Beyond Achondroplasia

Growing together with Clara

The begining story

Clara is our second child.

Clara was a desired and planned baby. I had a healthy pregnancy, followed by two doctors: a general practitioner and obstetrician. I had 3 ultrasonographs: in the first, second and third trimester and did several blood tests.

First ultrasonography

First ultrasonography

Third trimester ultrasonography

Third trimester ultrasonography

Everything was always okay. She was born in the early hours of the 31st August 2012. I had an epidural when I was 4 cm dilated and it was a natural childbirth after 4 hours of active labor. She had 2930 g, 46.5 cm long and 36 cm head perimeter ( 6 pounds, 18.1 inches long and 14 inches head perimeter).

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First photo!

We both felt full of joy and happiness! In her first hours of life,  everything seemed to be going well, but at the same time, something was strange. I admired closely the baby that we had expected for 9 months. I remember looking at her when my husband held her in his arms. And I noticed her hands: long fingers but very wide open. Hum… strange. She was so tiny! Her closes didn´t fit her well. The sleeves and legs had leftovers. In the second night, while looking at her gently sleeping on my bed, I stopped for minute and stretched her arms along her body. And her hands didn´t reach her legs. I measured my arms and they did reach my thighs. I wondered…But at the same time, nothing was or could be strange. I was happy and tired too. She was a very quiet baby and had a very good appetite.

On the 3 days we stayed in the hospital maternity, Clara was seen by 3 pediatricians. A few hours of going home, the third doctor came to discharge her from the hospital. The doctor began to observe her, extended her arms and after some seconds of silence she said: ” This child has short limbs”. At that moment, I really didn´t thought that something could in fact be wrong. That doctor did a transfontanellar ultrasound (through an open space of her skull) and said that she was okay. And said that Clara should have to have follow-up. I started to put all the things that I noticed and the doctor comments together… My heart started to break…

A strange sadness cross our days and we just could not enjoy every single moment with Clara without thinking that something could be tremendously wrong.

Her first morning

Her first morning

Two days after, we went to her pediatrician and told him what happened. He didn´t notice anything strange until we mentioned about the hospital pediatrician suspicions. He advised us to see a geneticist. One week later we went to Lisbon for an appointment with a geneticist. At first the doctor said: “What are these parents doing here with this beautiful baby?!”. After several minutes talking about what happened, Clara was once again over an observation table. I was about to stop my heart from beating at that point, when the doctor started “dissecting and cutting” piece by piece all my hope saying: “Rizomelic shortening, trident hands, frontal prominence, small nose…”. The doctor ended saying that Clara had a skeletal dysplasia, but it probably could be hypochondroplasia and for that, be a minor problem. Or it could be achondroplasia. 50-50 chance. She had to do exams. I stopped breathing in that moment. I felt destroyed inside… Couldn´t believe that was happening. My beautiful baby girl had a rare condition…

Few days after, Clara had her first complete skeletal x-ray and a blood sample was taken from her for a genetic test.

During the time without the genetic test result, I refused to search anything related to achondroplasia. Those days were lived in a limbo. We weren´t living those moments with our new-born child as planned.
We waited 1 month until the diagnosis came.

Less that one month after our world toke a flight trip to an unexpected and scary place: Clara has achondroplasia.

The end of a story and the beginning of a new one. Achondroplasia, a new word, unknown. A new meaning for our lives.

Our journey started, unexpected, without our dream destiny but now with an expected dream as destination.

Clara is a baby, as all babies. She sleeps and eats very well, laughs and smiles at every novelty or play. She stops and stare her lovely brother, that in a moment is kissing her and telling her stories, as he pulls out her toys “because she no longer wants to play more with this one”!

Well, we hope to be able to help and enlighten you about the life of a baby with achondroplasia and about the life of a family to whom achondroplasia visited.

4 Comments

  1. Pingback: Sulista, Elitista e Liberal » Blog Archive » Growing together with Clara – The begining story

  2. god bless you all and take care

  3. I can relate to you very much. Same happened for me with my 2nd child. I wanted to know if you ever really got over it. I still see myself having a hard time deing with it. Just the other day someone was saying how small her legs are and how my oldest wasn’t small like that. I find your site very knowledgable and I appreciate you updating with treatment plans. I hope they do come out with one soon. I still feel very heart broken. My daughter is now 9 months old.

  4. Very close to your story and me! In 2014, I gave birth to a daughter Vanessa, remember what horror was to know that she has achondroplasia. She is now 3 years, wonderful, charming, strong, smart, intelligent girl. We so love her and happy, even funny, that someone this diagnosis can cause fear. Thank God for our children! But the medicine we will wait for the results of the confrontation of this diagnosis.

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