Meghan's Smile

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Meghan's Smile

This page is to keep Meghan's friends and family up to date about her progress and awareness of her She was born with it and there is no cure in humans . . .

As many of you know, our little girl has a very rare chromosomal mutation called MECP2 Duplication Syndrome. Yet. So, we live day by day. She has had issues since birth - choking, reflux, obstructive apnea, laryngomalacia, ventricular nodular heterotopia and thin corpus callosum of her brain, and failure to thrive - just to name a few. The puzzle finally came together when genetics mapped her geno

me and told us that several of the genes on her X chromosomes (MECP2 is one of the genes) were duplicated and had translocated to her #13 chromosome. Because of this mutation, her body can not function properly and she will be severly to profoundly mentally disabled, may have seizures, may not be able to walk, and will have limited to no speech. She is also very prone to respiratory infections, so we must be very careful with her and with Ashleigh. In the meantime, Meghan attends a special school from Monday through Friday. There, she receives physical therapy, occupational therapy, speech therapy, and special attention to her needs. She is fed through a "g tube" that goes directly into her stomach and sometimes needs oxygen while sleeping. At 10 years old, she takes small steps with support and eats small amounts of food through her mouth - but she wants more!! She is taking 4 different medications to control her seizures, with no success. So, we are trying the ketogenic diet. Since the onset of seizures in 2020, she has regressed terribly. If you'd like information about this syndrome and its symptoms, check out the following website. https://curemds.org

It explains MECP2 duplication in layman's terms and includes profiles of children that have been diagnosed with the syndrome. Meghan's profile is on this site and you'll notice she is one of very few females affected. This is because the genetic syndrome is a duplication of material on one of our X chromosomes. Since females have two X chromosomes in every cell of their body, the X with the duplication can be "turned off" and thus not negatively affect a female. Unfortunately, Meghan's duplicated portion of her X chromosome translocated (moved) to her #13 chromosome. So, the duplicaton is "active" in every cell of her body, just like it is in a male with this syndrome.

08/25/2026

First day of school for the Bubs! She was pretty alert and engaged, but she took a big nap when she got home from school!! Good thing, because so did Mom!

08/20/2026

Late posting this, but our vacation ended on a fair note. Megs and her sissy finally had some pool time together and a little beach time with the jelly fish in Bethany and the horses at Assateague! But overall, I am just happy to get these two home safely and ready for school this coming week. I don't think Meghan and "vacations" go together well anymore!

08/14/2026

Rough start to our beach vacation with a water main break and boiling water advisory; so Dave was boiling water like a champ. Not like we need more stuff to do!

07/31/2026

Last post for MDS awareness month!⁣

MECP2 Duplication Syndrome manifests differently, depending on the person. It is unclear how the size/length of the chromosomal duplication affects symptom severity, but studies have shown that the longer duplications generally produce more severe symptoms and that MECP2 triplication produces more serious symptoms. ⁣Meghan's duplication length is quite long.

07/24/2026

There are currently TWO clinical trials for treatment for MECP2 Duplication Syndrome - Ionis' ATTUNE trial in locations across the US and Huidagene's HERO trial in China.

And Cure MDS: The 401 Project is still raising funds to bring more treatments options, like SiRNA, to trial as well!

Both trials have inclusion and exclusion criteria that needs to be met before patients can participate. For example, only males can participate in both. But, we are hopeful that females will be allowed in the SiRNA trial. We are desperate for a cure.

07/18/2026

MECP2 Duplication Syndrome is often hereditary (inherited), but it can also occur spontaneously (de novo). Meghan's was de novo. We had no idea until after she was born and she had genetic testing around 5 months old because of many unexplained symptoms.

07/15/2026

More than 60% of people with MDS have seizures, some are not able to control them with medicines. At one time, Meghan was on 4 different seizure meds, 5 if you count the trial med she's taking. We recently weaned her off one of them, and she helps brush her teeth again and is more interested in eating.

07/10/2026

MECP2 Duplication Syndrome (MDS) is often terminal by early adulthood. Meghan is 15 years old.

07/05/2026

MDS is similar to autism, but with more symptoms which are often much more severe. Meghan has all of these, starting with feeding issues a few hours after she was born.

Severe developmental delay
Intellectual disability
Limited to absent speech
Low muscle tone
Frequent respiratory infections
Seizures/epilepsy
Feeding/gastrointestinal difficulties

07/02/2026

It's July, and that means. . . It's MECP2 Duplication Syndrome (MDS) Awareness month!

As you know, MDS is very rare. You may have heard more about Rett Syndrome, its "sister" disease. Big difference between the two: MDS is caused by having too much of the MECP2 gene in your DNA; however, Rett Syndrome is caused by having too little, or a mutation of, MECP2 in your body.

Address

Columbia, MD

Telephone

+14435042658

Website

https://curemds.org/donate-2

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