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Turning the tide for rare disease

Gillian Jackson: bringing positive energy and information to the online BBS community

By Geoff Case

After a terrifying misdiagnosis, Gillian Jackson’s unborn baby was diagnosed with Bardet-Biedl syndrome (BBS) 32 weeks into the pregnancy. Gillian’s traumatic journey before that and afterwards has propelled her into a vital role within the online BBS community. On her Instagram channel she shares the highs and lows of living with BBS—the smiles and the tears—to show parents a positive side to a BBS diagnosis, a side that they might not otherwise see

A desperate search

for answers

There was nothing in the medical history of Gillian or her husband, Thomas, to make them fear that their unborn child could be affected by a hereditary condition. A routine scan gave cause for celebration: they could now choose a name—Dallas—and prepare to meet their daughter. However, three days later, their midwife called to say Dallas seemed to have something wrong with her kidneys.

A week later, after a bruising ultrasound, Gillian found herself in a doctor’s office. The doctor, without introducing herself, slapped down a textbook from the 70s and said, “Your daughter has polycystic kidney disease. I’ll book you with a termination.” Shocked, Gillian asked for a second opinion and was referred to a special pregnancy programme at Mount Sinai Hospital in Toronto, Canada. 

Gillian Jackson: bringing positive energy and information to the online BBS community
 Bardet-Biedl syndrome (BBS)
Dallas with Mama and Daddy

Within two minutes of Gillian’s next ultrasound at Mount Sinai Hospital, an obstetrician had dismissed the initial diagnosis, but added: “I see something here… She has extra toes and fingers.” Gillian was astounded. She had feared a serious kidney condition and had been directed towards a termination, but the concern was now about her unborn baby’s fingers!

While the outcome of the scan was a surprise, the need for a full-panel genetic investigation was clear. The results to the first two panels came back quickly—all negative—but it would be ten more weeks before the results of the third round: “10 weeks of not knowing if Dallas was going to survive. All that time, I could feel her moving around in there.”

A diagnosis at last: BBS

Poignantly, the results arrived the day after Gillian’s baby shower, in the 32nd week of her pregnancy. “We went into the genetics office, and we were both shaking. Our geneticist was this sweet young doctor, and she was shaking just as much as us. And she had tears in her eyes. She said: ‘Your daughter has Bardet-Biedl Syndrome.’” 

Gillian knew the implications of that diagnosis. She sat and sobbed while the doctor ran through the possible outcomes for Dallas—all negative—before concluding: “I have seen this five times before. And four of those families chose termination.” 

“When you’re given this kind of scenario, the doctors have to run you through the grim and the scary and the negative. And you have to sit there. And you have to listen. Because if you’re going to make an informed choice to change your entire life, you need to listen.”

It seemed there was a presumption that Gillian would choose a termination, but she and Thomas had already decided that if the panels revealed something that could be treated, something where quality of life was possible, they would go through with the pregnancy, so they declined a termination.

Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects multiple body systems. Its severity varies greatly and so do its symptoms. These can include retinal degeneration, obesity (particularly around the abdomen), intellectual impairment, reduced kidney function and polydactyly (having extra digits on the hands or feet).

A late diagnosis: fear, guilt and isolation

Gillian’s journey to diagnosis had been a gruelling one and she knew there was still a mountain ahead to climb, for her, Thomas and, above all, Dallas. There was such an uncertain outlook. Would Dallas survive? Would she need a kidney transplant? Would she have a reasonable quality of life? These were questions that doctors could not answer. It was, they said, a case of wait and see.

Alongside the fear, Gillian was beset by feelings of guilt about the decision she had made in the face of an uncertain future. She felt isolated too: who could she talk to without judgment? “No one knew what we were going through. We hadn’t told anyone because we didn’t want the judgment if she didn’t survive.”

Gillian had received some genetic counselling and was also referred to a psychiatrist who recommended that she talk with other families, but when Gillian looked online, she found only the negative sides of living with BBS: parents looking for advice about seizures and kidney failure, for example. There was nothing positive: “It was so hard to read. There was nothing like, ‘Oh, my kid had a great day, today!’”

The reality of living with a BBS diagnosis: the smiles and the tears

Dallas came into the world after an emergency induced delivery at 38 weeks. She would remain in the newborn intensive care unit (NICU) for three days and in the hospital for a further four. After leaving hospital there was a month of normalcy for the couple and their newborn, followed by regular appointments at SickKids, nephrology check-ups, bloodwork and ultrasounds. 

