Behind this genetic mutation are the faces of those living it. Children full of personality, smiles and courage. Parents full of determination, strength and, above all, love. Here are features showcasing some of our PIGA families.
Meet Carter
Your Name(s): Kelly and Adam
Child’s First Name and Age: Carter, 9 months old
Location: Portland, Oregon
How and when did you receive the diagnosis?
Carter was diagnosed with PIGA-CDG via Whole Exome Sequence (WES) at 10 weeks old after being in the NICU since birth for failure to feed. His mother Kelly is a carrier. Prior to the WES, many tests including a spinal tap came back normal. An EEG at 4 weeks old revealed seizure disorder.
Tell me about your family and how Carter is doing.
Carter has two older sisters (Hazel is 5 and Meara is 17 years old). Meara has a rare, unrelated micro-deletion called AUTS2 which is characterized by intellectual disability. Hazel is neurotypical and healthy. Carter suffers seizures and near constant spasms. He is on 3 medications for seizures which seem to help, but failed to respond to spasm medications. Carter has delayed psycho-motor development, low muscle tone with lack of head control and cannot use his legs. He is on flow-by oxygen 24 hours a day and usually must be fed via NG tube. He loves practicing on a bottle and snuggling. He is close friends with the cat and the dog; they know he’s always good to cuddle. We have not yet seen him smile but continue to wait for that special day.
Do you have any advice for newly-diagnosed families?
Spend time journaling each day about your child’s condition. This way you have important information recorded so when doctors ask specifics about history or concerns you can give them straight answers. Also, never blame yourself for your child’s condition, instead give yourself grace and enjoy each moment you have with your little bundle of joy.
Meet Hubert
Your Name(s): Ewa and Jarek
Child’s First Name and Age: Hubert, 2.5 years old
Location: Wroclaw, Poland
How and when did you receive the diagnosis?
Hubert was diagnosed when he was 16 months via WES. The study revealed a mutation in the PIGA gene (further testing of gene functionality revealed a defect in biosynthesis of glycosylphosphatidylinositol and significantly lowered FLAER and CD59 on granulocytes). The mutation was not found in other family members, therefore it is classified as a de novo mutation.
The WES study was preceded by many other genetic tests (including microarray, genetic test for mitochondrial diseases) that did not reveal anything.
Tell me about your family and how Hubert is doing.
We have two children. Hubert has an older sister – Lena, who is 6 years old (thanks to research we know that she is healthy).
Hubert has significantly delayed comprehensive psychomotor development. Significantly reduced muscle tone. He controls the head more and more; rolls from the back to the belly and vice versa; does not sit when seated, does not sit himself. Sometimes he makes eye contact, focuses his sight for a moment.
In November 2018, Hubert received the antiepileptic drug (Vetira). There have been no seizures since then.
Hubert has many therapies: physical therapy, speech therapy, eye therapy, massages, pool classes, hippotherapy (Hubert loves horses).
Hubert loves being around friends and relatives. He likes to talk to him. He likes to be worn and cuddled. If nothing hurts him, he is a happy boy who loves to laugh.
Do you have any advice for newly-diagnosed families?
At the beginning it will not be easy for you… Mutation in the PIGA gene is very rare, so it will be difficult for you to find answers about your child’s future.
Follow your heart and intuition – doctors will not always tell you what is best for your child. Contact other parents of children with special needs, there you will find understanding and support. Be strong and try not to lose yourself and your needs in this whole situation. And don’t lose hope.
Meet Lucas
Your Name(s): Giesa and Adamastor
Child’s First Name and Age: Lucas, 1 year old
Location: Erechim, Rio Grande do Sul, Brazil
How and when did you receive the diagnosis?
Lucas was diagnosed at five months of age by the panel epilepsy genetic examination. Initially a microarray was performed, which had a negative result. The seizures became more and more frequent and the geneticist asked for a panel, which revealed the mutation in the PIGA gene, in April 2019. Lucas’s seizures started at three months of age, and by that time he was apparently a normal baby. Parallel to the onset of the seizures, he presented developmental delay, having lost everything he had learned, including smiles and hand control.
