Anthony has a life threatening brain disease

Anthony is our 3 year son and he is a very sweet baby boy, who has the most endearing smile and biggest belly laugh. Each day for Anthony is a battle against CASK Gene Disorder with Macrocephaly. CASK is an ultra rare disease that affects the CASK gene on the X chromosome, so it is more serious in boys in general. Due to CASK, Anthony can not walk, talk, crawl, or even eat baby foods, and he is bottle fed. He has seizures and digestive problems, severe developmental delays and many medical challenges, yet Anthony remains happy and he is a hardworking boy who never gives up! Anthony also has Leukodystrophy which is a neurological brain disease of the white matter of the brain.

Anthony has had extensive genetic testing and workups at multiple major medical centers; including Children’s Hospital of Philadelphia, Yale University Children's Medical Center, Shands University of Florida, Arnold Palmer Hospital for Children, John Hopkins All Children’s Hospital, and Kennedy Krieger Institute. Genetic findings and extensive workups show that Anthony has CASK Gene Disorder with Macrocephaly.

Anthony just returned from a visit to genetics at Yale University and we have a major update for you, Anthony is potentially a candidate for gene therapy utilizing CRISPR to give him the chance for a cure from CASK Gene Disorder! Right now, the doctor there is extracting RNA from Anthony's blood sample to express the CASK gene and find out if Anthony is a candidate for gene therapy. His doctor is confident he will find a target for gene therapy as he has developed gene therapy for other rare diseases.

Anthony and his friend Miguel who also has the same disease want to be the first to undergo gene therapy as there is no cure or treatment for CASK Gene Disorder. We need your help with fundraising as this disease is ultra rare and there is no other option to pay for the gene therapy. Our goal is to sponsor Anthony and Miguel for gene therapy. Please read on to learn more about Anthony and CASK Gene Disorder.

The funds that are donated from December 2023 onward will all be used toward gene therapy for Anthony and towards any additional expenses that go towards his needs as he grows bigger and older.

CASK Gene Disorder is a genetic mutation in the CASK protein. CASK stands for calcium/calmodulin-dependent serine protein kinase. It is a disorder that affects the way the brain forms, the way neurons (brain cells) communicate with each other, the release of neurotransmitters and action potentials among other things they are still uncovering. Basically, the signals sent between brain cells and brain regions are affected and also between the brain and the body parts they are supposed to reach is affected. So, it brings many challenges, essentially to everything the body and brain does.

For Anthony CASK Gene Disorder causes:

1. hypotonia: hard to do anything against gravity. can't sit, crawl, stand, or walk

2. Epilepsy-he has seizures

3. Vision: central visual impairment (cortical blindness) and nystagmus

4. Digestive problems: severe hypomotility if intestines and inconsistent and slow stomach emptying, severe constipation, severe constipation, vomiting. (gastroparesis, constipation, GERD)

5. Anthony has Macrocephaly, rare among CASK even but others have it too.

6. Inability to regulate body temperature, easily and quickly overheats.

7. Developmental regression happened and anything simple, even a cold or flu, or having anesthesia could cause another one. Further regression is life threatening per his neurologist.

8. Obstructive sleep apnea

9. Profound speech delay

10. Developmental delays

11. Sensory sensitivity (touch, vestibular, temperature, smell, taste, sound, sight)

There are around 277 cases of CASK Gene Disorder in total. Only Anthony and one other boy from Brazil have CASK Gene Disorder with Macrocephaly and similar symptoms. The gene mutation often affects females more predominantly as CASK Gene Disorder is an x-linked condition and is more severe in males; males do not often survive past infancy or even to being born. The total number of CASK patients that are male is about 15 to 20 percent. Anthony also has another rare disease, an unknown Leukodystrophy.

We have our official genetic diagnosis now and are awaiting confirmation of gene expression through RNA testing. We must put off a follow-up MRI of his brain as Anthony cannot have sedation as he could regress further and possibly permanently.

Anthony is at risk for brain damage if he acquires an infection or cold. Anthony could permanently regress and lose functioning or die from a simple illness that others would be fine with due to his brain/genetic diseases. He was hospitalized for 5 days in July 2023 with a mild fever of 99 to 101 degrees and he is still recovering. Anthony also has unpredictable seizures that require immediate rescue medication, and his seizures are not typical in appearance. He requires a 1 on 1 at all times due to his lack of safety behaviors, he could easily suffocate with a blanket. For example, he has a tendency to choke on his own saliva/reflux and this requires an immediate rescue. Anthony is also bottle fed, Kate Farms which is a feeding tube formula.

