A carer’s perspective: the impact a diagnosis of congenital disorders of glycosylation (CDG) has on a family
Despite being separated by over 9000 miles, Mandy Pinheiro and Mariana Esquinca share many of the same challenges and goals: seeking a diagnosis, accessing treatment and therapies for their children and accelerating research. Here they share their experiences of caring for their children, each diagnosed with a different type of congenital disorders of glycosylation (CDG).
The road to diagnosis
Mandy Pinheiro lives in South Africa with her husband Paulo and their children Luca, Emma and eight-year-old son Marco. Mariana Esquinca and Paul Collot live in Mexico with their daughter Isabella and 19-month-old son Romeo. Both Mandy and Mariana had healthy pregnancies with their youngest sons with no warning signs to suspect anything was going to be wrong with their babies.
For Mandy, Marco was a healthy and relaxed baby for the first 3 months of his life. Mandy and her family first became concerned when Marco was around 4 months old. “He wasn’t meeting those little milestones that happen in the early months of a child’s life in terms of his control.” Marco was seen by many different medical professionals to try and find out the cause and was initially diagnosed with West syndrome, a form of epilepsy which causes infantile spasms. Marco began an intensive treatment plan but had several side effects and complications to the medication. His initial hospitalisation lasted for 21 days as they struggled to get the seizures controlled. Marco’s pediatric neurologist Dr Dorcas Wilson turned him inside out trying to establish the etiology of his condition and eventually was referred to Dr Lindsay Lambie, a geneticist. “In South Africa, at the time, we didn’t have that kind of level of intense genetic testing, as they do in 1st world countries. So we needed to send all his samples to the Netherlands. We had to wait six months to eventually get the diagnosis—after four years—which was the CDG.” Marco was diagnosed with having a genetic mutation in the gene ALG13 resulting in ALG13-CDG.
In South Africa, at the time, we didn’t have that kind of level of intense genetic testing, as they do in 1st world countries. So we needed to send all his samples to the Netherlands. We had to wait six months to eventually get the diagnosis—after four years—which was the CDG.Mandy Pinheiro
For Mariana, the signs were also early. Romeo also missed milestones and had unexplained seizures which increased in frequency. “When he was one year old he wouldn’t sit but he was advancing in other ways and otherwise seemed physically normal, but we had to go deeper.” We were put in contact with the Geneticist Dr Susana Monroy, based in Mexico City and after a few months of follow up, she told us the only way to determine what was wrong with Romeo was through a genetic test that we had to send to USA. Although expensive, it was the only hope in finding a diagnosis for their son and one month later he was diagnosed with PIGA CDG. “PIGA-CDG is an extremely rare genetic disorder that affects children from birth. It is also known as PIGA deficiency or multiple birth defects-hypotonia-seizure syndrome type 2 (MCAHS2).” Romeo started weekly therapy at great expense; Mariana stressed how no help was given by the Mexican government with funding Romeo’s treatment as little is known about the disease.
Romeo is the first one in the family to have this genetic condition. Nobody knew anything about it and no insurers would help because he was born with it.Mariana Esquinca
The impact on family life
Marco’s condition means he is immobile, so he needs a full-time carer to assist with his daily routine as well as visual therapy, gross and fine motor tasks and physical therapy. “The physical level for me is probably the hardest right now. As he is getting older it is getting harder. Twenty-eight kilos to pick up is quite a big load and then there are other things in terms of personal care.” Marco is able to communicate his emotions to Mandy and the family in non-verbal ways. Although this is difficult, Mandy has found a way to adapt: “All the non-verbal attributes will come into play: shrieks of laughter when he’s really happy, and then groans and moans when he’s unhappy. So, I think we’ve learned to read his cues to know when he’s happy or not. And he certainly lets you know when he’s not happy!”
Mandy explained candidly how Marco’s condition has both a negative and positive impact on the family: “We love to be outdoors but can’t always go out to do physical activities like cycling and running. Either one of us stays behind, or we get a carer to look after Marco when we need to do those things. It sort of fragments your family life to a certain extent.” However, Mandy shares how much Marco has taught them, and how all of her children have benefited hugely from having Marco come into their lives.
They’ve learned a lot in terms of compassion, and how to be very caring children to kids or adults who have disabilities. I think their emotional intelligence has grown way beyond their years.Mandy Pinheiro
For Mariana the responsibility of caring for Romeo means she is extremely protective over him. “I feel a personal responsibility for making sure Romeo is given his medication correctly. I don’t trust anyone else to do it properly and this can be difficult for Paul who wants to help.” Romeo’s big sister, Isabella, has also struggled with the attention Romeo is given; she can get jealous at times, which is not uncommon with siblings in rare disease. It can be especially difficult for younger children to process why their sibling is getting more from mum and dad at certain times.
