date.

When my husband handed over one of his bananas to make each of our boys, he counted on me to hand over an apple to make them whole. I lucked out and gave them the apple with the worm, which, in turn gave them Hypohidrotic Ectodermal Dysplasia.

The only way Sebastian, Matthew and Nathanael will avoid passing the wormy apple to their future children, is to have their embryos screened for gender. If they have only sons, the faulty gene in our family will end with their generation. If however, they want to leave it to chance, every daughter they have, will be a carrier of the apple with the worm.

The worm is a malfunction in the Ectoderm. This is what forms the Skin, Hair, Teeth, Sweat glands and Nails. Even in my three boys the effects of the malfunction varies. For example, Sebastian’s skin seems problem free but Matthew and Nathanael are plagued by severe eczema.

As for teeth, they had become a bit of a competition between my older boys.

Sebastian has 8 teeth. Matthew, who is 15 months younger and has 9 teeth, maintains that the extra tooth makes him the eldest. They won’t get any more teeth, the average is 6 to 9.

Sebastian and Matthew are fiercely proud of their ‘shark teeth’. In January 2007 however, Sebastian agreed to have his four front teeth capped to protect the tips. He’d had a mishap where one of his precious shark teeth had the tip snapped off. He has the tip to this day, locked secure in his toy safe so the tooth fairy won’t take it. 

Matthew has also had an accident and ripped his tooth out by the root. Even through the misery of losing the tooth, he was very happy he would finally have a visit from the tooth fairy. She had to do a quick calculation of tooth to $1 ratio and decided that a $2 coin would not put her out of pocket.

Sebastian and Matthew have also had Dentures for the top jaw. We wanted to see if they would help the boys with their peers and also to see if it will help the bones to grow into a ‘normal’ jaw line.

The Educator magazine we receive from the American support group has stated that dentures won’t necessarily prevent the loss of bone density in the jaw. It quoted research where it proved conclusively that the bone in the jaw is totally reliant on the presence of teeth. The study involved elderly people and other ages where teeth were either lost or pulled for medical reasons. The bones in their jaw were re absorbed into the body to leave them with only the minimum bone required for function.

That is one reason we aren’t pursuing dentures anymore. Another reason is the distance and time it took to travel to a paediatric dental specialist at the Coffs Harbour outreach clinic. The mould would be made and by the time the denture got fitted at the next appointment the mouth would have grown a bit. The denture ended up being a wobbly fit. Would you wear that?

The tooth fairy was also a very relieved customer, when the boys grew out of their dentures and had them replaced, guess where the dentures went? Straight under the pillow. Too right! They are teeth, all be it made of plastic. She had to hand over money for ten teeth in one hit. I am just glad we were able to give her advance warning.

So once the boys are old enough we will look into the dental implant options available, but for now my priority is trying to find the one ‘magic potion’ to help with eczema.

Eczema has as yet not been officially linked to Ectodermal Dysplasia, however given the frequency and severity with which it shows up in ED children we strongly suspect it belongs.

We have two bookshelves worth of creams and lotions, pills and powders, liquids and oils. All of which can be taken or applied to this and that, but without the patients consent, cannot be tested. But that’s a whole other lot of research and a whole other story!

I won’t say the last 7 and a bit years have been a walk in the park, but neither have they been filled with unmentionable hardship. I am always asked if I would change anything, well…

I would change Matthew and Nathanael’s eczema in a heartbeat.

But I would NEVER change my family!



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