Confused and frustrated about genetics rant/vent — Scope | Disability forum
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Confused and frustrated about genetics rant/vent

KSchall
KSchall Member Posts: 18 Courageous
My son is 13 months old, had been diagnosed with mild hie at birth, along with both hyper/hypotonia and myelnation delay. He is currently behind on speech development but we see speech therapy for an evaluation at the end of the month. We did have some concerns about cerebral palsy but that is largely a non issue. He also has Macrocephaly ( 52 cm ) at 13 months. Seen genetics yesterday and they are ordering a Macrocephaly panel. I was told he has 4 deviation in head size and they have numerous concerns but I’m sitting there trying to wrap my head around this and I’m more confused and lost with every attempt to explain. I’m beyond my element with genetics and I guess I’m just venting. I can’t find much on Macrocephaly, apparently it’s rare to be 4th deviation so I’m just lost and venting and just want to sit and cry of all the silly things. Sorry for the long ramble

Comments

  • Antonia_Alumni
    Antonia_Alumni Scope alumni Posts: 1,781 Pioneering
    edited June 2019
    Welcome to community @KSchall :)

    I am sorry to hear this, a lot of our parent carers, will be able to relate to you. It's not an easy journey to go through with your child, when they have been diagnosed. We are all here to support you, so you can vent as much as you want.

    There's some information on Macrocephaly, that you may find useful.

    How are you doing at the moment?
  • [Deleted User]
    [Deleted User] Posts: 0 Courageous
    Hi @KSchall

    It sounds as if you're going through an overwhelming time at the moment and have a lot of things to process. I've included a few links to possible support or further information on genetic conditions, including Macrocephaly which may be helpful.

    https://www.geneticdisordersuk.org/parentsofaffectedchildren - They have a helpline that may be useful to contact and further information on their website.

    https://contact.org.uk/medical-information/conditions/ - This is a directory of a range of different conditions and disabilities that may give you more information.

    Scope also has the Navigate service, which provides a 6 week course of emotional and practical support for parents that have recently received a diagnosis of impairment (within 12 months). It provides parents with a safe space to talk about how their feeling and discuss steps forward. If you feel this may be something you would benefit from you can make a self referral at - 
    https://www.scope.org.uk/family-services/navigate/

    I hope these links help x
  • April2018mom
    April2018mom Posts: 2,868 Connected
    How are you feeling today? Are you seeing a therapist or not? When the kids were babies I saw a therapist for a while it helped me. I was able to safely discuss everything. Online support groups are also a good source of comfort and support as well. 
  • KSchall
    KSchall Member Posts: 18 Courageous
    Thanks for the responses and links it’s appreciated.

    Very frustrating trying to find detailed information. I looked at the notes again and while I understand for example what his deviation Is at 4.3 ( very few children are similar ) but what does it mean for his overall health in the short and long term.

    Thats what’s driving me crazy is the long testing process, if we get approved for the Macrocephaly panel it’s 8-10 weeks to get results. 
  • Chloe_Scope
    Chloe_Scope Scope Posts: 10,557 Disability Gamechanger
    Hi @KSchall, I'm not surprised it's frustrating and I can imagine you are just searching for answered and reassurance at this time. I know the community might not be able to give you these but I hope you find our support beneficial. We may not be able to fully relate to your own circumstances but as a collective of like-minded individuals we can be there regardless of what is going on.
    Scope

  • mikehughescq
    mikehughescq Posts: 8,847 Connected
    The medical profession has a long history of giving out a diagnosis and then effectively walking away. However, you’ve seen what sounds like a geneticist and they’re normally really good explaining so I size them you’re at a very early stage and effectively in shock so ask for genetic counselling. Genetics teams have genetic counsellors and they will gently walk you through it with plain English explanations. They can also attend your clinical appointments with you in some circumstances. 
  • KSchall
    KSchall Member Posts: 18 Courageous
    Small update.

    we was able to get the macrocephaly panel done and received the results this week.

    Results turned up normal except for a minor anomaly they are not concerned about.

    his head is still at 4 deviations, still no words and barely babbles at 15 months of age so we still have a ways to go.
  • April2018mom
    April2018mom Posts: 2,868 Connected
    KSchall said:
    Small update.

    we was able to get the macrocephaly panel done and received the results this week.

    Results turned up normal except for a minor anomaly they are not concerned about.

    his head is still at 4 deviations, still no words and barely babbles at 15 months of age so we still have a ways to go.
    Thanks for the update. Have you seen a speech therapist or not? Ask your GP to refer you. 
  • KSchall
    KSchall Member Posts: 18 Courageous
    KSchall said:
    Small update.

    we was able to get the macrocephaly panel done and received the results this week.

    Results turned up normal except for a minor anomaly they are not concerned about.

    his head is still at 4 deviations, still no words and barely babbles at 15 months of age so we still have a ways to go.
    Thanks for the update. Have you seen a speech therapist or not? Ask your GP to refer you. 
    We had him evaluated for speech about 3 weeks ago, and are in the process of trying to get speech therapy scheduled. He also has an adenectomy in 2 weeks because of breathing issues at night so they might be waiting to see how he's doing after that.
  • April2018mom
    April2018mom Posts: 2,868 Connected
    KSchall said:
    KSchall said:
    Small update.

    we was able to get the macrocephaly panel done and received the results this week.

    Results turned up normal except for a minor anomaly they are not concerned about.

    his head is still at 4 deviations, still no words and barely babbles at 15 months of age so we still have a ways to go.
    Thanks for the update. Have you seen a speech therapist or not? Ask your GP to refer you. 
    We had him evaluated for speech about 3 weeks ago, and are in the process of trying to get speech therapy scheduled. He also has an adenectomy in 2 weeks because of breathing issues at night so they might be waiting to see how he's doing after that.
    Also ask for a sleep study to rule out or confirm breathing issues like OSA or CSA (sleep apnea). 
  • Adrian_Scope
    Adrian_Scope Posts: 8,572

    Scope community team

    Thanks for keeping us updated @KSchall. I hope the adenectomy goes well.
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  • Chloe_Scope
    Chloe_Scope Scope Posts: 10,557 Disability Gamechanger
    Hi @KSchall, thank you updating us!

    I'm glad the results came back normal, but I can understand why you'd want answers.

    I hope the other tests go okay, and please do let us know if we can do anything to help! :)
    Scope

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