Version anglaise

Hi, it’s Romy here !

It’s time to explain the purpose of my association and this Facebook page. Almost against our wishes, a friend who is very touched by our story brought us, my parents and me, into this adventure. But with no regrets! It was a difficult choice to make, as we all hoped I would get better by myself, but after 3 years of waiting, we are impatient to know why I am sick.

I am a little girl like any other, except that I am fed artificially because of a digestive malfunction, but none of the doctors at the Necker hospital for sick children in Paris have been able to find out the cause. In fact my nickname there is ‘the little enigma’!

Unlike many other sick friends, who I care about very much, I am able to walk and run, when I am not hooked up to a feeding drip. I have a centrally placed parenteral tube feed every night for 13 hours and also an enteral nasal-gastric tube during 2 consecutive hours, twice per day.

My life, as well as that of my family is governed by medical treatments, day and night. It’s tiring and binding, but makes me happy! Since leaving the Necker hospital at the age of 7 months, I’ve been able to discover my home, and to really get to know my big sister Emilia, who was quietly dreaming of being able to give me a big hug. Since being at home, I have made good progress, as before I was hooked up to a drip 24/7 until I was 26 month old. Little by little, I have been able to be unplugged, without having episodes of hypoglycemia. However, I cannot be unplugged for more than 11 hours per day.

Today, aged 3, I still eat nothing by mouth. I have no desire to eat as I have no sensation of hunger, and also because I am afraid. Over time I have developed several oral problems, which are not taken care of at the hospital alas, and so I don’t talk. I try to produce sounds, but when I began walking, I became deaf, and no-one knows why.

Recently, since mid-September, we have been doing trials with enteral feeding, to determine whether I can tolerate to be fed naturally.

Genetic testing has excluded certain rare digestive conditions and research is ongoing, but proceeds so slowly, too slowly, and consequently has revealed no answers so far.

I am still not able to attend school, the creche or kindergarten, and do not go out, apart from appointments at the speech therapist, physiotherapist or other visits for fittings for hearing aids etc. Even then, this is only if I’m sure that none of these people have colds or illnesses, as I’m very vulnerable to viruses because of my central catheter.

The next step for me would be to be fitted with a gastric ‘switch’, as this is more comfortable than the nasal-gastric tube. The aim, is to get closer to a more natural form of feeding, as all my nourishment is currently administered intravenously, meaning that my stomach is always empty. It is becoming urgent to put less stress on my digestive and hepatic functions. Our other aim is to begin to ‘train’ my intestines to start absorbing.

And then ? My parents are anxious about my future, without a diagnostic or prognosis. Having nowhere else to turn, we need your help to spread my story far and wide, and find another ‘enigma’ like me. I am a rare species, but hope to come across another case like mine, and find my ‘twin’ out here somewhere!

With all my love,

Romy

This appeal is to the parents, family or close friends of a child who suffers from the same condition as our daughter, Romy. If, like we are, you are wandering blindly in a diagnostic dessert, with a child suffering from the same kind of digestive problems as our daughter, then please get in contact.

She has severe dehydration due to abundant watery diarrhea, which is not helped by digestive rest. She also has permanently dry, chapped lips. Romy also suffers from unexplained severe stage 2 deafness.

The following conditions have already been excluded from the diagnosis: microvillous atrophy, intestinal epithelial dysplasia, short bowel syndrome, coeliaque disease, P.O.I.C. syndrome, Hirschprung disease, syndromic diarrhea, ulcerative colitis and Crohn’s disease, MICI, etc).

In the hope of receiving a response from you very soon.

P.S.: May I remind you that I do not have microvilli atrophy

Romy