Author: Amanda Ripsam-Blogger and Advocate
Meet and Greet with Diana
Date:07 July 2016 Meet Diana, a mom who has two children with two different genetic disorders: One of her kids has 22q11.2 deletion, like my daughter Bella and I have. The other child has 15q duplication. That’s correct- her children have two very different types of rare genetic disorders.
I met Diana on Instagram, we connected by liking each others photos and started talking about each others children and our blogs. Diana also shares about her journey as a mother to children with rare genetic disorders. Diana blogs at http://surprisinglyspecial.com/ The former teacher, turned stay at home mom, opened up in a Q and A session for my meet and greet series.
How did you first discover your children have different genetic disorders?
Each of my sons was diagnosed in infancy. Both genetic disorders occurred spontaneously at conception. They were not inherited. The two syndromes are unrelated, as far as we know. Based on what we were told by our doctors, having our first son with 22q did not put us at risk for having a second child with a genetic disorder.
For Calvin, my older one, in his first few weeks of life doctors found a surprising number of anatomical abnormalities: a VSD (tiny hole in the wall of his heart between the ventricles), an eventrated diaphragm (shaped a little different because of extra fibrous tissue), enlarged kidneys, and a submucosal cleft palate. He was also struggling with feeding and slow weight gain. All these things led his pediatrician to send us over to genetics to see if there was an underlying cause. Sure enough, the underlying cause was 22q deletion.
Henry was born the following year (I know, right? 15 months apart!). Henry appeared to be doing ok with breastfeeding, but he was not gaining enough weight. His pediatrician ordered several blood tests, including a genetic screen which found his extra little piece of chromosome 15. I asked her if the fact that our first son had a genetic disorder was part of the reason for her ordering the genetic test. She said that no, she knew that Calvin’s diagnosis was not related to Henry, but that slow weight gain with no obvious cause is a red flag for genetic disorders.
Were both you and your husband tested for genetic disorders?
After Calvin was born, we were both tested for 22q deletion and neither of us were found to have it. We didn’t bother having a fully genetic array done on ourselves because our risk was so low. After Henry was born, we did not feel the need to get tested for dup15q. We know from his blood tests that his extra copy is from maternal DNA, and it would be obvious if I had the syndrome. It appears that the egg that formed Henry contained the extra piece of chromosome 15. We do not plan to have any more children, so we don’t feel any further genetic testing on ourselves is needed.
What type of genetic test did you use to discover the children have 22qdel and 15dup?
A cytogenomic microarray found Calvin’s missing piece and Henry’s extra piece.
Since there are variations of a chromosome 15 duplication, another test called a Multiplex Ligation-dependent Probe Amplification (MLPA) was needed to rule out other chromosome 15 disorders for Henry such as Prader-Willi or Angelman Syndrome.
How did you feel when you first found out?
Getting Calvin’s diagnosis was a shock. We were first time parents and all we wanted was for our baby to be healthy. We were in the midst of all these medical appointments as the doctors were finding one after the other after the other of things that were not normal about our son. All we wanted was for someone to tell us that he was going to be all right! Luckily, the geneticist who gave us Calvin’s diagnosis was very very kind and gentle. She assured us that 22q is not associated with severe cognitive disability, that most people with 22q grow up and go to school and may need extra help, but otherwise do just fine. We learned how lucky we were that all of Calvin’s anatomical differences were not causing him health problems. It was a shock, but it was not devastating. It explained everything, so in a way it was even a relief.
Getting Henry’s diagnosis was a whole other story. I had been absolutely counting on having a “normal” baby the second time around. I was completely expecting our second son to be neurotypical. Learning that not only did Henry have a genetic disorder, but a rarer disorder with much more profound developmental effects was devastating. It brought up really scary questions like, what is wrong with us that we can’t have a normal child? And how are we ever going to care for TWO children with additional needs? It sent me to a very dark place of grief and fear and guilt. It was a much slower, harder process for me to learn to cope with, and eventually embrace Henry’s diagnosis.
What health issues have your children faced?
Calvin, with 22q deletion, has several anatomical abnormalities, as I mentioned. We are very thankful that none of these have resulted in life-threatening medical issues. That said, he has had two surgeries: a hernia repair when he was 5 months old, and a palate repair just before his 3rd birthday. We expect him to need at least one more palate surgery to get his palate muscles functioning as well as they can in order to help with his speech problems.
Henry had horrible reflux and vomiting during his infancy, which we later discovered was being caused by respiratory difficulties related to his hypotonia (low muscle tone). Around 9 months, he was also diagnosed with the worst case of sleep apnea that our doctors at Stanford had ever seen! His sleep apnea score of 150 was unheard of, especially for an infant (15 is considered severe. His was 150!). He had surgery when he was 15 months old to help correct the sleep apnea. His ENT removed his adenoids and part of his tonsils to clear his airway, and his pulmonologist set us up with a home BiPAP ventilator. The surgery did improve the sleep apnea, but didn’t stop it completely, so he still uses the BiPAP. However, his vomiting and reflux totally disappeared after the surgery. It felt like a miracle. He started gaining more weight, and making progress with his motor skills.
What specialist do your children see?
Calvin receives speech therapy, and has been in speech therapy since age 2. His focus is on articulation. His receptive language and vocabulary are great! But articulation is really difficult for him, especially forming consonant sounds.
Henry has been in physical therapy, occupational therapy, feeding therapy, and speech therapy since he was about 18 months old. He has made lots of progress. He started walking last November at 2 years and 4 months old and he is getting better at it every day! He is nonverbal, but he is making progress with receptive language and he is starting to learn some baby sign language.
What resources have you found to be most helpful?
Our therapists are the most valuable resource for me. Their expertise is always so informative and they really help me focus on the boys’ potential.
What are your hopes and dreams for your children?
For them to grow up and feel happy and fulfilled.
For them to feel that they are valued, not just by their families, but by society.
For them to always feel love and belonging.
For them to see their own potential and have a desire to continue learning.
I also hope that school will be a positive experience for both boys. I hope that Calvin will go to college, be able to live independently as an adult and have a career that he loves. For Henry, I hope that he will be able to have some independence in adulthood, and that he will be able to find something he enjoys doing that gives him a sense of purpose and joy.
I want to thank Diana for sharing her story.