Tell me about your family and how Lucas is doing.
Lucas has just turned one year old. He was born in October 2018. We also have another son, Matthew, who is 4 years old. He is a very intelligent, happy and loving child. About Lucas, he has no cervical control and does not coordinate his hands very well. He also does not make much eye contact and has not smiled again, but loves to receive affection and reacts to stimuli throughout his body. Lucas transmits a lot of peace and when he feels pain or hunger he complains and even cries. He often has respiratory infections. There were four hospitalizations and several visits to the emergency room in the first year of Lucas’s life. He currently uses five anticonvulsants in addition to a ketogenic diet. His electroencephalogram got a lot worse despite so much medicine. We are studying ways to reduce all these drugs, but he still has many crises. Lucas has been receiving daily physical therapy since he was five months old.
Do you have any advice for newly-diagnosed families?
Try to connect with other PIGA families and follow what your heart says about your child’s treatment. There is no protocol of right or wrong. Doctors still do not know exactly what is best for each PIGA patient. You will build this together and your love and intuition of parents is very important.
Meet Hunter
Your Name: Nikki
Child’s First Name and Age: Hunter, 8 years old
Location: Elizabeth, Colorado
How and when did you get your diagnosis?
Hunter was born in 2011 and diagnosis in 2014 after a complete dna panel was done on him, me and his dad. He went undiagnosed from 2011-2014 – it was called Epilepsy with unknown genetic cause. Hunter was the 12th child in the world to be diagnosed with PIGA.
Tell me about your family and how Hunter is doing.
Hunter is our youngest child. (We also have a 16 year old daughter. It is unknown at this time if she is a carrier of PIGA.)
Hunter had infantile spasms/hypsarrhythmia and EPC seizures. Both of those are resolved. He currently have complex partial both left and right side and tonic clonic seizures. He is on 4 AED, Ketogenic diet and has a VNS. With all of that he still has seizures daily.
His MRI’s show cerebral shrinkage. He has silent aspiration and is gtube dependent. He is non verbal, non ambulatory with hypertonia. Globally delayed in all aspects. He can not stand or sit independently. He does not roll over. He has CVI and has had 4 eye surgeries to correct strabismus. He also has poor GI mobility. He has hip dysplasia as well as scoliosis.
His immune system is very compromised. The slightest cold turns into pneumonia very quick.
Hunter does do physical therapy, occupational therapy, speech therapy and feeding therapy weekly. He also does massage therapy 2 times a week. He does attend school, but it is very limited. He only goes 1 day a week for 45 mins. His IEP non academic and is for social interaction only. He only goes to school if he is healthy and did not have a bad seizure night. So far this year, he has made it to school 1 time.
Overall, even with all the medical challenges Hunter has, he is one of the happiest, calm, laid back kids you will ever meet. He doesn’t laugh or smile a lot, but you can tell he is happy. When he does smile, he has stolen your heart for life and his laugh makes everyone laugh with him.
Do you have any advice for newly-diagnosed families?
Don’t ever give up hope, fight as hard as you can and do as much as your child will tolerate. If one thing doesn’t work, try something else and keep trying. Stay strong and when you are weak, lean on others. Must important, if you are given negative advice or limitations from doctors, take it with a grain of salt. They are still learning about PIGA and can’t say with any certainty what the future holds for our boys.
Meet Ashton
Your Name(s): Cathryn and Andrew
Child’s Name and Age: Ashton Simmons, 2 years old
Location: Poca, West Virginia
How and when did you get your diagnosis?
After numerous other tests we got a diagnosis with Whole Exome Sequencing. Ashton was 6 months when we had our blood drawn for the WES test, Andrew (dad), myself, and Ashton. We got our results about 5 weeks later, Ashton was just over 7 months old.
