Wednesday, 4 November 2015

November 2-4, 2015

Monday started like any other day with Anna. I gave her a good snuggle and was enjoying a visit with my sister as well. We were waiting for the "team" to make their rounds to see what the plan for Anna would be for the next few days. She was doing very well on CPAP with minimum support and was wide eyed all morning. She had another ECHO done to see if her PDA had changed at all.
They were going over her recent test results when it was noticed that the micro-array (genetic testing) had come back. At that moment the geneticist also called up to come bring us the results that we had waited 8 long weeks for. 

Our little Miss Anna has Cri du Chat syndrome.

Cri du chat, pronounced, syndrome is French for “cry of the cat.” The syndrome is typically diagnosed in infants who characteristically have a high-pitched, “cat-like” cry. Anna's cry is so quiet that it does not fit in with the characteristic cry.Other common characteristics include: round face, wide-spread eyes (hypertelorism), extra fold of skin in the corners of the eyes (epicanthal folds), a flattened and widened nasal bridge, low set ears, and a single crease (simian crease) on the palms of the hands. These individuals tend to have cognitive, gross and fine motor delays. Speech and language delays are also typically one of the main characteristics of the syndrome. Although children with Cri du chat syndrome are able to understand much more than they can express. Cri du chat syndrome occurs when there is a loss of genes on the short arm (or “p” portion) of the 5th chromosome. It is one of the most common known deletion syndromes although it only affects about 1 in 35,000 to 50,000 live births.

God has given us this gift that we did not expect, but he knows Anna fully and completely. He formed her and knew her in my womb. We have so many questions about what the future will bring; and He knows the answers but we do not. On our own, we feel so unequipped to take on this task of raising little Anna, so we must rely heavily on the Lord to provide all that we need.

On Tuesday, Ryan and I had another meeting with the geneticist to discuss any questions we had and learn a little more about Cri du Chat. We also, of course, got our snuggles in with Anna :)  

Anna started another trial off CPAP on Wednesday morning. She again showed quickly that she was working to breath, so they decided to try her on high flow. Unfortunately she had some apneic moments, where she stopped breathing and needed stimulation and oxygen to get her breathing again. So for now she is back on CPAP and they are trying to wean the peep on the CPAP very slowly to see if that works. Knowing her diagnosis now - we know even more that even little things may take Anna extra time to learn. 


Please continue to pray for this beautiful covenant child as she will have many challenges to work through. Pray that we can embrace this challenge and be provided with all that we need.

I knew you before I formed you in your mother's womb. Before you were born I set you apart.
Jeremiah 1:5



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2 comments:

  1. witnessingAmiracle6 November 2015 at 06:35

    Praying for your family, your daughter is beautiful <3

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  2. Els10 November 2015 at 09:24

    Dear Ryan and Lorissa,
    Praying for you all as you continue to care for sweet Anna and the rest of your children, and also now as you deal with the shifting landscape of Future, as you wrestle with times of grief and discouragement--and may God graciously and tenderly carry you through those dark moments. May you continue to be confident that our gracious God who has all of life in the palm of his hands, holds also your dear little girl and all of you--your extended families and your friends--in His loving and faithful hands.
    Such a powerfully comforting verse you've closed out with. And indeed, God has known all of us, even before we were born. And he knows the plans He has for Anna; for all of us. He is indeed gracious, and will give you everything you need in its time. I know I was struck by this every time I'd read any of your updates; it's beautiful how well you've taken on so much of the medical knowledge necessary to care for Anna--things you'd never think of being so intimately familiar with even half a year ago or when you first knew of new life's first stirrings--and you have been given everything you have needed.
    So thankful, too, for the incredible gift that God has given us of each other in the communion of saints; that He's put all of us on this path of life that we may also be there for each other.

    In Christian love, compassion, and prayer,
    Elsa

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