Isabella Alford’s Story

 

Deborah, James and Isabella

A few weeks ago I was put in touch with Deborah Alford, loving mother of beautiful Isabella who will turn two and a half years next month.

Deborah and I shared our daughters’ stories and how both our families came to receive the awful diagnosis of Tay-Sachs. We keep in regular touch, we share our day to day, our feelings and the practicalities of our new lives. Although our hearts break for each other’s family and for our own, it’s comforting to be able to have someone on the other side who truly understands.

Deborah kindly allowed me to share Isabella’s story on our website, here it is on her own words to me:

“I am pleased to say that I had an excellent pregnancy and a birth that was free of any complications.  Isabella was a healthy 8lb 2oz, beautiful and perfectly formed.  I struggled with breast feeding and after a week, Isabella had lost too much weight and I had no choice but to bottle feed.  At three weeks old she developed a strawberry Nevis on her head which grew at an alarming rate so we had to get her checked out at the hospital.  She had a scan of her abdomen to rule out any other growths but all was clear and we were assured that it was not a cause for concern and that it would shrink away as quick as it came.  It has.

Isabella was also ahead of all her milestones.  She was early with the mumum sounds and carried on with the dada and proceeded with several words like Dad, cat, chair, hair etc.  She could point out all her main body parts way ahead of her friends and could identify all her animal flashcards correctly at about six months.  She was also up on her feet at six months, preferring to hold our hands and walk rather than crawling.  Her crawl always struck me as being a little slow.  By ten months she started to take a few steps by herself so we were sure that she would be walking by her first birthday.  At ten months though we did notice that her words had mostly fizzled out.  She would occasionally say the odd word but not as much as before.  We didn’t worry too much about this as my husband didn’t talk until he was three.

At Isabella’s ten month check I raised concerns about her sensitive hearing.  She startled a lot and also got very upset in busy, noisy environments.  We did get a call from the hospital but by the time this happened it had calmed down a lot and although the startle to noise was still an issue, she was no longer as upset by it so I didn’t pursue it.  Isabella had always been a sensitive baby, she cried a lot and was and still is very clingy to me.  When I met up with friends at groups or at each others houses she would never get stuck in and play with them, she refused to get down off my lap.  I admit to feeling a little stifled although I put it down to a shy personality as myself and my husband had also had as children.  Anyway, the walking continued to improve, she could walk by herself across rooms and zoomed around everywhere with her walker.  At 14 months I was puzzled that she still hadn’t let go for good but health visitors told me the usual line that she will do it in her own time.  By 18 months I was concerned and felt we needed some help as Isabella’s feet seemed to be falling inwards.  We were referred to a physio who explained that Isabella is hyper mobile and that all her joints were too lax.  This explained why she wasn’t walking by herself continuously as it usually takes longer with hyper mobility.  They recommended she wear boots to support her ankles. I also realised at this time that Isabella had never stuck her tongue out. A nurse friend of mine suggested she might be tongue tied and I thought this might explain the breast feeding difficulties and the lack of talking.

On October 5th 2010 we took her to see a GP who quite honestly scared us out of our minds.  She felt that Isabella had a whole host of motor and fine motor delays.  She asked if we had Spina Bifida in the family.  She referred us to a paediatrician which took two months, leaving us to come up with all sorts of medical possibilities, most of them scary.  The paediatrician saw straight away that Isabella was having absence seizures which in itself was a lot to take in, we thought she was a day-dreamer.  Isabella then had appointments at  Addenbrookes, Cambridge for two lots of E.E.G’s, neither of which showed any epileptic activity.  She then had a C.T. scan to rule out tumours.  This was clear too.  We were then referred to a neurologist who felt that there was likely to be a more serious problem and that we would need to see an ophthalmologist and have various other tests.  That night I read about Tay-Sachs after hours of internet searching and I knew in my mind that everything fitted.  We saw the ophthalmologist who found the cherry red spot and I knew exactly the kind of disease we were looking at.  Two months after I had read about Tay-Sachs and after a myriad of blood tests we received the diagnosis.  This was March 15th this year.

