Today is #International22q11.2AwarenessDay so I thought I'd share a piece of my 22q story with you all as well as some facts about 22q.
For those that don't know 22q11.2 is a genetic syndrome resulting in either a deletion or missing section of the 22nd chromosome; or a duplication or extra piece of genetic material on the 22nd chromosome.
Part of My 22Q Story
I was diagnosed with 22q11.2 Duplication at 23 years old in the midst of chasing a medical mystery going on for 9+ years with growing symptoms. The diagnosis was a shock considering I was born with numerous medical complexities and they searched high and low for deletion at birth, to find out that it was really a duplication 23 years later. The irony is that my mom was so thrilled when I was born to find out that I didn't have a life-changing diagnosis only to find out years later that what my grandfather said that day we got that news was: "You might be thrilled to hear this good news now but with no syndrome or explanation, you'll never know what tomorrow is going to bring". Boy was he right about that.
We thought this new found diagnosis at 23 would help pave the way for answers after years of searching for an explanation for a growing list of symptoms ranging from chronic fatigue, chronic pain, weakness, dizziness, rashes, brain fog, sinus issues, you name it. We thought a diagnosis would change things because there was finally a NAME. However, little did we know it would only make the mystery that much more of just that: a mystery as symptoms continue to progress without known cause. We sought another opinion after being dismissed on the notion that 22q can actually cause a myriad of health issues and embarked on a journey of seeing multiple 22q specialists hoping to find that these symptoms and multi-systemtic issues finally had a explanation only to find out that it actually confuses the picture that much more because not too much is known about the duplication side of 22q leaving you in a grey area of continuing to search for a diagnosis and answers.
Many individuals both with 22q11 Deletion or Duplication often find themselves there. Whether it's because of late diagnosis, or being in the grey, non-textbook area of the diagnosis when you finally get one. This poses challenges for patients and their families just trying to find answers and relief for themselves or their child.
That is why we need to spread awareness and pray for more research, and training to help those who struggling to find answers. Will you join me in this mission and share not just my story but the story of many with 22q.
Facts About 22q:
22Q11.2 varies in symptomology and presentation. One person with deletion or duplication may have no symptoms or health concerns at all while another may have wide ranging health concerns.
22q11 Deletion is caused by a deletion (missing) section of chromosome 22. It Has been closely linked to heart defects, cleft palate, immunodeficiency, autoimmunity, hearing loss, among other things. It can also in some cases, be linked to autism or other developmental disabilities.
22q11.2 Duplication to the contrary, is caused by an extra piece of genetic material on the 22nd chromosome; with the extra material resulting in approx 40 genes in most individuals. It is less common than deletion. Thus as mentioned above, more research is needed to understand how duplication affects the body; but is thought to have many of the above health/medical overlaps with 22q11.2 deletion.
More facts about 22q11.2 Deletion and Duplication can be found at: https://22q.org/what-is-22q/deletion-vs-duplication/ and stay tuned as I continue to share my own medical journey with you all.
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