Anthony has severe anaphylaxis to eggs, peanuts, tree nuts, and wheat and avoiding those allergens in the air or contact around other children and adults is not possible at school. Anthony also has cognitive and physical delays that require the home environment, he has a sleep safe ped that he lays down to rest frequently. He is wheelchair bound and can be in his chair for a limited amount of time.

Anthony has been doing physical therapy, occupational therapy, speech therapy, and even vision and feeding therapy. Anthony works so hard at his therapy and he has made some progress over the past two plus years of therapy. You can follow along on social media to see Anthony's latest progress and achievements.

Anthony’s Story:

Our beautiful and sweet grandson, Anthony was born on October 19, 2020 and he was born 6 weeks early. He tried to come 4 weeks before that, so Terry was on complete bed rest for the last month of her pregnancy. She had to have a no salt diet and stay in bed and try to relax. They had to go to the hospital anytime her blood pressure was high or she had any labor pains. She was induced and was in labor for 11 hours and Anthony came into the world and made a giant roar- screaming I am here, with a full head of hair. Anthony was immediately brought to the NICU at Celebration Hospital where he remained for 9 days. Anthony was born without the reflex to feed and they were very concerned about his weight so he was kept in his incubator with his head strapped down to the left side to prevent choking. His parents had to work on teaching him to feed and each mL of bottle he would suck down was a big victory and we cheered him on. They had to hold his chin up with their fingers because he was too weak to hold his chin up to the bottle to suckle. Anthony had an underdeveloped small chin and they kept their fingers there each feeding to support him until he was about 6 months old when he could mostly suckle on his own.

Anthony had medical problems from the beginning. When he was two weeks old he stopped breathing and turned bright red for 10 seconds. This was the scariest moment of our his parents lives at that point. He was rushed him to the hospital and they diagnosed acid reflux. Apparently, the pain from the reflex caused his body's muscles to contract and he stopped breathing, protecting his airway we were told. So, Anthony started on acid reflux medication at that time. By the time Anthony was nearly one month old he had such severe gas and constipation pains we were back in the ER and doctors office multiple times and he was started on a very powerful drug not usually given to babies for his constipation. He was kept on this until he was 9 months old when a geneticist at John Hopkins said he should not be on that medication. We are thankful to be in the highly capable hands since then of a wonderful gastroenterologist at Shands University of Florida who is doing a great job for Anthony.

Anthony is a happy baby and he loves to smile and laugh. Anthony was getting stronger and getting bigger and by three months old he was able to hold his head up well on tummy time and by four months he could push up very high with his arms and even roll over. He reached his maximum developmental abilities mostly by 4 months old and then learned to eat baby food by 5-6 months old. At that time Anthony was eating baby food, rolling over, and generally doing well except for his reflux and constipation. He was babbling a lot and happy. By 6 months old Anthony had stopped progressing and had begun to slowly lose skills he had gained when he was 6-8 months old. He started having more feeding problems, worse reflux and throwing up, worse constipation, severe eczema that led to his skin breaking down and generally losing muscle strength and abilities. By the time he was nine months old Anthony could not roll over, could not sit up, could not hold his head up, had developed a torticollis, had worse constipation, reflux, and vomiting, and could not feed on baby food as well he was coughing and seemed to be choking when we tried to feed him.

When Anthony was 6 months old his gastroenterologist sent him for a stomach valve ultrasound and it was discovered he had gastroparesis, or slow stomach emptying. The liquids just stayed in his stomach and didn't empty like they should.

Dealing with an ultra-rare disease has been stressful as healthcare practitioners and doctors are trained to look for common problems first to explain symptoms. The saying goes, if a doctor hears hoof beats on the ground to think it’s a horse, not to expect a Zebra. Therefore, during Anthony’s first 9 months of life as we kept bringing Anthony into all his doctors offices they never had any idea something serious was going on. Anthony was only able to see the nurse practitioner at his pediatrician's office except for his first and final visit there in Tampa, and not always the same one either.

