Beyond Achondroplasia

Growing together with Clara

Getting healthcare

The first steps on getting healthcare for Clara were harder to get than I imagined.

Before we had the confirmation of the diagnosis, that toke a month, I didn´t do any research on the topic, even with great possibilities to be achondroplasia. But the irrational hope tried to be stronger than the rational obvious…
During that time, her breathing concerned me enough. She had increased respiratory rate, even for a one month baby and she did several forced breathing.
I mentioned the breathing noises to the pediatrician, and I said that no secretion was coming out from her nose with saline flushing, but even so he told me to take her to the hospital for nasal aspiration. I went there two times. A nurse took her and I heard her crying far away from me… It was suggested to me that she would have the left nostril with stenosis, because the cannulae didn´t pass well in that side.
I took her to an ENT doctor and this doubt was dissipated, since there was no difference between the two nostrils. In turn, the doctor suggested that Clare would have congenital laryngomalacia.
And yet, I knew it was something else that was going on.

The result came.
We went to Lisbon, to St. Maria hospital, to  see the geneticist. She told us a few minutes later, after getting in her office, that she hadn´t the best news. Clara had achondroplasia.
My husband didn´t say a word. Just kept holding her in his arms whispering to her “Oh darling…”. I kept myself together and restrained deeply and asked about health issues what prevented me from start to cry. The doctor showed us the American guideline, mentioned the association of Small Lusitanians and gave us a letter for medical reference for Orthopedics in Hospital d. Estefânia, a pediatric hospital in Lisbon.

After leaving her office, we stopped a little in a deep embrace and our life resumed an imaginary zero and started again from there.

That night, I began my search. I read the guideline fully and saw what was necessary to do. It was clear at that moment for me that the priority would be to see a Pediatric Otolaryngologist because of apnea that had to be observed. I went to our pediatrician and I asked him to write urgent referral letter to ENT, naming the genetic condition Clara had to make it more obvious. The pediatrician did that request through the Espírito Santo Hospital in Évora, where Clara was born and where we live.
However, one week later, we received a letter from Estefânia Hospital saying that our request had been turned down for being “Out of area”.

What??? How???
And then I realized that this path wouldn’t be that easy to take.

Unfortunately we had to use family acquaintance in the medical group to get Clara seen by a Pediatric Otolaryngologist in Estefânia Hospital. We are lucky to have family that helped us, but I wonder if we didn´t . . . what would be today like?
The ENT Clinical Director indicated to an intern doctor to see Clara the day after.
When we got into her office, she wasn´t kind with us. I believe that was because that doctor is a person and prefer to refuse “getting people in with privileges”. The first thing I heard from her was that she was seeing Clara only because her director told her to, and that it is unsustainable for the system this kind of actions and that the hospital cannot entail costs and responsibility for other hospitals.
After hearing all, I finally spoke. I said that Clara had achondroplasia, which must be followed in a central pediatric hospital and that according to the Pediatric guideline, she must be followed in ENT along with other specialties. I took copy of the guideline.
The doctor did a high nasal endoscopy and as I watched the images on the monitor, the doctor was getting progressively more aware of the changed condition of the respiratory anatomy Clara had. I saw an 180º change in the ENT doctor attitude. She gave us her personal contacts and started the protocol to referer Clara to the suggested specialties in hospital. This doctor has been very helpful and attentive to Clara needs. We thank her very much all she has done!

I suggested that Clara had to do a polysomnography (sleep study). She did that at 2 and a half months. We spent the night in Lisbon, in the house of a relative, and Clara slept 8 hours in a row with a device on top of the chest. She looked like a baby bomb! She seemed to had an incredibly restful sleep and woke up with a wide smile as in almost every day!
The result came a week after .
I was very alarmed: that night she stopped breathing an average of 15 times per hour. And the longer stop was  58 seconds with a 68% oximetry. How is it that she restarted to breathe, I still wonder.

After that, the ENT doctor referred Clara to a penumonologist doctor and we were told that she would have to have assisted ventilation, or through a tracheostomy or CPAP (continuous positive air pressure), but that most children don´t adapt to the CPAP. She was hospitalized one night in a special unit, to try the CPAP.
Initially the nurses put the mask with ventilation (that didn´t adapted well to her nose because even being a pediatric mask, it was to big for her) while Clara was still awake and she fought a lot with that. It seemed that she was suffocating.

It was very difficult to cope with the despair of it. It was complicated not to take the mask off from face and go back home for her not to suffer more… It was very hard.
But then she slept from exhaustion and during the night, she used the mask. She was being monitored with an pulseoximeter, that helped me to see that everything was okay.

Using CPAP and oximeter while sleeping in her crib

Using CPAP and oximeter while sleeping in her crib

Now, she uses every night the pulseoximeter sensor and the machine is working all night and if her oxygen drops under 90%, the machine gives an alarm. And it´s loud! We just put her the CPAP mask when she is deeply sleeping.  Usually 30 minutes after she goes to her crib. By then, she doesn´t notice the strong ventilation and she keeps on sleeping.

Meanwhile, she has done another polysomnography while using the CPAP and the results were much better.
She did an CAT scan to her head too, for the neurosurgery doctor. It looked that her cervical cranial junction was and is stable but both medial ears were filled. So she has an otitis media. Now she will do an MRI.
Last week she did audiometry studies and her results were quite good. Even so, she doesn´t hear completely well, and she has schedule to put ear tubes.

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