Tell me about your family and how Ashton is doing.
Our life is a roller coaster ride. Andrew and I have a daughter as well who is 4 years old. Through the WES not only did we find out Ashton had a PIGA mutation, but also found out I am not a carrier. So no further testing was done regarding our daughter. She is a happy healthy 4 year old who started preschool this year. Which so far in 3 short months has added to our roller coaster of hospital stays and sickness. Ashton has very little head control at 16 months old. He cannot sit unassisted or crawl, and rarely bares any weight on his legs and feet. He doesn’t show much emotion except when upset or in pain. He has only ever smiled a handful of times. He is fed high calorie formula through his g-tube, but did recently pass a swallow study at 14 months old so we do tasting of foods for fun. Ashton still has hypsarrhythmia on EEG, but as far as we know never had a spasm or seizure. He has both low tone (mostly core) and spasticity (limbs, neck, hands and feet). Vision wise Ashton was recently diagnosed with CVI. They have monitored his eyes and vision for months and although his eyes check out physically okay he does not track anything and will only occasionally focus. Growth wise he still isn’t on the growth chart, but finally has very slowly and consistently been gaining weight. Organ wise with many tests and ultra sounds everything looks normal. His biggest problem has been respiratory issues with sickness mostly because of his low tone and not being able to clear his airway. We are slowly getting the right respiratory equipment at home to keep us out of the hospital as much as possible. The first year was the hardest and constantly hearing, “We don’t know” from doctors definitely didn’t help. Thankfully the last few months things have kind of settled down and we have more of a routine.
Do you have any advice for newly-diagnosed families?
I don’t even know where to start regarding advice. Advocating for your child is tough, doctors don’t ALWAYS know what’s best, follow your gut, reach out to other parents. Feelings of guilt and hopelessness are normal. DON’T LOSE HOPE. Not much is known about PIGA mutations at this point and each kiddo is so different hearing they can’t or won’t do this or that isn’t true.
Meet Emmett
Your Name: Ann & Steve
Child’s Name and Age: Emmett, passed away at age 3
Location: Los Angeles, CA
How and when did you get your diagnosis?
Emmett was diagnosed when he was nine months old through Whole Exome Sequencing. This was after a microarray (a DNA test that tests for more common mutations) done in the NICU came back negative. For Whole Exome Sequencing, we sent in vials of Emmett’s blood; they also took samples of both my husband’s and my blood. They match any mutations they find with his reported symptoms to come up with mutations that may be “significant.” It was January 2017 when we got his diagnosis of PIGA-CDG.
Tell me about your family and how your son is doing.
Emmett passed away just shortly before his 4th birthday.
He was unable to hold his head up himself, sit unassisted or talk. He had frequent respiratory illnesses which led to many hospitalizations; he ended up passing of respiratory failure.
When Emmett was healthy, he was generally a pretty happy toddler who lit up the room with his smiles. He loved when people played with and talked to him, and liked to be held upright.
When he was first diagnosed, we cycled on and off multiple epilepsy medications (prednisolone, ACTH, vigabatrin, Onfi, Felbamate, B6, Keppra, etc.) and he was on keto for 4 months, but nothing seemed to work to “clean up” his EEG. He got daily respiratory treatments because he isn’t able to clear his airway well himself, and we worked with a team of physical, occupational, speech and vision therapists to keep him engaged and help him learn new skills.
Do you have any advice for newly-diagnosed families?
PIGA-CDG is such a rare disorder… it’s impossible to know what the future holds for your child, so don’t get too caught up in “typical” cases, because there aren’t any. Connect to other special needs families who may be going through the same thing so that you can share advice and experiences, and be a shoulder to lean on from someone who understands. Learn as much as you can, and don’t be afraid to ask questions of your doctors. Also, make time to still have fun and enjoy life. In the beginning, because we were dealing with this life-threatening disease, we almost felt guilty laughing or going out, but those things are so important in the long run and don’t at all minimize the gravity of the situation.