"My son has taught me so much and through him I have grown as a person in stature, confidence and emotional stability. I have seen the courage of SDS children, adults and their families at times of great pain and sadness. I have witnessed and been shown so much love, kindness and support that any early feelings of bitterness or regret have been replaced with gratitude and wonderment at the generosity of the human spirit." Harrison's mom Kim shares full of love. Read this UK family's story, here.
A sincere thank you to SDS Alliance for initiating the Global SDS Awareness Week - raising awareness in all ways and by every means possible, will help improve health care for SDS patients and save lives.
My beloved son, Harrison, has SDS and is autistic and will soon turn 26 years of age. Our journey may have similarities to other families who discover their child has a rare, potentially life threatening, genetic disorder. Many of you, like me, will have experienced a depth and range of emotions that I didn’t know existed.
Many of you, like me, will have experienced a depth and range of emotions that I didn’t know existed. -- says Kim, Harrison's mother
Harrison was born by emergency caesarean birth on 20th May 1995. His arrival was eagerly awaited by his doting and already besotted Dad and nervously anticipated by his ageing, 3 stone overweight Mum!
Nothing could have prepared my husband and I for what was to follow and ignorance in our case truly was bliss. Initial poor feeding, continual poor sleeping, never ending infections and hospital admissions, countless bowel movements, slow development, poor growth and weight gain, early eyesight and hearing problems, skin rashes … and so it went on. The toll those early years placed on my marriage and my relationship with my eldest son has taken many years to repair.
Harrison was diagnosed with SDS at 20 months old. Shwachman Syndrome what? Little knowledge, even less information, only countless unanswered questions. We were simply told that Harrison would be small and need enzymes to help digest his food and the never-forgotten words ‘with Shwachman Syndrome, what you see is what you get.’ I don’t think so! No mention of the haematological side of the syndrome, nor its many other facets, was made to us or Harrison’s primary healthcare providers. Hence, when we kept returning to the GP or local hospital with our concerns and worries as Harrison developed yet another infection or worrying symptom, we were largely ignored and considered over-anxious parents.
This exercise is not to lay blame or criticise, but to show how our suffering could have been reduced through awareness by healthcare providers of a then available Directory of Specific Conditions and Rare Disorders published by Contact a Family that lay within each and every hospital. This directory contained information on over 1000 conditions and helped put people in contact with others who had been through the same experience. Had we been told about this directory when Harrison was first diagnosed, we could have been spared the countless hours spent visiting libraries, book shops and not easily accessible internet sites to find information on the syndrome. My family could have been spared some of the anguish, torment and heartache.
The discovery that your child has a life threatening illness can only be described as devastating. Like a ripple on a pond its impact spreads far and wide. To have contact with other families and to receive information on the syndrome allowed me to channel my worry and fears into positive actions.
The years have passed and Harrison is now an adult and attached at the end of ‘our journey thus far’ is a piece written by him for the SDS UK newsletter. Harrison’s adolescent and early adult years brought with them a very different set of problems to those encountered in his childhood. Their impact however have had the most devastating effect on Harrison’s quality of life. He was not diagnosed with autism until he was 24 years of age. Neurodevelopmental and psychological issues were little reported on, monitored or supported - yet I feel these, based upon ours and other families experience, should be one of the priorities in SDS care from day one following diagnosis. To quote a patient advocate for Cystic Fibrosis, ‘in CF we have certainly found that psychological and emotional wellbeing is so crucial in providing a platform for the more physical aspects of health (at the patient and family level.’ I desperately want to raise awareness of the need for support for SDS adult patients, along with the need for and benefit of SDS adult clinics. For the families whose children are currently under paediatric care and able to guide and act on their behalf, please do prepare and plan ahead to ensure your child’s care and support network will follow through to the next stage of their journey into adulthood.
Neurodevelopmental and psychological issues were little reported on, monitored or supported - yet I feel these, based upon ours and other families experience, should be one of the priorities in SDS care from day one following diagnosis. -- Kim concludes
My son has taught me so much and through him I have grown as a person in stature, confidence and emotional stability. I have seen the courage of SDS children, adults and their families at times of great pain and sadness. I have witnessed and been shown so much love, kindness and support that any early feelings of bitterness or regret have been replaced with gratitude and wonderment at the generosity of the human spirit.
SDS is a small, but very special community filled with people, and dedicated medical specialists & researchers, determined to make the world a better place for SDS sufferers. Reach out when you struggle or feel frightened, look out for information on the disorder and support, help out wherever or whenever you can, shout out when you are not being heard or need help.
To quote from a song’s lyrics – ‘Don’t give up, because you have friends … don’t give up, you’re not the only one.’
To the very many people who have reached out, helped and supported Harrison and his family unit along the path of our SDS journey - I thank you, with all my heart.
Harrison's own words
Hello my name is Harrison. I'm 25 and yep you guessed it I have SDS. I have a variety of different names H, Haz, Hazzer etc haha. like S. [another adult SDS patient] I was diagnosed when I was 18 months.
Having this condition is not pleasant at all but its not going to go away either so we just have to live with it and deal with it the best we can with the help of our families and amazing doctors.
Like with P. [another adult SDS patient] sport was my way of dealing with the world where I could go to a happy place in particular football and when I was told I couldn’t play as much as others I was very confused because I had no idea what it was and what the symptoms were. Now though I understand why but I didn’t know why I was taking these tablets or why does my mind and body work in a different way to others I just went with it didn’t ask any questions now looking back I wish I did.
School was a struggle not so much Primary but secondary school. I didn’t come out with the GCSE’s that S. did because no matter how many times I revised the information just wasn’t going in and that was a real struggle and annoying as well. I also got bullied at secondary school because of this. Why am I so short and why I needed to go to the toilet every 10 minutes or so and I really didn’t know so. They made stuff up and it spread like a virus. Speaking of viruses I am writing this during covid times and lockdown was really hard because not only do I have SDS I'm also autistic and have depression and anxiety and not seeing my friends and family was hard. I had some negative thoughts during that time.
That’s my story anyway and I hope you have learned something that you the SDS patient or a parent of a SDS patient can take something away from this.
Stay safe everyone!
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