Effective January 2021, direct financial relief from the funds raised by Steps Together will be available to families for a maximum duration of 24 months. We fully recognize that for most of those we help, the medical and financial impacts are much longer than this period of time, if not lifelong. For that reason, we remain committed to sharing their stories on our website, social media outlets and emails for as long as they need. They are always a part of our Steps Together family and our community of support. Direct support of the Ruffer family is encouraged through their personally established methods of giving.
GAVIN’ STORY:
Before I tell you Gavin’s story I just wanted to share a quick story of my own. Gavin’s middle name is Louis. I selected that name in honor of my best friend Louis who passed away from cancer in 1991 at the age of 12. I have many great memories. We spent so much time having fun together as kids, fun my son may never get to experience. I miss Louis, but I know I will miss my son a million times more. Please help us find a cure now!
The moment your child is born your life changes in so many great ways. All you can do is think about all of the great things you will do together as a family in the future.
Gavin was born on September 4th, 2016 around 1:30 in the morning. He was just over 9 pounds. A big boy. Our instant joy turned quickly to panic seconds after birth when my wife, Erica, hemorrhaged and doctors had a very hard time stopping the bleeding. She pulled through and after time in the ICU Erica finally met Gavin and we thought we were ready to go home.
Gavin then got a fever and he was brought to the NICU where he stayed for the next 23 days. He had a variety of issues ranging from aspiration to very low oxygen levels. Finally we were going home and everyone was healthy.
Around 9 months old you could clearly tell Gavin was behind on his milestones. We often heard the famous line of “boys progress slower than girls”, so no testing was warranted from the pediatrician yet. Gavin continued to miss milestones until his first birthday when he qualified for physical therapy, occupational therapy and developmental intervention. Needless to say he was not a fan, but we had to do something to get him moving.
In November 2017, Gavin was back in the hospital with pneumonia and low oxygen levels again. While admitted he also got RSV. It was finally time for more aggressive testing.
On January 31st, 2018 we went to see the neurologist who would give us the results that would change our lives forever. At just 16 months old Gavin was diagnosed with MECP2 Duplication Syndrome. The doctor was so professional in delivering the news and honestly told us she had never heard of this before. She researched and told us:
MECP2 Duplication Syndrome is:
A rare, progressive neurological disorder that primarily affects boys
Low muscle tone
Feeding difficulties
Poor or absent speech
Constipation and/or reflux
Seizures that may not improve with treatment
Delayed development of motor skills such as sitting and walking
Loss of previously acquired skills (developmental regression)
Recurrent respiratory tract infections. These respiratory infections are a major cause of death.
Average life expectancy is 25 years
Update November, 2019
Taking the time to sit down and write about our precious little Gavin was so hard. It was not just a matter of finding time but facing the reality that Gavin’s story and diagnosis aren’t going anywhere. His MECP2 Duplication Syndrome is real, it’s not only a part of our lives, but it is dictating our way of life and perhaps the hardest part is realizing that as Gavin ages the symptoms of MECP2 Duplication Syndrome are becoming more prevalent.
As mentioned in Gavin’s previous profile, his immune system is weaker than that of the average child and as a result we had a rough start to the 2019 cold & flu season. Gavin was hospitalized twice, once the last week of August and once the first week of October, for a virus which led to severe dehydration and low bicarbonate levels in his blood. Our stay in the hospital in both cases was very brief because being in a hospital is an extremely dangerous place for children with MECP2 Duplication Syndrome as they are at high risk of catching a respiratory virus like pneumonia which is a main cause of death for these children. Having that fact lingering in our minds, while seeing that Gavin was suffering from dehydration and this stubborn stomach virus just made the situation scary and emotional.
On the positive side of things, it is exciting to announce that Gavin has learned to crawl. This is exciting because sometimes children with MECP2 Duplication Syndrome never gain this skill. We are very lucky that Gavin has and we are also excited that, although he has not developed the ability to walk on his own yet, he did get a walker in September 2019 and he is beginning to learn how to walk with the assistance of this device.
Now that Gavin has turned 3 years old he is getting Physical Therapy, Occupational Therapy and Speech Therapy in an outpatient facility instead of having therapist come to our home through the Early Intervention program. This is an opportunity to allow him to get used to going out of the house and be around other children and adults to hopefully provide an easier transition to a special needs school within the next two years.
At the moment we are concentrating on keeping Gavin happy and healthy. We are doing our best to cherish the moment and make the best of all his MECP2 Dupilcation Syndrome tendencies, whether good, like getting super excited over tiny little things like shadows and the sound of a phone ringing or the more difficult things like his teeth grinding and his frustration from not being able to communicate.
As always we appreciate everything that anyone does to help support Gavin along his journey. He continues to smile every day and for now that is lighting up our world.
Update November, 2021
Throughout the pandemic Gavin was healthy and did not require any hospital visits in 2020. With the in-person school year underway and cold & flu season 2021 beginning, Gavin caught rhinovirus, which to the average person is the typical cold. It can manifest itself in your head & chest or stomach. In Gavin’s case it went for both. His stomach took the hardest punch making it that he couldn’t eat or drink and caused his glucose level to plummet. We took him to the ER on a Sunday morning and got him 8 hours of IV fluids and headed home to avoid the danger of being in the hospital – it’s a very risky location for kids with MECP2 Duplication Syndrome. On Monday, Gavin’s sugar level went so low that he had a seizure. That led to a 911 call and Gavin being admitted to the hospital for 3 more days. Even with these minor setbacks Gavin continues to bounce back to his normal self and we are enjoying every moment with him.