The same thing took place at his gastroenterologist's office in Tampa, where he saw the nurse practitioner instead of the doctor. We kept requesting Anthony to see the doctor and they kept being unavailable. Eventually we convinced the office of his pediatrician to let Anthony see the doctor when Anthony was nearly 9 months old. His pediatrician was shocked at the changes since she had seen Anthony when he was 4 months old. She was concerned that Anthony had more development in skills and abilities at 4 months old than he did at 9 months old and she immediately referred Antony to see a neurologist at John Hopkins All Children's Hospital.

Within a few days Anthony saw the neurologist there Dr. Geller. Anthony's exam was extensive, and the doctor was worried Anthony had a brain tumor, white matter disease, or something else very serious. He had an EEG, MRI of the brain, labs, and stat referrals to genetics, ophthalmology, and cardiology. His doctor stayed after the clinic to wait for Anthony to finish the MRI and we were the most nervous waiting we have ever been. His doctor came to us in the cafeteria while we were waiting and told us Anthony has Leukodystrophy. It was a terrifying and sad moment.

Since that time, Anthony's parents have been trying to get an answer through genetics and due to a long battle with insurance his genetic testing was delayed and partially not covered by insurance. It took from July 2021 until August 2022 to find out Anthony had a CASK Gene Disorder. It took from August 2022 until August 2023 for his doctors to reach a consensus agreement that Anthony has CASK Gene Disorder with Macrocephaly.

Since Anthony was 9 months old the only available medical treatment has been intensive therapy. Anthony has gone to feeding therapy, speech therapy, physical therapy, and occupational therapy. His days are centered around his therapy, and he also has early steps therapy and we have tried toddler time social classes as well. Between his doctors appointments and therapies, Anthony is exhausted, it is so much to ask of a little boy, and yet he has fun and keeps positive. His parents used to call his therapy at John Hopkins his school and they always call all his medicine he takes his dessert.

Anthony transitioned to at home therapy thanks to the Early Steps program and he has done much better and actually made forward progress in his development at home since January 2023.

Medical/daily Challenges:

As of this summer 2023 Anthony could not sit, crawl, roll over, stand, feed himself, or speak any words. As of December 2023 Anthony is starting to push himself up to sit when he is on an incline and in his special PT bed. Anthony requires 24-hour supervision at all times. He will sometimes cough or choke on saliva and need to be rescued within seconds. He currently can roll over in his sleep safe bed and special PT bed but not yet on the ground on a mat. Anthony relies completely on his family just as a newborn baby. He has a daily schedule to keep him on track with his medicines (20 syringes a day) and his parents feed him his bottle at scheduled times.

For feeding and taking his medicine (dessert), Anthony needs to be fed in his wheelchair so he is elevated just right so he does not choke or spit up. We turn on his favorite movie that brings him happiness, peace, and comfort, Moana, or other Disney movies like Aladdin, Monsters University, Cars 2, Lilo & Stitch or Mickey Mouse Clubhouse.

Anthony smiles the moment he sees our faces. He smiles when we change him. He smiles and laughs when we bring him downstairs. He becomes exhausted just from this routine and we let him rest. He has multiple therapy appointments and doctors appointments each day. His parents structure his day to work on his therapy exercises at home and make sure he gets sunlight and sees nature and farm animals as much as possible. His parents read to him and sit him up and put him in his standing frame, gait trainer, wheelchair, and bath chair. He takes frequent breaks laying down in his bed.

Every day is focused around making sure he feeds enough to not become dehydrated or more constipated which in turn causes him to feed less and throw up more and then become more dehydrated. We give him multiple medications to make sure he can poop as his brain does not send enough signals to his digestive system as he has gastroparesis and intestinal dysmotility, basically the muscles of the intestine are weak and do not work correctly.

All his muscles have low muscle tone including his eyes so each day is exhausting for Anthony, yet despite it all he keeps a positive and happy outlook.

His parents try to anticipate his needs and wants and move him to where he wants to go and how he wants to be, sitting, or lying down as he still needs assistance. When he sits, he is being held up or supported in the sitting position. Anthony has never developed any safety reflexes on his own, he needs to be taught. He does not know how to protect himself if he is falling and he can't protect himself well due to his low muscle tone so we make sure he is safe and happy. Despite all this, Anthony remains so sweet, happy, joyful, and very appreciative, we are truly blessed.