Since October 2010 Isabella has regressed a lot.  She can still bear weight on her legs and still prefers to be walked around with us supporting her and up the stairs albeit very clumsily.  She can no longer crawl so cannot move around by herself.  Her skills with her hands are very limited but we have portage once a week which has helped enormously in retaining the play skills she still has.  She has a tremendous amount of energy and strength and when sitting or laying she loves to ’dance’ by flinging her arms and legs about or by bouncing on our laps.  She smiles and laughs a lot and responds really well to music and words, anything that sounds funny and rhymes usually does the trick.  Her vision is now very limited but seems to phase in and out, she feels our faces a lot which breaks my heart every time.  Feeding has started to become a bit troublesome in the last couple of weeks and drinking is causing more concern.  We are trying our best to combat this by adjusting routines and techniques.
We are lucky to have a very good team of health care professionals around us who we feel are doing all they can to help.  We must have every type of worker available!
Isabella is our one and only child.  She is our world.”

22 Comments

  1. Reply
    Leli May 27, 2011

    Dear Deborah,
    Thank you for sharing your story. I am a friend of Patricia’s and I admire your’s and Patricia’s strengh. I really hope we can all do something and find some cure soon for these little girls and boys that don’t deserve this. As a mother myself I can’t even start imagining what you are going through but my best thoughts and love are with you and your families.
    Leli xxx

  2. Reply
    Caroline Foot May 27, 2011

    Hi Deborah

    That must have been hard to put in writing, but you’ve done it so well. As a friend who has seen Isabella grow up, almost weekly, it is nothing less than a heartbreaking diagnosis. She is such a beautiful and captivating little girl and in a difficult time for me has been a ray of sunshine every week. Deborah, you have been amazing in how you have dealt with the months of doctors, appointments and waiting. I hope I and all of us at cafe can continue to support you all and that we can help give you some more ‘not all about tay-sachs days’ xxxx

  3. Reply
    Claire-Marie Foord May 28, 2011

    Hi Debs, James and little Isabella
    Your story is one that will hopefully help to raise awareness for other parents also. The last few months must have been such an emotional time that perhaps most of us cant even imagine. With the love of each other.
    I hope that your little family enjoys every moment of everyday and wish you the very best.
    Love us xx

  4. Reply
    Emma Stocker May 28, 2011

    Dearest Deborah & James,

    I admire you both so much, to even write this must have been so hard for you and you are an admiration to us all. Lleyton saw this picture of you all whilst i was reading your story and sat here on my lap saying ‘Issabella mummy, issabella’. We have all got to know one another and see each other every week, the children have grown up together with there only being a month difference between her and Lleyton. She has always been such a happy little girl, beautiful, smiley and always a pleasure to be around. As well as family you will always have so many friends around you to give you love and support.

    Love to you all xxx

  5. Reply
    Diana Butler May 28, 2011

    As another friend who has enjoyed watching our children grow up together, Isabellas diagnosis is devastating. She is incredibly lucky to have such amazing, devoted parents who will help her through all the difficulties she faces. Isabella is the most beautiful, precious litle girl whose smile lights up the room. I hope the friendship between our girls continues for many years.

    All our love to the three of you with special kisses from Livy xxxx

  6. Reply
    Melanie Evans May 28, 2011

    Although we can never fully understand what you are going through we are here with you on this journey if you ever need us for anything at all. x

  7. Reply
    Natalie Jarvis May 29, 2011

    To Debs and James,
    From the day i met you when Isabella was 17 days old, i just knew we’d be friends. Isabella was tiny then and just slept on your shoulder all the time. Now she has grown into a beautiful 2 and a half year old and myself, Bella and Max have loved seeing you both every week and sharing all those times together.

    I think you know how much people think of Isabella including us and this is simply beacause of her smiley, gentle, loving personality. She is a credit to you and James.

    You are both so wonderful with her and she is so very lucky to have you both to look after her throughout all the very tough times you are going through.