I feel a personal responsibility for making sure Romeo is given his medication correctly. I don’t trust anyone else to do it properly and this can be difficult for Paul who wants to help.Mariana Esquinca
A global support network
For most families affected by a rare diagnosis, support networks online and offline are a light in the dark. Mandy found a great support network in family and friends but also within the CDG community. “The CDG Global Alliance is a Facebook platform where people share their stories and their difficulties. Reading these gives you so much more insight in terms of what you’re going through, and how it is actually quite similar to somebody on the other side of the world.” Mandy runs her own support group in South Africa for the small number of families with a diagnosis of CDG, “There are only about seven CDG children in South Africa with this diagnosis. So it’s very few and Marco is the only child with this specific subtype in South Africa.” Medical professionals also provide a type of support system for Mandy and Marco which she can rely on anytime, especially in a crisis. “We have an amazing group of specialists made up of his geneticist, neurologist, paediatrician and physical therapist that really care for Marco and support us.”
There are only about seven CDG children in South Africa with this diagnosis. So it’s very few and Marco is the only child with this specific subtype in South Africa.Mandy Pinheiro
With a lack of local patient support organisations in Mexico, Mariana and Paul found support through their geneticist, Susana Monroy who, through working with Dr Morava-Kozicz, a specialist in CDG and was able to educate them on the disease. Mariana and Paul found a scientist locally, Dr Ivan Martinez Duncker who will be carrying out research into Romeo’s condition, as part of a natural history programme.
They have been very helpful in giving us tips to discuss with the doctors, maybe to try a new therapy or diet, which our doctor will then agree to try.Paul Collot
They found their community when they joined the World CDG Organization where they met Dr Vanessa Ferreira, founder and operations team leader, who helped them understand CDG and gave them vital support. They connected with other families online in the CDG and PIGA community and found comfort and knowledge from learning about their experiences. Paul commented that “they have been very helpful in giving us tips to discuss with the doctors, maybe to try a new therapy or diet, which our doctor will then agree to try”. This was the spark for creating their own network, CDG Mexico: “We started to provide this information locally; we wanted to share and find information in different languages, to help others.
The unmet global needs in CDG
Something which both families described was a lack of resources and opportunities in their own countries. Mandy stresses that in South Africa there are fewer opportunities to join clinical trials or to be involved in medical programmes than there are in Europe or America, which is why they had to seek help overseas. Furthermore, although Marco’s medical team is very supportive, they are not always “knowledgeable in terms of CDG” as there is no CDG Specialist. Mandy explains how she often does a lot of research, which she shares with her medical team in order to keep them educated on the latest findings, research and therapies linked to CDG. Mandy believes more awareness is needed in their countries about the condition. “The more we get the knowledge out there, and the more awareness there is about CDG, the more things will happen.” For Mandy, the biggest unmet need is a cure. “We live with a lot of hope that someday, through research, they can find cures for some of the subtypes of CDG.”
We live with a lot of hope that someday, through research, they can find cures for some of the subtypes of CDG.Mandy Pinheiro
PIGA is so new; it is stressful not to know what his future will be like, not knowing if he can go to university and have a normal life, so a cure is my hope and my dream.Mariana Esquinca
The unmet need of awareness was also highlighted by Paul and Mariana in Mexico; they feel that Mexico only recognises around 20–30 rare diseases out of the 7000 that exist. Mariana emphasises how it would help if doctors were to include CDG types as a possibility when genetic tests are carried out. At present there are only three confirmed cases of CDG in Mexico. Both Mariana and Paul are passionate about helping other families around the globe find a diagnosis. Paul says, “It is part of our job and our fight to spread the word, and fight for CDG—not only PIGA, but all types of CDG–and all the other rare diseases to be heard.” The biggest unmet need is research for a cure: “PIGA is so new; it is stressful not to know what his future will be like, not knowing if he can go to university and have a normal life, so a cure is my hope and my dream.”
Research and CDG
Both families passionately believe that global communication and collaborative research in the CDG space is vital to find the cure the community so desperately needs. Mandy questions the current situation: “Everybody’s doing something but are they all really collaborating with each other?” She is sure that a collaborative approach would speed up the process for organisations, researchers and industry and benefit the community enormously. Paul recognises that “there is some research starting all over the world” but he believes “it should be centralised—all working together”.