Posted at 6:31 PM
From Gail, in the U.K.
When our first child was born, she made “crowing” noises, much to the amusement of the medical staff, as my husband was then a poultry farmer. When our second child was born, she had inspiratory stridor; a crowing noise, like croup, she also became cyanosed very quickly. She was intubated. A spontaneous pneumothorax followed, which led to a tension pneumothorax, which was successfully relieved.

Her Dr. thought our eldest daughter had a milder form of her little sister’s problems, because of her peculiar cry in the first few weeks of life. At one week old our youngest daughter had a tracheotomy. At about one year old we noticed that she had pectus carinatum. We thought this was due to her efforts to speak, no yell, louder than her big sister. She tucked her chin down to cover her trache to speak, even sang, much to the amazement of her doctors. When 23 months old she had corrective surgery for the bilateral abductor vocal cord paralysis , she had by then been diagnosed with; sadly she died the night we brought her home.

We had a third child, who was born with bilateral talipes equino-varus . We didn’t care; he had no respiratory problems. When he had corrective surgery for his talipes, he had serious stridor on coming around from the anaesthesia, and prolonged bleeding. I had spoken to the anaesthetist, mentioning his little sister’s problems, never imagining he would have the same thing happen to him. (Our youngest daughter had been examined under anaesthesia; her airway obstructed by removing her trache, and covering her stoma, without any problems. However, on coming around from the anaesthetic, each time she had severe stridor, and her trache had to be quickly replaced).

When 22, I had seen a doctor, as I had pain in my lower back. He asked if I would stand up, and stretch both arms out to the side, and looked into my eyes. He thought my build, and blue sclera, suggested arthrochalasia multiplex congenita. I had lax ligaments, was very mobile, and would probably be in a wheelchair by the time I was 40, he said!

As our surviving children were growing up, they had problems with different joints; both often felt faint etc. I had the same problems, so I showed them how to cope. We made light of it. We stuck our heads in the sand.

Two years ago, ironically I was then reading “the language of the genes” by Steve Jones; our daughter asked if she was at risk of having an affected child. I found a lot of information on the Internet, and thought our youngest daughter’s vocal cord paralysis could have been caused by Chiari 1 Malformation (see Symptoms); our son had an MRI, which showed he has Syringomyelia, which is often secondary to Chiari 1 Malformation! I also looked into hypermobility problems; searched for arthrochalasia multiplex congenita, and found the Ehlers-Danlos National Foundation website. The arthrochalasia type of Ehlers-Danlos Syndrome (EDS) obviously wasn’t me….but the hypermobile type! Yes!

It seemed myself, and probably all 3 of our children, had a connective tissue disorder. Our youngest daughter having a spontaneous pneumothorax, and pectus carinatum, began to make sense, but I could find no mention of pectus carinatum in EDS. Drs. started saying our son was “strikingly marfanoid;” the pieces of the jigsaw puzzle began to fit together. We were looking not only at EDS, but also Marfan Syndrome.

Gail
North Yorkshire, U.K.