    Please always allow us to help you in any way we can, we all so desperately wish we could make it better for you.

    All our love and kisses.

    The Jarvis clan
    xxxxx

  8. Reply
    Sharon Chisman May 30, 2011

    Debs, James and Isabella,

    Just wanted to show my support for you all, Debs and James you are so strong.

    Ever since we first met at Baby Cafe I have always had a special place for Isabella in my heart. She never fails to find a smile for me and truly is a very special girl.

    We are always here for you to help in anyway we can, even if its just a playdate and a coffee.

    Love and hugs from Abi and Isobel,

    Sharon xx

  9. Reply
    Ade June 3, 2011

    Dear Debs ,James and Isabella(Ding Dong),
    What a well written piece,loads of love .
    Auntie and Great Auntie Ade xxxxxxx

  10. Reply
    Jim & Sarah June 7, 2011

    Not sure what we can say that hasn’t been said already. Isabella is very special to us, as are you both.

    Love you loads guys.
    J&S x

  11. Reply
    Louise Cunningham June 8, 2011

    Dear Deborah, James and Isabella.

    It was great to see you today Deborah and to really catch up. It was so lovely to see Sophie and Isabella playing together on the trampoline. I’ve always felt they have been close being only one day apart in age. I hope Isabella is nice and relaxed after the foot massage Sophie gave her!!! it was so funny.

    I just wanted to say what wonderful parents you and James are and Isabella is a joy to be around. I really meant what I said today if you ever need any help at home i’d love to help out. I know how hard it is at the moment with all your appointments.

    Love to you all,
    Louise, Brian and Sophie XXx

  12. Reply
    Bev Jackman June 10, 2011

    Dear Debs,James And our special smiley small person Isabella,
    We can all appreciate how difficult it is for you after having this devasting diagnosis. Isabella has brought so much happiness and love to us in Devon she is our own little ray of sunshine.We are all looking forward to a whole week which is not about Tay Sachs when we embark on our holiday together at a very special place to us all.You know we are always here for you whenever needed, there have been hundreds of texts between us when talking has not been possible as so many tears have fallen. Isabella is having the best love and care she could ever wish for from both of you. We would also like to send our love to Amelie and her family, it is lovely to see that both families have gained support from each other,I am sure Amelie is giving as much love and joy to her family as Isabella does to ours. We love you so very much, Aunties Bev, Ade, Max and Uncle Smartie xxxxxx

  13. Reply
    Corinne June 10, 2011

    Dear Deborah, I guess you know that right from the first time you came to the Cafe, Isabella has been very special to me. I shouldn’t have favourites but there are some at those Monday morning sessions who make what we do a real pleasure and Isabella is right up there at the top! I have kept that picture of her finding the Easter egg in my diary.
    I have wept as we all have but also been so full of admiration at how you have faced each step of the way (and sometimes the steps seemed to go backwards). I have prayed for love, understanding and support to surround you all – somehow I sense on Mondays that those prayers are being answered . May the other days of the week bring you those “not about T-S” moments which you surely deserve. Thank you for the privilege of letting me share your journey.
    Love Corinne

  14. Reply
    Lyn Forster June 12, 2011

    Isabella has touched a lot of lives and is a very special little girl with a lovely family around her. I work with Al (Ade!) and have enjoyed seeing you all when you pop in. We think about you all the time and I know there are sad times to come but think you are doing an amazing job of making lots of happy memories that will stay with you forever.
    Have a wonderful time in your ‘special place’ and give Isabella the biggest hug from me. Love to you all.

  15. Reply
    Katrina June 12, 2011

    Hi Deborah, I am a friend of your colleague, Athena.

    Although I do not know you and James personally, your courage and strength has overwhelmed me. I am looking into doing some fundraising over the summer and I’ve just found the cause I would like to support.

    Kindest regards,

    Katrina

  16. Reply
    Nats June 13, 2011

    Debs, James and beautiful Isabella,

    I guess we live in our own worlds and complain about so many things, I’m so sorry we don’t do more yet I’m hugely glad to hear that you’re getting the right kind of support.

