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My Daughters Story - Her Rare Genetic Syndrome



Most don't know my daughter suffers everyday from a rare genetic disorder. Yes, she suffers every...single...day...it's tough. Here's our story and how we are coping.

My daughter was born 7 years ago on a very hot and humid August night. I was 41 weeks along, labor didn't go as planned. Just my luck. I couldn't dialate after hours of trying and loads of medication I began dialating and very happy as I had received my 1st epidural, my 3 boys were all natural, pain free births. The complications that arose with my daughters birth I opted to have an epidural. She was born healthy, happy, calm...she was so perfect.

Fast forward...as she grew she lacked thrivement, she lacked meeting basic milestones. I was stunned, I knew all babies are differently and certainly I couldn't compare her to my boys, her siblings. At 9 months old my daughter was unable to sit up, crawl, or even hold her own head up. Doctor after doctor for months pleaded with me she was just...normal. I laughed in their faces. At 14 months old she was poorly sitting up, better head control, still not crawling which wasn't a biggie, no cruising or attempting to walk. Finally I had a doctor who agreed she needed physically therapy. From age 14 months -age 3 years she thrived in therapy. When we ended therapy I had a happy toddler walking, slightly running, just pure happiness. Therapy ended...lets fast word 4 months later. My once happy thriving toddler was regressing skills she learned. She was wobbly, slow, clumsy, falling all the time. Fast forward after months of hassle with doctors...I finally got in and a referral too see a neurologist. We met our neurology doctor when my daughter was 4. He agreed something was terribly wrong. He referred us for all kinds of testing MRIs, cat scans, x-rays, spinal testing, blood work, biopsies etc Months of testing and weekly phone calls that my daughters tests were all fine. I thought ok...I must be crazy, Regardless, deep down I knew something was wrong. Our neurology doctor referred us to Genetics.

We met Genetics in the winter of 2014. Our meeting with genetics was simple and familiar as we've been through with countless doctors over the last 4 years assessment, physical and their thoughts. Genetics agreed to do testing, they knew something was off. A few weeks after meeting with genetics, My husband and I went back to have our daughter put under for testing too see why after 4 years of chronic stomach pain and unable to poop properly why she couldn't use the bathroom. During this visit genetics took 6 vials of blood to test my daughter for as many genetic conditions as possible. We did find out why she can't pass a bowel movement- the muscles do not function at all therefore she can't feel, know, or even pass a bowel movement atleast she wasn't until she was prescribed Senna to help her with that. Anyways, back to the blood work 5 months of getting phone calls calling me to tell me "This test came Normal" "We got her results in its normal" As a mother I became....frustrated...maybe there's nothing wrong. I'd always second guess myself and tell myself something is wrong....

9 days before my daughter was to turn 5, I received a phone call just as I was beginning dinner. It was genetics, my heart stopped, I thought they found something they've called this late. I answered the phone...what I heard Next made my heart drop... "Your daughter has an extremely rare genetic condition....1Q21.1 Duplication NOT deletion but the Duplication" I asked so many questions and kept hanging up and calling back to ask more questions. I was in shock.

My daughters 1Q21.1 Duplication was a spontaneous duplication, meaning Myself, Husband or her siblings don't have it. After diagnosis we had more testing ahead of us, since it's so rare there's actually very little research or information on the condition. Researchers believe more have it, but since it's a variable condition many could have it and have NO symptoms or people who do have it could have symptoms like my daughter.

My daughter has

Weak Muscles..some do not function. Her muscles get fatigued or she's in pain if she walks too much.

ADHD

Poor balance/coordination

Memory Problems

Vision Problems

Learning Disability

Dysmorphic Features

Spontaneous Hand Tremors

1 large kidney and 1 significantly smaller (they are deemed healthy and functioning)

As she grows older we will find out more and more symptoms she has. She will be going in November to meet a muscular doctor who will be testing her muscles for muscular problems and diseases.

I said my daughter suffers everyday, she absolutely does. She's 7 and cannot pass a bowel movement not without medication, if she misses any of her medication horrific pain will consume her body. She used to hate taking the medication as she grew older she's used too it and comfortably knows why she has too take it. She however still doesn't know she has a rare genetic condition. We take it day by day and cope with physical and occupational therapies. I'm still on the hunt for a weighted blanket that's made within the USA, I truly believe it'll help with her muscles and ADHD. She does have mobile therapy so she enjoys talking to her therapist about any frustrations she has. We just take it day by day and just enjoy her with so much love and hugs. She's more than a rare genetic condition with a slew of issues.

She's..

Funny, Loves Super Mario, Riding her bicycle and power wheel, her favorite subject in school is Science, she is a BIG cake lover despite being allergic to eggs her cakes are substituted with bananas, she's a BIG hugger, she enjoys crafts, Girl Scouts, Sleepovers, Cuddling with daddy, her favorite movie is Sponge out of water and she loves watching The Gruffalo on repeat on her iPad mini. She dislikes anything scary, swimming, and hates sweet peas. :)

That's our story and how we cope. Learn more about 1Q21.1 HERE


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