Gavin began preschool at The Midland School in North Branch NJ. During the 2020-2021 school year he attended virtually which was a very nice transition and allowed us to be hands on with all of his therapies. He receives 2 hours of PT, 2 hours of OT and 90 minutes of Speech each week. This school year, Gavin is attending school in person. He seems to enjoy it and the reports we get from his teacher and therapists reflect slow but positive growth.
As we pull through the Pandemic, we are just happy to have Gavin remain a happy little boy. His cognitive level has seemed to plateau, meaning that despite being 5 years old, his brain remains at 2 years old. We travel to Children’s Hospital of Philadelphia approximately 5 times a year to see the GI and Neurologist. It’s a team effort and we have great doctors on our team.
Research continues to move at a snail’s pace for a cure for Gavin. Understandably, COVID took many resources away from MECP2 Duplication research. MECP2 continues to have an unbelievable list of symptoms.
Signs and symptoms of MECP2 duplication syndrome may include:
Hypotonia (low muscle tone), which is usually apparent in infancy.
Delayed development of milestones.
Moderate to severe intellectual disability.
Inability to talk, or limited speech ability that may be lost with age.
Needing assistance to walk or inability to walk.
Progressive spasticity during childhood, which is generally worse in the legs. This may lead to the development of mild contractures.
Recurrent respiratory infections (in about 75% of people). Respiratory infections can be life-threatening and are a major cause of death.
Seizures (in about 50%).
Feeding difficulties which may require a feeding tube.
Distinctive head or facial features, such as brachycephaly (abnormally flat back of the head), midface hypoplasia (underdevelopment of the middle of the face), large ears, deep-set eyes, prominent chin, and a depressed nasal bridge.
Other signs and symptoms may include trouble swallowing, gastroesophageal reflux, failure to thrive, excessive drooling, autistic features, and bowel or bladder problems.
When Gavin first got his diagnosis, we were connected with a family in PA that also have a son with MECP2 duplication syndrome. That Mom had the best analogy – the symptoms are like a Black Could that linger over our heads. You never know when and if they are going to come, but they are right there and we have to remain aware and prepared.
Although Gavin does not suffer from all of these symptoms right now, we know without a cure many more will develop over time. We are blessed to live in a community of so many good people who continue to support Gavin and our family. We are very thankful for everything and hopeful for the day we can say Gavin has a cure!
Update December, 2022
Just as all of Gavin’s years have been, 2022 has had some ups and downs.
Like many families, we were taking advantage of the opportunity to travel again, and we took Gavin to Disney World. Unfortunately, while we were there, Gavin got sick and ended up in the hospital for two days. Usually when he is admitted to the hospital there is a virus that can be blamed for his vomiting, glucose and blood bicarbonate plummet. This time, no virus was detected so we still do not know what went wrong. The day after he got out of the hospital we returned home. Disney World is not going anywhere, and keeping Gavin healthy is always our top priority.
Gavin experienced the same issues again in October, so the weekend of Halloween he was in the hospital again because his glucose and blood bicarbonate levels plummeted. We are now in discussions with his gastroenterologist to discuss having a G-tube put in. This will not prevent the illnesses but allow us to handle it at home rather than having to take him to the ER.
Meanwhile, Gavin is still a student in the Pre-School classroom at The Midland School. He seems to enjoy school and has shown great progress on his communication skills, ability to stand from the floor and with self-feeding.
Gavin has not experienced any seizures yet, there are no signs of regression and we have been able to steer clear of any respiratory infections, which are some of the scariest symptoms of MECP2 Duplication Syndrome. Gavin does continue to battle chronic constipation and we deal with his drooling, autistic traits and inability to speak on a routine basis. We continue to do our best to live in the moment and cherish Gavin’s happiness.
UPDATE DECEMBER 2023
Thank You so much for continuing to think of Gavin and for supporting him at the holiday's.
I am happy to say he is doing pretty well. He had a G-tube put in this year which has helped make it that we can manage his illnesses from home rather than having to go to the hospital. For example, when he used to get a virus, he would begin vomiting and need IV fluids to increase his glucose levels and blood bicarbonate. Now we can administer an anti-nausea pill through his tube and give him small amounts of Pedialyte to stabilize his numbers. It has been a game changer!
The G-tube has also off set the couching/choking Gavin was experiencing when drinking. Now all of his fluids are given through his tube. He is still able to eat solids, which is great because he's a hungry little guy.
He is overall a happy little boy which is truly the most precious thing.
Thank You again to you and the Steps Together Family!
So why do we need your help?
First, we are already getting some bills for Gavin’s medical care that is not being fully covered by insurance.
Second, we need to start putting money away for when we need to buy the necessary items for Gavin’s well being. For example, Gavin is non-verbal so we are looking into speech generating devices that use Gavin’s eye site in order for him to communicate. Other devices that we will need in the near future include a walker/standing device and a special needs child’s bed.
Finally, there is no cure for MECP2 Duplication Syndrome so we are taking 30% of all the donations we raise on our GoFundMe page and giving it straight to MECP2 Duplication Fund to help find a cure for Gavin and all the other children fighting this horrible syndrome. We will also do yearly fundraisers where we give 100% of the proceeds to the research.
Thank you so much for taking the time to read this and supporting Gavin in any way you can. I will keep you updated on his progress and story.