    I guess I don’t really know what to say, nothing changes it, although I’m glad you are finding some normalcy the day at the park sounds perfect.
    And I remember Isabella’s naming ceremony as such a perfect day in the most wonderful of venues.

    We’re always here sending love and prayers

    Xxx

    Natalie, Paul, Archie and Theo

  17. Reply
    The Matthews :) June 14, 2011

    Debs, James and Izzy

    I can only echo what has already been said, Izzy’s diagnosis is heartbreaking and I wish that I could do something to make things easier for you. I can only offer friendship and I promise to be here at any time, for any request, actually almost any request – I hate ironing :)

    You are showing an amazing amount of strength, although I know you don’t always feel like you are. The lack of self pity and your wanting to help not only Izzy, but other children in the same situation is a true example of what lovely people you are, and how sadly life does not discriminate with the worst things happening to the very best people.

    I know that you have many difficult times to come, but also that you are doing your best to have as many days that are not about Tay-Sachs as possible by enjoying every moment with Izzy and creating a million happy memories. I hope we can help create some great memories, and support you through the bad ones too.

    I’d also like to send our love and thoughts to Amelie’s parents, and thank them for creating this site and allowing us to help in any way we can, even if it is just with words.

    Love you all

    XXxx

  18. Reply
    Trudi Moulton June 16, 2011

    Dear Debs, James and Isabella,
    Firstly, well done for having the strength to share your story. No words can express our sorrow when we heard of Isabella’s diagnosis. She is very special little girl who has such lovely parents and family. Please do ask if there is anything at all we can to do help.
    Sending you all lots of love,
    the Moulton family xxx

  19. Reply
    Helen Biro June 20, 2011

    Well done for sharing your story and working so hard to raise awareness of this. I am Nicola Bradley’s sister in law and as such have read your moving account on their facebook link, which I have also posted myself too. As a mother of 2 myself, I cannot begin to comprehend the emotional journey you are on. Your courage and strength is overwhelming, I hope you are able to focus on the good days and enjoy the days that are not about Tay-Sachs. Izzy is clearly a very special girl with amazing parents. I will keep updated on your progress via Nicola and wish you all the best raising awareness.
    Helen Biro x

  20. Reply
    Uncle Dave & Auntie Carolyn July 2, 2011

    Dearest Debs, James and Izzy,

    We can’t imagine how you felt when you were told the worst news possible. Your strength of character is an inspiration to all. Even though we cannot be with you as much as we would like, we are always thinking of you and sending love and strength in our thoughts. We will be with you when you most need us. Most people go through life without facing such agony but you are two very special people with a very special child in a position you never expect to face.

    Love you always

    Uncle Dave & Auntie Carolyn.

    XXX

  21. Reply
    Andrea July 21, 2011

    Dear Deborah, James & beautiful Izzy!!

    What a gorgeous Alford family photo!!

    When you told us the heartbreaking news about Izzy, we could not imagine what you and James were going through. Thanks to this amazing and inspirational website you have managed to tell us by writing “Isabella Alford’s Story”. We admire your strength & honesty in writing this difficult piece – it can’t have been easy but you have wrote it perfectly – WELL DONE!

    Since we met you & Izzy at the baby cafe, we just “clicked” & I am proud to say we have been friends ever since. Millie & I especially miss our Monday morning walks (and gossip!!) together & Izzy’s smile could banish any Monday morning blues away!

    Although we are not on your doorstep anymore, we are always here for you all. If you need anything we are just a phonecall away. You & James are amazing parents & Izzy is a very very very special little girl who has touched all our hearts.

    We hope to see you soon to enjoy a “not about tay sachs day”.

    Sending you lots of love – miss you lots!!
    Millie sends Izzy a BIG X

    Andrea, Nick & Millie
    XXXXXXXXXXXXXXXXXXXXX

  22. Reply

    [...] You can read Isabella’s full story which is available on Today Was Not About Tay-Sachs here. [...]

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