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My Diagnosis: Morquio Syndrome, Mucopolysaccharidoses – Type Iva

By Aisha Seedat


1.When did you first get symptoms?

My first symptom started as soon as I was born. 3 November 1997. I was born with a protruded chest and when my parents raised concern the nurses shrugged it off and said I could have cosmetic surgery over time. After several days and having a bath at home which caused me to stop breathing and being rushed into A&E, alarm bells started to go off. Soon, a series of tests began; blood tests, scans, x-rays and urine tests.


Officially after 6 months, I got a diagnosis – Morquio Syndrome, Mucopolysaccharidoses – Type Iva.

 

2. How did your symptoms change over time?

Over time, I developed all the symptoms at once. The curvature of the spine - Scoliosis, corneal clouding, lax joints, knocked knees and me needing my wheelchair more. It's more so now being 26, all the symptoms have now hit me drastically, especially with my airway becoming more narrowed and full of twists and turns and having spinal cord compression. Making life risky for me at an age where I am supposed to be enjoying life.

 

3. Did you meet any stand-out medics along the way?

My specialist and metabolic consultants are based in Salford Royal Hospital as well as some being in Leicester. Some medics have stood out for me, big SHOUT OUT to the Manchester team and some consultants in Leicester. The ones who get my rare disease are unique to me in my eyes and they know who they are; when I bump into the corridors with them it's like seeing a lifelong family friend who has kept up to date on what I am doing in life.

 

I owe my life to the late Prof Wraith (Manchester) whom I saw when I was so young and who developed research and diagnosis. We as a family miss him dearly but can see a little of him in the team in Manchester past and present who are keeping his legacy alive.


I also would like to shout out Dr S Nichani of Leicester, who diagnosed me and got me an expert level of care at a young age and Dr J Forster of Leicester who got me through my Paediatric years. The Metabolic team in Manchester both consultants and specialist nurses have kept an eye on me right from Paediatrics to Adult; Dr S Jones, Prof Hendriksz, Dr Stepien, Janet and many more.


4. Did you have any negative interactions with medics along the way?

Since my condition is so rare and living in Leicester I am the only one living with Morquio Syndrome, growing up, there have been negative interactions in my adult years. Sometimes, there is no knowledge or awareness around my condition. Therefore, I am committed to advocating and training medics (or my family when I'm not in a position to). This is more so when I am being admitted into a hospital in Leicester and not seen by the main consultants. GPs are another story.

 

5. What would your tips be for anyone else who thinks they could have a similar diagnosis to you?

If you think you have a similar diagnosis to me and you would like patient support or how to interact with your health professionals, please reach out to me via my Instagram @iiamaish or email me at a1sh@me.com.


Rare conditions can often go a miss when diagnosing and it is not a nice feeling.


Do your research, and search every symptom you have got to make sure you are correct before you visit your GP or a doctor to confirm and ask them to do every test under the sun possible. At the same time don't panic, easier said than done but you'd rather know what's going on with your body than someone telling you it's all in your ‘head’.

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