At 12 months came welcome news: Gillian’s “tiny troublemaker” was released from nephrology and ophthalmology until she was three. “She’s doing so well—she grew into her kidneys!”

Gillian Jackson: bringing positive energy and information to the online BBS community
 Bardet-Biedl syndrome (BBS)
Gorgeous Dallas in the NICU
Gillian Jackson: bringing positive energy and information to the online BBS community
 Bardet-Biedl syndrome (BBS)
Gillian’s “determined little lady” on her first birthday

At 18 months, Dallas regressed. She stopped talking and wouldn’t make a noise for three months. A diagnosis of autism followed and referrals to “any specialist you can think of”. There have been seizures too, a less common feature of BBS. Thankfully, Dallas has had the benefit of access to a multidisciplinary team, and Gillian, with Thomas by her side, has played a vital role coordinating between them. Over the first two years of Dallas’s life, Gillian has become an expert in her daughter’s condition.

Online support for BBS parents today

Gillian has set up a Facebook group for BBS parents, which is now a thriving community where parents share their experiences and expertise. The admins are fantastic, she says, and she has really benefited from the wisdom of mothers with older children. Gillian’s valuable contribution to the group is focused on sharing research about the condition and its therapies.

When Gillian, rather than a doctor, spotted Dallas’s seizures, this ignited a spark for her to help others even more. She realised how much she had learned as a special education needs mom: “I can tell you every single specialty that you need to see; I can tell you what it’s going to be like having a baby in the NICU; I can tell you what therapies are important; I can tell you when they should be hitting milestones and when you should be concerned; I can score kids on autism evaluations and developmental questionnaires.”

While most parents only receive a BBS diagnosis when health problems start to materialise, some do find out during pregnancy. Gillian decided to start an Instagram channel to show parents the day-to-day reality of living with BBS. “I needed someone to be real with me, so I want to be real with other people. Sometimes with different advocates, it goes either way. You’re either sharing only the positives, and it’s not a reality, or you’re sharing only the negatives, and it’s not a reality. I want to share both. It’s not always going to be doctor’s appointments and hospital faces.”

Gillian Jackson: bringing positive energy and information to the online BBS community
 Bardet-Biedl syndrome (BBS)
Gorgeous Dallas
Gillian Jackson: bringing positive energy and information to the online BBS community
 Bardet-Biedl syndrome (BBS)
Gillian’s “tiny troublemaker”

Gillian’s Instagram channel aims to give a balanced and realistic picture of life with BBS. She wants to help people make an informed choice in the face of the enormous pressures and emotional turmoil that parents face at the point of an in-utero diagnosis—and afterwards too. It is a life-changing decision, she says. “I want to be the person that’s going to be there for you, whatever the decision.” 

No one should have to struggle alone

For Gillian there are great rewards to her work. She loves to see parents working together to understand and implement therapies, and there is often positive news to share and celebrate. The inevitable struggles that BBS parents have are often daunting, but that makes the smiles even more rewarding. The greatest reward for Gillian is her knowledge that when parents are faced with a BBS diagnosis and a life-changing decision, there is information and support there for them. She is determined that no one should have to struggle alone.

Importantly, Grandview, a special news centre, now puts parents in touch with Gillian at the outset if there is a diagnosis of BBS, allowing her to be there at the start in those critical early days and weeks. Gillian is also planning to spread the word about BBS and similar diseases through a new rare disease podcast, working with an admin from her Facebook group. The podcast will feature doctors, therapists and specialists, united in their efforts to help families learn how to live the rare life.

Gillian’s inspiring positivity springs from the happy times that she, Thomas and Dallas share—and the certain knowledge that Dallas doesn’t know anything different. As a first-time mother, being a mother to a special needs child is all Gillian knows too. That positivity—tempered by realism—shines through their Instagram channel, helping to turn the tide for parents who might feel overwhelmed by negativity when hearing a diagnosis of BBS.

Gillian Jackson: bringing positive energy and information to the online BBS community
 Bardet-Biedl syndrome (BBS)
“It’s not always going to be doctor’s appointments and hospital faces. Sometimes it will be. But this is what I do every day, all the life in between… I cuddle my baby!”

For support from Gillian and the BBS community see the links to the groups below.

www.instagram.com/dallas.vs.bbs

www.facebook.com/groups/2788088004622612

www.facebook.com/groups/362261055712074


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